Severe metabolic alkalosis due to pyloric obstruction: case presentation, evaluation, and management.

PubMed

McCauley, Meredith; Gunawardane, Manjula; Cowan, Mark J

2006-12-01

A 46-year-old man presented to the emergency room with severe metabolic alkalosis, hypokalemia, and respiratory failure requiring intubation and mechanical ventilation. The cause of his acid-base disorder was initially unclear. Although alkalosis is common in the intensive care unit, metabolic alkalosis of this severity is unusual, carries a very high mortality rate, and requires careful attention to the pathophysiology and differential diagnosis to effectively evaluate and treat the patient. A central concept in the diagnosis of metabolic alkalosis is distinguishing chloride responsive and chloride nonresponsive states. Further studies are then guided by the history and physical examination in most cases. By using a systematic approach to the differential diagnosis, we were able to determine that a high-grade gastric outlet obstruction was the cause of the patients' alkalosis and to offer effective therapy for his condition. A literature review and algorithm for the diagnosis and management of metabolic alkalosis are also presented.

Adult Brain Tumors and Pseudotumors: Interesting (Bizarre) Cases.

PubMed

Causil, Lazaro D; Ames, Romy; Puac, Paulo; Castillo, Mauricio

2016-11-01

Some brain tumors results are interesting due to their rarity at presentation and overwhelming imaging characteristics, posing a diagnostic challenge in the eyes of any experienced neuroradiologist. This article focuses on the most important features regarding epidemiology, location, clinical presentation, histopathology, and imaging findings of cases considered "bizarre." A review of the most recent literature dealing with these unusual tumors and pseudotumors is presented, highlighting key points related to the diagnosis, treatments, outcomes, and differential diagnosis. Copyright © 2016 Elsevier Inc. All rights reserved.

Anogenital giant seborrheic keratosis.

PubMed

Wollina, Uwe; Chokoeva, Anastasiya; Tchernev, Georgi; Heinig, Birgit; Schönlebe, Jacqueline

2017-08-01

Seborrheic keratosis (SK) are very common benign epidermal tumors. Giant seborrheic keratosis (GSK) is a rare variant with clinical characteristics, which leads very often to misdiagnosis. A genital site of SK is very unusual clinical manifestation and although the cause is still unknown, current literature data point to a possible pathogenetic role of chronic friction and HPV infection. The rare genital localization makes Buschke-Löwenstein tumor and verrucous carcinoma important differential diagnoses. GSK may also show some clinical features of a melanoacanthoma, which makes cutaneous melanoma as another possible differential diagnosis. The clinical diagnosis of genital GSK is often a very difficult one, because the typical clinical features of GSK disappear and the most common dermoscopic features of GSK are usually not seen in the genital region lesions. The diagnosis of GSK of the anogenital area should be made only and always after the exact histological verification and variety of differential diagnosis should be carefully considered. The treatment of GSK is primary surgically. We present a rare case of GSK with concomitant HPV infection in the anogenital region of 72-year-old patient. Surgical approach was performed with excellent outcome.

Congenital Limb Deficiency Associated with Intellectual Disability: Unusual Presentation in Two Subjects.

PubMed

Raza, Muhammad Ummear; Ullah, Waheed; Malik, Sajid

2016-09-01

Congenital constriction ring (CCR) and symbrachydactyly are two distinct, rare, and heterogeneous limb deficiency conditions which affect the digits. Here, we report on two different individuals with an unusual presentation of limb deficiency accompanying intellectual disability (ID) and certain other malformations. In the first index female, CCR occurred with mild ID, squint eyes, obesity, and metatarsus adductus. The second index male was presented with symbrachydactyly, profound ID, and speech/hearing impairments. The association of limb deficiency conditions with these anomalies is very rare. Differential diagnosis and literature survey have been offered to establish the rarity of these entities.

Imaging of the meninges and the extra-axial spaces.

PubMed

Kirmi, Olga; Sheerin, Fintan; Patel, Neel

2009-12-01

The separate meningeal layers and extraaxial spaces are complex and can only be differentiated by pathologic processes on imaging. Differentiation of the location of such processes can be achieved using different imaging modalities. In this pictorial review we address the imaging techniques, enhancement and location patterns, and disease spread that will promote accurate localization of the pathology, thus improving accuracy of diagnosis. Typical and unusual magnetic resonance (MR), computed tomography (CT), and ultrasound imaging findings of many conditions affecting these layers and spaces are described.

Atypical Teratoid Rhabdoid Tumor in a Teenager with Unusual Infiltration Into the Jugular Foramen.

PubMed

Udaka, Yoko T; Yoon, Janet M; Malicki, Denise M; Khanna, Paritosh C; Levy, Michael L; Crawford, John R

2015-12-01

Atypical teratoid rhabdoid tumor is a rare malignant neoplasm that represents 1%-2% of all pediatric central nervous system tumors. Immunohistochemistry plays an important role in establishing the diagnosis with a loss of INI-1 staining in tumor cells. In this case report, we describe a teenager with an unusual presentation and pattern of infiltration of the tumor. A 13-year-old boy presented with a history over several months of progressive nausea, weight loss, and hoarseness of voice associated with multiple lower cranial nerve palsies on neurologic examination. Magnetic resonance imaging revealed a large heterogeneously enhancing extra-axial neoplasm with extension and bony expansion of the jugular foramen. After near total resection, neuropathology demonstrated the absence of INI-1 expression consistent with a diagnosis of atypical teratoid rhabdoid tumor. This case highlights the diverse clinical presentation and infiltrative potential of atypical teratoid rhabdoid tumors, thus expanding the differential diagnosis of extra-axial tumors invading the jugular foramen. Copyright © 2015 Elsevier Inc. All rights reserved.

An unusual abdominal cystic mass in the round ligament of the uterus: a case report.

PubMed

Açmaz, Gökhan; Aksoy, Hüseyin; Aksoy, Ülkü; Özyurt, Sezin; Esin, Erkan; Gökahmetoğlu, Günhan

2014-10-01

Cystic tumor of the round ligament is extremely rare. To our knowledge, this is the first case reported in the literature of a round ligament giant serous cystadenoma. A 17-year-old adolescent who presented with massive abdominal swelling and was later identified as a serous cystadenomas of the round ligament with a size of approximately 50 cm. A multidisciplinary team including gynecologist, surgeon, and urologist performed the surgical cyst excision and she has recovered well without any complications. Round ligament serous cystadenomas could grow to any size when there is a diagnosis. In addition, even in unusual locations, round ligament serous cysts should be kept in the differential diagnosis of abdominal masses. Copyright © 2014 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.

Articular nodular fasciitis of the right shoulder joint: report of an unusual case with focus on immunohistochemical differential diagnosis.

PubMed

Tajima, Shogo; Zuki, Tomoyukisu; Koda, Kenji

2015-01-01

The mesenchymal lesion nodular fasciitis (NF) can affect various sites of the body but usually arises in subcutaneous tissue or occasionally skeletal muscle. NF is not commonly known to arise in joints, and articular NF is extremely rare. Herein, we present a case of a 54-year-old woman with articular NF. No sign of recurrence was observed after surgical piecemeal removal with a suspected positive surgical margin. In our case, a differential diagnosis of NF, desmoid-type fibromatosis, and low-grade myofibroblastic sarcoma was considered. Stromal hyalinization, a characteristic of articular NF, made the diagnosis somewhat difficult, although typical NF morphology was present. Immunohistochemical analysis of α-smooth muscle actin, desmin, β-catenin, and protein gene product 9.5 expression along with close morphological examination provided a reliable distinction.

Capgras syndrome related to diazepam treatment.

PubMed

Stewart, Jonathan T

2004-01-01

Capgras syndrome, the delusion that identical-appearing impostors have replaced familiar people, is an unusual phenomenon usually seen in schizophrenia or dementia. We recently cared for a 78 year old man who seemed to develop Capgras syndrome as an adverse reaction to diazepam. An iatrogenic cause should be considered in the differential diagnosis of any new delusion, including Capgras syndrome.

Benign vascular proliferation in a lymph node following acute toxoplasmosis. A differential diagnosis from Kaposi's sarcoma.

PubMed

Rousselet, M C; Saint-André, J P; Beaufils, J M; Diebold, J

1988-12-01

We describe an unusual intranodal vascular proliferation following acute toxoplasmosis in a man. This proliferation is distinct from other benign vasoformative nodal lesions. It could be interpreted as a reactive healing process that might be misdiagnosed as nodal Kaposi's sarcoma. Some criteria to avoid such misdiagnosis are presented.

Malignant Mixed Tumor of the Finger: A Case Report.

PubMed

Nakanishi, Akito; Honoki, Kanya; Omokawa, Shohei; Tanaka, Yasuhito

2018-06-01

We present a very rare case of malignant chondroid syringoma of the fingertip in a 44-year-old man that was reconstruced by neurovascular island flap after the complete tumor resection of the fingertip. Although it is a rare tumor at an unusual area, it should be included in the differential diagnosis of the finger tumors.

Paratesticular desmoplastic small round cell tumour: an unusual tumour with an unusual fusion; cytogenetic and molecular genetic analysis combining RT-PCR and COBRA-FISH.

PubMed

Cliteur, Vincent Pm; Szuhai, Károly; Baelde, Hans J; van Dam, Jurriaan; Gelderblom, Hans; Hogendoorn, Pancras Cw

2012-01-25

Desmoplastic small round cell tumour is a rare malignant tumour with a male to female ratio of 4:1. It manifests mostly at serosal sites. Here we present a case of a 28-year-old male patient, who presented with a fast growing paratesticular mass. On biopsy nests and cords of small round cells, without a clear morphological lineage of differentiation were seen. Occasionally desmoplatic small round cell tumour shows different lines of differentiation. An unequivocal histological diagnosis might be difficult in such cases. Here we demonstrate by a combination of methods the characteristic immunohistochemical profile and - albeit unusual - molecular background and discuss the eventual link with Ewing sarcoma.Immunohistochemical studies showed a membranous staining of Keratine AE1/3 and a dot-like staining of Desmine, confirming its diagnosis. Using COBRA-FISH following a metaphase approach we demonstrated a balanced translocation, t(11;22)(p13;q12) and in RT-PCR formation of the EWSR1-WT1 fusion product, a specific translocation of desmoplastic round cell tumour. The fusion involves exon 9 of EWSR1 to exon 8 of WT1, an unusual fusion product, though earlier described in a case of a desmoplastic small round cell tumour of the hand. The EWSR1-WT1 chimera seems to function as an oncogenic transcription factor. Here the zinc finger domain of the WT1 acts with affinity with certain promoter domains influencing the expression of various downstream proteins such as: PDGFA, PAX2, insulin-like growth factor 1 receptor, epidermal growth factor receptor, IL2 receptor beta, BAIAP3, MLF1, TALLA-1, LRRC15 and ENT. We discuss their potential oncogenic roles and potential therapeutic consequences.

Paratesticular desmoplastic small round cell tumour: an unusual tumour with an unusual fusion; cytogenetic and molecular genetic analysis combining RT-PCR and COBRA-FISH

PubMed Central

2012-01-01

Desmoplastic small round cell tumour is a rare malignant tumour with a male to female ratio of 4:1. It manifests mostly at serosal sites. Here we present a case of a 28-year-old male patient, who presented with a fast growing paratesticular mass. On biopsy nests and cords of small round cells, without a clear morphological lineage of differentiation were seen. Occasionally desmoplatic small round cell tumour shows different lines of differentiation. An unequivocal histological diagnosis might be difficult in such cases. Here we demonstrate by a combination of methods the characteristic immunohistochemical profile and - albeit unusual - molecular background and discuss the eventual link with Ewing sarcoma. Immunohistochemical studies showed a membranous staining of Keratine AE1/3 and a dot-like staining of Desmine, confirming its diagnosis. Using COBRA-FISH following a metaphase approach we demonstrated a balanced translocation, t(11;22)(p13;q12) and in RT-PCR formation of the EWSR1-WT1 fusion product, a specific translocation of desmoplastic round cell tumour. The fusion involves exon 9 of EWSR1 to exon 8 of WT1, an unusual fusion product, though earlier described in a case of a desmoplastic small round cell tumour of the hand. The EWSR1-WT1 chimera seems to function as an oncogenic transcription factor. Here the zinc finger domain of the WT1 acts with affinity with certain promoter domains influencing the expression of various downstream proteins such as: PDGFA, PAX2, insulin-like growth factor 1 receptor, epidermal growth factor receptor, IL2 receptor beta, BAIAP3, MLF1, TALLA-1, LRRC15 and ENT. We discuss their potential oncogenic roles and potential therapeutic consequences. PMID:22587803

Bilateral isolated submandibular gland mumps.

PubMed

Cheung, Linnea; Henderson, Arthur Harry; Banfield, Graham; Carswell, Andrew

2017-06-05

Isolated submandibular swellings pose a diagnostic challenge to the practising otolaryngologist. We report an unusual case of mumps isolated to bilateral submandibular glands. We discuss the case and the literature surrounding this condition and remind clinicians that mumps should be considered as a diagnosis in the presence of submandibular gland swelling in the absence of typical parotid swelling associated with mumps. Early consideration of this differential diagnosis, serological testing and a multidisciplinary approach may help to clinch the diagnosis earlier and prevent spread of the virus. © BMJ Publishing Group Ltd (unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

An Unusual Cause of Carbon Monoxide Poisoning: Narghile Smoking

PubMed Central

Ateş, Alpay; Arikan, Müge; Özgök, Ayşegül

2016-01-01

Patient: Male, 27 Final Diagnosis: Carbon monoxide poisoning Symptoms: Dizziness • nausea • Syncope Medication: — Clinical Procedure: O2 treatment Specialty: Anesthesiology Objective: Challenging differential diagnosis Background: Carbon monoxide (CO) poisoning is commonly seen during the winter season in Turkey due to use of charcoal stoves and water heaters, but narghile smoking is a rare cause of CO poisoning. Case Report: In this paper, we report a CO poisoning case caused by narghile smoking. The patient was admitted to the ED with nausea, dizziness, vertigo, and syncope. Conclusions: The diagnosis of CO poisoning depends on suspicious anamnesis. The major treatment of CO poisoning is oxygen supply. PMID:27618983

An unusual ST-segment elevation: apical hypertrophic cardiomyopathy shows the ace up its sleeve.

PubMed

de Santis, Francesco; Pergolini, Amedeo; Zampi, Giordano; Pero, Gaetano; Pino, Paolo Giuseppe; Minardi, Giovanni

2013-01-01

Apical hypertrophic cardiomyopathy is part of the broad clinical and morphologic spectrum of hypertrophic cardiomyopathy. We report a patient with electrocardiographic abnormalities in whom acute coronary syndrome was excluded and apical hypertrophic cardiomyopathy was demonstrated by careful differential diagnosis. Copyright © 2012 Sociedade Portuguesa de Cardiologia. Published by Elsevier España. All rights reserved.

[Verrucous carcinoma of the kidney: report of 2 cases].

PubMed

Sellami-Boudawara, T; Gouiaa, N; Makni, S; Sellami, A; Bahri, I; Mhiri, M N; Jlidi, R

2001-07-01

The verrucous carcinoma is an unusual shape of well differentiated squamous cell carcinoma, first described at the ORL region; the kidney location is rare; the risk factors are represented essentially by lithiasis and/or urinary infection; the clinical symptom is not specific. Diagnosis is facilitated by radiological investigations and particularly excretory urogram/ultrasound; certainly diagnosis is pathological. The nephro-ureterectomy with collar resection of the bladder is the choice treatment. We report two observations and we clarify clinicopathological aspects of this type of carcinoma and we discuss the prognosis.

Spiders in dermatology.

PubMed

Kang, Jun K; Bhate, Chinmoy; Schwartz, Robert A

2014-09-01

Spider bites represent an unusual and potentially over-represented clinical diagnosis. Despite a common fear of spiders, known as arachnophobia, current knowledge suggests that only a small number of families within the order Araneae are medically relevant. Moreover, most cutaneous spider reactions, including both evenomations and physical trauma, produce mild, local symptoms which may be managed with supportive care alone. The differential diagnosis for spider bites may be broad, especially if the offending arachnid is not seen or found. We describe a series of spiders relevant to the dermatologist in the United States.

Disseminated sporotrichosis

PubMed Central

Romero-Cabello, Raúl; Bonifaz, Alexandro; Romero-Feregrino, Raúl; Sánchez, Carlos Javier; Linares, Yancy; Zavala, Jorge Tay; Romero, Leticia Calderón; Romero-Feregrino, Rodrigo; Vega, José T Sánchez

2011-01-01

Sporotrichosis is a subacute or chronic infection caused by Sporothrix schenckii. It is a primary cutaneous infection and it has different clinical forms: disseminated by lymphatic vessels (75%), localised cutaneous form (20%), disseminated cutaneous and extracuteus rarely. The systemic disseminated sporotrichosis is considered a severe opportunistic infection. The best diagnostic test is the culture. The authors report a case of a 36-year-old man, originally from Puebla, Mexico, with a diagnosis of disseminated sporotrichosis. Differential diagnosis with other pathologies includes leishmaniasis, chromoblastomycosis, tuberculosis verrucose and lymphangitis. The development of unusual presentations in immunocompromised patients has been reported. PMID:22700076

Adenomyosis: from the sign to the diagnosis. Imaging, diagnostic pitfalls and differential diagnosis: a pictorial review.

PubMed

Valentini, A L; Speca, S; Gui, B; Soglia, G; Soglia, B G; Miccò, M; Bonomo, L

2011-12-01

Adenomyosis is a pathological gynaecological condition characterised by benign invasion of the endometrium into the myometrium. It is often misdiagnosed, or is not easily recognised, although it is responsible for disabling symptoms such as menorrhagia, abnormal uterine bleeding, dysmenorrhoea and infertility in premenopausal women. The aim of this pictorial review is to analyse the features of adenomyosis by illustrating the most usual and typical imaging patterns, along with the unusual appearances, seen in a vast array of gynaecological imaging modalities. The different findings of focal and diffuse adenomyosis along with the diagnostic limitations of ultrasound, hysterosalpingography and magnetic resonance imaging are described, as are the pitfalls and differential diagnosis with other pathological conditions that are often misdiagnosed as adenomyosis. The role of the different imaging modalities in planning appropriate treatment and their usefulness in monitoring therapy are also discussed.

Unusually large complex odontoma in maxillary sinus associated with unerupted tooth. Report of case and review of literature.

PubMed

Singer, Steven R; Mupparapu, Muralidhar; Milles, Maano; Rinaggio, Joseph; Pisano, Dominic; Quaranta, Patrick

2007-01-01

An unusual case of a large complex odontoma with an associated impacted tooth is presented. Odontomas are hamartomatous growths of enamel, dentin, cementum and pulp tissue. Although they are usually tooth-sized or smaller, occasionally, the complex variant can exhibit considerable growth, as was seen in the case presented here. It occupied most of the maxillary sinus and displaced the floor of the orbit and the medial and posterior walls of the left maxillary sinus. Panoramic radiographs, as well as axial and coronal CT studies, showed the extent of the lesion in various dimensions. A differential diagnosis of various calcifying tumors was formulated on the basis of these findings. The lesion was surgically excised, and histologic analysis confirmed the radiographic impression. Although odontomas of this magnitude are rare, this case demonstrates the value of imaging, radiographic histopathologic diagnosis and surgical treatment planning prior to any definitive treatment.

Diagnosis and hypnotic treatment of an unusual case of hysterical amnesia.

PubMed

Iglesias, Alex; Iglesias, Adam

2009-10-01

This article reports on the use of hypnosis to facilitate the diagnostic process and the treatment of an unusual case of adult psychogenic amnesia. An Iraqi citizen living in the U.S. developed an atypical case of Dissociative Amnesia, Systematized type, post-automotive collision. The amnesia presented with features encompassing complete loss of the patient's native language. Dissociation theory as a conceptualization of hysterical reactions was employed as the basis in the formulation of this case. The differential diagnosis was facilitated by the Hypnotic Diagnostic Interview for Hysterical Disorders (HDIHD) Adult Form, an interview tool specifically designed for cases such as this. Treatment consisted exclusively of ego strengthening and time projection approaches in hypnosis. It was hypothesized that, as the coping capacities became more viable, the dissociative symptoms would remiss. After 6 weekly visits the patient regained complete command of his native language. Follow-up at 6 months indicated that the patient remained devoid of symptoms.

Acute Hemorrhagic Edema of Infancy: an unusual diagnosis for the general pediatrician

PubMed Central

Cunha, Diego Fontana Siqueira; Darcie, Ana Letícia Fornazieri; Ferronato, Angela Espósito; Hein, Noely; Lo, Denise Swei; Yoshioka, Cristina Ryoka Miyao; Hirose, Maki; Cardoso, Debora Morais; Gilio, Alfredo Elias

2015-01-01

Acute Hemorrhagic Edema of Infancy (AHEI) is a rare leukocytoclastic vasculitis, clinically characterized by the classical triad: palpable purpuric skin lesions, edema and fever, and is commonly misdiagnosed as Henoch-Schönlein purpura. In addition to its sudden onset, AHEI is also characterized by its self-limited course with complete and spontaneous recovery occurring between 1 and 3 weeks. Because of the scarcity of studies on therapy with corticosteroids, the conservative approach is usually recommended. The authors report an unusual case of an one-year-old boy who presented with typical cutaneous rash of AHEI and orchitis, the latter showing complete resolution after less than 24 hours of prednisolone therapy. The authors call attention to this entity mainly as a differential diagnosis of Henoch-Schönlein purpura and to the importance of new studies to establish the benefits of corticosteroid therapy for AHEI. PMID:26558246

Acute Hemorrhagic Edema of Infancy: an unusual diagnosis for the general pediatrician.

PubMed

Cunha, Diego Fontana Siqueira; Darcie, Ana Letícia Fornazieri; Benevides, Gabriel Nuncio; Ferronato, Angela Espósito; Hein, Noely; Lo, Denise Swei; Yoshioka, Cristina Ryoka Miyao; Hirose, Maki; Cardoso, Debora Morais; Gilio, Alfredo Elias

2015-01-01

Acute Hemorrhagic Edema of Infancy (AHEI) is a rare leukocytoclastic vasculitis, clinically characterized by the classical triad: palpable purpuric skin lesions, edema and fever, and is commonly misdiagnosed as Henoch-Schönlein purpura. In addition to its sudden onset, AHEI is also characterized by its self-limited course with complete and spontaneous recovery occurring between 1 and 3 weeks. Because of the scarcity of studies on therapy with corticosteroids, the conservative approach is usually recommended. The authors report an unusual case of an one-year-old boy who presented with typical cutaneous rash of AHEI and orchitis, the latter showing complete resolution after less than 24 hours of prednisolone therapy. The authors call attention to this entity mainly as a differential diagnosis of Henoch-Schönlein purpura and to the importance of new studies to establish the benefits of corticosteroid therapy for AHEI.

[Clear cell carcinoma of the ovary simulating a yolk sac tumor].

PubMed

Bahri, Ibticem; Boudawara, Tahya; Khabir, Abdelmajid; Beyrouti, Mohamed Issam; Frikha, Mounir; Jlidi, Rachid

2003-04-01

Clear cell carcinoma (CCC) of the ovary is uncommon. In young patients, this tumor may simulate a yolk sac tumor. In this case, the morphologic distinction between these tumors is often difficult but the immunohistochemical staining for CA125 and alpha foeto protein (AFP) and the response to chemotherapy are particularly helpful to resolve this problem of differential diagnosis. We report a case of a 17 year old patient who was operated for a tumor of the right ovary. The diagnosis of a yolk sac tumor was first suggested. However, because of the non response to chemotherapy, a second laparotomy was performed; the definitive pathologic examination concluded to the diagnosis of a CCC of the ovary. The young age and the immunohistochemical staining for AFP are unusual and misleading features for a CCC. Our objective about this particular case is to discuss the anatomoclinical aspects of the CCC of the ovary and to prove the role of immunohistochemistry in the differential diagnosis.

Choroid plexus adenoma in a child: expanding the clinical and pathological spectrum.

PubMed

Prendergast, Nicole; Goldstein, Jeffrey D; Beier, Alexandra D

2018-04-01

Primary choroid plexus tumors encompass a variety of tumors, with choroid plexus papilloma and carcinoma being the most common. Also in the differential diagnosis is the rare benign choroid plexus adenoma. As these tumors are infrequently described, the histological profile continues to evolve. The authors present a case with unusual characteristics that will broaden the pathological spectrum for choroid plexus adenomas.

Mastocytosis presenting as a skeletal disorder.

PubMed Central

Delsignore, J. L.; Dvoretsky, P. M.; Hicks, D. G.; O'Keefe, R. J.; Rosier, R. N.

1996-01-01

Mastocytosis is a rare disease of mast-cell proliferation with involvement of the reticuloendothelial systems including skin, bone, gastrointestinal tract, liver, lungs, spleen, and lymph nodes. Systemic mastocytosis is characterized by a combination of symptoms that relate to the mast cells' release of vasoactive substances, such as histamine. These symptoms include urticaria pigmentosa, flushing, syncope with hypotension, headaches, nausea, vomiting, diarrhea, and occasional bronchospasm. The diagnosis of mastocytosis is typically based on the presence of the characteristic extraosseus manifestations. A well recognized roentgenographic feature seen in 70-75% of patients with mastocytosis is diffuse osteolysis and osteosclerosis, affecting primarily the axial skeleton and the ends of the long bones. Rarely, the bony involvement consists of generalized osteoporosis, which may lead to pathologic fracture, or solitary lesions (mastocytomas) which may cause symptoms of localized pain. Four patients with previously diagnosed systemic mastocytosis had unusual skeletal lesions. Clinical and laboratory evaluation of these patients eventually led to the correct diagnosis of systemic mastocytosis. We report these four cases to emphasize the need for thorough evaluation of unusual musculoskeletal findings in association with extraosseus symptoms that are characteristic of mastocytosis. Knowledge of a wide differential diagnosis of unusual skeletal lesions should include systemic mastosytosis. Images Figure 1 Figure 2 Figure 3A Figure 3B Figure 4 Figure 5A Figure 5B-5C Figure 6 PMID:9129284

[An unusual hospitalization under constraint].

PubMed

Azmani, H; Bier, J C; Lotstra, F

2009-01-01

The case report describes a 45-year old man presenting of the behavioral problems and an aphasia of Wernicke, hospitalized under constraint. The urinary screening in the search of psychotropic substances is positive for the cannabis and the amphetamines. The neurological localization is confirmed by cerebral CT-scan. The discussion relates on the differential diagnosis between a schizophasia and an aphasia of Wernicke, on the difficulty of a somatic diagnosis among patients agitated under the effect of a drug and to the tendency to hospitalize those too quickly under constraint, on the noxious effect of drugs on the brain.

Solitary juvenile xanthogranuloma with tibial involvement: a case report.

PubMed

Zhi, Yunlai; Duan, Yuhe; Zhang, Hong; Yin, Xiaofeng; Qu, Tingting; Guan, Ge; Su, Lin; Dong, Qian

2015-01-01

Juvenile xanthogranuloma (JXG) is a rare disease that is part of a spectrum of histiocytic dendritic cell disorders. Most patients present with a solitary cutaneous lesion; however, others present with extracutaneous manifestations or even with systemic involvement. We present the first report of an 11-month-old girl in whom was diagnosed a unifocal extracutaneous JXG involving the tibia. Histological and immunohistochemical staining results are presented. A review of the literature on these unusual lesions is conducted, along with discussion of their differential diagnosis and key aspects of the patient's evaluation, management, and pathological diagnosis.

Phaeochromocytoma--"the great mimic": an unusual presentation.

PubMed

Mitchell, Louisa; Bellis, Fionn

2007-09-01

We report the case of a patient who presented to the emergency with the common symptoms of chest pain and dyspnoea and who was subsequently found to have the rare diagnosis of a phaeochromocytoma. We highlight the need to maintain a high index of suspicion of the various differential diagnoses in any case presentation and the importance of trusting clinical intuition. We comment on the benefit of the use of emergency ultrasound.

Cardiac magnetic resonance in myocardial disease.

PubMed

Sechtem, U; Mahrholdt, H; Vogelsberg, H

2007-12-01

For a number of patients it is difficult to diagnose the cause of cardiac disease. In such patients cardiac magnetic resonance is useful for helping to make a differential diagnosis between ischaemic and dilated cardiomyopathy; identifying patients with myocarditis; diagnosing cardiac involvement in sarcoidosis and Chagas' disease; identifying patients with unusual forms of hypertrophic cardiomyopathy and those with continuing myocardial damage; and defining the sequelae of ablation treatment for hypertrophic obstructive cardiomyopathy.

[Is bone biopsy necessary for the diagnosis of metabolic bone diseases? Necessity of bone biopsy].

PubMed

Ito, Akemi; Yajima, Aiji

2011-09-01

Histological analysis of undecalcified bone biopsy specimens is a valuable clinical and research tool for studying the etiology, pathogenesis and treatment of metabolic bone diseases. In case of osteoporosis, bone biopsy is not usually required for the diagnosis ; however, bone histomorphometry may be useful in rare cases with unusual skeletal fragility. Bone histomorphometry also provides valuable information on the mechanism of action, safety and efficacy of new anti-osteoporosis drugs. Bone histomorphometry is useful for the diagnosis and the assessment of treatment response in rickets/osteomalacia and in CKD-MBD (chronic kidney disease-mineral and bone disorders) . In Japan, bone biopsy is often performed to establish the diagnosis of Paget's disease of bone, especially to differentiate it from metastatic bone disease.

Familial endocrine myxolentiginosis.

PubMed

Panossian, D H; Marais, G E; Marais, H J

1995-11-01

We present an unusual case of a left atrial myxoma as a feature of a familial mesoectodermal disorder and review the literature. The new term "familial endocrine myxolentiginosis" is proposed, which is descriptive of the major clinical components of the syndrome. Myriad features of this disorder include (1) cardiac myxomas; (2) cutaneous myxomas; (3) multiple lentigines or blue nevi, particularly of the head and neck; (4) bilateral primary pigmented nodular adrenocortical hyperplasia; (5) unusual testicular tumors; (6) pituitary tumors; (7) myxoid fibroadenomas of the breast; (8) myxomatous disorder of the stroma of the breast; (9) ductal adenoma of the breast; and (10) psammomatous melanotic schwannoma. A tentative diagnosis is suggested by identifying two features and a definitive diagnosis is made by three or more features. The clinical and pathologic features of cardiac myxoma in familial endocrine myxolentiginosis are identical to those of familial cardiac myxoma: age < 40 years, atypical locations, multicentric origins, and recurrent presentations. A Venn diagram classification for cardiac myxomas is proposed. We include photographic, echocardiographic, biopsy, and adrenal computerized tomography documentation in our patient. Recognition of this disorder is important because of its clinical, surgical, and genetic implications. The availability of transesophageal echocardiographic technology should allow early diagnosis of this underdiagnosed entity. Clinicians should consider this entity in the differential diagnosis of their patients with any one of these manifestations.

An unusual cause of recurrent spontaneous pneumothorax: the Mounier-Kuhn syndrome.

PubMed

Unlu, Elif Nisa; Annakkaya, Ali Nihat; Balbay, Ege Gulec; Aydın, Leyla Yilmaz; Safcı, Sinem; Boran, Mertay; Guclu, Derya

2016-01-01

We present a case of 63-year-old man who was referred to the emergency department with a right-sided pneumothorax. He had a history of spontaneous pneumothorax for 2 times. The chest computed tomographic scan showed tracheobronchomegaly with an increase in the diameter of the trachea and right and left main bronchus. Fiberoptic bronchoscopy revealed enlarged trachea and both main bronchus with diverticulas. These findings are consistent with a diagnosis of Mounier-Kuhn syndrome. Mounier-Kuhn syndrome is a rare clinical and radiologic condition. It is characterized by a tracheal and bronchial dilation. Diagnosis is made by computed tomography and bronchoscopy. Mounier-Kuhn syndrome should be kept in mind in the differential diagnosis of recurrent spontaneous pneumothorax.

Phaeochromocytoma—“the great mimic”: an unusual presentation

PubMed Central

Mitchell, Louisa; Bellis, Fionn

2007-01-01

We report the case of a patient who presented to the emergency with the common symptoms of chest pain and dyspnoea and who was subsequently found to have the rare diagnosis of a phaeochromocytoma. We highlight the need to maintain a high index of suspicion of the various differential diagnoses in any case presentation and the importance of trusting clinical intuition. We comment on the benefit of the use of emergency ultrasound. PMID:17711956

Desmoplastic small round cell tumor with sphere-like clusters mimicking adenocarcinoma.

PubMed

Hattori, Yukinori; Yoshida, Akihiko; Sasaki, Naoshi; Shibuki, Yasuo; Tamura, Kenji; Tsuta, Koji

2015-03-01

Desmoplastic small round cell tumor (DSRCT) is a rare and aggressive neoplasm that predominantly affects young men. DSRCT often presents as multiple nodules on the serosal surface and is histologically categorized as a small round cell tumor. However, the cytological spectrum of DSRCT is not fully understood because of its rarity. Here, we report an unusual case of DSRCT that showed spheres of cells without stromal cores in pleural fluid cytology material, a finding that is typically associated with metastatic adenocarcinoma and mesothelioma. The specimen from a simultaneous needle biopsy showed the classic histology of DSRCT, comprising nests of small round cells set in desmoplasia. The diagnosis of DSRCT was further supported by immunohistochemical coexpression of cytokeratin and desmin, as well as Ewing sarcoma breakpoint region 1 gene rearrangement, which was determined by fluorescence in situ hybridization. The unusual cytological finding in this case illustrates a potential pitfall of the cytological diagnosis of pleural fluid or ascites. DSRCT should not be excluded from the differential diagnosis when sphere-like round cell clusters are observed in pleural or abdominal effusion, particularly in young male patients. © 2014 Wiley Periodicals, Inc.

Unusual presentation of a skull base mass lesion in sarcoidosis mimicking malignant neoplasm: a case report.

PubMed

Shijo, Katsunori; Moro, Nobuhiro; Sasano, Mari; Watanabe, Mitsuru; Yagasaki, Hiroshi; Takahashi, Shori; Homma, Taku; Yoshino, Atsuo

2018-05-29

Sarcoidosis is a multi-organ disease of unknown etiology characterised by the presence of epithelioid granulomas, without caseous necrosis. Systemic sarcoidosis is rare among children, while neurosarcoidosis in children is even rarer whether it is systemic or not. We described the case of a 12-year-old boy who presented with monocular vision loss accompanied by unusual MRI features of an extensive meningeal infiltrating mass lesion. The patient underwent surgical resection (biopsy) via a frontotemporal craniotomy to establish a definitive diagnosis based on the histopathology, since neurosarcoidosis remains a very difficult diagnosis to establish from neuroradiogenic imagings. Based on the histopathology of the resected mass lesion, neurosarcoidosis was diagnosed. On follow-up after 3 months of steroid therapy, the patient displayed a good response on the imaging studies. MRI revealed that the preexisting mass lesion had regressed extremely. We also conducted a small literature review on imaging studies, manifestations, appropriate treatments, etc., in particular neurosarcoidosis including children. Although extremely rare, neurosarcoidosis, even in children, should be considered in the differential diagnosis of skull base mass lesions to avoid unnecessary aggressive surgery and delay in treatment, since surgery may have little role in the treatment of sarcoidosis.

Dedifferentiated Liposarcoma Mimicking a Primary Colon Mass.

PubMed

Hollowoa, Blake; Lamps, Laura W; Mizell, Jason S; English, George W; Bridge, Julia A; Ram, Roopa; Gardner, Jerad M

2018-04-01

Dedifferentiated liposarcoma is typically a nonlipogenic high-grade sarcoma that arises from well-differentiated liposarcoma. It most commonly presents as a large mass in the retroperitoneum. Significant involvement of the gastrointestinal tract by dedifferentiated liposarcoma is uncommon. We present a unique case of dedifferentiated liposarcoma radiographically mimicking a primary colon mass with resulting intussusception; stranding of the adjacent adipose tissue was presumed to be a secondary reactive change. On histopathologic analysis of the hemicolectomy specimen, a high-grade sarcoma was seen growing through the colonic wall, and the majority of the surrounding pericolonic adipose tissue was actually composed of well-differentiated liposarcoma with characteristic fibrous bands rather than benign fat with reactive fibrosis. This case raises awareness that well-differentiated liposarcoma and dedifferentiated liposarcoma can rarely present as a primary intestinal mass mimicking colon cancer or other more common entities. When radiographic examination shows a perigastrointestinal or retroperitoneal fatty mass and/or stranding of the fat adjacent to a solid gastrointestinal mass, this unusual scenario should be considered in the radiologic differential diagnosis. Pathologists should keep dedifferentiated liposarcoma in the initial histologic differential diagnosis for any high-grade spindle cell tumor of the retroperitoneum or intra-abdominal visceral organs.

Unusual tremor syndromes: know in order to recognise.

PubMed

Ure, Robert J; Dhanju, Sanveer; Lang, Anthony E; Fasano, Alfonso

2016-11-01

Tremor is a common neurological condition in clinical practice; yet, few syndromes are widely recognised and discussed in the literature. As a result, there is an overdiagnosis of well-known causes, such as essential tremor. Many important unusual syndromes should be considered in the differential diagnosis of patients with tremor. The objective of this review is to provide broad clinical information to aid in the recognition and treatment of various unusual tremor syndromes in the adult and paediatric populations. The review comprised of a comprehensive online search using PubMed, Ovid database and Google Scholar to identify the available literature for each unusual tremor syndrome. The review includes fragile X-associated tremor/ataxia syndrome, spinocerebellar ataxia type 12, tremors caused by autosomal recessive cerebellar ataxias, myorhythmia, isolated tongue tremor, Wilson's disease, slow orthostatic tremor, peripheral trauma-induced tremor, tardive tremor and rabbit syndrome, paroxysmal tremors (hereditary chin tremor, bilateral high-frequency synchronous discharges, head tremor, limb-shaking transient ischaemic attack), bobble-head doll syndrome, spasmus nutans and shuddering attacks. Rare tremors generally present with an action tremor and a variable combination of postural and kinetic components with resting tremors less frequently seen. The phenomenology of myorhythmia is still vague and a clinical definition is proposed. The recognition of these entities should facilitate the correct diagnosis and guide the physician to a prompt intervention. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/.

Isolated muscular sarcoidosis causing fever of unknown origin: The value of gallium-67 imaging

DOE Office of Scientific and Technical Information (OSTI.GOV)

Patel, N.; Krasnow, A.; Sebastian, J.L.

1991-02-01

An unusual case of a patient with a long-standing fever of unknown origin (FUO) is presented whose gallium-67 ({sup 67}Ga) images revealed increased activity only in the calf muscles bilaterally. Other imaging modalities also failed to show chest or other abnormal findings. Subsequent biopsy of the right gastrocnemius muscle revealed noncaseating granulomas consistent with the diagnosis of sarcoidosis. When using {sup 67}Ga to evaluate a patient with a FUO, imaging of the extremities should always be included. Also, when abnormal Ga-67 uptake is present in the extremities, sarcoidosis should be included in the differential diagnosis.

Rabbitfish ("aras"): an unusual source of ciguatera poisoning.

PubMed

Raikhlin-Eisenkraft, Bianca; Bentur, Yedidia

2002-01-01

Ciguatera poisoning is the commonest fish-borne seafood intoxication. It is endemic to warm water tropical areas and is caused by consumption of bottom-dwelling shore reef fish, mostly during spring and summer. The causative agent, ciguatoxin, is a heat-stable ester complex that becomes concentrated in fish feeding on toxic dinoflagellates. The common clinical manifestations are a combination of gastrointestinal and neurologic symptoms. Severe poisoning may be associated with seizures and respiratory paralysis. To describe a series of patients who sustained ciguatera poisoning in an uncommon region and from an unexpected source. Two families complained of a sensation of "electrical currents," tremors, muscle cramps, nightmares, hallucinations, agitation, anxiety and nausea of varying severity several hours after consuming rabbitfish ("aras"). These symptoms lasted between 12 and 30 hours and resolved completely. The temporal relationship to a summer fish meal, the typical clinical manifestations along with the known feeding pattern of the rabbitfish suggested ciguatera poisoning. The Eastern Mediterranean basin is an unusual region and the rabbitfish an unusual source for ciguatera poisoning. There are no readily available and reliable means for detecting ciguatoxin in humans. A high index of suspicion is needed for diagnosis and a thorough differential diagnosis is essential to eliminate other poisonings, decompression sickness and encephalitis. Supportive therapy is the mainstay of treatment.

Imaging findings of juvenile xanthogranuloma of the penis.

PubMed

Bradford, Ray K; Choudhary, Arabinda K

2009-02-01

Juvenile xanthogranuloma (JXG) is a rare benign self-limiting lesion presenting in early childhood. It is the commonest variant of non-Langerhans cell histiocytosis and usually presents as a cutaneous mass. It might have a systemic component and also might be associated with other conditions, notably neurofibromatosis and juvenile chronic myelogenous leukemia. Penile masses are unusual in childhood and we describe a case of JXG involving the penis. Although four cases of JXG of the penis have been reported in the literature, this is the first with imaging of the penile lesion. We discuss the clinical and radiological findings, differential diagnosis and management of these cases. High awareness of these lesions in the differential diagnosis of penile masses presenting in early childhood is important to avoid potentially unnecessary ablative genital surgery. Careful assessment should also be made for any systemic involvement and for associated pathologies.

Differential diagnosis and cancer staging of a unique case with multiple nodules in the lung - lung adenocarcinoma, metastasis of colon adenocarcinoma, and colon adenocarcinoma metastasizing to lung adenocarcinoma.

PubMed

Bai, Yun; Qiu, Jianxing; Shang, Xueqian; Liu, Ping; Zhang, Ying; Wang, Ying; Xiong, Yan; Li, Ting

2015-05-01

Lung cancer is the most common cancer in the world. Despite this, there have been few cases of simultaneous primary and metastatic cancers in the lung reported, let alone coexisting with tumor-to-tumor metastasis. Herein, we describe an extremely unusual case. A 61-year-old man with a history of colon adenocarcinoma was revealed as having three nodules in the lung 11 months after colectomy. The nodule in the left upper lobe was primary lung adenocarcinoma, the larger one in the right upper lobe was a metastasis of colon adenocarcinoma, and the smaller one in the right upper lobe was colon adenocarcinoma metastasizing to lung adenocarcinoma. Our paper focused on the differential diagnosis and cancer staging of this unique case, and discussed the uncommon phenomenon of the lung acting as a recipient in tumor-to-tumor metastasis.

[Unusual location of giant seborrhoeic keratoses].

PubMed

Naciri, Ilhame; Ismaili, Nadia

2017-01-01

Seborrhoeic keratoses (SK) are benign tumors that mainly occur in the head and in the trunk. Their size generally varies from a few millimeters up to a few centimeters. Giant lesions are very rare but pose a problem in terms both of treatment and transformation. Their occurrence in the genital area is even more rare, posing a problem in differential diagnosis of genital warts. Differentiation is only based on histopathology. We report the case of a 80-year old man, with no particular past medical history, who presented with asymptomatic abdominal and genital lesions evolving over the last twenty years. Clinical examination showed four hyperpigmented, humped, well-defined tumors, with warty surface measuring 2-10 cm along its longer axis (A). Dermoscopic examination showed cerebriform convolutions appearance suggesting seborrhoeic keratoses (B). Histology confirmed the diagnosis, without signs of viral infection or malignant transformation. The patient underwent surgical resection resulting in permanent scar.

[MALIGNANT LYMPHOMAS OF THE VULVA- DIAGNOSIS AND THERAPY].

PubMed

Chokoeva, Aa; Tchernev, G

2015-01-01

Primary malignant lymphomas affecting the female reproductive system are unusual, accounting for about 30% of all lymphomas. The majority of them are represented by non-Hodgkin lymphomas (over 90%), as their location most commonly involved the ovarian (49%), followed by the uterus (29%), fallopian tubes (11%), vagina (7%), and only in 4% of the cases, the primary lymphomas affecting the vulva. Although rare, lymphomas of the vulva are characterized by high proliferative potential, aggressive clinical course and poor prognosis and may lead to rapid vulvar and perineal destruction. Due to the rarity of their occurrence in the vulvo-vaginal area and their non-specific clinical manifestations, lymphomas with such location are often a diagnostic challenge and require a wide range of differential diagnoses. We present the epidemiological structure, the clinical and immunohistochemical markers characteristic of the most common lymphomas with vulvar localization, in order to emphasize their role in the differential diagnosis of vulvar tumor masses.

Collagenous spherulosis presenting as a mass of the breast.

PubMed

Jan, Yee-Jee; Li, Mu-Chun; Ho, William L

2002-10-01

Collagenous spherulosis (CS) is a rare benign lesion which typically presents as an incidental microscopic finding accompanying other breast lesions. Pathologists who are not familiar with this entity occasionally misdiagnose CS as adenoid cystic carcinoma (ACC), cribriform ductal carcinoma in situ (C-DCIS), or atypical intraductal hyperplasia (AIH), especially when it presents as a mass. It is of utmost importance to differentiate benign CS from its malignant mimics in order to avoid unnecessary treatment. We report an unusual case of CS manifested as a mass in the right breast of a 45-year-old female and discuss the problems of differential diagnosis and histogenesis.

Inflammatory Myofibroblastic Tumor Mimicking Apical Periodontitis.

PubMed

Adachi, Makoto; Kiho, Kazuki; Sekine, Genta; Ohta, Takahisa; Matsubara, Makoto; Yoshida, Takakazu; Katsumata, Akitoshi; Tanuma, Jun-ichi; Sumitomo, Shinichiro

2015-12-01

Inflammatory myofibroblastic tumors (IMTs) are rare. IMTs of the head and neck occur in all age groups, from neonates to old age, with the highest incidence occurring in childhood and early adulthood. An IMT has been defined as a histologically distinctive lesion of uncertain behavior. This article describes an unusual case of IMT mimicking apical periodontitis in the mandible of a 42-year-old man. At first presentation, the patient showed spontaneous pain and percussion pain at teeth #28 to 30, which continued after initial endodontic treatment. Panoramic radiography revealed a radiolucent lesion at the site. Cone-beam computed tomographic imaging showed osteolytic lesions, suggesting an aggressive neoplasm requiring incisional biopsy. Histopathological examination indicated an IMT. The lesion was removed en bloc under general anesthesia, and the patient manifested no clinical evidence of recurrence for 24 months. Lesions of nonendodontic origin should be included in the differential diagnosis of apical periodontitis. Every available diagnostic tool should be used to confirm the diagnosis. Cone-beam computed tomographic imaging is very helpful for differential diagnosis in IMTs mimicking apical periodontitis. Copyright © 2015 American Association of Endodontists. Published by Elsevier Inc. All rights reserved.

Biliary mucinous cystic neoplasm: a case report and review of the literature.

PubMed

Safari, Mohammad Taghi; Shahrokh, Shabnam; Miri, Mohammad Bagher; Foroughi, Forough; Sadeghi, Amir

2016-12-01

Hepatobiliary cystadenomas (HBC) is a rare neoplasm which comprising less than one percent of liver cystic neoplasms. Although it's known as a benign tumor, but they have a potential for neoplastic transformation. Making a proper diagnosis and ruling out of other differential diagnosis is important because of different treatment. In the present study, we described a case of HBC manifested as idiopathic dominant biliary stricture in common hepatic duct (CHD), on the basis of spiral CT scan and MRI, and elevated CA19-9. With a probable diagnosis of malignant biliary stricture, she underwent ERCP and cholangioscopy that were non-diagnostic and final diagnosis was made surgically. HBCs usually found incicentally as a cystic lesion and biliary stricture without visible cyst in imaging like that seen in cholangiocarcinoma is very unlikely. In truth, this patient is an unusual manifestation of one rare disease.

Biliary mucinous cystic neoplasm: a case report and review of the literature

PubMed Central

Safari, Mohammad Taghi; Shahrokh, Shabnam; Miri, Mohammad Bagher; Foroughi, Forough; Sadeghi, Amir

2016-01-01

Hepatobiliary cystadenomas (HBC) is a rare neoplasm which comprising less than one percent of liver cystic neoplasms. Although it’s known as a benign tumor, but they have a potential for neoplastic transformation. Making a proper diagnosis and ruling out of other differential diagnosis is important because of different treatment. In the present study, we described a case of HBC manifested as idiopathic dominant biliary stricture in common hepatic duct (CHD), on the basis of spiral CT scan and MRI, and elevated CA19-9. With a probable diagnosis of malignant biliary stricture, she underwent ERCP and cholangioscopy that were non-diagnostic and final diagnosis was made surgically. HBCs usually found incicentally as a cystic lesion and biliary stricture without visible cyst in imaging like that seen in cholangiocarcinoma is very unlikely. In truth, this patient is an unusual manifestation of one rare disease. PMID:28224034

Unusual early-onset Huntingtons disease.

PubMed

Vargas, Antonio P; Carod-Artal, Francisco J; Bomfim, Denise; Vázquez-Cabrera, Carolina; Dantas-Barbosa, Carmela

2003-06-01

Huntington's disease is an autosomal dominant progressive neurodegenerative disorder characterized by involuntary movements, cognitive decline, and behavioral disorders leading to functional disability. In contrast to patients with adult onset, in which chorea is the major motor abnormality, children often present with spasticity, rigidity, and significant intellectual decline associated with a more rapidly progressive course. An unusual early-onset Huntington's disease case of an 11-year-old boy with severe hypokinetic/rigid syndrome appearing at the age of 2.5 years is presented. Clinical diagnosis was confirmed by polymerase chain reaction study of the expanded IT-15 allele with a compatible size of 102 cytosine-adenosine-guanosine repeats L-Dopa mildly ameliorated rigidity, bradykinesia, and dystonia. We conclude that Huntington's disease should be included in the differential diagnoses of regressive syndromes of early childhood.

An unusual presentation of presentation of a branchial cleft cyst.

PubMed

Vemula, Rahul; Greco, Gregory

2012-05-01

Branchial cleft cysts are congenital anomalies that arise from the aberrant embryological development of the branchial apparatus. The location of a branchial cleft cyst is determined by which branchial cleft failed to obliterate during embryological development, with the second branchial cleft cyst being the most commonly recognized lesion. Although the most common location for branchial cleft cysts is between the external auditory canal and the level of the clavicle, the literature does describe unusual locations. We present a case a 15-year-old boy who had an enlarging lesion on his back that had been present since birth. A presumptive radiologic diagnosis of lymphangioma circumscriptum was made. Upon excision of the lesion and pathologic examination, it was determined to be a branchial cleft cyst. The patient had an uneventful postoperative course, and no recurrence was noted after a 2-year follow-up. Our clinical report demonstrates a lesion on the posterior thorax that proved to be a branchial cleft cyst and should always be part of the differential diagnosis for soft tissue masses of the thorax.

[Streptococcus milleri: An unusual cause of skull extensive osteomyelitis in an immunocompetent patient].

PubMed

Duquenne, C; Dernis, E; Zehrouni, A; Bizon, A; Duquenne, M

2017-09-01

Streptococcus milleri (Streptococcus anginosus, intermedius and constellatus) are commensal organisms, which can become pathogenic and cause infection with frequent abscess formation, local or metastatic extension. Osteomyelitis of the skull has been rarely reported in this type of infection. Skull osteomyelitis due to Streptococcus milleri is reported in a 61-year-old immunocompetent man without any medical history, occurring 10 months after a head injury without any wound or complication at initial presentation. A progressive right parieto-occipital headache with worsening and increased acute phase reactants evoked a giant cell arteritis. After few days of corticosteroid therapy (0.5 mg/kg/day), diagnosis of subcutaneous abscess associated to an extensive osteomyelitis of the skull due to Streptococcus milleri was diagnosed. The outcome was favorable after drainage of one liter of pus, irrigation, debridement and antibiotherapy by amoxicillin for 8 weeks. It is necessary to discuss the differential diagnosis of giant cell arteritis particularly when symptoms are unusual. Even a short-term corticosteroid therapy may dramatically exacerbate an undetected infection. Copyright © 2017. Published by Elsevier SAS.

Unusual intraconal localization of orbital giant cell angiofibroma.

PubMed

Ekin, Meryem Altin; Ugurlu, Seyda Karadeniz; Cakalagaoglu, Fulya

2018-01-01

Giant cell angiofibroma (GCA) is a recently reported rare soft-tissue tumor that can develop in various sites including orbit. Orbital GCAs were mainly located in the eyelid or extraconal regions such as lacrimal gland and conjunctiva. We report an atypical case of a GCA arising in the intraconal area of the orbit in a 65-year-old male patient. The tumor was excised in total by lateral orbitotomy. Histological and immunohistochemical features were consistent with the diagnosis of GCA. No recurrence was observed during the follow-up of over 2 years. GCA is a rare tumor that should be considered in the differential diagnosis of intraconal orbital tumors. Complete surgical removal is the current optimal treatment option.

Vesicular thick-walled swollen hyphae in pulmonary zygomycosis.

PubMed

Kimura, Masatomo; Ito, Hiroyuki

2009-03-01

An autopsy case of pulmonary zygomycosis in a patient with rheumatoid arthritis on immunosuppressive therapy is presented herein. There was a pulmonary cavitated infarct caused by mycotic thrombosis. Thin-walled narrow hyphae and vesicular thick-walled swollen hyphae were found on the pleural surface and in the necrotic tissue at the periphery of the cavity. Findings of such shaped fungal elements may cause erroneous histopathological diagnosis because pauciseptate broad thin-walled hyphae are usually the only detectable fungal elements in zygomycosis tissue. Although immunohistochemistry confirmed these unusual elements to be zygomycetous in the present case, it is important for the differential diagnosis to be aware that zygomycetes can form thin narrow hyphae and vesicular thick-walled swollen hyphae.

Fatal fungaemia due to Sporothrix schenckii.

PubMed

Castrejón, O V; Robles, M; Zubieta Arroyo, O E

1995-01-01

A clinical case is reported of a 78-year-old male with antecedents of diabetes and alcoholism who was hospitalized because he showed cutaneous lesions on the face and extremities suggesting cutaneous tuberculosis, but after a first histological study cutaneous leishmaniasis was erroneously diagnosed. Because of some unusual characteristics of the patient, the skin biopsies were carefully re-examined, as well as blood smears, which revealed elongated yeast form-like cells suggestive of Sporothrix schenckii. The diagnosis was confirmed when the fungus grew in mice and in Sabouraud cultures inoculated with blood samples from the patient. It is recommended that Sp. schenckii is included in the differential diagnosis of ulcerative cutaneous lesions in patients from Mexican humid areas.

Muscular hypertrophy of the left diaphragmatic crus: an unusual cause of a paraspinal "mass".

PubMed

Woodring, J H; Bognar, B

1998-04-01

We present a case of marked muscular hypertrophy of the muscular portion of the diaphragm and of the diaphragmatic crura in a professional opera singer. In this case the right and left crus each measured 20 mm in maximum thickness. The left crus, by nature of its vertical orientation in the sagittal plane, produced marked deviation of the inferior left paraspinal line near the diaphragm mimicking a retrocrural or paraspinal mass on the posteroanterior chest radiograph. The correct diagnosis was made by computed tomography. Muscular hypertrophy of the diaphragmatic crura should be included in the differential diagnosis of retrocrural or paraspinal masses at the level of the diaphragm.

Demodex folliculitis presenting as periocular vesiculopustular rash.

PubMed

Yun, Samuel H; Levin, Flora; Servat, Javier

2013-12-01

To report an unusual case of Demodex folliculitis presenting as periocular vesiculopustular rash. Case report. A 68 year-old woman presented with a unilateral periocular rash that was initially treated by her primary ophthalmologist with topical steroids and antivirals. Slit-lamp examination revealed severe bilateral blepharitis, right greater than left, with waxy sleeves around the eyelashes. The diagnosis of Demodex infestation was considered. Treatment with daily lid scrub with polyhexamethylene biguanide (PHMB), 1,2-hexanediol and 1,2-octanediol (OCuSOFT PLUS) and erythromycin ointment twice a day resulted in complete resolution of the symptoms after 4 weeks. Ophthalmologists should be aware of Demodex and consider it in the differential diagnosis of periocular skin lesions.

Aspecific membranous laryngitis after infectious mononucleosis.

PubMed

Di Girolamo, S; Anselmi, M; Piccini, A; De Lauretis, A; Passàli, D

1996-01-01

Aspecific membranous laryngitis is an unusual but very serious complication of viral infections. Here, we report the uncommon finding of infectious mononucleosis characterized by aspecific membranous laryngitis with fever, dysphonia and severe dyspnea in a 12-year-old girl. Endoscopy showed mucopus and sloughed epithelium forming a pseudomembrane covering almost all the supraglottal region and a supraglottal swelling including the epiglottis and arytenoids. The importance of suspecting diphtheria, epiglottitis, viral or bacterial croup and laringo-tracheo-bronchitis and including them in the differential diagnosis is emphasized.

Takotsubo cardiomyopathy associated with cardiac arrest following cardiac surgery: new variants of an unusual syndrome.

PubMed

Vernick, William J; Hargrove, W Clark; Augoustides, John G; Horak, Jiri

2010-11-01

Takotsubo cardiomyopathy is increasingly being recognized in the perioperative period. To date, there have been only three previous cases involving cardiac surgery reported and this represents the fourth case. The precise mechanism remains elusive, and there is no definitive management strategy. It appears that the syndromes course in cardiac surgical patients is self-limited. This syndrome must now be considered in the differential diagnosis of postcardiotomy cardiac failure. © 2010 Wiley Periodicals, Inc.

Asymptomatic petechial eruption on the lower legs.

PubMed

Mendese, Gary; Grande, Donald

2013-09-01

The authors report an unusual case of Rocky Mountain spotted fever that presented as an asymptomatic petechial eruption on the lower legs. Rocky Mountain spotted fever is rare in New England and, as such, is typically not on the differential diagnosis when presented with such patients. What began as an asymptomatic eruption progressed to more classic signs of the disease, including a positive Rocky Mountain spotted fever titer. The patient was successfully treated with doxycydine and within a short period of time, was completely back at baseline.

Spontaneous subserosal venous rupture overlying a uterine leiomyoma in a young woman.

PubMed

Jenayah, Amel Achour; Saoudi, Sarah; Sferi, Nour; Skander, Rim; Marzouk, Sofiène Ben; Cherni, Abdallah; Sfar, Ezzeddine; Chelli, Dalenda; Boudaya, Fethia

2017-01-01

Uterine leiomyomas are very common tumors found in women. Rupture of veins on the surface of uterine leiomyoma is an unusual source of hemoperitoneum. It is an extremely uncommon gynaecological cause of hemoperitoneum. It is a life threatening emergency. We report a case of massive intraperitoneal hemorrhage due to rupture of vessels on the surface of subserous leiomyoma. A differential diagnosis of rupture of leiomyoma'ssurface vessel should be considered, while dealing with a case of hemoperitoneum with pelvic mass.

Aerophagia and anesthesia: an unusual cause of ventilatory insufficiency in a neonate.

PubMed

Lalwani, Kirk

2005-10-01

We describe a healthy neonate with abdominal distention, inadequate ventilation, and delayed extubation during anesthesia for minor surgery. Following rectal decompression and successful extubation, extreme abdominal distention recurred postoperatively after ingestion of clear fluids. We elicited a history of frequent and excessive flatus from the parents, and abdominal radiography revealed distended loops of small bowel with small lung volumes suggestive of aerophagia. The differential diagnosis of aerophagia is reviewed, the anesthetic implications discussed, and relevant literature pertaining to this condition summarized.

Aneurysmal bone cyst of the scapula. A case report.

PubMed

Megas, Panagiotis; Papathanassiou, Zafiria G; Kasimatis, George; Papachristou, Dionysios J

2009-10-01

Aneurysmal bone cyst (ABC) is an uncommon, benign but locally destructive bone lesion of unknown origin. Differential diagnosis can be challenging as it shares common radiological and pathological features with other benign and malignant bone lesions. The degree of diagnostic difficulty grows even more when an unusual location has to be taken into account. We report a rare and challenging case of a large primary ABC located at the scapula of a young male, who was surgically treated with subtotal removal of the scapula.

Macrodystrophia Lipomatosa: An Unusual Cause of Localized Gigantism.

PubMed

Maheswari, S Uma; Sampath, V; Ramesh, A; Manoharan, K

2016-01-01

Macrodystrophia lipomatosa (MDL) is a rare congenital form of localized gigantism characterized by progressive overgrowth of all mesenchymal elements with a disproportionate increase in fibro adipose tissue. Here we report a case of 20 years old male who presented with history of painless gradual enlargement of entire left upper limb since childhood. Magnetic resonance imaging and histopathology confirmed the diagnosis of macrodystrophia lipomatosa. This condition has to be differentiated from other causes of localized gigantism, since these conditions differ in their course, prognosis, complications and treatment.

Genital Autoinoculation with Vaccinia: A Look at Two Cases.

PubMed

Whittington, Julie R; Rollene, Nanette L; Gist, Richard S

2018-05-01

Smallpox, or vaccinia, has been eradicated worldwide as a disease; however, it may be weaponized and is thus a required immunization when military members deploy to certain parts of the world. We report two unusual cases of genital autoinoculation following smallpox vaccination. Both patients' lesions resolved without sequelae within 20 d. We advocate for thorough education on this potential vaccination adverse event. These cases highlight the importance of a broad differential diagnosis when dealing with vulvar lesions, particularly in our military population.

Neuroborreliosis and acute encephalopathy: The use of CXCL13 as a biomarker in CNS manifestations of Lyme borreliosis.

PubMed

Karrasch, Matthias; Fingerle, Volker; Boden, Katharina; Darr, Andreas; Baier, Michael; Straube, Eberhard; Nenadic, Igor

2018-02-01

We report the case of an 80-year-old patient with acute onset confusion initially suspected to reflect delirium in incipient Alzheimer's disease. Cerebrospinal fluid tests revealed an unusually severe form of neuroborreliosis, which resolved following antibiotic treatment. This was mirrored in the measurement of CXCL13, which is suggested as a complementary biomarker. Clinical implications for screening, differential diagnosis and treatment are discussed. Copyright © 2017 Elsevier GmbH. All rights reserved.

IgG4-related Mikulicz's disease associated with thyroiditis: a case report and review of the literature.

PubMed

Zhang, Yujiao; Du, Yi; Li, Kaijun; He, Jianfeng

2014-03-01

To report an unusual case of IgG4-related Mikulicz's disease associated with thyroiditis. We describe a 25-year-old Chinese man who presented with bilateral, painless swellings of the lachrymal glands, parotid glands, and thyroid nodules. The patient underwent left-sided dacryoadenectomy and the diagnosis of IgG4-related Mikulicz's disease was pathologically confirmed. The size of the right-sided lachrymal gland and parotid glands recovered fundamentally after one month of glucocorticoid therapy. IgG4-related Mikulicz's disease associated with thyroiditis should be considered in the differential diagnosis of bilateral swellings of lachrymal glands, salivary glands, and thyroid nodules. Surgical excision is recommended in order to treat the tumor and to ensure the pathological diagnosis. Glucocorticoid therapy should be considered in association with surgery after removal.

The significance of Bartonella henselae bacterias for oncological diagnosis in children.

PubMed

Mazur-Melewska, Katarzyna; Jończyk-Potoczna, Katarzyna; Mania, Anna; Kemnitz, Paweł; Szydłowski, Jarosław; Służewski, Wojciech; Figlerowicz, Magdalena

2015-01-01

Cat-scratch disease (CSD) is a common infection in children; however, the wide spectrum of its clinical picture may lead to delayed diagnosis. An unusual presentation of CSD includes in the differential diagnosis malignant diseases, Epstein-Barr and cytomegalovirus infections, tuberculosis, and mycobacterioses. The diagnostic procedure is difficult, and it is important to consider CSD as the etiology of untypical lesion. We present the analysis of 22 immunocompetent children treated with the clinical diagnosis of CSD in our hospital. Their ages were 2 to 16 years (mean 9.15 ± 2.2 years). Four of them presented classical papulas at admission time. Asymmetric, local lymphadenopathy was present in 16 patients. Five children, who presented an untypical course of CSD mimicking the oncological process, were analysed carefully. There were 3 patients with skull osteomyelitis, 1 with inflammation of the parotid gland, and 1 with an extra peripharyngeal mass. The diagnosis in these children was based on epidemiological, radiological, serological, and histological factors. About 25 % of children with bartonellosis present an untypical spectrum of symptoms, including the lack of documented cat contact, primary lesions, or peripheral lymphadenopathy. Radiological methods like USG, CT, MRI present the unspecific masses, but they are not enough to distinguish the Bartonella inflammatory and oncological process. The final diagnosis was based on a histological method with additional polymerase chain reaction test. CSD should be considered in differential diagnosis of any patient with untypical lesions located on the head, neck, and upper extremities.

An Unusual Presentation of Neurocysticercosis: A Space-Occupying Lesion in the Fourth Ventricle Associated with Progressive Cognitive Decline.

PubMed

Kurz, Carolin; Schmidt, Veronika; Poppert, Holger; Wilkins, Patricia; Noh, John; Poppert, Sven; Schlegel, Jürgen; Delbridge, Claire; da Costa, Clarissa Prazeres; Winkler, Andrea S

2016-01-01

We communicate a case of a middle-aged Brazilian patient with an unusual presentation of fourth ventricular neurocysticercosis: occurrence of two intraventricular cysts at different locations in the brain within 2 years and cognitive decline as the only neurological symptom. Neurocysticercosis was confirmed by magnetic resonance imaging, serology, histology, and genetic analysis. Neurocysticercosis should be considered as a differential diagnosis in cases with atypical neurologic or psychiatric symptoms, atypical neuroimaging and travel history. Especially, fourth ventricular cysts carry the risk of obstructive hydrocephalus and brainstem compression and therefore should be extirpated completely. If complete removal of the cystic structures cannot be proven in cases with surgically treated neurocysticercosis, anthelminthic therapy and thorough follow-up examinations should be conducted. © The American Society of Tropical Medicine and Hygiene.

Unusual Presentation of Spasm of Near Reflex Mimicking Large-Angle Acute Acquired Comitant Esotropia

PubMed Central

Shanker, Varshini; Nigam, Vishal

2015-01-01

Abstract We report the case of an 11-year-old boy who presented with sudden esotropia, binocular diplopia, and blurred vision. The patient was neurologically normal. He had a large, constant, comitant, alternating esotropia associated with minimal accommodative spasm. Ocular motility and pupillary reactions were normal. He was diagnosed to have spasm of the near reflex presenting as acute onset of esotropia. The esotropia was persistent despite treatment and eventually resolved with prolonged cycloplegic therapy. This unusual case illustrates that spasm of the near reflex can have unique and variable presentations. Spasm of the near reflex needs to be considered in the differential diagnosis of every case of acute, acquired, comitant esotropia. This is the first case of spasm of the near reflex where persistent esotropia is reported in the absence of any neurological disorder. PMID:27928354

Unusual Laboratory Findings in a Case of Norwegian Scabies Provided a Clue to Diagnosis

PubMed Central

Wong, Samson S. Y.; Woo, Patrick C. Y.; Yuen, Kwok-yung

2005-01-01

The diagnosis of Norwegian scabies was missed for a year for an elderly long-term-care facility resident. Serpiginous tracks were noted on the surface of Sabouraud dextrose agar used for fungal culture of the skin scrapings. This unusual laboratory manifestation must alert clinical microbiologists to the possible diagnosis of scabies. PMID:15872307

Unusual intraconal localization of orbital giant cell angiofibroma

PubMed Central

Ekin, Meryem Altin; Ugurlu, Seyda Karadeniz; Cakalagaoglu, Fulya

2018-01-01

Giant cell angiofibroma (GCA) is a recently reported rare soft-tissue tumor that can develop in various sites including orbit. Orbital GCAs were mainly located in the eyelid or extraconal regions such as lacrimal gland and conjunctiva. We report an atypical case of a GCA arising in the intraconal area of the orbit in a 65-year-old male patient. The tumor was excised in total by lateral orbitotomy. Histological and immunohistochemical features were consistent with the diagnosis of GCA. No recurrence was observed during the follow-up of over 2 years. GCA is a rare tumor that should be considered in the differential diagnosis of intraconal orbital tumors. Complete surgical removal is the current optimal treatment option. PMID:29283151

Bilateral Breast Metastases from Vulvar Carcinoma: A Case Report and Literature Review

PubMed Central

Kalogerakos, K.; Dimopoulos, Johannes Carl Athanasios; Kalinoglou, N.

2017-01-01

Vulvar carcinoma is a rare disease that accounts for 3–5% of all gynecologic malignancies. Breast represents an unusual site of metastasis and only a few cases are reported. We describe the first case of bilateral metastatic breast carcinoma of vulvar origin, at an 80-year-old female patient. Six months after treatment of her primary disease, she presented with bilateral metastatic squamous cell breast carcinoma. Diagnosis was based on clinical, radiological, and histological facts. Breast although rare is another potential site of metastasis in vulvar cancer and thus mammary gland examination should be considered in the follow-up of these patients. Differential diagnosis between primary and metastatic lesions is of utmost importance for appropriate management. PMID:28487793

A rare case of perforated "sub-hepatic appendicitis" - a challenging differential diagnosis of acute abdomen based on the combination of appendicitis and maldescent of the caecum.

PubMed

Chiapponi, Costanza; Jannasch, Olof; Petersen, Manuela; Lessel, Wiebke; Bruns, Christiane; Meyer, Frank

2017-01-01

Unusual locations of the appendix vermiformis can result in delay in appropriate diagnosis and treatment of appendicitis. So an inflamed appendix in a sub-hepatic caecum caused by caecal maldescent for example can mimic cholecystitis, the pain being localized in the right upper quadrant. Here, we present a case of perforated sub-hepatic appendicitis with peritonitis, requiring open ileocaecal resection. Review of the existing literature has demonstrated that this pathology is uncommon, yet not so rare as one might presume. In conclusion, surgeons should be aware of this possibility in the diagnostic and therapeutic management of acute abdomen. Copyright © 2016. Published by Elsevier GmbH.

Sacrococcygeal Teratoma Presenting with Vaginal Discharge and Polyp in an Infant.

PubMed

Ladenhauf, Hannah N; Brandtner, M Georgina; Schimke, Christa; Ardelean, Mircia A; Metzger, Roman

2018-06-01

Sacrococcygeal teratoma accounts for the most common solid tumor in neonates. Because of improved technology, 50%-70% of cases can be diagnosed antenatally during routine ultrasound screenings. If not diagnosed antenatally, clinical findings at birth are distinct in most cases including a palpable or visible mass. We report an unusual case of a 1-year-old girl who presented with persistent vaginal discharge leading to diagnosis of a mucosal polypoid lesion of the vagina, ultimately revealing a hidden sacrococcygeal teratoma. We suggest thorough investigation of all infants who present with purulent discharge and recurrent vaginal mass; sacrococcygeal teratoma should routinely be considered as a differential diagnosis. Copyright © 2017 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.

Nocardia transvalensis Disseminated Infection in an Immunocompromised Patient with Idiopathic Thrombocytopenic Purpura

PubMed Central

García-Méndez, Jorge; Carrillo-Casas, Erika M.; Rangel-Cordero, Andrea; Leyva-Leyva, Margarita; Xicohtencatl-Cortes, Juan; Arenas, Roberto; Hernández-Castro, Rigoberto

2016-01-01

Nocardia transvalensis complex includes a wide range of microorganisms with specific antimicrobial resistance patterns. N. transvalensis is an unusual Nocardia species. However, it must be differentiated due to its natural resistance to aminoglycosides while other Nocardia species are susceptible. The present report describes a Nocardia species involved in an uncommon clinical case of a patient with idiopathic thrombocytopenic purpura and pulmonary nocardiosis. Microbiological and molecular techniques based on the sequencing of the 16S rRNA gene allowed diagnosis of Nocardia transvalensis sensu stricto. The successful treatment was based on trimethoprim-sulfamethoxazole and other drugs. We conclude that molecular identification of Nocardia species is a valuable technique to guide good treatment and prognosis and recommend its use for daily bases diagnosis. PMID:27313917

Nocardia transvalensis Disseminated Infection in an Immunocompromised Patient with Idiopathic Thrombocytopenic Purpura.

PubMed

García-Méndez, Jorge; Carrillo-Casas, Erika M; Rangel-Cordero, Andrea; Leyva-Leyva, Margarita; Xicohtencatl-Cortes, Juan; Arenas, Roberto; Hernández-Castro, Rigoberto

2016-01-01

Nocardia transvalensis complex includes a wide range of microorganisms with specific antimicrobial resistance patterns. N. transvalensis is an unusual Nocardia species. However, it must be differentiated due to its natural resistance to aminoglycosides while other Nocardia species are susceptible. The present report describes a Nocardia species involved in an uncommon clinical case of a patient with idiopathic thrombocytopenic purpura and pulmonary nocardiosis. Microbiological and molecular techniques based on the sequencing of the 16S rRNA gene allowed diagnosis of Nocardia transvalensis sensu stricto. The successful treatment was based on trimethoprim-sulfamethoxazole and other drugs. We conclude that molecular identification of Nocardia species is a valuable technique to guide good treatment and prognosis and recommend its use for daily bases diagnosis.

Unusual Metastases in Renal Cell Carcinoma: A Single Institution Experience and Review of Literature

PubMed Central

Villarreal-Garza, Cynthia; Perez-Alvarez, Sandra I.; Gonzalez-Espinoza, Ivan R.; Leon-Rodriguez, Eucario

2010-01-01

Background To report location and management of atypical metastases from renal cell carcinoma (RCC) in the Instituto Nacional de Ciencias Medicas e Investigacion Salvador Zubiran (INCMNSZ) in Mexico City. Methods Between 1987 to 2009, 545 patients with RCC were retrospectively identified at the INCMNSZ. Patients with unusual metastases confirmed by histopathology were analyzed. Epidemiological, clinical, diagnosis, treatment and outcome data were reviewed. Results Sixty patients developed 98 unusual metastases secondary to RCC. The group was comprised of 35 men (58.3%), with a median age of 60 years at diagnosis. Metachronous unusual metastases with primary renal cancer were observed in 37 individuals (61.7%). Median time from primary RCC diagnosis to the first unusual metastasis was 16.5 months. Median survival from diagnosis of the first unusual metastasis to death was 5.0 months (CI 95%: 2.8-7.2 months). Patients with an initial solitary metastatic lesion in an unusual site (28.3%) had a better survival compared to patients who primarily presented with multiple metastases, 17.0 (CI 95%: 6.1-27.9) Vs 3.0 months (CI 95%: 0.9-5.1), p = 0.001. Unusual metastasis resection (21 patients) improved survival, 25.0 (CI 95%: 5.1-44.9) Vs 3.0 months (CI 95%: 0.8-5.2), p < 0.0001. No survival difference was observed between localization of unsual metastases (p = 0.72). Conclusions In patients with advanced RCC we suggest an individual diagnostic and surgical approach to achieve complete resection with disease-free margins, even in the presence of unusual metastatic sites, multifocality, or history of metastasectomy. These strategy might provide not only palliation for symptoms, but an opportunity for meaningful disease free and overall survival. PMID:29147198

Enterobius vermicularis worm granuloma mimicking like a pseudo tumor in the anal canal: An unusual clinical presentation.

PubMed

Bharathi, K; Anuradha, S; Chandrasekar, Vc Ajay; Thirunarayanan, R

2012-07-01

Enterobius vermicularis is one of the most common intestinal nematode worldwide. Enterobius rarely causes a symptomatic disease. We report here an unusual case of a 60-year old man who came with a polypoidal growth in the anal canal increasing in size for past 20 years. He had pain and intense itching over the mass. The differential diagnosis of squamous papilloma, fibroma and foreign body granuloma were considered. The mass lesion was excised surgically and sent to the pathology laboratory. The mass turned out to be an "E. vermicularis worm granuloma" by histopathologic examination. Thus, timely reporting and surgical resection of such lesion is necessary to prevent further complications. This case is reported here for the unusual presentation of pinworm as a pseudoneoplasm in the anal canal. Incidence of these cases reflected the poor personal hygiene and improper disposal of human excreta in the rural areas. We insist that health education is the only way to control the spread of helminthic infections that causes a heavy disease burden to our country.

Enterobius vermicularis worm granuloma mimicking like a pseudo tumor in the anal canal: An unusual clinical presentation

PubMed Central

Bharathi, K; Anuradha, S; Chandrasekar, VC Ajay; Thirunarayanan, R

2012-01-01

Enterobius vermicularis is one of the most common intestinal nematode worldwide. Enterobius rarely causes a symptomatic disease. We report here an unusual case of a 60-year old man who came with a polypoidal growth in the anal canal increasing in size for past 20 years. He had pain and intense itching over the mass. The differential diagnosis of squamous papilloma, fibroma and foreign body granuloma were considered. The mass lesion was excised surgically and sent to the pathology laboratory. The mass turned out to be an “E. vermicularis worm granuloma” by histopathologic examination. Thus, timely reporting and surgical resection of such lesion is necessary to prevent further complications. This case is reported here for the unusual presentation of pinworm as a pseudoneoplasm in the anal canal. Incidence of these cases reflected the poor personal hygiene and improper disposal of human excreta in the rural areas. We insist that health education is the only way to control the spread of helminthic infections that causes a heavy disease burden to our country. PMID:23767020

Diagnostic imaging of solitary tumors of the spine: what to do and say.

PubMed

Rodallec, Mathieu H; Feydy, Antoine; Larousserie, Frédérique; Anract, Philippe; Campagna, Raphaël; Babinet, Antoine; Zins, Marc; Drapé, Jean-Luc

2008-01-01

Metastatic disease, myeloma, and lymphoma are the most common malignant spinal tumors. Hemangioma is the most common benign tumor of the spine. Other primary osseous lesions of the spine are more unusual but may exhibit characteristic imaging features that can help the radiologist develop a differential diagnosis. Radiologic evaluation of a patient who presents with osseous vertebral lesions often includes radiography, computed tomography (CT), and magnetic resonance (MR) imaging. Because of the complex anatomy of the vertebrae, CT is more useful than conventional radiography for evaluating lesion location and analyzing bone destruction and condensation. The diagnosis of spinal tumors is based on patient age, topographic features of the tumor, and lesion pattern as seen at CT and MR imaging. A systematic approach is useful for recognizing tumors of the spine with characteristic features such as bone island, osteoid osteoma, osteochondroma, chondrosarcoma, vertebral angioma, and aneurysmal bone cyst. In the remaining cases, the differential diagnosis may include other primary spinal tumors, vertebral metastases and major nontumoral lesions simulating a vertebral tumor, Paget disease, spondylitis, echinococcal infection, and aseptic osteitis. In many cases, vertebral biopsy is warranted to guide treatment.

Asymptomatic Petechial Eruption on the Lower Legs

PubMed Central

Grande, Donald

2013-01-01

The authors report an unusual case of Rocky Mountain spotted fever that presented as an asymptomatic petechial eruption on the lower legs. Rocky Mountain spotted fever is rare in New England and, as such, is typically not on the differential diagnosis when presented with such patients. What began as an asymptomatic eruption progressed to more classic signs of the disease, including a positive Rocky Mountain spotted fever titer. The patient was successfully treated with doxycydine and within a short period of time, was completely back at baseline. PMID:24062875

Macrodystrophia Lipomatosa: An Unusual Cause of Localized Gigantism

PubMed Central

Maheswari, S Uma; Sampath, V; Ramesh, A; Manoharan, K

2016-01-01

Macrodystrophia lipomatosa (MDL) is a rare congenital form of localized gigantism characterized by progressive overgrowth of all mesenchymal elements with a disproportionate increase in fibro adipose tissue. Here we report a case of 20 years old male who presented with history of painless gradual enlargement of entire left upper limb since childhood. Magnetic resonance imaging and histopathology confirmed the diagnosis of macrodystrophia lipomatosa. This condition has to be differentiated from other causes of localized gigantism, since these conditions differ in their course, prognosis, complications and treatment. PMID:27293271

Gastroesophageal reflux disease vs. Panayiotopoulos syndrome: an underestimated misdiagnosis in pediatric age?

PubMed

Parisi, Pasquale; Pacchiarotti, Claudia; Ferretti, Alessandro; Bianchi, Simona; Paolino, Maria Chiara; Barreto, Mario; Principessa, Luigi; Villa, Maria Pia

2014-12-01

Autonomic signs and symptoms could be of epileptic or nonepileptic origin, and the differential diagnosis depends on a number of factors which include the nature of the autonomic manifestations themselves, the occurrence of other nonictal autonomic signs/symptoms, and the age of the patient. Here, we describe twelve children (aged from ten months to six years at the onset of the symptoms) with Panayiotopoulos syndrome misdiagnosed as gastroesophageal reflux disease. Gastroesophageal reflux disease and Panayiotopoulos syndrome may represent an underestimated diagnostic challenge. When the signs/symptoms occur mainly during sleep, a sleep EEG or, if available, a polysomnographic evaluation may be the most useful investigation to make a differential diagnosis between autonomic epileptic and nonepileptic disorders. An early detection can reduce both the high morbidity related to mismanagement and the high costs to the national health service related to the incorrect diagnostic and therapeutic approaches. To decide if antiseizure therapy is required, one should take into account both the frequency and severity of epileptic seizures and the tendency to have potentially lethal autonomic cardiorespiratory involvement. In conclusion, we would emphasize the need to make a differential diagnosis between gastroesophageal reflux disease and Panayiotopoulos syndrome in patients with "an unusual" late-onset picture of GERD and acid therapy-resistant gastroesophageal reflux, especially if associated with other autonomic symptoms and signs. Copyright © 2014 Elsevier Inc. All rights reserved.

Hip adductor pyomyositis from Streptococcus mitis in a four-year-old child.

PubMed

Buldu, Metin Tolga; Raman, Raghu

2016-01-01

The unique aspect of this case study is the unusual history, presentation, ultrasonography, MRI and blood culture results, which lead to the diagnosis and treatment of adductor pyomyositis with a rare organism in a temperate country. The patient presented with a one-day history of malaise, fever, left groin pain and inability to weight bear on the left leg. There was no history of any trauma, predisposing infections or recent travel. Plain radiograph and ultrasound of the hip was normal with no effusion. Two consecutive blood cultures suggested Streptococcus mitis bacteraemia and MRI scan confirmed pyomyositis of the left hip adductors that was too small to drain. S. mitis is a normal commensal organism however it can lead to opportunistic infections particularly endocarditis. Echocardiogram revealed no cardiac complications, in particular no endocarditic vegetation. Patient was treated with intravenous benzylpenicillin for a week followed by oral phenoxymethylpenicillin for a week. Adductor pyomyositis must be considered as a differential diagnosis in a child with unusual presentation of hip pain. When an ultrasound is normal, MRI scan is warranted to confirm diagnosis. Septic screen should include blood cultures. The commonest causative organisms are the Staphylococcus family. However if S. mitis is isolated, cardiac sources of infection resulting in septic emboli must be investigated. Repeated MRI scans are required particularly if the patient does not respond to medical management. IV.

Ureteric stricture secondary to unusual extension of prostatic adenocarcinoma.

PubMed

Chalasani, Venu; Macek, Petr; O'Neill, Gordon F; Barret, Wade

2010-02-01

This article describes an unusual finding in a patient who presented with an adenocarcinoma of the prostate and right hydronephrosis. A 68-year-old male presented with right hydronephrosis and a PSA of 96. DRE was consistent with cT3 carcinoma. Cystoscopy showed an exophytic superficial transitional cell carcinoma (TCC) of the bladder and a transrectal biopsy of the prostate confirmed adenocarcinoma Gleason score 4+3. Staging investigations (CT pelvis and bone scan) were negative; androgen deprivation therapy was therefore initiated for the prostatic adenocarcinoma. Upper tract imaging showed multiple filling defects in the proximal ureter. Ureteroscopy showed a stricture at the level of the iliac vessels. With a working diagnosis of upper tract TCC, right open nephroureterectomy was performed. Final histology showed prostatic adenocarcinoma infiltrating the adventitia of the entire ureter up to the level of the renal pelvis. A rare cause of ureteric stricture, contiguous spread of prostatic adenocarcinoma, should be considered in the differential diagnosis of patients presenting with upper tract obstruction and a known history of prostatic adenocarcinoma. Androgen deprivation therapy for several months did not seem to cause resolution of the tumor in the periureteric, ureteric and perihilar tissues.

Primary intestinal lymphangiectasia: Minireview

PubMed Central

Ingle, Sachin B; Hinge (Ingle), Chitra R

2014-01-01

Primary idiopathic intestinal lymphangiectasia is an unusual disease featured by the presence of dilated lymphatic channels which are located in the mucosa, submucosa or subserosa leading to protein loosing enteropathy.Most often affected were children and generally diagnosed before third year of life but may be rarely seen in adults too. Bilateral pitting oedema of lower limb is the main clinical manifestation mimicking the systemic disease and posing a real diagnostic dilemma to the clinicians to differentiate it from other common systemic diseases like Congestive cardiac failure, Nephrotic Syndrome, Protein Energy Malnutrition, etc. Diagnosis can be made on capsule endoscopy which can localise the lesion but unable to take biopsy samples. Thus, recently double-balloon enteroscopy and biopsy in combination can be used as an effective diagnostic tool to hit the correct diagnosis. Patients respond dramatically to diet constituting low long chain triglycerides and high protein content with supplements of medium chain triglyceride. So early diagnosis is important to prevent untoward complications related to disease or treatment for the sake of accurate pathological diagnosis. PMID:25325063

A rare presentation of atypical demyelination: tumefactive multiple sclerosis causing Gerstmann’s syndrome

PubMed Central

2014-01-01

Background Tumefactive demyelinating lesions are a rare manifestation of multiple sclerosis (MS). Differential diagnosis of such space occupying lesions may not be straightforward and sometimes necessitate brain biopsy. Impaired cognition is the second most common clinical manifestation of tumefactive MS; however complex cognitive syndromes are unusual. Case presentation We report the case of a 30 year old woman who presented with Gerstmann’s syndrome. MRI revealed a large heterogeneous contrast enhancing lesion in the left cerebral hemisphere. Intravenous corticosteroids did not stop disease progression. A tumour or cerebral lymphoma was suspected, however brain biopsy confirmed inflammatory demyelination. Following diagnosis of tumefactive MS treatment with natalizumab effectively suppressed disease activity. Conclusions The case highlights the need for clinicians, radiologists and surgeons to appreciate the heterogeneous presentation of tumefactive MS. Early brain biopsy facilitates rapid diagnosis and management. Treatment with natalizumab may be useful in cases of tumefactive demyelination where additional evidence supports a diagnosis of relapsing MS. PMID:24694183

SQUAMOUS CELL CARCINOMA IN TWO SNOW LEOPARDS (UNCIA UNCIA) WITH UNUSUAL AURICULAR PRESENTATION.

PubMed

Quintard, Benoît; Greunz, Eva Maria; Lefaux, Brice; Lemberger, Karin; Leclerc, Antoine

2017-06-01

Squamous cell carcinoma (SCC) is well documented in snow leopards ( Uncia uncia ) and most common locations are oral, facial, or pedal. These two cases illustrate an unusual auricular presentation, which is more often reported in white domestic cats. The animals were aged and presented clinical signs of otitis such as head shaking and ear scratching. Clinical examinations showed auricular canal masses with chronic purulent otitis. In both cases, clinical deterioration led to euthanasia and histology of the ear canal was consistent with SCC and showed numerous vascular emboli. These cases illustrate an unreported aggressive localization for SCC in snow leopards, which should be included in the differential diagnosis of otitis in this species. Auricular SCC may be underdiagnosed as the ear canal is infrequently sampled for histopathology. This auricular localization should be considered when metastases are found upon necropsy without internal primary tumor.

Breast as an unusual site of metastasis- series of 3 cases and review of literature.

PubMed

Hebbar, Ashwin K; Shashidhar, K; S, Krishna Murthy; Kumar, Veerendra; Arjunan, Ravi

2014-09-01

Background and objectives Metastasis to the breast from extra mammary sites is uncommon with an incidence ranging from 1.2 to 2 % in clinical reports. Approximately 300 cases of breast metastasis from extra mammary sites have been reported, mostly in small series or as a single case report. Gastrointestinal adenocarcinoma metastasising to the breast is also very rare and only 30 cases have been reported in the literature. Metastatic deposits within the breast may be difficult to distinguish from primary breast carcinoma. Radiological features and immunohistochemistry especially for steroid hormone receptors (ER/PR) and expression of gross cystic disease fluid protein (GCDFP) and presence of other immunohistochemistry protein factors in breast metastasis which are specific to primary site may be helpful in differentiating these two conditions. Materials and methods In this series of 3 cases of breast as an unusual site of metastasis, we present different cases of adenocarcinoma of stomach, sigmoid colon and kidney with metastasis to the breast and discuss the differential diagnosis and management plans. Conclusion In conclusion, secondary tumors to the breast are rare and thus differentiating primary tumors from metastatic breast carcinoma is important for rational and optimum therapy and avoidance of unnecessary radical surgery. Palpable breast lump without typical radiological signs of primary breast carcinoma in patients with known primary should be suspected of representing metastasis.

UNUSUAL MANIFESTATION OF NEUROBORELIOSIS (CASE REPORT).

PubMed

Beridze, M; Khizanishvili, N; Mdivani, M; Samushia, O; Gogokhia, N

2017-03-01

The paper reported the verified case of neuroboreliosis with unusual clinical presentation of Parkinsonism. Study aimed at establishing the significance of a precise differential diagnosis with substantial analysis of the symptoms of several diseases to avoid the false diagnosis and to conduct the opportune and adequate therapeutic management. We described the case of the diagnosed neuroboreliosis with clinical expression of Multiple Sclerosis (MS) and Parkinsonism. A 44 years old man was diagnosed as MS according to the McDonald's Criteria, who within two years developed typical clinical signs of Parkinsonism. Patient investigated neurologically, Brain contrast MRI (1.5 Tesla) was performed; Cerebrospinal fluid was researched for oligoclonal bands. Blood IgM and IgG were researched against Chlamidia pneumonie, Micoplasma pneumonie, Borrelia Burgdorferi, Herpes simplex 1/2, Cytomegalovirus by ELISA method. Clinically the patient expressed amimic face, oligobradikinesia, extrapiramidal rigidity in all limbs, resting tremor in upper limb fingers, horizontal nystagmus. Brain MRI showed multiple gadolinium enhanced demyelization lesions in periventricular and sub-cortical white matter. CSF oligoclonal bands were positive without dysfunction of blood-brain barrier. Blood IgM, IgG detected to be negative against Chlamidia pneumonie, Micoplasma pneumonie, cytomegalovirus, Herpes simplex ½, while the blood IgG was strongly positive against Borrelia burgdorferi, confirmed by followed Western blot test. Patient was stabilized by puls-therapy with 1 gr/intravenous Solumedrol (5 days) along with Rocephin treatment (2 gr /iv) for 21 days followed by long term treatment with Antiparkin (Carbidopa 250 mg, Levodopa 25 mg). MS and even Parkinsonism in suspicious cases should thoroughly be investigated for differentiation from chronic Neuroboreliosis.

Dyspareunia in a Teenager Reveals a Rare Occurrence: Retroperitoneal Cervical Leiomyoma of the Left Pararectal Space.

PubMed

Giannella, Luca; Mfuta, Kabala; Tuzio, Antonella; Cerami, Lillo Bruno

2016-02-01

Retroperitoneal uterine leiomyoma is a very rare occurrence and to discover it as a cause of female sexual dysfunction in a teen is unusual. An 18-year-old black woman reported deep dyspareunia, resulting in severe distress. Gynecological and instrumental examinations showed a pelvic mass of 7 cm in diameter. The preoperative diagnosis was uterine fibroid, but the exact location of the leiomyoma was uncertain. Laparoscopic examination showed a pedunculated retroperitoneal cervical leiomyoma in the left pararectal space. After surgical excision of the mass, normal sexual activity was restored. When a teen experiences pain with intercourse, pelvic masses should be part of differential diagnosis of dyspareunia. Copyright © 2016 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.

Acute fibrinous and organising pneumonia.

PubMed

Guimarães, Catarina; Sanches, Inês; Ferreira, Catarina

2012-03-20

Acute fibrinous and organising pneumonia (AFOP) was recently described as an unusual pattern of diffuse lung disease. Particular characteristics make the differential diagnosis with the well recognised clinical patterns of diffuse alveolar damage, cryptogenic organising pneumonia or eosinophilic pneumonia. The lack of hyaline membranes, the presence of intra-alveolar fibrin, absence of noticeable eosinophils and patchy distribution suggests that AFOP define a distinct histological pattern. The authors describe the case of a woman diagnosed with AFOP after surgical lung biopsy, in association with primary biliary cirrhosis. The patient presented dyspnoea, fatigue, dry cough and thoracic pain. The CT scan showed bilateral patchy infiltrates predominantly in the lower lobes. Flexible bronchoscopy and subsidiary techniques were inconclusive and biopsy through video-assisted thoracoscopic surgery led to anatomopathological diagnosis of AFOP. The patient is having a good clinical response to prednisone.

Sarcoidosis onset simulating a unique hepatic metastasis.

PubMed

Diéguez Castillo, Carmelo; Martín-Lagos Maldonado, Alicia; Ríos Pelegrina, Rosa María; Díaz Alcázar, María Del Mar; Roa Colomo, Amparo; Ruiz Escolano, Elena

2018-06-22

Sarcoidosis is a systemic granulomatous disease with an uncertain etiology, characterized by the production of non-necrotizing granulomas. The most frequent presentation is pulmonary and mediastinal, although it might affect any other organ. Hepatic alterations occur in 50 to 65% of the cases. Nevertheless, it is commonly subclinical or detected during a study of the alteration of liver enzymes. It is very unusual that disease onset occurs as an isolated hepatic tumor. A hepatic biopsy is usually required to confirm the diagnosis. A differential diagnosis must be established via any hepatic granulomatous disease, infectious or autoimmune disease as well as the exclusion of malignancy. We present a clinical case of a female diagnosed with an isolated hepatic sarcoidosis that simulated a unique hepatic metastatic lesion. The hepatic biopsy was diagnostic.

Quantitative label-free multimodality nonlinear optical imaging for in situ differentiation of cancerous lesions

NASA Astrophysics Data System (ADS)

Xu, Xiaoyun; Li, Xiaoyan; Cheng, Jie; Liu, Zhengfan; Thrall, Michael J.; Wang, Xi; Wang, Zhiyong; Wong, Stephen T. C.

2013-03-01

The development of real-time, label-free imaging techniques has recently attracted research interest for in situ differentiation of cancerous lesions from normal tissues. Molecule-specific intrinsic contrast can arise from label-free imaging techniques such as Coherent Anti-Stokes Raman Scattering (CARS), Two-Photon Excited AutoFluorescence (TPEAF), and Second Harmonic Generation (SHG), which, in combination, would hold the promise of a powerful label-free tool for cancer diagnosis. Among cancer-related deaths, lung carcinoma is the leading cause for both sexes. Although early treatment can increase the survival rate dramatically, lesion detection and precise diagnosis at an early stage is unusual due to its asymptomatic nature and limitations of current diagnostic techniques that make screening difficult. We investigated the potential of using multimodality nonlinear optical microscopy that incorporates CARS, TPEAF, and SHG techniques for differentiation of lung cancer from normal tissue. Cancerous and non-cancerous lung tissue samples from patients were imaged using CARS, TPEAF, and SHG techniques for comparison. These images showed good pathology correlation with hematoxylin and eosin (H and E) stained sections from the same tissue samples. Ongoing work includes imaging at various penetration depths to show three-dimensional morphologies of tumor cell nuclei using CARS, elastin using TPEAF, and collagen using SHG and developing classification algorithms for quantitative feature extraction to enable lung cancer diagnosis. Our results indicate that via real-time morphology analyses, a multimodality nonlinear optical imaging platform potentially offers a powerful minimally-invasive way to differentiate cancer lesions from surrounding non-tumor tissues in vivo for clinical applications.

Splenic rupture as an infectious mononucleosis complication.

PubMed

Lin, J H; Cespedes, E

1992-06-01

Splenic rupture is a rare yet serious complication associated with an infectious mononucleosis, especially in those patients with atypical clinical manifestations or those whose presentations are nonspecific or even completely asymptomatic. Since the death in these occasions is mostly attributed to acute massive hemorrhages, an early diagnosis and treatment is of paramount importance. This report illustrates that in infectious mononucleosis, one should be aware of the possibility of an unusual clinical presentation and the enlarged spleen may rupture spontaneously or by a causal traumatic force. White blood cell counts and their differentials at this catastrophic event may not be helpful in diagnosing infectious mononucleosis.

Progressive external ophthalmoplegia (PEO) due to a mutation in the C10orf2 (PEO1) gene mimicking a myasthenic crisis.

PubMed

Gonzalez-Moron, Dolores; Bueri, Jose; Kauffman, Marcelo Andres

2013-09-07

We described a case of a patient with autosomal dominant progressive external ophthalmoplegia (PEO) who presented with the acute onset dysphagia, quadriparesis, ptosis and respiratory insufficiency following a cardiac procedure and mimicking a myasthenic crisis. A pathogenic mutation in the C10orf2 (PEO1) gene was confirmed. The unusual presentation of our patient contributes to expand the clinical phenotype of PEO1 mutations and reinforces the need to consider mitochondrial myopathy as differential diagnosis of myasthenia gravis even in the case of acute onset symptoms.

Cancer-associated retinopathy with unusual retinal whitening.

PubMed

Lee, Joan J; Vrabec, Tamara R; Baldassano, Vincent F

2015-01-01

To describe the clinical characteristics and results of ocular and systemic testing in an atypical case of cancer-associated retinopathy. This study is a retrospective case report of a female patient. Rapidly progressive visual loss, vitritis, white, ring- and coin-shaped retinal lesions, and panretinal optical coherence tomography thinning preceded the diagnosis of poorly differentiated cervical carcinoma with neuroendocrine features consistent with small-cell carcinoma. Cancer-associated retinopathy can present with ring- and coin-shaped retinal lesions, vitritis, and panretinal thinning. The presence of intraocular inflammation and retinal and choroidal vasculopathy may herald more rapid visual demise.

An unusual metastasis of a papillary thyroidian carcinoma with follicular pattern.

PubMed

Coconu, M; Berdan, G; Roşculescu, I; Herlea, V

1998-01-01

The case of a 67-year-old man is presented. He was admitted for the presence of a left parietal tumour with progressive growing, without any other objective or subjective symptomatology. CT-scan detects a left parietal osteolytic area. The histopathological aspect suggested an adenocarcinomatous metastasis with papillary pattern, moderately differentiated. With the purpose of diagnosing the original tumour, immunnohistochemical techniques were performed, which led to a diagnosis of a thyroidian carcinoma. At the histological examination of the surgical extirpated thyroid, it was proved to be a papillary carcinoma (Chan, 1990, Hay, 1990), the follicular pattern.

Dermatoglyphics in childhood leukemia

PubMed Central

Berka, Ludmila; McClure, P. D.; Sonley, Marilyn J.; Thompson, Margaret W.

1971-01-01

The dermatoglyphics of 54 leukemic children do not differ significantly from those of 25 mothers and 592 unrelated controls with respect to frequency of digital pattern types, position of axial triradius, or type of palmar flexion creases. These findings do not support the hypothesis that children with leukemia have an increased frequency of unusual dermal patterns, but suggest that the dermatoglyphics of leukemic children are not distinctive and therefore have no practical value in the diagnosis of childhood leukemia. Whatever factors are responsible for the development of leukemia in children, these factors do not appear regularly to affect the differentiation of the dermal ridges. PMID:5112119

Legionnaire's disease associated with acute encephalitis and arrhythmia.

PubMed

Karim, Anita; Ahmed, Shahid; Rossoff, Leonard J

2002-05-01

To report an unusual, life-threatening combination of neurologic, cardiac, and gastrointestinal symptoms in the presence of a community-acquired pneumonia. Case report. University hospital. Previously healthy young male. Diagnostic fiberoptic bronchoscopy, lumber puncture, magnetic resonance imaging of the brain, and institution of systemic antibiotics. Gradual clinical improvement of a multiple-system illness. Legionellosis should be considered in the differential diagnosis of patients presenting with neurologic, cardiac, and gastrointestinal symptoms, particularly in the presence of radiographic pneumonia. Furthermore, Legionella meningoencephalitis may present with findings on magnetic resonance imaging previously thought to be characteristic of herpes encephalitis.

Differential diagnosis between mesothelioma and adenocarcinoma: a multimodal approach based on ultrastructure and immunocytochemistry

DOE Office of Scientific and Technical Information (OSTI.GOV)

Bedrossian, C.W.; Bonsib, S.; Moran, C.

1992-05-01

Most compensations for asbestos-related deaths secondary to cancer center around mesothelioma and bronchogenic carcinoma. The differential diagnosis between mesothelioma and adenocarcinoma is a common and troublesome one, necessitating the correlation between clinical history, radiographic findings, and pathologic examination of tissues and cells. We describe a multimodal approach based on the use of routine and special stains, immunocytochemistry, and electron microscopy for distinguishing between mesothelioma and adenocarcinoma. Once a malignant diagnosis is arrived at by careful pathological examination, the tumor is classified as mesothelioma if mesothelial cells are identified as the constituent cells of the neoplasm. Mesothelial cells are recognized bymore » (1) their main ultrastructural features: slender and elongated microvilli, abundant intermediate filaments, and lacking secretory granules; and (2) their characteristic immunocytochemical reactivity: positivity for cytokeratin, EMA, and vimentin, and negativity for carcinoembryonic antigen (CEA), B72-3, Leu-M1, and other gland-cell markers. A variety of methods have been attempted in an effort to distinguish between reactive and malignant mesothelial cells. In practice, however, such distinction depends more on experience and expertise than in any fool-proof ancillary tests. A number of these tests are discussed along with the illustration of classical and unusual examples of mesothelioma and other pleural tumors.« less

[Differential diagnosis and therapy of acute abdomen in sickle cell crisis. A rare case in visceral surgery].

PubMed

Zülke, C; Graeb, C; Rüschhoff, J; Wagner, H; Jauch, K W

2000-01-01

Surgical therapy of the acute abdomen often allows only limited time for differential diagnosis to confirm the indication for surgery. Under consideration of clinical aspects and case history both common and rare causes of an acute abdomen should be investigated without undue loss of time. Differential diagnostic considerations and eventual therapy are presented in the following case of a 25-year-old Afro-american who developed multiorgan failure after an initial course of lower-back pain. In addition to the clinical setting of an acute abdomen the patient presented with acute respiratory failure and laboratory signs of severe hemolysis in combination with newly detected splenomegaly. The indication for splenectomy was made following CT-proven complete splenic infarction due to repeated acute squestration. Histologic examination of the spleen together with hemoglobin electrophoresis confirmed the clinical assumption of unusually late primary manifestation of a sickle cell crisis. In the underlying case, the hemoglobinopathy was in fact the less common form of combined sickle-cell-beta-thalassemia. A ten-day course of intensive care therapy was necessary to treat ongoing multiorgan failure due to persistent sickle cell crisis. Current diagnostic and therapeutic procedures in connection with sickle cell crisis as a rare cause of an acute abdomen with the necessity for surgical intervention are presented.

Russell body gastritis with Dutcher bodies evaluated using magnification endoscopy

PubMed Central

Yorita, Kenji; Iwasaki, Takehiro; Uchita, Kunihisa; Kuroda, Naoto; Kojima, Koji; Iwamura, Shinichi; Tsutsumi, Yutaka; Ohno, Akinobu; Kataoka, Hiroaki

2017-01-01

Russell body gastritis (RBG) is an unusual type of chronic gastritis characterized by marked infiltration of Mott cells, which are plasma cells filled with spherical eosinophilic bodies referred to as Russell bodies. It was initially thought that Helicobacter pylori (H. pylori) infection was a major cause of RBG and that the infiltrating Mott cells were polyphenotypic; however, a number of cases of RBG without H. pylori infection or with monoclonal Mott cells have been reported. Thus, diagnostic difficulty exists in distinguishing RBG with monoclonal Mott cells from malignant lymphoma. Here, we report an unusual case of an 86-year-old-Japanese man with H. pylori-positive RBG. During the examination of melena, endoscopic evaluation confirmed a 13-mm whitish, flat lesion in the gastric antrum. Magnification endoscopy with narrow-band imaging suggested that the lesion was most likely a poorly differentiated adenocarcinoma. Biopsy findings were consistent with chronic gastritis with many Mott cells with intranuclear inclusions referred to as Dutcher bodies. Endoscopic submucosal dissection confirmed the diagnosis of RBG with kappa-restricted monoclonal Mott cells. Malignant lymphoma was unlikely given the paucity of cytological atypia and Ki-67 immunoreactivity of monoclonal Mott cells. This is the first reported case of RBG with endoscopic diagnosis of malignant tumor and the presence of Dutcher bodies. PMID:28874963

Posterior symphyseal spurs--an unusual differential diagnosis in athletes with groin pain.

PubMed

Hopp, Sascha Jörg; Ojodu, Ishaq; Pohlemann, Tim; Kelm, Jens

2015-05-01

We set out to highlight the significance of posterior symphyseal spurs as an unusual diagnostic possibility in athletes with chronic groin pain and to demonstrate that operative resection was successful in quickly and safely returning the patients to sporting activities. Five competitive nonprofessional male athletes, three soccer players, and two marathon runners (median age: 30 [26/33] years), who presented to us with significant groin and central pubic pain with duration of at least 12 months, and who had failed conservative or surgical interventions (symphyseal plating), were evaluated. Physical examination as well as pelvic radiographs confirmed the diagnosis of posterior symphyseal spurs. Four out of five athletes underwent complete resection of the spur. Size of spurs was 2.2 (1.3/2.9) cm (median) with four of them posterosuperiorly and one posterocentrally located. All of them had uneventful postoperative recovery period and were still pain-free at the latest follow up after 26.6 months (24/30). Median time-to-return to competitive sports level was 10 weeks (8/13). None of the patients developed pubic instability due to symphyseal spur resection. The results of considerable postoperative improvement in our patients highlight the significance of posterior symphyseal spurs as a diagnostic possibility in athletes with chronic groin pain.

Oral foregut cyst in a neonate.

PubMed

Rosa, Ana Cláudia Garcia; Hiramatsu, Daniel Martins; de Moraes, Fábio Roberto Ruiz; Passador-Santos, Fabrício; de Araújo, Vera Cavalcanti; Soares, Andresa Borges

2013-11-01

Oral foregut cysts are congenital choristomas that arise in the oral cavity during embryonic development from remnants of foregut-derived epithelium. This is an unusual report of a neonate with a large congenital sublingual cystic lesion, extending superficially from the left ventral tongue to the anterior floor of the mouth, impeding breast-feeding. The differential diagnosis included dermoid cyst, epidermoid cyst, mucous retention cyst, and oral lymphangioma. The treatment of choice was enucleation under general anesthesia. Histology showed a cystic lesion with a ciliated pseudostratified columnar epithelium with numerous goblet cells. Immunohistochemistry was positive for cytokeratin 7 and thyroid transcription factor 1 and negative for cytokeratin 20, resulting in a final diagnosis of an oral foregut cyst. Three weeks after surgery, the tongue had healed with good mobility, and breast-feeding could be established. No recurrence was present at 6 months of follow-up.

Cardiomyopathy Induced by Pulmonary Sequestration in a 50-Year-Old Man

PubMed Central

Chatelain, Shaun; Comp, Robert A.; Grace, R. Randal

2015-01-01

A 50-year-old black man presented at the emergency department with midsternal, nonradiating chest pressure and chronic dyspnea on exertion. Four years before the current admission, he had been diagnosed with nonischemic cardiomyopathy at another facility. After our complete evaluation, we suspected that his symptoms arose from left-to-left shunting in association with pulmonary sequestration, a congenital malformation. Our preliminary diagnosis of secondary dilated cardiomyopathy was confirmed by normalization of the patient's ventricular size and function after lobectomy. To our knowledge, this patient is the oldest on record to present with cardiomyopathy consequent to pulmonary sequestration. His case is highly unusual because of his age and the rapid resolution of his symptoms after lobectomy. We believe that pulmonary sequestration should be included in the differential diagnosis of dilated cardiomyopathy. PMID:25873803

[Iris abscess after bacterial endocarditis in a patient with leukaemia. Differential diagnosis].

PubMed

Manrique Lipa, R; González Sánchez, E; Asencio Duran, M; Gonzalez-Peramato, P; Fonseca Santodomingo, A

2014-04-01

To report a case of iris abscess due to bacterial endocarditis. A 46-year-old male under diagnosis of promielocitic leukemia and endocarditis presented with decreased vision in left eye (OS). Ophthalmic exploration revealed iris abscess and hypopyon with fibrinous exudate in iris of the left eye and tyndall +1 in right eye (OD). Blood culture and anterior chamber paracentesis was positive for methicillin-sensitive Staphylococcus aureus and negative for blastic cells in citology. Treatment with systemic antibiotic was initiated with total resolution of inflammation. Iris abscess is an unusual septic focus in bacterial endocarditis. It is crucial to rule out an extramedullary metastasis in a patient with leukemia due to the general prognosis. Copyright © 2011 Sociedad Española de Oftalmología. Published by Elsevier Espana. All rights reserved.

Primary sacral hydatid cyst. A case report.

PubMed

Joshi, Nayana; Hernandez-Martinez, Alejandro; Seijas-Vazquez, Roberto

2007-10-01

This case report highlights an unusual osseous spinal presentation of a well described disease, hydatidosis. A 59-year-old woman presented with increasing back pain and bilateral radiculopathy. Examination disclosed symptoms of spinal stenosis and urinary incontinence. Radiographs showed an expansive lytic lesion affecting the pelvic bones with destruction of the bone cortex. Laboratory analyses were performed and the patient underwent CT and MRI studies. Serology for Echinococcus was positive. When assessing sciatica, low back pain or lower limb weakness the pelvic cavity should be examined for hidden disease that might explain the neurological symptoms. Hydatid disease of bone should be considered in the differential diagnosis of any bone mass discovered in the human body. Diagnosis was delayed in this case because the pelvic cavity was not studied when radiculopathy symptoms started and there was no coexisting visceral involvement.

Fine needle aspiration biopsy diagnosis of metastatic neoplasms of the breast. A three-case report

PubMed Central

Raquel, Garza-Guajardo; Nora, Mendez-Olvera; Pablo, Flores-Gutierrez Juan; Silvia, Hernandez-Martinez; Michelle, Candanosa-Mc Cann; Jesús, Ancer-Rodriguez; Oralia, Barboza-Quintana

2005-01-01

Metastases to the breast are unusual lesions that make up approximately 2% of all malignant mammary neoplasms and may mimic both benign and malignant primary neoplasms from a clinical point of view, as well as in imaging studies. Arriving at a correct diagnosis is therefore essential in order to establish appropriate management. We present three cases of metastatic neoplasms diagnosed through fine needle aspiration biopsy and immunocytochemistry. The cytological diagnoses were: medulloblastoma in an 18-year-old woman, melanoma in a 26-year-old man, and an exceptional case of ovarian sarcoma originating from a granulosa cell tumor with metastases to both breasts. A metastatic disease should be considered in the differential diagnosis of a palpable mass in the breast, especially if there is a history of an extramammary malignant neoplasm. Fine needle aspiration biopsy is the method of choice for the management of these cases. Whenever possible the exam of the material obtained should be compared to the previous biopsy, which is usually enough to arrive at a correct diagnosis, thus preventing unnecessary surgical procedures. PMID:16174298

Childhood scurvy: an unusual cause of refusal to walk in a child.

PubMed

Alqanatish, J T; Alqahtani, F; Alsewairi, W M; Al-kenaizan, S

2015-06-11

Scurvy, or vitamin C deficiency, is rarely presented to a rheumatology clinic. It can mimic several rheumatologic disorders. Although uncommon, it may present as pseudovasculitis or chronic arthritis. Scurvy still exists today within certain populations, particularly in patients with neurodevelopmental disabilities, psychiatric illness or unusual dietary habits.Scurvy presentation to the rheumatologist varies from aches and mild pains to excruciating bone pain or arthritis. Musculoskeletal and mucocutaneous features of scurvy are often what prompts referrals to pediatric rheumatology clinics. Unless health care providers inquire about nutritional habits and keep in mind the risk of nutritional deficiency, it will be easy to miss the diagnosis of scurvy. Rarity of occurrence as compared to other nutritional deficiencies, combined with a lack of understanding about modern-day risk factors for nutritional deficiency, frequently leads to delayed recognition of vitamin C deficiency. We report a case of scurvy in a mentally handicapped Saudi child, who presented with new onset inability to walk with diffuse swelling and pain in the left leg. Skin examination revealed extensive ecchymoses, hyperkeratosis and follicular purpura with corkscrew hairs, in addition to gingival swelling with bleeding. Clinical diagnosis of scurvy was rendered and confirmed by low serum vitamin C level. The patient did extremely well with proper nutritional support and vitamin C supplementation. It has been noticed lately that there is increased awareness about scurvy in rheumatology literature. A high index of suspicion, together with taking a thorough history and physical examination, is required for diagnosis of scurvy in patient who presents with musculoskeletal symptoms. Nutritional deficiency should also be considered by the rheumatologist formulating differential diagnosis for musculoskeletal or mucocutaneous complaints in children, particularly those at risk.

Lymphoepithelial cyst of the pancreas: an analysis of 117 patients.

PubMed

Mege, Diane; Grégoire, Emilie; Barbier, Louise; Del Grande, Jean; Le Treut, Yves Patrice

2014-10-01

Lymphoepithelial cyst (LEC) of the pancreas is an unusual and benign cystic tumor. Accurate preoperative diagnosis is difficult; hence, most of pancreatic LECs are resected. The aim was to describe clinicopathological features of pancreatic LEC to guide appropriate management. We retrospectively collected data about LEC patients treated in our department between 1987 and 2012 and added cases from review of the literature during the same period. One hundred seventeen cases (3 from our institution and 114 from literature review) were identified. Most patients were men (78%). The discovery was generally fortuitous. Serum CA19-9 was elevated in half of the cases. No specific radiological feature was identified. Fine needle aspiration and cytologic analysis allowed a correct preoperative diagnosis in 21% of the patients, showing presence of squamous cells, lymphocytes, and keratinous debris. Half of them were treated conservatively, whereas other patients underwent surgery. Neither malignant transformation nor recurrence after resection was observed. The LEC of the pancreas is a rare benign tumor that could be treated conservatively. Fine needle aspiration is the only tool that can achieve a diagnosis without resection. If no certain diagnosis can be made, surgery is warranted to rule out a malignant differential diagnosis.

Laparoscopic Management of a Proximal Jejunal Gallstone Ileus with Patulous Ampulla and Choledochal Cyst-a Report of Unusual Presentation and a Review.

PubMed

Narkhede, Rajvilas Anil; Bada, Vijaykumar C; Kona, Lakshmi Kumari

2017-02-01

Gallstone ileus is a diagnosis of rarity, and a proximal site of obstruction in a young patient is even rare. Of the three cases in our experience, we found two cases of gallstone ileus (GSI) with typical epidemiology and presentation, one had combination of multiple rare associations. We report such a case, suspected to have gallstone ileus on ultrasound and confirmed diagnosis on computed tomography. Presence of biliary-enteric fistula, old age, and obstructive features, as in typical cases, was a bigger asset for diagnosis, but it was difficult to entertain diagnosis of GSI in young girl in absence of a demonstrable biliary-enteric fistula, with uncommon association of choledochal cyst and sickle cell disease. A very surprising finding, dilated major papilla, could however explain the pathogenesis which has also been reported in the past. Although differential opinions regarding management exist, we decided to follow two-stage surgery as our institute protocol. A minimal access approach has been immensely helpful in accurate diagnosis, and expedative management with early recovery has been proven in the past studies which we agreed with our experience.

Spindle Cell Rhabdomyosarcoma of Bone with FUS-TFCP2 Fusion: Confirmation of a Very Recently Described Rhabdomyosarcoma Subtype.

PubMed

Dashti, Nooshin K; Wehrs, Rebecca N; Thomas, Brittany C; Nair, Asha; Davila, Jaime; Buckner, Jan C; Martinez, Anthony P; Sukov, William R; Halling, Kevin C; Howe, Benjamin M; Folpe, Andrew L

2018-05-14

Rhabdomyosarcomas of bone are extremely rare, with fewer than 10 reported cases. A very rare subtype of spindle cell/sclerosing rhabdomyosarcoma harboring a FUS-TFCP2 fusion and involving both soft tissue and bone locations has very recently been reported. We report only the fourth case of this unusual, clinically aggressive rhabdomyosarcoma. A previously-well 72-year old male presented with a destructive lesion of the mandible. Morphological and immunohistochemical study of a needle biopsy and the subsequent resection showed a spindle cell rhabdomyosarcoma. RNA-seq, RT-PCR and FISH confirmed the presence of the FUS-TFCP2 fusion. Spindle cell rhabdomyosarcomas carrying the FUS-TFCP2 fusion are very rare rhabdomyosarcoma variants with osseous predilection. The classification and differential diagnosis of this unusual molecular variant of spindle cell/ sclerosing rhabdomyosarcoma are discussed. This article is protected by copyright. All rights reserved. This article is protected by copyright. All rights reserved.

[Secondary telangiectatic osteosarcoma of the left femur. A case presentation of an unusual course of disease].

PubMed

Zajonz, D; Werner, M; Panzert, S; Strübing, A S; Tiepolt, S; Fabsits, E; Brandmaier, P; Heyde, C-E; Prietzel, T

2014-05-01

This article presents the unusual case of a 73-year-old male patient who was treated with primary interlocking nailing after a pathological femoral fracture. Despite comprehensive diagnostics including several biopsies, a tumor could not be detected. In 2008 when progressive cystic femoral destruction leading to loosening of the nail necessitated a partial femoral prosthesis, an osteosarcoma could first be diagnosed in the resected bone. Advanced progression of the tumor required an extended hip exarticulation. During the current restaging of the now 84-year-old patient no tumor could be detected. When a malignancy cannot be excluded even by repeated biopsies of radiologically suspicious structures, an adequate tumor staging followed by close monitoring should be carried out. For a clinically silent, long-term course of cystic destruction of a long bone over several years, an age over 60 years and a lack of distant metastases, an atypical osteosarcoma should be considered in the differential diagnosis.

Angiolymphoid hyperplasia with eosinophilia-acquired port-wine-stain-like lesions: attempt at treatment with the argon laser.

PubMed

Pasyk, K A; Elsenety, E N; Schelbert, E B

1988-01-01

An unusual case of angiolymphoid hyperplasia with eosinophilia (ALHE) simulating port-wine stain in a 50-year-old woman is reported. The lesions of ALHE are typically papules or subcutaneous masses that range from light pink to red-brown in color. In addition to the usual histologic findings of ALHE, the biopsy in our patient showed some fibrin-like material and fibrous long-spacing collagen on ultrastructural examination. This unusual lesion necessitates biopsy because the differential diagnosis includes port-wine stain, sarcoidosis, lupus erythematosus, and non-Hodgkin lymphoma (mycosis fungoides). Many different forms of treatment have been attempted for ALHE including radiotherapy, cytotoxic chemotherapy, corticosteroids, and antibiotics. The lesions in our patient responded to argon laser therapy and surgical excision, though there has been recurrence on the border of the treated area. Because laser energy is noncumulative in the tissues and effective in removing the lesions, we recommend it as the treatment of choice for these lesions.

An unusual case of diffuse Merkel cell carcinoma successfully treated with low dose radiotherapy.

PubMed

Chatzinasiou, Foteini; Papadavid, Euaggelia; Korkolopoulou, Penelope; Levidou, Georgia; Panayiotides, Ioannis; Theodoropoulos, Konstadinos; Pogka, Vasiliki; Asimakopoulos, Charalampos; Rigopoulos, Dimitrios

2015-01-01

Merkel cell carcinoma (MCC) is a rare and highly aggressive neuroendocrine carcinoma of the skin. MCC should be included in the diagnosis of a rapidly growing infiltrating mass and histology as well as laboratory investigations such as Merkel cell polyoma virus (MCPyV) detection are valuable in its diagnosis. We present an unusual case of giant MCC-positive MCPyV in a Greek woman located on the lower leg. Our patient is very unusual in terms of her extensive MCC and her rapid and complete response to radiotherapy. © 2015 Wiley Periodicals, Inc.

DOE Office of Scientific and Technical Information (OSTI.GOV)

Adelstein, D.J.; Padhya, T.; Tomashefski, J.F. Jr.

We describe a patient with recurrent small cell undifferentiated lung carcinoma after chemotherapy and mediastinal radiation therapy who presented with peripheral pulmonary infiltrates on chest radiograph. At autopsy the patient was found to have carcinomatous pneumonia confined to the radiographically abnormal lung. The descriptive term reverse radiation pneumonitis is applied in view of the striking nonsegmental distribution of these pulmonary infiltrates, which occurred only outside the irradiated field. In this patient, radiation therapy successfully controlled disease in the treated lung parenchyma, thus accounting for this unusual radiologic and histologic picture. Pneumonia carcinomatosa, occurring after lung irradiation, can therefore be addedmore » to the differential diagnosis of radiographic peripheral pulmonary infiltrates.« less

An unusual renal manifestation of chronic HBV infection.

PubMed

Aravindan, Ananthakrishnapuram; Yong, Jim; Killingsworth, Murray; Strasser, Simone; Suranyi, Michael

2010-08-01

Hepatitis B viral infection is usually a self-limiting disease in immunocompetent individuals. Chronic infection can be seen in up to 5% of infected patients. Renal manifestations of chronic HBV infection are usually glomerular. We describe here an uncommon presentation of a patient with chronic HBV infection with very high viral load and rapidly progressive renal failure. Renal biopsy showed features of tubulointerstitial nephritis and tubular epithelial inclusion bodies suggestive of HBV infection. Entecavir treatment slowed down the progression of his renal disease. Tubulointerstitial nephritis should be considered as a part of the differential diagnosis in patients with HBV infection. Early antiviral treatment may halt the progression of renal disease.

Vasospastic angina in a patient with hyperthyroidism.

PubMed

Canpolat, U; Sunman, H; Gürses, K M; Aytemir, K

2012-08-01

A 56-year-old man presented with typical angina pectoris lasting >20 min associated with precordial ST-segment elevation. Urgent coronary angiography showed critical stenosis in the proximal segment of the left anterior descending artery, which resolved with intracoronary nitrate application. He was subsequently diagnosed with hyperthyroidism secondary to exposure of iodinated contrast agent which is thought to be the cause of the coronary spasm. Symptoms resolved upon treatment with propylthiouracil, slow-release diltiazem, isosorbide mononitrate, and aspirin. This unusual case highlights the importance of considering hyperthyroidism in the differential diagnosis of chest pain and coronary artery spasm. We suggest routine thyroid function testing in patients with coronary spasm.

Esophageal lichen planus: An unusual cause of dysphagia in the elderly.

PubMed

Carbonari, Augusto Pinke Cruz; Imada, Regina Rie; Nakamura, Romeu; Araki, Osvaldo; Cristina, Kelly; Balancin, Marcelo Luiz; Ibrahim, Roberto El

2018-03-01

An 82-year-old man sought our service with dysphagia and was referred for upper endoscopy with biopsies, which evidenced multiple ulcers of the esophagus and oropharinx. Histopathology confirmed the unusual diagnosis of esophageal lichen planus. The correct clinical suspicion of this disease can facilitate the diagnosis and guide specific treatment, which can drastically change the natural course of the disease.

Diagnosis and successful surgical treatment of an unusual inguinal liposarcoma in a pet ferret (Mustela putorius furo)

PubMed Central

Gardhouse, Sara; Eshar, David; Fromstein, Jordan; Smith, Dale A.

2013-01-01

A 4 1/2-year-old female spayed ferret (Mustela putorius furo) was presented for a rapidly growing mass in the inguinal region. Following a complete clinical evaluation, the unusual mass was surgically removed and the histopathological diagnosis was an inguinal liposarcoma. No post-operative complications were observed over a 14-month follow-up period. PMID:24155472

Unusual coexistence of extramedullary plasmacytoma and nasopharyngeal carcinoma in nasopharynx.

PubMed

Du, Ri-Chang; Li, Hai-Nan; Huang, Wei; Tian, Xiao-Ying; Li, Zhi

2015-09-17

Nasopharyngeal carcinoma (NPC) is an EBV-associated malignant tumor of nasopharynx. As extremely rare condition, the second primary cancer of nasopharynx can occur in NPC patients synchronously or subsequently. Extramedullary plasmacytoma (EMP) is a rare tumor and commonly originates in the head and neck region. However, there is no report to describe a collision tumor of NPC and EMP occurring in the same nasopharyngeal mass. We report here an unusual case of synchronous coexistence of NPC and EMP occurring in the nasopharynx of an old male patient. A 63-year-old male patient presented with a 3-month history of right-sided nasal obstruction and recently intermittent epistaxis without enlargement of cervical lymph nodes. The solitary mass of nasopharynx was found by radiological and nasopharyngeal examination. Histologically, the mass contained two separated portions and displayed typically histological features of NPC and EMP, respectively. In EMP portion, the tumor was composed of monomorphic plasmacytoid-appearing cells with immuno-positive to CD79a, CD138, CD38, MUM-1 and CD56, but lack immunoreactivity to pan-CK (AE1/AE3), CD20, CD21 and EBERs. In NPC portion, the tumor cells formed irregular-shaped islands with diffusely immuno-positive to pan-CK (AE1/AE3), EMA and EBERs, but lack expressions of lymphoplasmacytic markers. A diagnosis of simultaneous occurrence of EMP and NPC in nasopharynx was made. There was no evidence of tumor recurrence or metastasis 18-month follow-up after radiotherapy. To our knowledge, it may be the first case of coexistence of EMP and NPC synchronously. In addition, the histological differential diagnosis and relevant potential mechanism of this unusual collision tumor were also discussed.

An unusual tachycardia.

PubMed

Hanon, Sam; Shapiro, Michael; Schweitzer, Paul

2004-07-01

The following article presents an unusual case of atrial tachycardia, initially misdiagnosed due to a lack of clear P waves. The diagnosis was eventually confirmed using the atrial electrogram from the patient's pacemaker.

Diagnosis of systemic lupus erythematosus in an unusual presentation: what a primary care physician should know.

PubMed

Pramanik, Bimalendu

2014-01-01

Systemic Lupus Erythematosus (SLE) is a multisystem autoimmune disease affecting millions of people worldwide. It can affect any organ systems of the body. However, all systems may not be involved initially rather than they may be affected gradually, sometimes over years. Diagnosis depends on characteristic clinical features and laboratory test results. Some features such as skin rash, joint symptoms and oral ulcers are common in SLE. But initial presentation of many patients is unusual because either they do not have these common features of the disease or the presentation mimics other illnesses. As a result, delayed diagnosis and misdiagnosis are common. Therefore, high index of initial suspicion of SLE is critical. In clinical practice, SLE should be suspected in any patient presenting with an unexplained disease process involving two or more organ systems. To make a diagnosis in an unusual presentation, thorough clinical evaluation with details history of both present and past illnesses as well as laboratory tests for SLE should be performed. Usually primary-care physicians first evaluate SLE patients; but there is no single article, where all the information on when to suspect SLE in an unusual presentation, is available in an integrated form. In this article, a list of conditions, when SLE should be suspected in an unusual presentation, has been given and some relatively common areas with diagnostic challenges of SLE have been briefly described. To prepare this manuscript, most articles have been identified through 'Pubmed' search using keywords-atypical/ unusual presentation of SLE, case reports on SLE, gastrointestinal manifestations of SLE, neuropsychiatric SLE, diagnostic challenges with SLE, etc. Selected most articles are from currently medline-indexed journals.

Heterotopic salivary gland tissue: a case report demonstrating evolution and association with the branchial apparatus.

PubMed

Chang, Wen-Yu; Lee, Ka-Wo; Tsai, Kun-Bow; Chen, Gwo-Shing

2005-09-01

Heterotopic salivary gland tissue (HSGT) in the lower neck is an unusual developmental anomaly with characteristic clinical and microscopic findings. The exact embryogenesis remains unclear. This rare entity must be considered in the differential diagnosis of neck mass with fistula. We present a typical HSGT totally removed using the stepladder excision technique and showing an internal fistula. Interpretation of this case from the anatomical and pathological points of view, we support the argument that the embryogenesis of HSGT is more probably related to ectodermal heteroplasia of the precervical sinus of His and further conclude that an association with branchial cleft sinus may exist and cannot be seen as an exclusion criteria for diagnosis of HSGT. Due to possible but infrequent neoplastic transformation, it is important to check HSGT in every encountered cervical anomaly related to any branchial apparatus derived lesion.

Inflammatory fibroid polyp of the ileum with the appearance of a Borrmann type II lesion, caused by colostomy irrigation: report of a case.

PubMed

Ojima, Y; Okajima, M; Asahara, T; Arita, M; Kobayashi, R; Nakahara, M; Masaoka, Y; Toyota, K; Fujitaka, T; Kawahori, K; Shimamoto, F; Dohi, K

1997-01-01

Inflammatory fibroid polyps (IFPs) are rarely found in the gastrointestinal tract. The majority of IFPs are sessile-pedunculated or pedunculated polypoid lesions, whereas a polyp presenting like a Borrmann type II lesion is extremely unusual. This report describes the case of a 74-year-old man with a history of intussusception, in whom a preoperative diagnosis of a cecal tumor of the ileocecal valve was made. A laparotomy subsequently revealed a lesion similar to a Borrmann type II tumor located 15 cm above the ileocecal valve, but not at the valve. The lesion was diagnosed as an IFP which had been caused by repeated colostomy irrigation. The aim of the present report is to draw attention to this entity, which should be included in the differential diagnosis of intussusception and small bowel obstruction.

Unusual association of adrenal pheochromocytoma and para-aortic neurofibroma in pregnancy.

PubMed

Moretti, A; Minuto, M; Berti, P; Bernini, G P; Mannelli, M; Miccoli, P

2006-09-01

The association of pheochromocytoma (PHEO) and pregnancy is uncommon and life threatening for both the fetus and the mother. Early diagnosis and treatment is essential to decrease maternal and fetal mortality and to differentiate the disease from the more common pre-eclampsia. While medical treatment should be started immediately after diagnosis, the timing of surgical treatment is still debated. We describe the case of a 27-yr-old woman in the 18th week of pregnancy who showed a biochemical pattern typical of PHEO and, by imaging studies, 2 tumors with the same characteristics: the first localized on the right adrenal gland, the second at the right renal hilum. The patient underwent surgery because of suspicion of malignant PHEO with local metastasis, while histology revealed a rare association of a solitary PHEO and para-aortic neurofibroma, both tumors embryologically deriving from a common cell precursor.

Parvovirus B19 infection in an adult presenting with connective tissue disease-like symptoms: a report of the clinical and histological findings.

PubMed

Liles, J E; Shalin, S C; White, B A; Trigg, L B; Kaley, J R

2017-06-15

Parvovirus B19 infections in adults are usually associated with nonspecific and mild symptoms. However, cases presenting with a lupus-like syndrome have been described, leading to the hypothesis that parvovirus infection can induce connective tissue disease. Various histopathologic features of cutaneous manifestations of parvovirus have been reported, including features which overlap with those of connective tissue disease. Herein, we discuss an unusual case of Parvovirus  B19 infection in a middle-aged woman. The biopsy results showed granulomatous vasculitis and were consistent with the previously described superantigen id reaction. This case demonstrates that infectious causes should be considered in the differential diagnosis for granulomatous vasculitis and clinicopathologic correlation is required for accurate diagnosis. We also provide a review of the literature highlighting the possible role of parvovirus in induction of a connective tissue disease-like presentation.

Ossifying fibroma misdiagnosed as chronic apical periodontitis.

PubMed

de Moraes Ramos-Perez, Flávia Maria; Soares, Ulysses Nicida; Silva-Sousa, Yara Teresinha Corrêa; da Cruz Perez, Danyel Elias

2010-03-01

Ossifying fibroma mimicking chronic apical periodontitis is extremely rare. This report describes a case of ossifying fibroma located in the periapical region of the mandibular right canine that was misdiagnosed as chronic apical periodontitis. A 40-year-old woman complained of slight pain in the right anterior mandibular region without mucosal abnormalities or swelling. Radiographically, a well-circumscribed, unilocular, radiolucent lesion was observed that was located in the periapical region of the mandibular right canine, which presented an endodontically treated root canal. Under local anesthesia, the lesion was fully excised. Microscopically, there was fibrocellular connective tissue associated with a mineralized component, which consisted of lamellar or trabecular and woven bone, compatible with the diagnosis of ossifying fibroma. Although it is very rare, ossifying fibroma should be considered in the differential diagnosis of unusual or persistent apical radiolucencies. Copyright (c) 2010 American Association of Endodontists. Published by Elsevier Inc. All rights reserved.

[Focal myositis: An unknown disease].

PubMed

Gallay, L; Streichenberger, N; Benveniste, O; Allenbach, Y

2017-10-01

Focal myositis are inflammatory muscle diseases of unknown origin. At the opposite from the other idiopathic inflammatory myopathies, they are restricted to a single muscle or to a muscle group. They are not associated with extramuscular manifestations, and they have a good prognosis without any treatment. They are characterized by a localized swelling affecting mostly lower limbs. The pseudo-tumor can be painful, but is not associated with a muscle weakness. Creatine kinase level is normal. Muscle MRI shows an inflammation restricted to a muscle or a muscle group. Muscle biopsy and pathological analysis remain necessary for the diagnosis, showing inflammatory infiltrates composed by macrophages and lymphocytes without any specific distribution within the muscle. Focal overexpression of HLA-1 by the muscle fibers is frequently observed. The muscle biopsy permits to rule out differential diagnosis such a malignancy (sarcoma). Spontaneous remission occurs within weeks or months after the first symptoms, relapse is unusual. Copyright © 2017. Published by Elsevier SAS.

Delayed diagnosis of Herlyn-Werner-Wunderlich syndrome due to microperforation and pyocolpos in obstructed vaginal canal.

PubMed

Wozniakowska, Ewa; Torres, Anna; Milart, Pawel; Wozniak, Slawomir; Czuczwar, Piotr; Szkodziak, Piotr; Paszkowski, Tomasz

2014-08-01

To present a rare anomaly consisting of uterus didelphys, longitudinal vaginal septum, obstructed hemivagina with pyocolpos, fistula to the open vaginal canal, and ipsilateral renal agenesis, referred as Herlyn-Werner-Wunderlich syndrome (HWWS). A 14-year-old girl with recurring purulent vaginal discharge lasting for a few months. Preoperative examination revealed one vaginal canal with one cervical opening on the right side. There was a fistula leading from the obstructed vaginal canal to the left vagina. Intravaginal ultrasound examination demonstrated a longitudinal vaginal septum and a closed pyocolpos on the right side. The longitudinal vaginal septum was excised by way of electrocauterization under direct vision. HWWS should be considered in the differential diagnosis in patients with uterus didelphys and unusual symptoms such as pyocolpos and vaginal discharge. Copyright © 2014 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.

T-cell/histiocyte-rich large B-cell lymphoma of stomach.

PubMed

Barut, Figen; Kandemir, Nilufer Onak; Gun, Banu Dogan; Ozdamar, Sukru Oguz

2016-07-01

T-cell/histiocyte-rich large B-cell lymphoma is an unusually encountered lymphoid neoplasm of stomach with aggressive course, and is an uncommon morphologic variant of diffuse large B-cell lymphoma. An ulcerated mass, 7x5x1 cm in size was observed within the gastrectomy specimen of a 76-year-old female patient. In cross sections, besides mature lymphoid cells displaying T-cell phenotype, a neoplastic formation composed of large, pleomorphic atypical lymphoid cells with, prominent nucleoli, vesicular nuclei and abundant eosinophilic cytoplasm displaying B-cell phenotype were observed. Meanwhile, histiocyte-like mononuclear cells and Reed-Sternberg-like multinuclear cells expressing CD68 and Mac387 were also observed. The diagnosis of the case was T cell/histiocyte-rich large B-cell lymphoma. This rarely encountered neoplasm should be kept in mind in the differential diagnosis of primary gastric lymphomas.

An Unusual Case of Alternating Ventricular Morphology on the 12-Lead Electrocardiogram.

PubMed

Sammon, Maura; Dawood, Alveena; Beaudoin, Scott; Harrigan, Richard A

2017-03-01

One of the principal tasks of an emergency physician is identifying potentially life-threatening conditions in the undifferentiated patient; cardiac dysrhythmia is an example of such a condition. A systematic approach to a patient with atypical dysrhythmia enables proper identification of such-life threatening conditions. We describe a 31-year-old man presenting to the emergency department with an undifferentiated dysrhythmia after naloxone reversal of an opiate overdose. A systematic approach to the electrocardiogram led to the rare diagnosis of Wolff-Parkinson-White (WPW) alternans. We review the differential diagnosis of this dysrhythmia and the initial evaluation of a patient with the WPW pattern present on their electrocardiogram. WHY SHOULD AN EMERGENCY PHYSICIAN BE AWARE OF THIS?: Emergency physicians should be prepared to use a systematic approach to an undifferentiated dysrhythmia to identify potentially life-threatening conditions. Copyright © 2016 Elsevier Inc. All rights reserved.

Duodenoduodenal intussusception: Report of three challenging cases with literature review.

PubMed

Pradhan, Dinesh; Kaur, Neeraj; Nagi, Birinder

2015-01-01

Small bowel intussusception is an uncommon condition with cases of duodenoduodenal intussusception (DDI) being exceptionally rare. Adult intussusception occurs infrequently and differs from childhood intussusception in its presentation, etiology, and treatment. DDI is very unusual due to the fixed position of the duodenum within the retroperitoneum. The lead point usually is hamartomatous polyp, adenoma, or adenocarcinoma. Only few cases of DDI in adults have been reported in the literature. We herein report a series of three cases of DDI encountered in a tertiary level research institute. All cases had underlying abnormality acting as lead point with different etiologies. DDI is a challenging condition due to its rarity and nonspecific presentation and should be considered in the differential diagnosis of gastric outlet obstruction, pancreatitis, and obstructive jaundice. We elaborate this condition with a detailed review of the literature to gain a better understanding of its clinical features and enable early diagnosis.

Syphilis: The Renaissance of an Old Disease with Oral Implications

PubMed Central

Carlos, Roman

2009-01-01

Syphilis is caused by Treponema pallidum an anaerobic filamentous spirochete. In recent years, striking outbreaks have occurred in USA, Canada, Russia, China and some areas of Central and Eastern Europe. Main epidemiology changes reflect sex industry, sexual promiscuity, decreasing use of barrier protection (i.e. condoms) due to false sense of security that nowadays sexually transmitted diseases are curable and lack of pertinent knowledge. Considering that the initial presentation of syphilis may be the oral cavity, it is of great relevance to include this disease in the differential diagnosis of unusual oral ulcerations and white patches. Primary syphilis is a highly infectious disease in which inappropriate treatment may be apparently curative while the patient remains highly infectious. It is then of pivotal importance that clinicians maintain a high clinical index of suspicion. At the present time, clinical-pathologic correlation together with serologic studies remain essential in establishing the diagnosis of syphilis. PMID:20596972

Contrasting natural histories of thoracic spine pneumatocysts: resolution versus rapid enlargement

PubMed Central

Wilkinson, V H; Carroll, T; Hoggard, N

2011-01-01

An intraosseous pneumatocyst is an unusual cause of gas in a vertebral body and is rarely reported in the thoracic spine. We report the evolution of thoracic spine pneumatocysts, one that enlarged rapidly with resorption of fluid and one that resolved. A 65-year-old female with lower back and left leg pain underwent MRI of the lumbar spine, which demonstrated a well-defined lesion in a T10 vertebral body of low-signal on T1 and T2 weighted imaging. CT confirmed this as a gas-containing cyst. Review of previous imaging showed that this lesion had initially contained fluid and had expanded rapidly over 14 months. It also showed smaller pneumatocysts, which had resolved. The variable natural history and imaging features of pneumatocysts make them an important differential diagnosis of an intravertebral lesion. Their aetiology is not known, but previous case reports suggest that they can occur spontaneously or in association with vacuum phenomenon in adjacent discs or facet joints. Previous reports have observed that they can fill with granulation tissue or fluid, and the case we report demonstrates that this fluid can be resorbed and that the pneumatocyst can undergo rapid enlargement. A pneumatocyst is a differential diagnosis for an expanding intravertebral lesion of indeterminate MRI characteristics. The diagnosis can be made with CT if the lesion is gas or gas and fluid filled. PMID:21415298

A case of symptomatic mass in the right iliac fossa: a Bermuda Triangle which often lies the right diagnosis.

PubMed

Panarese, Alessandra; Pironi, Daniele; Pontone, Stefano; Vendettuoli, Maurizio; De Cristofaro, Flaminia; Antonelli, Manila; Romani, Annamaria; Filippini, Angelo

2014-02-24

Disease of the iliac fossa can often be accompanied by non-specific symptoms and some of these are exclusively caused by the compression of bulky masses of other neighboring structures. In young women a differential diagnosis is a non trivial task as several possible causes have to be taken into account. Thus, intraligamentary tumors, which are extremely rare finding, are frequently confused with uterus, ovary or intestinal tumors. Even if myomas are the most benign tumors of the female genital tract, broad ligament leiomyomas are an unusual finding in women of reproductive age. These tumors are often asymptomatic until they reach a volume likely to cause symptoms related to the mass pressure. An accurate patient's anamnesis and examination serve as a guide to further examinations. Ultrasound is the first line imaging as it can show ovarian or other pelvic mass and doesn't involve exposure to radiations in young patients, who can be pregnant. We describe the clinical presentation and imaging features of a broad ligament leiomyoma, which presented as an inguinal mass in a patient with a right iliac fossa pain. We also report our diagnostic process performing the differential diagnosis with other potential pathologies of RIF. In these cases, a preoperative disease classification discriminating the benign or malignant tumor nature is closely linked to the proper patient management.

Metastatic serous carcinoma presenting as inflammatory carcinoma over the breast-Report of two cases and literature review.

PubMed

Panse, Gauri; Bossuyt, Veerle; Ko, Christine J

2018-03-01

Non-mammary metastases involving breast are rare and most commonly involve the breast parenchyma. Infrequently, metastasis from an extramammary primary site presents as inflammatory carcinoma over the breast. Diagnosis of such lesions can be challenging, especially in patients with coexisting primary breast carcinoma. Few such cases have been described in literature; however, none of the previously reported cases had a prior history of primary breast carcinoma. We present 2 patients with history of breast carcinoma and serous carcinoma of ovarian/peritoneal origin that presented with inflammatory carcinoma over the breast. Biopsies from breast tissue showed atypical cells in the dermis forming cords and papillary structures. Histopathologic differential diagnosis included infiltrating ductal carcinoma of breast origin and metastatic serous carcinoma. Immunohistochemical studies showed that the tumor cells were positive for markers of ovarian origin such as PAX-8 and CA-125 and negative for breast markers such as GATA-3, thus supporting the diagnosis. In summary, we describe the unusual presentation of metastatic serous carcinoma as inflammatory carcinoma over breast and discuss the diagnostic challenges in patients with coexisting primary breast and ovarian malignancies. We also review the morphologic features of tumors of breast and ovarian origin and the immunohistochemical stains to differentiate these 2 entities. © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Unusual recurrent tongue spindle cell carcinoma with marked anaplasia occurring at the site of glossectomy for a well-differentiated squamous cell carcinoma: A case report.

PubMed

Okuyama, Kohei; Fujita, Shuichi; Yanamoto, Souichi; Naruse, Tomofumi; Sakamoto, Yuki; Kawakita, Akiko; Omori, Keisuke; Tsuchihashi, Hiroki; Umeda, Masahiro

2017-09-01

Spindle cell carcinoma (SpCC), which predominantly arises in the oral, pharyngeal and laryngeal mucosal tissues, is composed of a mixture of squamous and sarcomatoid components. The present study describes the case of a 62-year-old woman with SpCC recurrence 4 years after an initial surgery to remove a well-differentiated primary squamous cell carcinoma (SCC) of the tongue. The recurrent tumor was spherical and located deep within the tongue tissue, which differs from the typical manifestation of ulcerated masses of the mucosa. The majority of cases of recurrence involving SpCC are associated with radiotherapeutic treatment of the primary malignancy; however, the patient in the present study had not received postoperative radiotherapy for SCC. Furthermore, the recurrent tumor in the present case exhibited marked anaplasia and sarcomatoid features, and the absence of SCC elements upon biopsy rendered histological diagnosis difficult. In summary, the present findings suggest that immunohistochemical examination and identification of SCC components are essential for ensuring the accuracy of the histological diagnosis of recurrent SpCC following a primary epithelial malignancy.

Unusual recurrent tongue spindle cell carcinoma with marked anaplasia occurring at the site of glossectomy for a well-differentiated squamous cell carcinoma: A case report

PubMed Central

Okuyama, Kohei; Fujita, Shuichi; Yanamoto, Souichi; Naruse, Tomofumi; Sakamoto, Yuki; Kawakita, Akiko; Omori, Keisuke; Tsuchihashi, Hiroki; Umeda, Masahiro

2017-01-01

Spindle cell carcinoma (SpCC), which predominantly arises in the oral, pharyngeal and laryngeal mucosal tissues, is composed of a mixture of squamous and sarcomatoid components. The present study describes the case of a 62-year-old woman with SpCC recurrence 4 years after an initial surgery to remove a well-differentiated primary squamous cell carcinoma (SCC) of the tongue. The recurrent tumor was spherical and located deep within the tongue tissue, which differs from the typical manifestation of ulcerated masses of the mucosa. The majority of cases of recurrence involving SpCC are associated with radiotherapeutic treatment of the primary malignancy; however, the patient in the present study had not received postoperative radiotherapy for SCC. Furthermore, the recurrent tumor in the present case exhibited marked anaplasia and sarcomatoid features, and the absence of SCC elements upon biopsy rendered histological diagnosis difficult. In summary, the present findings suggest that immunohistochemical examination and identification of SCC components are essential for ensuring the accuracy of the histological diagnosis of recurrent SpCC following a primary epithelial malignancy. PMID:28781811

A rare case of lateral ovotesticular disorder with Klinefelter syndrome mosaicism 46, XX/47, XXY: An unusual presentation.

PubMed

Talreja, Shyam M; Banerjee, Indraneel; Yadav, Sher Singh; Tomar, Vinay

2015-01-01

Ovotesticular disorder of sex development (OT-DSD) is a rare disorder of sexual differentiation characterized by the presence of both ovarian and testicular tissues in the same individual. It's incidence ranges from 3% to 10% of all disorder of DSD's, and the most common presentation is 46, XX followed by 46, XX/46, XY mosaicism and 46, XY. Klinefelter syndrome (KS) mosaicism 46, XX/47, XXY is extremely rare, and its association with the ovotesticular disorder is even rarer. We report an unusual case of 16-year-old with male habitus who presented with complains of cyclic hematuria. On examination, he had bilateral gynecomastia, unilateral left cryptorchidism, absent facial hair, sparse axillary hair growth, and pubic hair distribution of feminine type. The right testis was of normal size located normally in hemiscrotum and was confirmed by radio imaging. Ultrasonography and magnetic resonance imaging revealed a cystic area behind posterior half of urinary bladder. Chromosomal analysis revealed 46, XX/47, XXY mosaicism of female karyotype and KS. Histopathological report of this left side excised specimen confirmed the structures to be ovary, uterus, and fallopian tube, thus confirming our diagnosis of the lateral ovotesticular disorder. Meticulous workup combined interdisciplinary approach will lead to early diagnosis and resolve timely sex reassignment issues and also prevent consequences arising due to gonadal insufficiency.

A Supernumerary Nipple-Like Clinical Presentation of Lymphangioma Circumscriptum.

PubMed

Taylor, Dustin; Kash, Natalie; Silapunt, Sirunya

2018-01-01

Lymphangioma circumscriptum is a superficially localized variant of lymphangioma. The characteristic clinical presentation is a "frogspawn" grouping of vesicles or papulovesicles on the proximal limb or limb girdle areas. Though most lymphangiomas develop congenitally, the lymphangioma circumscriptum subtype is known to present in adults. We report a case of lymphangioma circumscriptum on the left inframammary area of an African American female with an unusual supernumerary nipple-like clinical presentation. Our patient presented with a firm, smooth, hypopigmented papule, and the clinical diagnosis of keloid was made initially. However, she returned reporting growth of the lesion and was noted to have a firm, exophytic, lobulated, pink to skin-colored nodule. Histopathological examination demonstrated dilated lymphatic vessels, consistent with the diagnosis of lymphangioma. The presentation as a firm, hypopigmented papule and later exophytic, lobulated, skin-colored nodule in our case represents a clinical presentation of lymphangioma circumscriptum not previously described in the literature. Correct diagnosis in lymphangioma circumscriptum is vital, as recurrence following surgical resection and secondary development of lymphangiosarcoma and squamous cell carcinoma following treatment with radiation have been reported. Thus, it is important to consider lymphangioma circumscriptum in the differential of similar lesions in the future to allow appropriate diagnosis, treatment, and monitoring.

Disseminated Cryptococcosis presenting as cellulitis in a renal transplant recipient.

PubMed

Chaya, Ramachandraiah; Padmanabhan, Srinivasan; Anandaswamy, Venugopal; Moin, Aumir

2013-01-15

Cellulitis is an unusual presentation of cryptococcal infection in renal allograft recipients. In such patients, disseminated cryptococcal infection can result in significant morbidity and mortality. Patients are often treated with antibiotics before a definitive diagnosis is made, delaying appropriate therapy. We describe the case of a 43-year-old post renal transplant recipient presenting with fever and swelling in the right thigh. On physical examination, the patient was found to have features suggestive of cellulitis with minimal slurring of speech. Material obtained from incision and drainage of the wound showed yeast cells resembling Cryptococcus spp. Blood culture and cerebrospinal fluid culture were also found to have growth of Cryptococcus neoformans. He received treatment with amphotericin B 6 mg/kg daily intravenously for two weeks, then continued with fluconazole 400 mg daily for three months. The patient showed a remarkable improvement. There was no recurrence of cryptococcosis after four months of follow-up. The diagnosis of disseminated cryptococcosis should be considered in differential diagnosis of cellulitis among non HIV immunocompromised hosts. A high clinical suspicion and early initiation of therapy is needed to recognize and treat patients effectively.

Intra-abdominal primary monophasic synovial sarcoma with hemangiopericytoma-like areas.

PubMed

Rao, Lakshmi; Jaiprakash, Padmapriya; Palankar, Nagaraj; Gowda, Vinay

2013-01-01

We report a case of retroperitoneal intra-abdominal primary monophasic synovial sarcoma (SS) with hemangiopericytomatous (HPC) pattern in a 25-year-old male arising from the triangular ligament on the superior surface of liver encasing the inferior vena cava (IVC) and masquerading as a hepatic tumor. A large heterogeneously enhancing, well defined, lobulated, exophytic lesion was seen involving segment VIII of the liver with foci of calcification in the periphery. A biopsy, followed by total resection of the tumor, showed a spindle cell sarcoma with HPC pattern, which was consistent with monophasic SS on histology and immunohistochemistry. The unusual clinical presentation, radiology, pathology, and differential diagnosis will be discussed in detail.

Perivascular epithelioid cell tumor located retroperitoneally with pulmonary lymphangioleiomyomatosis: report of a case.

PubMed

Pata, Giacomo; Tironi, Andrea; Solaini, Leonardo; Tiziano, Travaglia; Ragni, Fulvio

2014-03-01

Perivascular epithelioid cell neoplasms, also known as "PEComas", are unusual mesenchymal tumors, exhibiting perivascular epithelioid cell differentiation and characterized by a mixed myogenic and melanocytic phenotype. "PEComas not otherwise specified" (PEComas-NOS) are especially rare; consequently, there are no published large series, but only case reports. These tumors are rarely located retroperitoneally, with only about 15 such cases reported. We report a case of pulmonary diffuse lymphangioleiomyomatosis with large retroperitoneal PEComa-NOS in a 66-year-old woman. Treatment consisted only of tumor resection, without additional adjuvant therapy. We emphasize the importance of correct immunohistochemistry diagnosis, initiation of recommended treatment, and surveillance of this unique family of tumors.

PEComa of the mesentery coexisting with colon cancer: a case report.

PubMed

Wejman, Jarosław; Nowak, Krzysztof; Gielniewska, Lena; Komorowska, Magdalena; Dąbrowski, Wojciech

2015-04-18

Perivascular epithelioid cell tumor (PEComa) is a rare entity originating from mesenchymal tissue, which stains for both melanocytic and smooth muscle markers. We would like to present an unusual case of the PEComa of the mesentery which was unexpected discovery in a female patient with colonic adenocarcinoma. The tumour was revealed on the computer tomography and then resected during surgery, with subsequent chemotherapy for the colon adenocarcinoma. Furthermore we would like to discuss PEComa biology, emphasizing histological criteria of malignancy, possible treatment options and differential diagnosis which is mostly based on immunohistochemistry. Virtual slides: The virtual slide(s) for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/vs/1809062291157051 .

Successful Management of Aggressive Fibromatosis of the Neck: A Case Report

PubMed

Avinçsal, Özgür Mehmet; Shinomiya, Hirotaka; Otsuki, Naoki; Sasaki, Ryohei; Nibu, Ken-ichi

2018-05-29

Aggressive fibromatoses are histologically benign fibrous neoplasms originating from musculoaponeurotic structures throughout the body. They are locally invasive and erode adjacent vital structures. The head and neck region constitutes 7-25% of all extra-abdominal cases. Here, we report the case of a patient with aggressive fibromatosis in the left side of the neck. While the tumor deeply invaded the scalene muscles, the lesion was successfully treated by surgery followed by radiotherapy. The patient has been disease free for the last 7 years following treatment. Due to its unusual location in the head and neck region, aggressive fibromatosis should be considered in the differential diagnosis of invading lesions of the neck.

[Vomiting as main symptom: unusual presentation of a hyperthyroidism in a 12-year-old boy].

PubMed

Müller-Michaels, J; Bürk, G; Andler, W

1997-01-01

A twelve year old boy presented with a sudden onset of recurrent nausea and vomiting. During the past six weeks he had a weight loss of 13 kg. While he was in the hospital, persistent tachycardia and a slightly elevated blood pressure were noted. The gastroenterologic, cardiologic and neuropediatric examinations were normal. To exclude the differential diagnosis of hyperthyroidism, thyroid hormones were checked. They showed clearly elevated levels of tri-iodothyronine and thyroxine, while thyrotropin was suppressed. The boy did not have a goiter. Under thyrostatic therapy his clinical condition improved quickly. Among our 20 patients with hyperthyroidism he was the only one whose main symptom was severe vomiting.

[Rare bone tumour of the hand: capillary haemangioma of the second finger: case report].

PubMed

Chbani, L; Benmlih, A; Hammas, N; Znati, K; Marzouki, A; Chbani, B; Boutayeb, F; Amarti, A

2011-04-01

Primary vascular tumours of bone are rare. Haemangiomas occur as incidental findings in the skull or in the spine. A solitary haemangioma of the hand skeleton is rare and difficult in radiological and histological differential diagnosis. We report a case of a 23 year-old patient presenting with a capillary hemangioma of the left second finger of few months duration for which he underwent amputation. Postoperative evolution was good and showed no recurrence. We discuss this through observation and a review of the literature including the different clinical, radiological and pathological diagnostic problems associated with an unusual site for vascular proliferation. Copyright © 2011. Published by Elsevier SAS.

Unusual clinical presentation of sporotrichosis in three members of one family.

PubMed

Falqueto, Aloisio; Bravim Maifrede, Simone; Araujo Ribeiro, Mariceli

2012-04-01

Sporotrichosis is a mycosis caused by the dimorphic fungus Sporothrix spp., and the primary mode of transmission is traumatic inoculation of fungus conidia from plants and other organic matter. Sporotrichosis was established in a cat and in three members of one family from a rural area, by fungal growth in culture. The cutaneous lesions developed on the lower buttock and limbs with no report of any injury. Although sporotrichosis should be considered for differential diagnosis in people working with soil and plants, cases of chronic lesions on skin of cats and in households is probably a new epidemiological approach in a given geographic region. © 2012 The International Society of Dermatology.

Myasthenia Gravis: Unusual Presentations and Diagnostic Pitfalls.

PubMed

Rodolico, Carmelo; Parisi, Daniela; Portaro, Simona; Biasini, Fiammetta; Sinicropi, Stefano; Ciranni, Annamaria; Toscano, Antonio; Messina, Sonia; Musumeci, Olimpia; Vita, Giuseppe; Girlanda, Paolo

2016-08-30

Myasthenia gravis (MG) is an autoimmune disorder presenting with fluctuating, fatigable muscle weakness. Initial symptoms classically involve ocular and proximal limb muscles. Rarely, MG may onset with unusual features, so it can be misdiagnosed with other neuromuscular diseases. To describe unusual and atypical presentations of MG in a large cohort of patients, considering and discussing diagnostic difficulties and pitfalls. We report on 21 out of 508 MG patients, coming to our department in the last 27 years and presenting with atypical or unusual features. The diagnosis was achieved performing a careful clinical examination, a proper neurophysiological assessment, the neostigmine test, the AChR and MuSK antibodies assay and chest CT-scan. Patients with atypical/unusual MG onset were the 4.4% of all MG patients population. We describe seven different clinical categories: asymmetric distal upper limbs weakness, foot drop, isolated triceps brachii weakness and foot drop, post exertional axial weakness with dropped head, acute facial dyplegia, limb-girdle MG and MG with sudden lower limbs weakness and recurrent falls. Atypical and unusual presentations may increase the risk to misdiagnose or delay MG diagnosis. Isolated limb-girdle presentation is the most frequent atypical form in our series.

Adrenal tuberculosis after a pheochromocytoma: a misleading tumoral presentation.

PubMed

Hiéronimus, S; Bernard, J-L; Chevallier, P; Chevallier, A; Chyderiotis, G; Fenichel, P; Landraud, L

2007-06-01

Adrenal gland involvement could account for 6% of active tuberculosis. The diagnosis of this extrapulmonary form of tuberculosis is difficult, especially when presenting as unilateral adrenal tumor. This report describes an unusual case of adrenal tuberculosis presenting as a tumor occurring shortly after surgical removal of an adrenal pheochromocytoma located in the opposite gland, in a 63-year-old woman with a previous history of breast cancer. At initial presentation, the patient suffered from symptomatic paroxysmal hypertension. A pheochromocytoma in the left adrenal was diagnosed and resected. One year later, while physical examination and biological parameters were unremarkable, an enhanced adrenal computed tomography (CT) scan showed a right adrenal mass mimicking the CT features of the resected pheochromocytoma. A peripheral tissular rim delineating a central hypodensity characterized this tumor. Magnetic resonance imaging (MRI) showed the same findings on gadolinium-enhanced T1-weighted slices, while the mass was not seen on T2-weighted images. No tumoral signal loss was observed on out of phase images when using the in phase-out of phase T1-weighted sequence. Because of the tumoral evolution and the uncertainty of the nature of that lesion, the patient underwent a second adrenalectomy. Definitive diagnosis was provided by culture of tissue sample, which resulted in the identification of Mycobacterium tuberculosis. In an era of tuberculosis resurgence, this unusual case underscores the necessity of keeping in mind adrenal tuberculosis as a possible differential diagnosis in adrenal tumors of uncertainty nature. It stresses the importance of culture of biopsy tumor, whenever feasible, to avoid unnecessary operations. In the near future, interferon-gamma assay could be a valuable means to recognize extrapulmonary forms of tuberculosis.

Identification and molecular characterization of Corynebacterium xerosis isolated from a sheep cutaneous abscess: first case report in Mexico.

PubMed

Hernández-León, Fernando; Acosta-Dibarrat, Jorge; Vázquez-Chagoyán, Juan Carlos; Rosas, Pomposo Fernandez; de Oca-Jiménez, Roberto Montes

2016-07-22

Corynebacterium xerosis is a commensal organism found in skin and mucous membranes of humans. It is considered an unusual pathogen, and it is rarely found in human and animal clinical samples. Here we describe the isolation of C. xerosis from a 4-months-old Pelifolk lamb located in Tesistán, central western Mexico. This microorganism should be considered for differential diagnosis in cutaneous abscessed lesions in sheep, as it represents a zoonotic risk factor for human infection in sheep farms. The animal exhibited a hard-consistency, 5 cm diameter abscess, without drainage, in the neck. The presumptive clinical diagnosis was caseous lymphadenitis, caused by Corynebacterium pseudotuberculosis. Samples were obtained by puncture and cultured in 8 % sheep blood agar under microaerophilic conditions. Colonies were non-haemolytic, brown-yellowish and showed microscopic and biochemical features similar to C. pseudotuberculosis, except for the urea test. A multiplex-PCR for the amplification of partial sequences of the pld, rpoB and intergenic fragment from 16S to 23S genes suggested that isolate could be C. xerosis, which was later confirmed by sequencing analysis of the rpoB gene. This study shows for the first time isolation and molecular characterization of C. xerosis from a clinical sample of an ovine cutaneous abscess in Mexico. This finding highlights the need for differential diagnosis of this pathogen in ovine skin abscesses, as well as epidemiological and control studies of this pathogen in sheep farms.

A case of a resectable single hepatic epithelioid hemangioendothelioma with characteristic imaging by ADC map.

PubMed

Okano, Hiroshi; Nakajima, Hideki; Tochio, Tomomasa; Suga, Daisuke; Kumazawa, Hiroaki; Isono, Yoshiaki; Tanaka, Hiroki; Matsusaki, Shimpei; Sase, Tomohiro; Saito, Tomonori; Mukai, Katsumi; Nishimura, Akira; Matsushima, Nobuyoshi; Baba, Youichirou; Murata, Tetsuya; Hamada, Takashi; Taoka, Hiroki

2015-12-01

A 47-year-old woman with a single-nodule hepatic tumor was referred to our hospital. She had no symptoms. The tumor was located at the surface of the right lobe of the liver; it showed peripheral low signal intensity on a magnetic resonance imaging apparent diffusion coefficient (ADC) map, and an influx of blood flow into the peripheral area of the tumor at the early vascular phase on perflubutane microbubble (Sonazoid(®)) contrast-enhanced (CE) ultrasonography. Since we suspected a malignant tumor, the patient underwent surgical resection. The hepatic tumor was resected curatively. Pathological examination revealed that the tumor was composed of epithelioid cells with an epithelioid structure and/or cord-like structure. Immunohistochemical staining was positive for cluster of differentiation 34 and factor VIII-related antigen. Based on the above, a final diagnosis of hepatic epithelioid hemangioendothelioma (EHE) was made. Hepatic EHE is a rare hepatic tumor: only a few cases of hepatic EHE with curative resection have been reported. We were unable to reach a diagnosis of hepatic EHE by imaging studies; however, an ADC map was useful in showing the malignant potential of the tumor, and CE ultrasonography was useful in revealing the peripheral blood flow of the tumor. When an unusual hepatic mass is encountered, hepatic EHE should be kept in mind, and the mass should be inspected with more than one imaging modality, including an ADC map, in the process of differential diagnosis.

Acute non-traumatic spinal subdural haematoma: an unusual aetiology.

PubMed

Seizeur, Romuald; Ahmed, Seddik Sid; Simon, Alexandre; Besson, Gérard; Forlodou, Pierre

2009-06-01

We report an unusual case of a spinal subdural haematoma associated with a ruptured spinal aneurysm. The delayed diagnosis or misdiagnosis of this rare entity can have disastrous consequences. We discuss various possible aetiologies and its association with spinal aneurysms.

Microbiology laboratory and the management of mother-child varicella-zoster virus infection

PubMed Central

De Paschale, Massimo; Clerici, Pierangelo

2016-01-01

Varicella-zoster virus, which is responsible for varicella (chickenpox) and herpes zoster (shingles), is ubiquitous and causes an acute infection among children, especially those aged less than six years. As 90% of adults have had varicella in childhood, it is unusual to encounter an infected pregnant woman but, if the disease does appear, it can lead to complications for both the mother and fetus or newborn. The major maternal complications include pneumonia, which can lead to death if not treated. If the virus passes to the fetus, congenital varicella syndrome, neonatal varicella (particularly serious if maternal rash appears in the days immediately before or after childbirth) or herpes zoster in the early years of life may occur depending on the time of infection. A Microbiology laboratory can help in the diagnosis and management of mother-child infection at four main times: (1) when a pregnant woman has been exposed to varicella or herpes zoster, a prompt search for specific antibodies can determine whether she is susceptible to, or protected against infection; (2) when a pregnant woman develops clinical symptoms consistent with varicella, the diagnosis is usually clinical, but a laboratory can be crucial if the symptoms are doubtful or otherwise unclear (atypical patterns in immunocompromised subjects, patients with post-vaccination varicella, or subjects who have received immunoglobulins), or if there is a need for a differential diagnosis between varicella and other types of dermatoses with vesicle formation; (3) when a prenatal diagnosis of uterine infection is required in order to detect cases of congenital varicella syndrome after the onset of varicella in the mother; and (4) when the baby is born and it is necessary to confirm a diagnosis of varicella (and its complications), make a differential diagnosis between varicella and other diseases with similar symptoms, or confirm a causal relationship between maternal varicella and malformations in a newborn. PMID:27563537

Papillary endothelial hyperplasia (Masson's tumor) in children.

PubMed

Liné, A; Sanchez, J; Jayyosi, L; Birembaut, P; Ohl, X; Poli-Mérol, M-L; François, C

2017-06-01

The intravascular papillary endothelial hyperplasia (IPEH/Masson's tumor) is a rare benign tumor of the skin and subcutaneous vessels. We report, in four pediatric cases, clinical presentation, care (diagnostic and surgical) of Masson's tumor in children. Two boys (two years) and two girls (four and six years) showed a pain subcutaneous tumor (one to five centimeters). They were in the transverse abdominal muscle, between two metatarsals, at the front of thigh and in the axilla. Imaging performed (MRI, Doppler ultrasound) evoked either a hematoma, a lymphangioma or hemangioma. The indication for removal was selected from pain and/or parental concern. The diagnosis was histologically. A lesion persisted in residual form (incomplete initial resection), and is currently not scalable for eleven years. This tumor is characterized by excessive proliferation and papillary endothelial cells in the vessels, following a thrombotic event. It is found mainly in adults (no specific age), and preferentially localizes in the face and limbs. The clinical differential diagnosis of this tumor is angiosarcoma. The imagery has not allowed in our series to diagnose but still essential to eliminate differential diagnoses. Only surgical excision with histological examination can differentiate. Our study emphasizes the possibility of pediatric cases with two cases of unusual locations (abdominal and axilla). Clinical presentations we met, now lead us to direct our histologist looking for a Masson tumor in any child with a subcutaneous tumor and/or intramuscular pain, sudden onset, and vascular appearance (after excluding an arteriovenous malformation). Copyright © 2016 Elsevier Masson SAS. All rights reserved.

Spondylodiscitis Caused by Enterobacter agglomerans

PubMed Central

Kothalawala, Mahen; Devakanthan, Balachandran; Arunan, Sinnappoo; Galgamuwa, Dinithi; Rathnayake, Manori

2016-01-01

All over the globe, the incidence of vertebral infection is rising. Nowadays, compared to tuberculous variety, pyogenic spondylodiscitis incidence is high. The increase in the susceptible population and improved diagnostics summatively contributed to this. In clinical grounds, differentiation of pyogenic and tuberculous spondylodiscitis is well defined. Enterobacter agglomerans is a hospital contaminant and associated with infections in immunocompromised individuals and intravenous lines. It causes a wide array of infections. Enterobacter agglomerans spondylodiscitis is unusual and there are, around the globe, only less than 31 suspected cases that have been previously reported. Enterobacter agglomerans histology mimics tuberculous rather than pyogenic spondylodiscitis. A 65-year-old farming lady, while being in hospital, developed sudden onset spastic paraparesis with hyperreflexia. Later blood culture revealed Enterobacter agglomerans with 41-hour incubation in 99.9% probability from Ramel identification system. Her initial ESR was 120 mm/first hour. Isolate was susceptible to ciprofloxacin and intravenous followed with oral therapy shows a drastic ESR fall and improved clinical response. Differentiation of tuberculous and pyogenic spondylodiscitis is very much important in management point of view. Therefore, blood culture has a role in diagnosis of spondylodiscitis. ESR can be used as important inflammatory marker in monitoring the response to treatment. Retrospectively, ESR would aid in reaching a definitive diagnosis. PMID:28127480

Unusual case of small cell gastric carcinoma: case report and literature review.

PubMed

Richards, David; Davis, Daniel; Yan, Peisha; Guha, Sushovan

2011-04-01

Small cell carcinomas are among the most aggressive, poorly differentiated, and highly malignant of the neuroendocrine tumors (NETs). Of which, small cell gastric carcinoma is a rare small cell neuroendocrine tumor. The purpose of our study was to present this case and perform a comprehensive literature review. We review a case of small cell gastric carcinoma that is particularly unusual in that it occurred in a woman from the US when the majority of cases of small cell gastric carcinoma have been reported in men from East Asia, and more specifically, from Japan. The diagnosis was made after endoscopy revealed a large ulcerated mass in the gastric cardia of Borrmann type 3. Biopsies revealed multiple small basophilic cells underlying the squamous epithelium of the esophagus and cardiac mucosa, indicating the presence of a tumor at the gastroesophageal junction. Immunostaining established the diagnosis with positive stains for chromogranin, synaptophysin, and CD56. Our patient is being treated with chemotherapy, but many different treatment regimens have been tried for small cell gastric carcinoma with variable success. Overall prognosis for small cell gastric carcinoma is dismal. Neuroendocrine tumors in general have variable clinical behaviors and prognosis is dependent on the neuroendocrine tumor type. The adoption of a standardized classification system for neuroendocrine tumors could improve the recognition of infrequently encountered neuroendocrine tumors like small cell gastric carcinoma and will enhance strategies for treatment and thus improve prognosis for patients with these rare and aggressive tumors.

Unusual Cancers of Childhood Treatment (PDQ®)—Health Professional Version

Cancer.gov

The Unusual Cancers of Childhood Treatment summary addresses the treatment options for many uncommon childhood cancers. Get information about the diagnosis and treatment of cancers of the head and neck, chest, genitourinary system, and others in this summary for clinicians.

Primary iris leiomyoma.

PubMed

Yeaney, Gabrielle A; Platt, Sean; Singh, Arun D

Intraocular leiomyomas are uncommon and usually occur in the ciliary body. Primary leiomyoma of the iris is both rare and a difficult diagnosis to make, given melanocytic tumors are more common and may be amelanotic. The somewhat controversial diagnosis of iris leiomyoma requires further confirmation by immunohistochemistry and electron microscopy. Herein, we describe a 58-year-old man with a 2-mm round translucent pink lesion of the iris. The tumor was excised by sector iridectomy. Immunohistochemistry showed positivity for both smooth muscle actin and desmin and negativity for S-100, HMB45, SOX10, MelanA, CD31, CD34, and h-caldesmon. Epstein-Barr virus-associated smooth muscle tumor was excluded by chromogenic in situ hybridization-Epstein-Barr virus-encoded RNA. Ultrastructural analysis showed cytoplasmic myofilaments with focal fusiform densities and micropinocytotic vesicles. Our review of previous literature confirmed the unusual nature of this tumor. Primary iris leiomyoma should be considered in the differential of an amelanotic S-100-immunonegative iris tumor. Copyright © 2016 Elsevier Inc. All rights reserved.

Asperger's syndrome in adulthood.

PubMed

Roy, Mandy; Dillo, Wolfgang; Emrich, Hinderk M; Ohlmeier, Martin D

2009-01-01

Asperger's syndrome is one of the autism spectrum disorders. Affected individuals display considerably impaired capacity for social interaction, unusual special interests, and a tendency towards ritualized behavior. The etiology, symptoms, diagnosis, and treatment of Asperger's syndrome in adulthood are outlined on the basis of a selective literature review via Medline and information in relevant reference books. Furthermore, the authors report their personal experience at a special clinic for adults. Asperger's syndrome in adulthood can be diagnosed by thorough anamnesis, heteroanamnesis-with emphasis on childhood-and painstaking clinical examination. The considerable psychosocial impairments affect the patients' professional, social, and private lives. The precise etiology is still unknown, but a multifactorial origin with genetic, neurobiological, and psychosocial components appears probable. Although no specific, empirically tested treatment concepts have yet been established, psychotherapeutic elements (structuring and directive interventions) seem to be helpful, together with pharmacotherapy-if indicated-in the presence of comorbidity. Asperger's syndrome should be included in the differential diagnosis of adults who display the corresponding symptoms. The etiopathogenesis and treatment of Asperger's syndrome in adulthood should be further investigated.

Pancreatic perivascular epithelioid cell tumor: A case report with clinicopathological features and a literature review.

PubMed

Jiang, Hui; Ta, Na; Huang, Xiao-Yi; Zhang, Ming-Hua; Xu, Jing-Jing; Zheng, Kai-Lian; Jin, Gang; Zheng, Jian-Ming

2016-04-07

Perivascular epithelioid cell tumor (PEComa) of the pancreas is an unusual tumor deriving from mesenchyma. This paper described a case of pancreatic PEComa, which was initially suspected as neuroendocrine carcinoma by biopsy, and therefore surgical treatment was recommended due to undetermined diagnosis. Examination of the surgical specimen under a microscope showed that the tumor cell's morphology was epithelioid or spindle-shaped, and ranged in a nested pattern. Additionally, these cells had a large extent of acidophilic cytoplasm, no mitotic figures, and expressed HMB-45, melan-p, and smooth muscle actin immunohistochemically. Pathological examination indicated that PEComa originated from the pancreas, but symptoms related to tuberous sclerosis were absent. Since PEComa is extremely rare in the pancreas, it is likely to be ignored in differential diagnosis. In conclusion, our article highlighted the clinicopathological features of PEComa, and we conducted a literature review focusing on PEComa so as to deepen the understanding of this tumor type.

Pancreatic perivascular epithelioid cell tumor: A case report with clinicopathological features and a literature review

PubMed Central

Jiang, Hui; Ta, Na; Huang, Xiao-Yi; Zhang, Ming-Hua; Xu, Jing-Jing; Zheng, Kai-Lian; Jin, Gang; Zheng, Jian-Ming

2016-01-01

Perivascular epithelioid cell tumor (PEComa) of the pancreas is an unusual tumor deriving from mesenchyma. This paper described a case of pancreatic PEComa, which was initially suspected as neuroendocrine carcinoma by biopsy, and therefore surgical treatment was recommended due to undetermined diagnosis. Examination of the surgical specimen under a microscope showed that the tumor cell’s morphology was epithelioid or spindle-shaped, and ranged in a nested pattern. Additionally, these cells had a large extent of acidophilic cytoplasm, no mitotic figures, and expressed HMB-45, melan-p, and smooth muscle actin immunohistochemically. Pathological examination indicated that PEComa originated from the pancreas, but symptoms related to tuberous sclerosis were absent. Since PEComa is extremely rare in the pancreas, it is likely to be ignored in differential diagnosis. In conclusion, our article highlighted the clinicopathological features of PEComa, and we conducted a literature review focusing on PEComa so as to deepen the understanding of this tumor type. PMID:27053862

Imported occupational lead poisoning: report of four cases.

PubMed

Petracca, M; Scafa, F; Boeri, R; Flachi, Daniela; Candura, S M

2013-01-01

In most industrialized countries, occupational lead poisoning has become increasingly rare, however this metal remains a serious health hazard in the rest of the world. We observedfour male patients (aged 35 / 54 years) who had suffered recurrent abdominal pain due to recent lead exposure (for 7 to 13 months) in two Chinese battery recycling plants. On their return to Italy, three of them presented normocytic, normochromic anaemia. The diagnosis was confirmed by high lead levels in the blood and urine, decreased erythrocyte delta-aminolevulinic acid dehydratase (ALA-D), raised erythrocyte zinc protoporphyrin (ZP), and elevated urinary excretion of b-aminolevulinic acid (ALA-U) and porphyrins. Chelation with EDTA resulted in increased urinary lead excretion, improvement of the clinical picture, decreased ZP, and progressive normalization of the other lead biomarkers (Pb-B, ALA-D, ALA-U, urinary porphyrins). Temporary work in developing countries may result in imported lead poisoning. Differential diagnosis of this unusual condition requires careful medical history collection and specific toxicological analysis. Preventive measures for workers going abroad are needed.

Diagnostic Utility of Wireless Video-Electroencephalography in Unsedated Dogs.

PubMed

James, F M K; Cortez, M A; Monteith, G; Jokinen, T S; Sanders, S; Wielaender, F; Fischer, A; Lohi, H

2017-09-01

Poor agreement between observers on whether an unusual event is a seizure drives the need for a specific diagnostic tool provided by video-electroencephalography (video-EEG) in human pediatric epileptology. That successful classification of events would be positively associated with increasing EEG recording length and higher event frequency reported before video-EEG evaluation; that a novel wireless video-EEG technique would clarify whether unusual behavioral events were seizures in unsedated dogs. Eighty-one client-owned dogs of various breeds undergoing investigation of unusual behavioral events at 4 institutions. Retrospective case series: evaluation of wireless video-EEG recordings in unsedated dogs performed at 4 institutions. Electroencephalography achieved/excluded diagnosis of epilepsy in 58 dogs (72%); 25 dogs confirmed with epileptic seizures based on ictal/interictal epileptiform discharges, and 33 dogs with no EEG abnormalities associated with their target events. As reported frequency of the target events decreased (annually, monthly, weekly, daily, hourly, minutes, seconds), EEG was less likely to achieve diagnosis (P < 0.001). Every increase in event frequency increased the odds of achieving diagnosis by 2.315 (95% confidence interval: 1.36-4.34). EEG recording length (mean = 3.69 hours, range: 0.17-22.5) was not associated (P = 0.2) with the likelihood of achieving a diagnosis. Wireless video-EEG in unsedated dogs had a high success for diagnosis of unusual behavioral events. This technique offered a reliable clinical tool to investigate the epileptic origin of behavioral events in dogs. Copyright © 2017 The Authors. Journal of Veterinary Internal Medicine published by Wiley Periodicals, Inc. on behalf of the American College of Veterinary Internal Medicine.

Unusual Cancers of Childhood Treatment (PDQ®)—Health Professional Version

Cancer.gov

Very rare cancers in children include nasopharyngeal, thyroid, oral, salivary, laryngeal, breast, lung, esophageal, cardiac, adrenocortical, gastric, pancreatic, GIST, carcinoid tumors, colorectal, bladder, and skin cancer. Get information about the diagnosis and treatment of these unusual childhood cancers in this summary for clinicians.

Unusual headache syndromes.

PubMed

Queiroz, Luiz P

2013-01-01

Some headache syndromes have few cases reported in the literature. Their clinical characteristics, pathogenesis, and treatment may have not been completely defined. They may not actually be uncommon but rather under-recognized and/or underreported. A literature review of unusual headache syndromes, searching PubMed and ISI Web of Knowledge, was performed. After deciding which disorders to study, relevant publications in scientific journals, including original articles, reviews, meeting abstracts, and letters or correspondences to the editors were searched. This paper reviewed the clinical characteristics, the pathogenesis, the diagnosis, and the treatment of five interesting and unusual headache syndromes: exploding head syndrome, red ear syndrome, neck-tongue syndrome, nummular headache, and cardiac cephalgia. Recognizing some unusual headaches, either primary or secondary, may be a challenge for many non-headache specialist physicians. It is important to study them because the correct diagnosis may result in specific treatments that may improve the quality of life of these patients, and this can even be life saving. © 2013 American Headache Society.

Self injection of foreign materials into the penis.

PubMed

Ahmed, U; Freeman, A; Kirkham, A; Ralph, D J; Minhas, S; Muneer, A

2017-02-01

Injection of the subcutaneous tissues of the penis for enlargement of penile girth has been practised for many years by laypeople and medical practitioners alike. However, with recognition of the complications, the practice has died out. We report a series of five patients who presented having injected foreign materials into the subcutaneous tissues of their penises, including paraffin and mineral oils. Our patients had a variable time course of presentation ranging from 1 day following injection to over 26 years. Self-injection of the subcutaneous tissues of the penis is an unusual presentation for a penile mass but should be considered as a differential diagnosis in patients with a long latent period to presentation or with characteristic magnetic resonance imaging and histological appearances.

Self injection of foreign materials into the penis

PubMed Central

Freeman, A; Kirkham, A; Ralph, DJ; Minhas, S; Muneer, A

2017-01-01

Injection of the subcutaneous tissues of the penis for enlargement of penile girth has been practised for many years by laypeople and medical practitioners alike. However, with recognition of complications, the practice has died out. We report a series of five patients who presented having injected foreign materials into the subcutaneous tissues of their penises, including paraffin and mineral oils. Our patients had a variable time course of presentation ranging from 1 day following injection to over 26 years. Self-injection of the subcutaneous tissues of the penis is an unusual presentation for a penile mass but should be considered as a differential diagnosis in patients with a long latent period to presentation or with characteristic magnetic resonance imaging and histological appearances. PMID:27869491

Wegener's granulomatosis presenting as multiple bilateral renal masses: case report and literature review.

PubMed

Frigui, Makram; Ben Hmida, Mohamed; Kechaou, Manel; Jlidi, Rachid; Bahloul, Zouhir

2009-04-01

Wegener's granulomatosis (WG) is a disease of unknown etiology characterized by necrotizing granulomatous vascularitis. The upper and lower respiratory tract and kidney involvements are very common; however, its presentation as bilateral renal masses is unusual. We report a case of a 59-year-old female patient who presented with multiple bilateral renal masses. The patient presented with sinusal and ocular symptoms suggestive of WG, and positive antineutrophil cytoplasmic antibodies (c-ANCA) with an anti-PR3 pattern. Histopathologic examination of the renal biopsy specimen revealed granulomatous inflammation with vasculitis and fibrinoid necrosis. The patient management, including prednisone and cyclophosphamid, induced a marked improvement of the renal masses. This case illustrates that WG should be considered in the differential diagnosis of renal masses.

Primary adnexial hydatid cyst mimicking ovarian tumor

PubMed Central

Görgen, Hüsnü; Api, Murat; Çetin, Ahmet

2009-01-01

We report here the rare case of a 28-year-old woman with a large hydatid cyst in her left lower pelvis with an unusual sonographic presentation mimicking a multicystic ovarian tumor. Laparoscopic evaluation revealed normal uterus and ovaries with a swelling in the left retropritoneal area. We decided to reach this tumour by the vaginal route and multiple scolex, daughter cysts were removed via a left lateral vaginal wall incision. The pericystic cavity was thoroughly washed. The patient was discharged on the first postoperative day. Mebendazole (100 mg twice daily) was administered for 4 months. This parasite should be kept in mind and considered when making the differential diagnosis of pelvic cystic masses, particularly if the patient is from an endemic area. PMID:24591878

Cutaneous mucormycosis in advanced HIV disease.

PubMed

Moreira, José; Ridolfi, Felipe; Almeida-Paes, Rodrigo; Varon, Andrea; Lamas, Cristiane C

Angionvasive mucormycosis is an emerging fungal disease known to affect mainly diabetics or subjects with profound neutropenia. Infection usually occurs through the inhalation route, but cutaneous inoculation may occur after trauma or burns. However, mucormycosis remains unusual in HIV infection. We report a fatal case of cutaneous mucormycosis due to Rhizopus arrhizus involving the scalp following herpes zoster infection. The patient was a 42-year-old man with advanced AIDS failing on salvage antiretroviral therapy. The fungus was diagnosed on the basis of histopathology and culture. Our case emphasizes the need to consider mucormycosis in the differential diagnosis of necrotic cutaneous lesions in patients with late-stage HIV disease. Copyright © 2016 Sociedade Brasileira de Infectologia. Published by Elsevier Editora Ltda. All rights reserved.

Squamous cell carcinoma with sarcomatous stroma in the nasal cavity of a dog.

PubMed

Bosward, K L; Kessell, A E; Lucy, R J

2004-09-01

This is a report of an unusual squamous cell carcinoma in the nasal cavity of a dog. A 13-year-old Golden Retriever was presented with a unilateral nasal and ocular discharge. Although a nasal tumour was suspected, initial diagnostic investigations were unrewarding, and, with worsening clinical signs, the dog was euthanatized. Necropsy examination confirmed the presence of a nasal tumour that was composed histologically of both a well-differentiated squamous cell carcinoma component blending with a predominant spindle cell component. Immunohistochemical staining with anti-human keratin/cytokeratin (AE1/AE3, CAM 5.2 and broad spectrum cytokeratin), Vimentin, Desmin, smooth muscle actin and S-100 protein supported a diagnosis of a squamous cell carcinoma with (pseudo) sarcomatous stroma.

Atypical lymphocytosis resembling non-Hodgkin's lymphoma in peritoneal effusion of infectious mononucleosis: a case report.

PubMed

Tsuruta, Seiji; Ohyama, Satoko; Arai, Hanako; Kojima, Masaru; Johshita, Takashi; Suzuki, Yutaka

2004-01-01

Peritoneal effusion appears to be an unusual complication of infectious mononucleosis (IM). The cytological features of peritoneal effusion from a patient affected by IM are presented. The patient was a 21-year-old Japanese woman, with typical and physical findings of IM. Ascites disappeared with resolution of acute IM. The cytospin smears of the ascitic fluid were highly cellular, consisting exclusively of lymphoid cells. Lymphoid cells were composed of large cells with broad basophilic cytoplasm, as well as of small to medium-sized cells having scant cytoplasm and irregularly shaped nuclei. The overall cytomorphological pictures posed serious difficulties in differentiating this condition from those of peripheral T-cell lymphomas manifesting ascites. The majority of atypical lymphocytes, including large cells, expressed CD3 and CD8. The present case indicates that IM should be added to the list of lesions considered for the differential diagnosis of non-Hodgkin's lymphoma of the peritoneal fluid, particularly regarding young adults.

Ultrasound Visualization of Atypical Abscess Ultimately Containing Bot Fly Larva.

PubMed

Bovino, Patrick; Cole, John; Scheatzle, Mark

2016-08-01

Because of the rise in community-acquired methicillin-resistant Staphylococcus aureus (CA-MRSA), presentations to the emergency department for the evaluation of cutaneous abscesses have risen dramatically over the past 2 decades. Soft tissue point of care ultrasound (POCUS) differentiates abscess from cellulitis, determines the size and shape, and characterizes the contents of the abscess. It has been shown to improve medical decision-making and therefore the emergency management of cutaneous abscesses over physical examination alone. We report a case of an unusual nonhealing abscess in an 18-year-old woman with a recent history of foreign travel where soft tissue POCUS identified motion within the abscess pocket. This changed the management of the case, leading to the diagnosis of bot fly myiasis. WHY SHOULD AN EMERGENCY PHYSICIAN BE AWARE OF THIS?: Clinicians should entertain a broader differential for an apparent abscess and consider liberal use of soft tissue POCUS in these cases. Copyright © 2016 Elsevier Inc. All rights reserved.

The role of hypnosis in the detection of psychogenic seizures.

PubMed

Martínez-Taboas, Alfonso

2002-07-01

In this preliminary clinical investigation, hypnosis was used in the differential diagnosis of epileptic versus psychogenic seizures (PS). Eight patients with a clinical profile suggesting the presence of PS were given a hypnotic suggestion in which they had to go back in time to the exact moment of their last seizure. They were then asked to concentrate their attention on any unusual feeling or bodily sensation. All 8 patients presented a PS during the age regression protocol. In 6 cases, independent testimony from family members corroborated the morphological similarity of the induced attack and the ones presented in their natural environment. Also, the seizures ended abruptly after a command was given to stop them. A control group of 5 epileptic subjects did not present any signs of discomfort or seizure behavior during the hypnotic protocol. It is argued that a simple procedure as the one described in this investigation can be useful as a diagnostic tool in the differentiation of epileptic from PS attacks.

An unusual case of lumbar paravertebral miositis ossificans mimicking muscular skeletal tumor.

PubMed

Zoccali, C; Chichierchia, G; Covello, R

2013-12-01

Several lesions have clinical and radiological characteristics mimicking muscular skeletal tumor. Myositis ossificans usually presents a typical pattern making biopsy unnecessary; nevertheless, in rare cases, neoplasm must be ruled out. Biopsy is often sufficient to allow a diagnosis and a correct related treatment, but, unfortunately, sometimes it may lead to erroneous treatment. We report an unusual case of a lumbar paravertebral mass that had an MRI aspect similar to a chondrosarcoma, a histology pattern based on biopsy compatible with neurinoma and a definitive diagnosis of myosistis ossificans.

Tracheal Atresia with Segmental Esophageal Duplication: An Unusual Anatomic Arrangement.

PubMed

Gaerty, Kirsten; Thomas, Joseph T; Petersen, Scott; Tan, Edwin; Kumar, Sailesh; Gardener, Glenn; Armes, Jane

2016-01-01

An unusual anatomic configuration of segmental tracheal agenesis/atresia with esophageal duplication on autopsy in a fetus that demised in utero at 29 weeks is reported. The mother was scanned initially for a cardiac anomaly at 20 weeks and on follow-up scan at 27 weeks had polyhydramnios and underwent amnioreduction. The final autopsy diagnosis was vertebral, ano-rectal, cardiac, tracheoesophageal, renal, and limb malformations (VACTERL). We discuss the autopsy findings along with the embryological mechanisms and compare the configuration with Floyd's classification for tracheal agenesis. The difficulties in prenatal diagnosis are discussed.

Unusual Presentation of a Primary Ewing's Sarcoma of the Spine with Paraplegia: A Case Report.

PubMed

Kannan, Karthik Kailash; Sundarapandian, Rajkumar Jayachandran; Surulivel, Vignesh Jayabalan

2015-03-01

Ewing's sarcoma is a primary malignancy of the bone affecting individuals in the second decade of life. Primary sarcomas of the spine are rare and the occurrence of Primary Ewing's sarcoma in the spine is very rare. Ewing's sarcoma occurring in the spine is divided into two types, Ewing's sarcoma of sacral spine which are very aggressive with poor prognosis and Ewing's sarcoma of the non sacral spine which is an extremely rare occurrence. Patient may present with neurological deficit when the tumour extends into the spinal canal causing spinal cord compression. Magnetic resonance imaging (MRI) is very sensitive in diagnosing the tumour and defining the extent of the tumour. Here we report an 18-year-old boy who presented with back pain and complete paraplegia of two months duration. The MRI gave a differential diagnosis of infective pathology due to the fluid collection in the paraspinal region, followed by primary malignancy as the second diagnosis. Patient underwent posterior spinal decompression and stabilization, and intaoperatively there was significant collection of pus whose culture showed no growth. The histopathology and immunohistochemistry studies confirmed the diagnosis of Ewing's sarcoma and patient was started on combination chemotherapy and radiotherapy.

Persistent apical periodontitis associated with a calcifying odontogenic cyst.

PubMed

Estrela, C; Decurcio, D A; Silva, J A; Mendonça, E F; Estrela, C R A

2009-06-01

To report a case of calcifying odontogenic cyst (COC) that was suggestive of apical periodontitis adjacent to the roots of the maxillary incisor teeth. Tooth 21 presented with clinical and radiographic signs of secondary infection, a post within the root canal and substantial internal tooth destruction; it was scheduled for endodontic surgery. Teeth 12 and 22 were root filled following the placement of a calcium hydroxide intracanal dressing for 21 days. Three attempts at root canal disinfection in tooth 11 were unsuccessful, and a persistent purulent drainage precluded completion of root canal treatment. Surgical enucleation of the periapical lesion was undertaken and the tissues submitted for histopathological examination. A diagnosis of COC was established based on the microscopic analysis. COC is an unusual benign lesion that represents 2% of all odontogenic lesions. Depending on the stage of development, it can mimic a large lesion associated with apical periodontitis and should therefore be considered in the differential diagnosis. In the case of COC, the definitive diagnosis can only be made with histopathological analysis. Persistent apical periodontitis may be of nonendodontic origin. * Histological examination is essential to establish the cause of persistent apical periodontitis. * Calcifying odontogenic cyst can mimic apical periodontitis.

Child dermoid cyst mimicking a craniopharyngioma: the benefit of MRI T2-weighted diffusion sequence.

PubMed

Amelot, Aymeric; Borha, Alin; Calmon, Raphael; Barbet, Patrick; Puget, Stephanie

2018-02-01

Brain dermoid cysts are very rare lesions. Although benign, these cysts may be associated with devastating complications due to mass effect or meningitis. The discovery of completely asymptomatic dermoid cysts in the pediatric population is exceedingly rare. Despite the advances in imaging modalities, it sometimes remains difficult to exclude the differential diagnosis of craniopharyngioma. We describe a 12-year-old boy addressed for suspicion of craniopharyngioma diagnosed by decreased visual acuity, bitemporal hemianopia and a CT scan showing a large hypodense suprasellar lesion with intralesional calcifications. Despite the unusual localization and size of this lesion, the absence of dermal sinus commonly found, and before visualizing a hyperintense mass on MRI-diffusion, the diagnosis of craniopharyngioma was ruled out in favor of a dermoid cyst. Radical excision was performed. In the suprasellar area, craniopharyngioma and dermoid cyst may have very similar radiological aspects: low density masses on CT scan and a hyperintense signal on T1-weighted MRI sequences with a variable signal on T2-weighted sequences. Hitherto, only two cases in literature have described suprasellar dermoid cyst. Their initial diagnosis was facilitated by the presence of a dermal sinus.

Effects of radiation therapy on the lung: radiologic appearances and differential diagnosis.

PubMed

Choi, Yo Won; Munden, Reginald F; Erasmus, Jeremy J; Park, Kyung Joo; Chung, Woo Kyung; Jeon, Seok Chol; Park, Choong-Ki

2004-01-01

Radiation-induced lung disease (RILD) due to radiation therapy is common. Radiologic manifestations are usually confined to the lung tissue within the radiation port and are dependent on the interval after completion of treatment. In the acute phase, RILD typically manifests as ground-glass opacity or attenuation or as consolidation; in the late phase, it typically manifests as traction bronchiectasis, volume loss, and scarring. However, the use of oblique beam angles and the development of newer irradiation techniques such as three-dimensional conformal radiation therapy can result in an unusual distribution of these findings. Awareness of the atypical manifestations of RILD can be useful in preventing confusion with infection, recurrent malignancy, lymphangitic carcinomatosis, and radiation-induced tumors. In addition, knowledge of radiologic findings that are outside the expected pattern for RILD can be useful in diagnosis of infection or recurrent malignancy. Such findings include the late appearance or enlargement of a pleural effusion; development of consolidation, a mass, or cavitation; and occlusion of bronchi within an area of radiation-induced fibrosis. A comprehensive understanding of the full spectrum of these manifestations is important to facilitate diagnosis and management in cancer patients treated with radiation therapy. Copyright RSNA, 2004

Esophageal squamous cell carcinoma with dural and bone marrow metastases.

PubMed

Chen, Yen-Hao; Huang, Cheng-Hua

2014-09-21

Patients with esophageal squamous cell carcinoma generally present at an advanced stage at the time of diagnosis. The most common sites of visceral metastasis are the lung, liver and bone, but brain and bone marrow involvement is exceedingly rare. Herein, we report a 62-year-old man with a 4-wk history of progressive low back pain with radiation to bilateral lower legs, dysphagia and body weight loss. Esophageal squamous cell carcinoma with regional lymph node, liver and bone metastases was diagnosed. He underwent concurrent chemoradiotherapy and got a partial response. Four months later, he complained of headache, diplopia and severe hearing impairment in the left ear. There was no evidence for bacterial, fungal, tuberculous infection or neoplastic infiltration. Magnetic resonance imaging of the brain demonstrated thickening and enhancement of bilateral pachymeninges and multiple enhancing masses in bilateral skull. Dural metastasis was diagnosed and he received whole brain irradiation. In addition, laboratory examination revealed severe thrombocytopenia and leucopenia, and bone marrow study confirmed the diagnosis of metastatic squamous cell carcinoma. This is the first described case of esophageal squamous cell carcinoma with dural and bone marrow metastases. We also discuss the pathogenesis of unusual metastatic diseases and differential diagnosis of pachymeningeal thickening.

Differentiating the World History Course.

ERIC Educational Resources Information Center

Lasher, Mary E.

1986-01-01

An honors world history course for gifted tenth graders compacted traditional content while offering differential reading materials and content as well as differentiated skill development. Unusual activities, such as international feast and historical persons party, stressed divergent thinking. (CL)

Ovarian Sertoli-Leydig cell tumor with heterologous elements of gastrointestinal type associated with elevated serum alpha-fetoprotein level: an unusual case and literature review

PubMed Central

Horta, Mariana; Cunha, Teresa Margarida; Marques, Rita Canas; Félix, Ana

2014-01-01

Here we describe the case of a 19-year-old woman with a poorly differentiated ovarian Sertoli-Leydig cell tumor and an elevated serum alpha-fetoprotein level. The patient presented with diffuse abdominal pain and bloating. Physical examination, ultrasound, and magnetic resonance imaging revealed a right ovarian tumor that was histopathologically diagnosed as a poorly differentiated Sertoli-Leydig cell tumor with heterologous elements. Her alpha-fetoprotein serum level was undetectable after tumor resection. Sertoli-Leydig cell tumors are rare sex cord-stromal tumors that account for 0.5% of all ovarian neoplasms. Sertoli-Leydig cell tumors tend to be unilateral and occur in women under 30 years of age. Although they are the most common virilizing tumor of the ovary, about 60% are endocrine-inactive tumors. Elevated serum levels of alpha-fetoprotein are rarely associated with Sertoli-Leydig cell tumors, with only approximately 30 such cases previously reported in the literature. The differential diagnosis should include common alpha-fetoprotein-producing ovarian entities such as germ cell tumors, as well as other non-germ cell tumors that have been rarely reported to produce this tumor marker. PMID:25926909

Ovarian Sertoli-Leydig cell tumor with heterologous elements of gastrointestinal type associated with elevated serum alpha-fetoprotein level: an unusual case and literature review.

PubMed

Horta, Mariana; Cunha, Teresa Margarida; Marques, Rita Canas; Félix, Ana

2014-11-01

Here we describe the case of a 19-year-old woman with a poorly differentiated ovarian Sertoli-Leydig cell tumor and an elevated serum alpha-fetoprotein level. The patient presented with diffuse abdominal pain and bloating. Physical examination, ultrasound, and magnetic resonance imaging revealed a right ovarian tumor that was histopathologically diagnosed as a poorly differentiated Sertoli-Leydig cell tumor with heterologous elements. Her alpha-fetoprotein serum level was undetectable after tumor resection. Sertoli-Leydig cell tumors are rare sex cord-stromal tumors that account for 0.5% of all ovarian neoplasms. Sertoli-Leydig cell tumors tend to be unilateral and occur in women under 30 years of age. Although they are the most common virilizing tumor of the ovary, about 60% are endocrine-inactive tumors. Elevated serum levels of alpha-fetoprotein are rarely associated with Sertoli-Leydig cell tumors, with only approximately 30 such cases previously reported in the literature. The differential diagnosis should include common alpha-fetoprotein-producing ovarian entities such as germ cell tumors, as well as other non-germ cell tumors that have been rarely reported to produce this tumor marker.

Aspiration cytology of mammary analogue secretory carcinoma of the salivary gland.

PubMed

Jung, Min Jung; Kim, Sang Yoon; Nam, Soon Yuhl; Roh, Jong-Lyel; Choi, Seung-Ho; Lee, Jeong Hyun; Baek, Jung Hwan; Cho, Kyung-Ja

2015-04-01

Aspiration cytologic findings of mammary analogue secretory carcinoma (MASC), a newly established salivary gland neoplasm defined by a t(12;15)(p13;q25) ETV6-NTRK3 translocation, are not fully characterized to date. We report cytologic descriptions of nine cases of molecularly confirmed MASC, including two with unusual findings. Aspiration smears from nine MASCs of the salivary glands were retrospectively reviewed and analyzed according to the cellular and structural features of the corresponding surgical specimens. Aspiration smears of MASC generally reflected the histologic diversity of the tumors. Among usual histologic findings, a micropapillary pattern was associated with a predominance of vacuolated individual cells on aspiration smears, a papillary-cystic pattern with a predominance of thin branching papillary structures, and a microcystic pattern with a predominance of irregular sheets of eosinophilic cells. There were two unusual cases, one with three-dimensional groups of high-grade atypical cells, and one with epithelial clusters floating in a notably mucinous background. These cases represented MASC with high-grade transformation and MASC with cystadenocarcinoma-like features, respectively. The secretory activity of MASC was not prominent in the aspiration specimens. Although unusual cases were present, most MASC cases showed characteristic cytologic findings, which could aid the cytologic diagnosis of MASC. And knowledge of the histologic spectrum of MASC, including high-grade transformation, could be valuable for cytological differential diagnoses of salivary gland tumors, and the management of patients with MASC. © 2014 Wiley Periodicals, Inc.

Normothermic thyroid storm: an unusual presentation

PubMed Central

Sabir, Anas Ahmad; Sada, Kabiru; Yusuf, Bashir O.; Aliyu, Idris

2016-01-01

Thyroid storm is a rare life-threatening emergency due to thyrotoxicosis. A 30-year-old female presented with restlessness, tachycardia and vomiting but with normothermia which is an unusual presentation. There is the need for clinicians to be aware of atypical clinical features that can make the diagnosis of thyroid storm difficult. PMID:27540465

Pemphigus vegetans: An unusual presentation

PubMed Central

Dhamija, Ashish; D’souza, Paschal; Meherda, Ashok; Kothiwala, Raj K.

2012-01-01

Pemphigus vegetans is a rare variant of pemphigus vulgaris that is characterized by vegetating lesions primarily in the flexures. We report a 45-year-old male patient with an unusual presentation of the disease. A careful analysis of the clinical and laboratory findings enabled us to reach a diagnosis and successfully treat the patient. PMID:23189253

Delineating Extramammary Findings at Breast MR Imaging.

PubMed

Gao, Yiming; Ibidapo, Opeyemi; Toth, Hildegard K; Moy, Linda

2017-01-01

Breast magnetic resonance (MR) imaging is the only breast imaging modality that consistently encompasses extramammary structures in the thorax and upper abdomen. Incidental extramammary findings on breast MR images of patients with a history of breast cancer or other malignancies are significantly more likely to be malignant and may affect staging and treatment. An understanding of the frequency, distribution, and context of extramammary findings on breast MR images and a familiarity with common and uncommon sites of breast cancer metastasis inform the differential diagnosis and prompt the appropriate diagnostic next step, to differentiate benign from malignant findings. High-yield organ systems on breast MR images, as reflected by a high positive predictive value for malignancy, are correlated with known distant sites of breast cancer metastasis in the bone, lung, liver, and lymph nodes. Staging is considered when disease involves the skin and chest wall. Unusual sites of breast cancer metastasis from invasive lobular carcinoma are discussed, including the gastrointestinal tract, peritoneum, and adrenal glands. Nonmalignant clinically important findings involving the cardiovascular and gastrointestinal systems are reviewed, and potential pitfalls in diagnosis and interpretation are highlighted. A consistently systematic diagnostic approach is emphasized for identifying extramammary abnormalities on breast MR images. All things considered, the radiologist should be able to improve diagnostic sensitivity and specificity while interpreting extramammary findings on breast MR images. © RSNA, 2017.

Laparoscopic appendectomy

NASA Astrophysics Data System (ADS)

Richards, Kent F.; Christensen, Brent J.

1991-07-01

The accurate and timely diagnosis of acute appendicitis remains a difficult clinical dilemma. Misdiagnosis rates of up to 40% are not unusual. Laparoscopic appendectomy provides a definitive diagnosis and an excellent method for routine removal of the appendix with very low morbidity and patient discomfort.

Ectopic hepatic parenchyma attached to the diaphragm: simulating a pulmonary mass in a cat.

PubMed

Dhaliwal, Ravinder S; Lacey, Janice K

2009-01-01

A case of an ectopic lobe of the liver connected to a normal diaphragm is described. A 9-year-old, castrated male cat underwent thoracotomy for a pulmonary mass. The removed mass was attached to the diaphragm that histologically was ectopic liver. The ectopic liver had no connection with the main liver. Because the occurrence of ectopic supradiaphragmatic hepatic tissue is a possibility, this should be considered as a differential diagnosis for caudal pulmonary or caudal mediastinal masses in a cat. This report describes, to the authors' knowledge, the first case of ectopic hepatic tissue attached to the diaphragm of a cat. The authors also characterize the asymptomatic clinical presentation and radiographic findings of this cat and suggest further imaging with computed tomography in unusual case presentations.

Active Monitoring of a Humeral Osteoblastoma in a 52-Year-Old Male: A Case Report

PubMed Central

Bouchet, Juliette; Lassoued, Donia; Boussier, Nathalie; Birebent, Jordan; Oustric, Stephane; Rouge-Bugat, Marie-Eve

2015-01-01

An osteoblastoma is an uncommon benign but painful tumor, typically found on the axial skeleton or on long bones in the case of young patients. Some cases of humeral osteoblastomas have been described in literature but not in men older than 30. We report the case of a painless bone tumor on the humerus of a 52-year-old patient. The CT scan shows a 30 mm hypodense lacunar formation, surrounded by thickened cortical bone resembling an osteoid osteoma. The anatomopathological and immunohistological analyses support the thesis of an osteoblastoma. A course of radiological monitoring without surgical resection was adopted. This unusual case introduces the possibility of carrying out a differential diagnosis with an osteosarcoma and raises the question of the treatment that should be adopted. PMID:29147426

Pulmonary manifestations of inflammatory bowel disease.

PubMed

Majewski, Sebastian; Piotrowski, Wojciech

2015-12-10

Bronchopulmonary signs and symptoms are examples of variable extraintestinal manifestations of the inflammatory bowel diseases (IBD). These complications of Crohn's disease (CD) and ulcerative colitis (UC) seem to be underrecognized by both pulmonary physicians and gastroenterologists. The objective of the present review was to gather and summarize information on this particular matter, on the basis of available up-to-date literature. Tracheobronchial involvement is the most prevalent respiratory presentation, whereas IBD-related interstitial lung disease is less frequent. Latent and asymptomatic pulmonary involvement is not unusual. Differential diagnosis should always consider infections (mainly tuberculosis) and drug-induced lung pathology. The common link between intestinal disease and lung pathology is unknown, but many hypotheses have been proposed. It is speculated that environmental pollution, common immunological mechanisms and predisposing genetic factors may play a role.

Small-intestine pneumocystis jiroveci pseudotumor as an acquired immunodeficiency syndrome-presenting illness: report of a case and review of the literature.

PubMed

Zhou, Yi; Shetty, Jayarama; Pins, Michael R

2012-09-01

A Pneumocystis jiroveci infection-associated mass clinically mimicking a malignancy (ie, pseudotumor) is rare and usually occurs in the lung in association with Pneumocystis pneumonia. Pneumocystis jiroveci pseudotumors of the small intestine are extremely rare and represent an unusual form of disseminated P jiroveci infection. We present a case of small-intestine P jiroveci pseudotumor as an acquired immunodeficiency syndrome-presenting illness in a patient with coinfection with cytomegalovirus, no pulmonary symptoms, and no known risk factors for human immunodeficiency virus infection. This case reinforces the potential importance of cytomegalovirus coinfection in the disseminated form of Pneumocystis infection and illustrates the importance of an expanded differential diagnosis when confronted with a clinically atypical mass lesion.

Uterus bicornis bicollis, imperforate hemivagina and ipsilateral renal agenesis: case report and literature review.

PubMed

DaCosta, V; Christie, L; Wynter, S; Harriott, J; Frederick, J

2009-09-01

We present a case of a patient with Uterus bicornis bicollis, imperforate hemivagina and ipsilateral renal agenesis. This group of congenital malformations is often asymptomatic until puberty, when it presents as cyclic dysmenorrhoea, leucorrhoea or a pelvic mass. Magnetic resonance imaging is becoming the preferred modality for delineation of uterine malformations. When congenital abnormalities of the reproductive tract are encountered, a search should also be made for renal anomalies. Patients with Uterus bicornis bicollis and unilateral imperforate vagina are often seen with pain severe enough to mimic an acute abdomen. It is important to keep this unusual congenital malformation in mind in the differential diagnosis of vaginal discharge, pelvic mass and/or abdominopelvic pain in young women so as to avoid inappropriate surgical procedures.

Pediatric Diabetic Ketoacidosis With Hypotensive Shock and Rash-An Unusual Presentation.

PubMed

Pasternak, Yehonatan; Niv, Omer; Waisman, Yehezkel Hezi

2018-05-15

We describe a previously healthy adolescent boy who presented with respiratory distress, hypotensive shock, and a diffuse erythematous rash. The final diagnosis was diabetic ketoacidosis. Caregivers should be alert to this unusual combination of symptoms in the emergency department setting in order to improve the recognition and management of children with new-onset diabetes.

Renal vein thrombosis mimicking urinary calculus: a dilemma of diagnosis.

PubMed

Wang, Yimin; Chen, Shanwen; Wang, Wei; Liu, Jianyong; Jin, Baiye

2015-07-02

Renal vein thrombosis (RVT) with flank pain, and hematuria, is often mistaken with renal colic originating from ureteric or renal calculus. Especially in young and otherwise healthy patients, clinicians are easily misled by clinical presentation and calcified RVT. A 38-year-old woman presented with flank pain and hematuria suggestive of renal calculus on ultrasound. She underwent extracorporeal shock wave lithotripsy that failed, leading to the recommendation that percutaneous lithotomy was necessary to remove the renal calculus. In preoperative view of the unusual shape of the calculus without hydronephrosis, noncontrast computed tomography was taken and demonstrated left ureteric calculus. However computed tomography angiography revealed, to our surprise, a calcified RVT that was initially thought to be a urinary calculus. This case shows that a calcified RVT might mimic a urinary calculus on conventional ultrasonography and ureteric calculus on noncontrast computed tomography. Subsequent computed tomography angiography disclosed that a calcified RVT caused the imaging findings, thus creating a potentially dangerous clinical pitfall. Hence, it is suggested that the possibility of a RVT needs to be considered in the differential diagnosis whenever one detects an uncommon shape for a urinary calculus.

Florid papillomatosis of the nipple: a rare presentation and review of the literature.

PubMed

Salemis, Nikolaos S

2015-01-01

Florid papillomatosis (FP) of the nipple, or nipple adenoma, is a rare benign proliferative lesion originating from the lactiferous ducts of the nipple. It most commonly affects women in their fourth and fifth decades of life. Clinically, in most cases FP presents with serous or serosanguinous nipple discharge while in many cases an erythematoid or eroded lesion, a nodule or a swelling of the nipple may coexist thus resembling Paget's disease. We describe a case of FP with a very unusual clinical presentation. Diagnostic evaluation and management of the patient are discussed along with a review of the relevant literature. We conclude that FP should be always considered in the differential diagnosis of patients presenting with a rapidly enlarging nipple nodule even in the absence of any skin lesions or nipple discharge. Early diagnosis and prompt treatment are essential. Simple complete excision in order to eliminate the risk of recurrence is the treatment of choice for FP. Although in rare cases a coincidental ipsilateral or contralateral breast cancer has been reported, FP is considered as an entirely benign clinical entity associated with excellent prognosis.

Primary perivascular epithelioid cell tumor in the rectum: a case report and review of the literature.

PubMed

Im, Soyoung; Yoo, Changyoung; Jung, Ji-Han; Choi, Hyun Joo; Yoo, Jinyoung; Kang, Chang Suk

2013-04-01

Perivascular epithelioid cell tumor (PEComa) is a rare collection of tumors arising in a wide array of anatomic locations. It is characterized by the presence of a peculiar population of myomelanocytic marker-positive perivascular epithelioid cells, and is commonly detected in the uterus. The colorectal area is an uncommon site for primary PEComa. In this study, we describe a 17-year-old patient presenting with a rectal polyp. Histologically, the tumor consisted of sheets of round to polygonal epithelioid cells with clear and granular cytoplasm, and a prominent capillary network. Some of the tumor cells were positive for Fontana-Masson staining. Immunohistochemically, the tumor cells were positive for HMB-45, and were negative for cytokeratin, vimentin, S-100 protein, actin, desmin, EMA, CD34, and c-kit. After finding melanosomes or premelanosomes at the ultrastructural level, the diagnosis of PEComa was made. Although PEComa arising within the intestinal tract is unusual and clinically unexpected, PEComa should be considered in the differential diagnosis of rectal polypoid lesions. Copyright © 2013 Elsevier GmbH. All rights reserved.

[Branchiogen cyst at unusual age and in rare localization. A case report].

PubMed

Horvath, Dóra; Redl, Pál; Hegedűs, Csaba

2015-12-01

Branchiogen anomalies represent a heterogeneous group of developmental abnormalities, they arise from incomplete obliteration of branchial clefts and pouches during embriogenesis. Clinically they can present as a cyst, fistula or sinus. Second cleft lesions account for 95% of the branchial anomalies. Second branchial cleft cysts are usually located in the neck, along the anterior border of the stenocleidomastoid muscle, but they can be anywhere along the course of the second branchial fistula from the tonsillar fossa to the supraclavicular region. Their presence in the nasopharynx is extremely rare. Ultrasound, computed tomography (CT) or magnetic resonance imaging is recommended for diagnosis. Definitive treatment is surgical excision, these lesions do not regress spontaneously and often result recurrent infections. A 7 month old infant applied to a pediatrician with gastrointestinal viral infection. During examination a cystic mass was discovered in the right lateral nasopharyngeal wall, the lesion extended to the oropharynx. Marsupialisation was performed via transoral approach. In case of cystic lesion in the lateral epipharynx, branchial cleft cyst should be considered in the differential diagnosis.

Silent diabetes mellitus, periodontitis and a new case of thalamic abscess

PubMed Central

Karageorgiou, Ioannis; Chandler, Christopher; Whyte, Martin Brunel

2014-01-01

Brain abscess is an unusual complication of uncontrolled diabetes. A solitary thalamic abscess is an uncommon type of brain abscess. We report a case of thalamic abscess, whereupon diabetes mellitus and periodontitis were diagnosed. The diagnosis and management of thalamic abscess, and the interplay of type 2 diabetes and periodontitis are discussed. A 56-year-old, Caucasian, man with no medical or travel history, presented with 5-day symptoms of meningeal irritation. Body mass index 30.6 kg/m2. CT demonstrated a solitary midline lesion with neoplasia as a differential diagnosis. It was biopsied and cultures grew Streptococcus milleri. He was treated by stereotactic puncture, external drainage and targeted intrathecal and systemic antibiotic therapy. HIV negative but glycated haemoglobin (HbA1c) 10.7% (93 mmol/mol). Dental examination revealed a small molar abscess. Radiological resolution of the thalamic abscess occurred within 2 months. Diabetes improved with 7 weeks of insulin, and maintained on metformin, HbA1c 6.9% (51 mmol/mol). There was no residual neurological disability. PMID:25053670

Artery of Percheron: an unusual stroke presentation.

PubMed

Pitts-Tucker, Toby; Small, Jeremy

2018-03-28

An 86-year-old woman was admitted with multiple episodes of transient loss of consciousness. She was initially treated for seizures, and stroke was not considered likely. MRI on the same day of admission showed acute bilateral medial thalamic infarcts in keeping with the Artery of Percheron (AOP) territory infarcts. Investigation for polycythaemia and thrombocytosis showed JAK2 positive myeloproliferative neoplasm.A diagnosis of AOP infarction is often missed or delayed because it is rare and presents with variable neurological symptoms. Initial imaging in the form of CT is often negative, and some report that initial MRI findings may also be normal.An awareness of a wide range of differential diagnoses alongside a multi-modality imaging approach is required to reach a diagnosis.Although there are several other case reports of AOP infarction in the literature, this is the first to present with transient symptoms initially mistaken for seizure activity. © BMJ Publishing Group Ltd (unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

A Neolithic case of fibrous dysplasia from Çatalhöyük (Turkey).

PubMed

Milella, Marco; Knüsel, Christopher J; Haddow, Scott D

2016-12-01

The vast majority of primary burials at Neolithic Çatalhöyük (Central Anatolia, Turkey, 7100-6000cal BC) are recovered from beneath house floors, with burials in external spaces extremely rare. Excavations at Çatalhöyük in 1998 brought to light a young adult male buried in a midden (a burial location observed so far for only 4 out of 440 individuals), showing a suite of pathological features affecting the entire skeleton. The observed pathological changes include perimortem and antemortem fractures, proliferative and resorptive areas, thinning of the bone cortex, and localized areas of disorganized spongy bone invaded by fibrous tissue. We propose a differential diagnosis by considering a set of conditions: Paget's disease, osteomyelitis, hyperparathyrhoidism, Ollier's disease, fibrosarcoma, and fibrous dysplasia. The severity and distribution of the observed skeletal changes are consistent with a diagnosis of polyostotic fibrous dysplasia, a possibly debilitating and disfiguring condition. This, together with an unusual depositional context, may suggest a socially-mediated reaction to this individual's infirmity. Copyright © 2016 Elsevier Inc. All rights reserved.

Unusual Presentation of a Primary Ewing’s Sarcoma of the Spine with Paraplegia: A Case Report

PubMed Central

Sundarapandian, Rajkumar Jayachandran; Surulivel, Vignesh Jayabalan

2015-01-01

Ewing’s sarcoma is a primary malignancy of the bone affecting individuals in the second decade of life. Primary sarcomas of the spine are rare and the occurrence of Primary Ewing’s sarcoma in the spine is very rare. Ewing’s sarcoma occurring in the spine is divided into two types, Ewing’s sarcoma of sacral spine which are very aggressive with poor prognosis and Ewing’s sarcoma of the non sacral spine which is an extremely rare occurrence. Patient may present with neurological deficit when the tumour extends into the spinal canal causing spinal cord compression. Magnetic resonance imaging (MRI) is very sensitive in diagnosing the tumour and defining the extent of the tumour. Here we report an 18-year-old boy who presented with back pain and complete paraplegia of two months duration. The MRI gave a differential diagnosis of infective pathology due to the fluid collection in the paraspinal region, followed by primary malignancy as the second diagnosis. Patient underwent posterior spinal decompression and stabilization, and intaoperatively there was significant collection of pus whose culture showed no growth. The histopathology and immunohistochemistry studies confirmed the diagnosis of Ewing’s sarcoma and patient was started on combination chemotherapy and radiotherapy. PMID:25954672

Kimura's Disease without Peripheral Eosinophilia: An Unusual and Challenging Case Simulating Venous Malformation on Imaging Studies-Case Report and Review of literature.

PubMed

Dokania, Vivek; Patil, Digvijay; Agarwal, Ketan; Thakur, Prajakta; Prajapati, Piyush

2017-06-01

Kimura's Disease (KD) is a rare chronic inflammatory disorder presenting as multiple painless solitary subcutaneous nodules, predominantly in the head and neck region and frequently associated with regional lymphadenopathy and/or salivary gland involvement. Because of painless nature and indolent course, there is usually a delay in the patient's presentation. KD may radiologically mimic other chronic inflammatory conditions like tuberculosis, vascular malformations and neoplasms. Clinical correlation and histological evaluation along with elevated peripheral eosinophil and serum IgE level are considered important for confirmatory diagnosis. We report a case of painless swelling over right submandibular region extending to the right superficial parotid. The haematological reports were within normal limits. Ultrasound (USG), Magnetic Resonance Imaging (MRI) and Magnetic Resonance Angiogram (MRA) favoured a diagnosis of venous malformation. However, histopathological examination of excised lesion confirmed a diagnosis of KD. This case proves the possibility of the KD even in the absence of peripheral eosinophilia and/ or elevated serum IgE level, and may mimic venous malformation on imaging studies. Therefore, KD must find a place in the differentials of solitary painless neck swelling even in the absence of peripheral eosinophilia and/or elevated IgE level.

Systemic amyloidosis: unusual presentation mistaken for a recurrent scabies infection.

PubMed

Haley, Erin M; Nabatian, Adam S; Kopp, Sandra A; Falasca, Gerald F; Haupt, Helen M; Halpern, Analisa V

2014-06-01

We report the case of a 63-year-old woman with a history of undifferentiated connective-tissue disease, polyarthritis, and bilateral carpal tunnel syndrome who presented with generalized pruritus and erythematous and excoriated papules on the trunk and extremities. Empiric scabies treatment was unsuccessful. Patch testing and T-cell receptor gene rearrangement studies were unremarkable. The patient was found to have mild interstitial lung disease and hypogammaglobulinemia. Eventually a diagnosis of primary systemic amyloidosis was made after she developed frank lingual hypertrophy despite normal initial serum protein electrophoresis and negative abdominal fat pad aspiration. Diagnosis was confirmed with lingual biopsy. This case demonstrates an unusual presentation of primary systemic amyloidosis consisting of arthritis and intense debilitating pruritus without primary skin lesions for a full year prior to diagnosis of multiple myeloma. The patient responded to treatment with chemotherapy and corticosteroids.

Retroperitoneal dedifferentiated liposarcoma with huge cystic degeneration: A case report.

PubMed

Uchihashi, Kazuyoshi; Matsuyama, Atsuji; Shiba, Eisuke; Kimura, Yoshizo; Ogata, Toshiro; Yabuki, Kei; Harada, Hiroshi; Kubo, Chisachi; Tsuda, Yojiro; Jotatsu, Mao; Hisaoka, Masanori

2017-05-01

Prominent cyst formation is an unusual feature of liposarcoma. We report here a case of dedifferentiated liposarcoma with huge cystic change without preoperative chemo- or radiation therapy. The lesion arose in the retroperitoneum juxtaposed to the right kidney of a 67-year-old woman. She underwent a surgical removal of the retroperitoneal cyst. The cystic tumor contained 1600 mL of old bloody fluid, and its wall was composed of edematous, inflamed or sclerosing fibrous tissue with fatty tissue containing abundant atypical stromal cells, which were immunohistochemically positive for MDM2 and CDK4, and demonstrated MDM2 gene amplification by fluorescence in situ hybridization. The wall was contiguous to an atypical lipomatous nodule located in the mesentery. The following surgical specimens of the right hemicolectomy and right nephrectomy revealed atypical cells infiltrating into the subserosa of the colon and the perirenal fat tissue or that in the renal sinus. This case indicates that well differentiated or dedifferentiated liposarcoma should be also considered as a differential diagnosis of perirenal cystic mass. © 2017 Japanese Society of Pathology and John Wiley & Sons Australia, Ltd.

Unusual pattern of the first dorsal metacarpal artery.

PubMed

Bianchi, Homero; Saravia, Diego; Ottone, Nicolas Ernesto

2017-07-01

This report describes an unusual pattern of the first dorsal metacarpal artery (FDMA) regarding its course and termination. This FDMA had an abnormal course, passing deep to various anatomical elements related to the index finger, with unusual termination in the radial and ulnar proper palmar digital arteries feeding the second and third fingers, respectively. There is no mention of this anatomical variation in the literature. We report the possible embryological origin of this case and other variations related to the FDMA. This unusual pattern represents a new reason to consider anatomical knowledge important for surgeons whose procedures are in this area and to ensure an accurate diagnosis and safe treatment of pathologies that might engage this anatomical variation.

The cystic dilation of ventriculus terminalis with neurological symptoms: Three case reports and a literature review.

PubMed

Lotfinia, Iraj; Mahdkhah, Ata

2018-05-23

The ventriculus terminalis (VT) is a very small ependymal-lined residual lumen in the conus medullaris. It is normally present in all subjects during fetal development. VT in adults appears as an unusual pathology with an uncertain pathogenesis. In this paper, we described three case reports of symptomatic fifth ventricle cystic dilations. All of them were female and their mean age was 59 years. We treated them surgically and all three patients were improved based on clinical and imaging assessments. Our cases suggested that surgical decompression was a safe and effective treatment in symptomatic patients and the neurosurgeons should be aware of such rare situations. A complete list of differential diagnosis about other cystic dilations of the conus medullaris should be emphasized to select the correct clinical approach.

Gastric type mucinous endocervical adenocarcinoma of the uterine cervix: very rare and interesting case.

PubMed

Park, Chul Min; Koh, Hyun Min; Park, Soyun; Kang, Hye Sim; Shim, Soon Sup; Kim, Sung Yob

2018-01-01

Gastric type mucinous endocervical adenocarcinomas of the uterine cervix (GAC) are a newly classified mucinous subtype with morphologically in 2014, WHO. They have a much more aggressiveness and show unusual metastatic patterns compared to usual type endocervical adenocarcinoma. They tend to present at higher stage and even in stage I, they have worse survival. Therefore, differential diagnosis of GAC from the usual type of endocervical adenocarcinoma is very important because they are related to a significant risk of recurrence and decreased 5-year disease-specific survival. Besides, GACs are mostly not associated with human papillomavirus (HPV) infection and p16 immunohistochemistry is also typically negative in GAC that is HPV-unassociated tumor. We report a very rare and interesting case of stage IB1 GAC with negative HPV DNA and p16.

Paroxysmal dyskinesia as an unusual and only presentation of subcortical white matter ischaemia: a report of two cases.

PubMed

Norlinah, M I; Shahizon, A M M

2008-12-01

Secondary paroxysmal dyskinesias (PxD) have been previously reported in patients with multiple sclerosis, lacunar infarcts, head trauma, metabolic disorders such as hyperglycaemia, hypocalcaemia, migraine and central nervous system (CNS) infections. The causative lesions typically involve the basal ganglia structures, medulla and rarely the spinal cord. We report two patients who presented with paroxysmal dyskinesias as the only manifestation of subcortical white-matter ischaemia. Patient 1 presented with 3-year history of paroxysmal kinesigenic dyskinesia (PKD) and patient 2 with 6-month history of paroxysmal nonkinesigenic dyskinesia (PNKD). All investigations, including CSF oligoclonal bands were negative, except for a brain MRI which showed multiple, non-enhancing subcortical white matter lacunar infarcts. Therefore, subcortical white matter ischaemia should also be included in the differential diagnosis of PxD.

Pseudoangiomatous stromal hyperplasia causing massive breast enlargement

PubMed Central

Bourke, Anita Geraldine; Tiang, Stephen; Harvey, Nathan; McClure, Robert

2015-01-01

Pseudoangiomatous stromal hyperplasia (PASH) of the breast is a benign mesenchymal proliferative process, initially described by Vuitch et al. We report an unusual case of a 46-year-old woman who presented with a 6-week history of bilateral massive, asymmetrical, painful enlargement of her breasts, without a history of trauma. On clinical examination, both breasts were markedly enlarged and oedematous, but there were no discrete palpable masses. Preoperative image-guided core biopsies and surgery showed PASH. PASH is increasingly recognised as an incidental finding on image-guided core biopsy performed for screen detected lesions. There are a few reported cases of PASH presenting as rapid breast enlargement. In our case, the patient presented with painful, asymmetrical, massive breast enlargement. Awareness needs to be raised of this entity as a differential diagnosis in massive, painful breast enlargement. PMID:26475873

Giant radicular cyst of the maxilla

PubMed Central

Deshmukh, Jeevanand; Shrivastava, Ratika; Bharath, Kashetty Panchakshari; Mallikarjuna, Rachappa

2014-01-01

Radicular cysts are inflammatory odontogenic cysts of tooth bearing areas of the jaws. Most of these lesions involve the apex of offending tooth and appear as well-defined radiolucencies. Owing to its clinical characteristics similar to other more commonly occurring lesions in the oral cavity, differential diagnosis should include dentigerous cyst, ameloblastoma, odontogenic keratocyst, periapical cementoma and Pindborg tumour. The present case report documents a massive radicular cyst crossing the midline of the palate. Based on clinical, radiographical and histopathological findings, the present case was diagnosed as an infected radicular cyst. The clinical characteristics of this cyst could be considered as an interesting and unusual due to its giant nature. The lesion was surgically enucleated along with the extraction of the associated tooth; preservation of all other teeth and vital structures, without any postoperative complications and satisfactory healing, was achieved. PMID:24792022

Kikuchi-Fujimoto disease: an unusual association with acute renal failure.

PubMed

Silva, Amanda Feliciano da; Focaccia, Roberto; Oliveira, Allan Constantino de; Sementilli, Angelo; Reis, Gelvana Flávio Barreto

2010-01-01

Kikuchi-Fujimoto disease, also known as histiocytic necrotizing lymphadenitis of unknown etiopathogenesis, is a self-limited disease which frequently appears as feverish lymphadenomegaly, thus creating the need for differential diagnosis with lymphoma, systemic lupus erythematosus (SLE), infectious mononucleosis, cat-scratch disease, and toxoplasmosis with lymphonodal impairment. However, there are cases in which it may evolve with complications such as aseptic meningitis, cerebellar ataxia, and aseptic myocarditis. We are presenting a case of a 24-year-old man who had an initial picture of arthralgia, evening fever and adenomegaly. Kikuchi disease was diagnosed through lymph node biopsy with immunohistochemistry and evolves with severe systemic manifestations, such as pericarditis with cardiac tamponade, pneumonitis, hepatitis, and acute kidney failure - the latter has not been reported in literature yet. There was significant improvement of the clinical picture with prednisone.

Female-patterned alopecia in teenage brothers with unusual histologic features.

PubMed

Carlson, J Andrew; Malysz, Jozef; Schwartz, Joseph

2006-11-01

Patterned hair loss, follicular miniaturization, and increased telogen hair counts characterize androgenic alopecia (AGA). Follicular inflammation in AGA has been associated with treatment resistance and progressive hair loss. Brothers, 15 and 18 years old, presented with frontal and mid-scalp hair loss with an intact frontal hairline noted over a 1-year period. The elder reported past use of androgenic steroids. Laboratory assessment for metabolic and hormonal abnormalities was unrevealing, and hair pull test was negative. Scalp biopsies revealed decreased terminal hairs, marked diameter variation of anagen hairs, decreased terminal to vellus hair ratios (3.7:1/3.4:1, older/younger), and increased telogen counts (23%/21%). Infrabulbar and peri-isthmic (follicular bulge region) lymphocytic infiltrates were present. Hair loss has progressed, unabated by daily topical 0.5% clobetasol (for 6 months), daily 5% minoxidil (1 year), and latter, daily oral finasteride (2 years - older brother only). Based on patterned hair loss and miniaturized hairs, these brothers have AGA. The female pattern of hair loss (diffuse hair loss affecting the central scalp with preservation of frontal hair line) coupled with follicular isthmic lymphocytic inflammation represents an unusual presentation, possibly a treatment resistant, inflammatory variant of AGA. The differential diagnosis includes exogenous androgen-mediated hair loss, cicatricial pattern hair loss, or the superimposition of alopecia areata.

Unusual presentation of localized gingival enlargement associated with a slow-growing odontogenic myxoma

PubMed Central

Miranda Rius, Jaume; Nadal, Alfons; Lahor, Eduard; Mtui, Beatus; Brunet, Lluís

2013-01-01

Unusual presentation of localized gingival enlargement associated with a subjacent tumoural pathology is reported. The patient was a 55-year-old black male, whose chief complaint was a progressive gingival overgrowth for more than ten years, in the buccal area of the anterior left mandible. According to the clinical features and the radiological diagnosis of odontogenic keratocyst, a conservative surgery with enucleation and curettage was performed. Tissue submitted for histopathological analysis rendered the diagnosis of odontogenic myxoma. After 12-month of follow-up, no evidence of recurrence was found. Clinicians should be cautious when facing any gingival enlargement to avoid diagnostic pitfalls and to indicate the appropriate treatment. PMID:23722914

An unusual cause of post-operative orbital edema in a child after general anesthesia

PubMed Central

Tobias, Joseph D.; Jagannathan, Narasimhan; Sawardekar, Amod; Bhalla, Tarun

2011-01-01

We present an unusual ocular complication during the perioperative period, bilateral orbital edema in an otherwise healthy child after an outpatient surgical procedure. Ocular complications under general anesthesia remain a rare event. When periorbital edema is present, the appropriate work-up includes ruling out the potential for an allergic event by reviewing the medications administered and serum tryptase testing. Ophthalmology consultation should be considered to exclude pathology native to the eye itself. An allergist may assist in confirming a diagnosis and for allergic testing, if indicated. In our patient, the eventual diagnosis of exclusion was that of a localized reaction to the cellophane-based eye tape. PMID:21655032

An unusual cause of post-operative orbital edema in a child after general anesthesia.

PubMed

Tobias, Joseph D; Jagannathan, Narasimhan; Sawardekar, Amod; Bhalla, Tarun

2011-01-01

We present an unusual ocular complication during the perioperative period, bilateral orbital edema in an otherwise healthy child after an outpatient surgical procedure. Ocular complications under general anesthesia remain a rare event. When periorbital edema is present, the appropriate work-up includes ruling out the potential for an allergic event by reviewing the medications administered and serum tryptase testing. Ophthalmology consultation should be considered to exclude pathology native to the eye itself. An allergist may assist in confirming a diagnosis and for allergic testing, if indicated. In our patient, the eventual diagnosis of exclusion was that of a localized reaction to the cellophane-based eye tape.

Highly differentiated keratinizing squamous cell cancer of the cervix: a rare, locally aggressive tumor not associated with human papillomavirus or squamous intraepithelial lesions.

PubMed

Morrison, C; Catania, F; Wakely, P; Nuovo, G J

2001-10-01

The purpose of this study is to report an unusual variant of cervical squamous cell carcinoma, not associated with either human papillomavirus infection or antecedent squamous intraepithelial lesions. Five women had a diagnosis of invasive cervical cancer discovered at hysterectomy performed for prolapse (two cases), leiomyoma (one case), or a vaginal fistula (two cases). The women ranged in age from 47 to 78 years (mean 59 years). Four of the five had a history of normal Papanicolaou (Pap) smears; the other had a Pap smear diagnosis of atypical squamous cells of undetermined significance (ASCUS). All had large cervical tumors (two with parametrial involvement and one with vaginal involvement) that showed extensive keratin formation, an inverted pattern of growth, and, except for one case, minimal cytologic atypia. There was extensive hyperkeratosis and parakeratosis adjacent to each tumor; none had evidence of squamous intraepithelial lesion. Human papillomavirus testing by polymerase chain reaction in situ hybridization and reverse-transcribed polymerase chain reaction in situ was negative in each case, compared with a detection rate of 107 of 108 (99%) for squamous intraepithelial lesion-associated cervical squamous cell and adenocarcinomas. Two of the women died of extensive local recurrence; two other women were recently diagnosed. We conclude that highly differentiated keratinizing squamous cell carcinoma of the cervix is a rare entity not associated with human papillomavirus infection or squamous intraepithelial lesion and thus difficult to detect on routine cervical cancer screening.

An Unusual Localization of Intraosseous Schwannoma: The Hamate Bone.

PubMed

Gurkan, Volkan; Sonmez, Cavide; Aralasmak, Ayse; Yildiz, Fatih; Erdogan, Ozgur

2017-01-11

Intraosseous schwannoma of the hamate bone presented in this case is a very rare benign tumor, and its diagnosis combined with clinical, imaging and needle biopsy is important to guide further therapy. The diagnosis of schwannoma of the hamate was proved histologically following its surgical treatment by curettage.

Addison disease presenting with acute neurologic deterioration: a rare presentation yields new lessons from old observations in primary adrenal failure.

PubMed

Myers, Kenneth A; Kline, Gregory A

2010-01-01

To report a rare case of Addison disease presenting with acute neurologic deterioration, and to discuss previous reports and illustrative clinical lessons drawn from the case. We detail the clinical presentation and sequence of events leading to diagnosis of Addison disease in a 20-year-old man whose initial symptoms were those of acute neurologic deterioration. A 20-year-old man presented with acute, rapid neurologic deterioration. The patient required intubation, but his condition responded very well to mannitol and dexamethasone. Head computed tomography showed a fourth ventricle reduced in size and basal cistern effacement, changes consistent with mild cerebral edema. Primary adrenal insufficiency was diagnosed after a low morning cortisol concentration prompted a corticotropin-stimulation test and serum aldosterone measurement (undetectable). The diagnosis was almost missed because of suspected confounders of dexamethasone and etomidate use. Subsequently, the patient tested positive for anti-21- hydroxylase antibodies. Cerebral edema rarely occurs with Addison disease and is most likely secondary to hyponatremia. Diagnosis in such cases may be complicated by resuscitative therapies; however, low cortisol levels should always be thoroughly investigated. This patient's presentation was also unique in that he maintained a normal electrolyte profile despite hypoaldosteronism, a phenomenon that may be explained by enhanced mineralocorticoid activity of exogenous cortisol. The diagnosis of primary adrenal insufficiency may not be suspected in the absence of classic hyperpigmentation and hyperkalemia, but should remain in the differential diagnosis of acute confusion. While the use of dexamethasone and etomidate in initial resuscitation can transiently suppress adrenal function, any unusually low cortisol level merits thorough investigation.

Splenic torsion, a challenging diagnosis: Case report and review of literature.

PubMed

Viana, C; Cristino, H; Veiga, C; Leão, P

2018-01-01

Wandering spleen is an unusual condition characterized by hypermobility of the spleen. This is a rare clinical entity and it's more common in childhood under 1 year of age and in third decade of life. In this second peak, it's more frequent in females. Clinical manifestations can vary from asymptomatic to abdominal emergency. Treatment is often surgical. We presented a case report of splenic torsion from our hospital and a review of cases described in literature. This is a 40 year-old woman with complaints of upper abdominal pain associated with nausea and vomiting. A marked tenderness and a palpable abdominal mass on left hypochondrium were found as well as a slight increase in inflammatory parameters. A CT was performed and demonstrated findings compatible with splenic torsion. Surgery was performed doing laparoscopic splenectomy; Review of literature was made using the keyword combination: "wandering spleen". The research resulted in 451 articles. The physical examination and CT are fundamental for diagnosis. Surgery was performed and laparoscopic splenectomy was made because infarcted spleen; about the review of literature, the majority of patients were female and the average age at the time of diagnosis was 25.2 years. 69.5% needed splenectomy and 78.6% of surgeries were laparotomic. Splenic torsion is a rare but important differential diagnosis in patients presenting with acute abdomen. Diagnosis should be made promptly before development of life-threatening complications. Surgery is often necessary and splenopexy or splenectomy can be done. Copyright © 2018 The Authors. Published by Elsevier Ltd.. All rights reserved.

Unusual presentation of anaplastic large cell lymphoma with clinical course mimicking fever of unknown origin and sepsis: autopsy study of five cases.

PubMed

Mosunjac, Marina B; Sundstrom, J Bruce; Mosunjac, Mario I

2008-10-01

To describe a subset of cases with the unusual clinical and histomorphological presentation of anaplastic large cell lymphoma (ALCL) mimicking fever of unknown origin (FUO) and sepsis. A pathology database was searched using full term Systematized Nomenclature of Medicine codes for ALCL to identify 23ALCL cases from the period 1999-2006. Of those, five cases that did not have a correct premortem diagnosis were further analyzed to elucidate the reasons for delayed and incorrect pre-mortem diagnosis. The analyzed data included clinical presentation, duration of symptoms, duration of hospital stay, premortem presumed cause of death, white blood cell count, platelet count, anion gap and blood pH, liver enzymes (alanine aminotransferase, aspartate aminotransferase, lactate dehydrogenase, alkaline phosphatase), lactate, coagulation tests (prothrombin time, partial thromboplastin time, fibrinogen, D-dimers), microbiology cultures, and radiology and surgical pathology reports. Autopsy reports were reviewed for description of major gross findings, initial clinical diagnosis, and cause of death. Five fatal and pre-mortem unrecognized ALCL cases were characterized by rapid decline, with histologic findings showing predominantly extranodal involvement, intravascular lymphomatosis, and hemophagocytosis. The cases were also characterized by unusual clinical manifestations including a FUO, sepsis, and disseminated intravascular coagulation-like picture, lactic acidosis, hepatosplenomegaly, and absence of significant peripheral adenopathy. There is a distinct group of ALCLs with unique and specific clinical, gross autopsy, and histopathologic findings. Recognition of this clinical variant may facilitate early detection and potentially timely diagnosis and therapy.

Nail Scabies: An Unusual Presentation Often Overlooked and Mistreated.

PubMed

Tempark, Therdpong; Lekwuttikarn, Ramrada; Chatproedprai, Susheera; Wananukul, Siriwan

2017-04-01

Nail scabies is an interesting clinical presentation of scabies. Although it is usually found concomitant with characteristic dermatologic manifestations, it may present as an isolated finding in the immunocompromised host. This condition is commonly mistaken with other diseases such as nail dystrophy, nail psoriasis and onychomycosis. We report two cases of unusual nail presentations that provide clues to diagnosis. Also, literature on unusual nail and dermatologic presentations was reviewed to recognize dermatologist consideration for appropriate treatment options. © The Author [2016]. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

Unusual staphylococcal toxic shock syndrome presenting as a scarlet-like fever.

PubMed

Andrey, D O; Ferry, T; Siegenthaler, N; Fletcher, C; Calmy, A; Lina, G; Emonet, S

2015-11-01

Diagnosis of nonmenstrual staphylococcal toxic shock syndrome (TSS) is often challenging. A female medical colleague had a rare entity, a staphylococcal pharyngitis complicated by TSS. The diagnosis was confirmed by isolation of tst-positive Staphylococcus aureus in throat culture and by identification of a specific Vβ2 expansion pattern of her T lymphocytes. Recent improvements in microbiology can be of great help for the diagnosis of nonmenstrual TSS.

Fatal fat embolism in isolated vertebral compression fracture

PubMed Central

Saldanha, Vilas; Balasubramanian, Manjula; Handal, John

2010-01-01

Fat embolism after long bone and pelvic fractures as well as orthopedic interventions is a well-documented phenomenon, but it is highly unusual after isolated vertebral fractures. We report a case of fatal fat embolism in a 78-year-old man after an isolated vertebral compression fracture with no related orthopedic intervention. A high index of suspicion is necessary for early diagnosis and successfully treating this unusual complication. PMID:20229119

Fatal fat embolism in isolated vertebral compression fracture.

PubMed

Lastra, Ricardo R; Saldanha, Vilas; Balasubramanian, Manjula; Handal, John

2010-07-01

Fat embolism after long bone and pelvic fractures as well as orthopedic interventions is a well-documented phenomenon, but it is highly unusual after isolated vertebral fractures. We report a case of fatal fat embolism in a 78-year-old man after an isolated vertebral compression fracture with no related orthopedic intervention. A high index of suspicion is necessary for early diagnosis and successfully treating this unusual complication.

[Pheochromocytoma and cardiogenic failure: an indication for emergency adrenalectomy].

PubMed

Vandwalle, J; Spie, R; Jarry, G; Agaesse, V; Petit, J; Saint, F

2010-07-01

To identify cardiogenic failure or cardiogenic shock associated with pheochromocytoma diagnosis and emergency adrenalectomy. Update this unusual presentation of pheochromocytoma. Between 1998 and 2009, 119 adrenalectomies were performed in our department, among which 19 cases for pheochromocytoma. We reported three cases with cardiogenic failure or cardiogenic shock associated with emergency adrenalectomy. Patients were 36, 41 and 67 years old. The elapsed time between cardiogenic failure and surgery was 0, 7 and 19 days. The first diagnosis was a viral myocarditis in those three cases. The diagnosis of adrenal pheochromocytoma was done in a second step by the association of adrenal tumour on abdominal CT scan and detection of significantly elevated plasma/urine catecholamine. Severe systolic dysfunction with low ejection fraction was associated in all cases. Cardiac function was quickly restored after adrenalectomy. Cardiac emergency associated with pheochromocytoma is an unusual clinical presentation. When diagnosis fails to be performed, patients have a very poor prognosis. According to a review of the sparse literature, only early recognition and emergency adrenalectomy can improve the outcome. Copyright 2010. Published by Elsevier Masson SAS.

Gastric Metastasis as the First Presentation One Year Before Diagnosis of Primary Breast Cancer.

PubMed

Woo, Joohyun; Lee, Joo-Ho; Lee, Kyoung Eun; Sung, Sun Hee; Lim, Woosung

2018-03-26

BACKGROUND Metastasis to the stomach can be found as the first presentation of breast cancer, although it is very rare. The authors report an unusual case of metastasis to the stomach as the first presentation of breast cancer, which had a good prognosis. CASE REPORT A 51-year-old female underwent radical subtotal gastrectomy and chemotherapy because of gastric cancer with distant metastasis. At the time of diagnosis of gastric cancer, she had a negative result from routine mammography. One year later, a newly detected lesion on routine mammography was confirmed as breast cancer. Initial diagnosis of gastric cancer was changed to metastatic carcinoma from breast cancer through immunohistochemistry after bilateral mastectomy. After the completion of chemotherapy, she is currently receiving treatment with letrozole, without recurrence for 66 months. CONCLUSIONS Considering metastasis from breast cancer might be needed when unusual presentation of gastric cancer is observed even though gastric cancer is still one of the most common malignancies in Korea. Immunohistochemical analysis is helpful for diagnosis. Surgery for metastatic carcinoma of the stomach could be another option for treatment.

Clinico-Radiological Diagnosis of Isolated Congenital Esophageal Stenosis in a Preterm Neonate

PubMed Central

Sham, Minakshi

2013-01-01

A 2-day-old preterm female neonate weighing 1.6 kg and having excessive frothing from mouth was investigated for suspected esophageal atresia and tracheoesophageal fistula. X-ray findings of an unusually low-ending upper pouch (up to T8 level) and the absence of gas in abdomen lead to suspicion of an unusual variety of esophageal atresia. Hence unlike the usual management of pure esophageal atresia, in terms of esophagostomy and gastrostomy in neonatal period, right thoracotomy was performed allowing successful primary anastomosis. A high index of suspicion on the basis of radiological picture led to early diagnosis of a rare anomaly like congenital esophageal stenosis and successful management of this low birth weight baby. PMID:25755945

Fetus-in-Fetu: An Unusual Cause for Abdominal Mass in Infancy

PubMed Central

Grosfeld, Jay L.; Stepita, Donald S.; Nance, Walter E.; Palmer, Catherine G.

1974-01-01

Fetus-in-fetu is an unusual cause of retroperitoneal abdominal mass in infants, which most likely arises from inclusion of a monozygotic, diamniotic twin. This entity is distinguished from teratoma by its embryological origin, its unusual location in the retroperitoneal space, its invariable benignity, and by the presence of vertebral organization with limb buds and well-developed organ systems. Diagnosis is made radiographically by the finding of a diminutive vertebral column on a plain abdominal film. The treatment of choice is total excision with special attention being given to the fetus' blood supply which may be directly from the host's superior mesenteric vessels. A well-documented example of this unusual entity that occurred in a six-week old infant male is presented. ImagesFig. 1.Fig. 2.Fig. 3. PMID:4471720

Warthin tumor in an unusual site: a case report.

PubMed

Pereira, J; Machado, S; Lima, F; Lima, M; Miguel, M

2013-05-01

Warthin tumor (papillary cystadenoma lymphomatosum, adenolymphoma) is a benign neoplasm from salivary glands and is almost restricted to the parotid gland and the periparotid lymph nodes. Its etiopathogenesis has been associated with tobacco smoke. Several authors believe that the tumor develops from heterotopic salivary gland tissues or through the attraction of a heavy lymphoid reaction. Most cases involve the lower pole or the tail of the parotid. Since its description, a few cases have been reported in other sites, like the submandibular salivary gland. This study aimed to describe a rare presentation of a Warthin tumor and discuss its etiology and differential diagnosis. A 72-year-old male patient presented an asymptomatic, nodular mass adjacent to the submandibular salivary gland. Based on clinical diagnosis of cervical lymphadenopathy, the patient underwent a surgical excision of the lesion. Histopathological exam revealed a benign neoplasm from salivary glands composed of two components: epithelial and lymphoid. The findings were consistent with Warthin tumor. Warthin tumor from submandibular salivary gland is a rare lesion. Professionals should not misinterpret their site of origin, as if they were from the lower pole or the tail of the parotid.

Cognitive and noncognitive neurological features of young-onset dementia.

PubMed

Kelley, Brendan J; Boeve, Bradley F; Josephs, Keith A

2009-01-01

The rarity of young-onset dementia (YOD), the broad differential diagnosis and unusual clinical presentations present unique challenges to correctly recognize the condition and establish an accurate diagnosis. Limited data exist regarding clinical features associated with dementia prior to the age of 45. We retrospectively assessed cognitive and noncognitive neurological characteristics of 235 patients who presented for evaluation of YOD to investigate the clinical characteristics of YOD compared to later-onset dementias and to identify clinical features associated with specific etiologies that may aid in the evaluation of YOD. Multiple cognitive domains were affected in most patients, and no significant differences in affected domains existed between groups. Early psychiatric and behavioral features occurred at very high frequencies. Nearly 80% of this YOD cohort had additional noncognitive symptoms or signs as a feature of their disease. Chorea was strongly associated with Huntington disease. Parkinsonism was not seen in patients having an autoimmune/inflammatory etiology. The rarity of YOD and the high frequency of early psychiatric features led to frequent misdiagnosis early in the clinical course. The high frequency of noncognitive symptoms and signs may aid clinicians in distinguishing patients requiring a more extensive evaluation for YOD.

Intracranial phosphaturic mesenchymal tumor, mixed connective tissue variant presenting without oncogenic osteomalacia.

PubMed

Bower, Regina S; Daugherty, Wilson P; Giannini, Caterina; Parney, Ian F

2012-01-01

Phosphaturic mesenchymal tumor, mixed connective tissue variant (PMTMCT) is a rare tumor typically occurring in soft tissues and bone, causing oncogenic (tumor-induced) osteomalacia (TIO) through secretion of the phosphaturic hormone, fibroblast growth factor-23 (FGF-23). Rare tumors identical to PMTMCT occur without known TIO. Intracranial localization of PMTMCT is extremely rare, with only two cases reported in the literature. We present a very unusual case of a patient with an intracranial PMTMCT that presented with neurologic changes without osteomalacia. A 67-year-old woman presented with progressive incontinence, apathy, and abulia after having undergone a total knee replacement 1 month earlier. Imaging disclosed a large left frontal anterior fossa mass. She underwent uncomplicated surgical resection of this tumor. Surprisingly, histopathology suggested PMTMCT. Reverse transcription polymerase chain reaction (RT-PCR) assay demonstrating FGF-23 expression in the tumor confirmed the diagnosis. Serum FGF-23 levels postoperatively were normal and she had no clinical or laboratory evidence of osteomalacia or phosphaturia. This report should serve to alert clinicians to the possibility that PMTMCT can be included in the differential diagnosis of intracranial masses even in the absence of tumor-induced osteomalacia.

Lingual dyskinesia and tics: a novel presentation of copper-metabolism disorder.

PubMed

Goez, Helly R; Jacob, Francois D; Yager, Jerome Y

2011-02-01

Copper is a trace element that is required for cellular respiration, neurotransmitter biosynthesis, pigment formation, antioxidant defense, peptide amidation, and formation of connective tissue. Abnormalities of copper metabolism have been linked with neurologic disorders that affect movement, such as Wilson disease and Menkes disease; however, the diagnosis of non-Wilson, non-Menkes-type copper-metabolism disorders has been more elusive, especially in cases with atypical characteristics. We present here the case of an adolescent with a novel presentation of copper-metabolism disorder who exhibited acute severe hemilingual dyskinesia and prominent tics, with ballismus of the upper limbs, but had normal brain and spinal MRI results and did not show any signs of dysarthria or dysphagia. His serum copper and ceruloplasmin levels were low, but his urinary copper level was elevated after penicillamine challenge. We conclude that copper-metabolism disorders should be included in the differential diagnosis for movement disorders, even in cases with highly unusual presentations, because many of them are treatable. Moreover, a connection between copper-metabolism disorders and tics is presented, to our knowledge, for the first time in humans; further investigation is needed to better establish this connection and understand its underlying pathophysiology.

Clinical diagnostic dilemma of intracranial germinoma manifesting as wide skull base extension.

PubMed

Zhou, Zhi-hang; Zhang, Hai-bo; Rao, Jun; Bian, Xiu-wu

2014-09-01

The aims of this study were to present an uncommon intracranial germinoma manifesting as skull base extension and analyze its clinical characteristics to give valuable insight into such uncommon radiologic variant. This is a clinical study of a 15-year-old girl with intracranial germinoma manifesting as skull base extension. Clinical characteristics, magnetic resonance imaging scan observations, pathologic findings, and flow of the treatment procedure were presented and analyzed. She had a 5-month history of diuresis and diplopia. magnetic resonance imaging observation displayed a neoplasm located in the right-side central skull base and suprasellar area with wide extension into the cavernous sinus, intraorbital region, ethmoidal sinus, sphenoid sinus, and pituitary fossa. After administration of contrast medium, strong and heterogeneous enhancement of the mass was observed, with a dural tail sign along the right cerebellar tentorial. Right pterional approach was performed, and intraoperative histologic examination suspected the diagnosis of germinoma; partial resection was achieved, and postoperative radiotherapy was administered. Cranial nerve palsy improved greatly 6 months postoperatively. Although highly unusual, germinoma should be included in the differential diagnosis of all masses with extension along the midline region of skull base, especially when it happens in young female patients.

A clinician’s guide to recurrent isolated sleep paralysis

PubMed Central

Sharpless, Brian A

2016-01-01

This review summarizes the empirical and clinical literature on sleep paralysis most relevant to practitioners. During episodes of sleep paralysis, the sufferer awakens to rapid eye movement sleep-based atonia combined with conscious awareness. This is usually a frightening event often accompanied by vivid, waking dreams (ie, hallucinations). When sleep paralysis occurs independently of narcolepsy and other medical conditions, it is termed “isolated” sleep paralysis. Although the more specific diagnostic syndrome of “recurrent isolated sleep paralysis” is a recognized sleep–wake disorder, it is not widely known to nonsleep specialists. This is likely due to the unusual nature of the condition, patient reluctance to disclose episodes for fear of embarrassment, and a lack of training during medical residencies and graduate education. In fact, a growing literature base has accrued on the prevalence, risk factors, and clinical impact of this condition, and a number of assessment instruments are currently available in both self-report and interview formats. After discussing these and providing suggestions for accurate diagnosis, differential diagnosis, and patient selection, the available treatment options are discussed. These consist of both pharmacological and psychotherapeutic interventions which, although promising, require more empirical support and larger, well-controlled trials. PMID:27486325

Low back pain caused by a duodenal ulcer.

PubMed

Weiss, D J; Conliffe, T; Tata, N

1998-09-01

The common diagnoses in low back pain are lumbar strain, lumbosacral radiculopathy, osteoarthritis, degenerative disc disease, spinal stenosis, and sacroiliac joint dysfunction. Unusual causes of low back pain that have been previously identified include abdominal aortic aneurysms, pelvic neoplasms, and retroperitoneal hemorrhages. This report describes a case of back pain that was apparently caused by a duodenal ulcer. A 54-year-old man with no significant medical history presented with a complaint of mid to low back pain (T10-L2), which was diagnosed as joint dysfunction. A comprehensive treatment program was prescribed and the patient was instructed to return to clinic in 4 weeks. Three weeks later, he experienced a syncopal episode followed by coffee ground emesis. He immediately sought medical attention at an emergency room, where he was admitted to the hospital with a diagnosis of upper gastrointestinal bleed. Esophagogastroduodenoscopy showed a large duodenal ulcer, and the patient underwent vagotomy and pyloroplasty. He returned to his physiatrist's office 3 weeks after hospital discharge with minimal back pain. The cause of the back pain proved to be referred visceral pain from his duodenal ulcer. This case is presented to reemphasize the need to include the uncommon phenomena in the differential diagnosis of low back pain.

An unusual cause of ankle pain: fracture of a talocalcaneal coalition as a differential diagnosis in an acute ankle sprain: a case report and literature review

PubMed Central

2013-01-01

Background The acute ankle sprain is one of the most common injuries seen in trauma departments. Ankle sprains have an incidence of about one injury per 10 000 people a day. In contrast tarsal coalition is a rare condition occurring in not more than one percent of the population. Case presentation We present the case of a 23 year old male patient with pain and local swelling after an acute ankle sprain. Initial clinical and radiological examination showed no pathologies. Due to prolonged pain, swelling and the inability of the patient to weight bear one week after trauma further diagnostics was performed. Imaging studies (MRI and CT) revealed a fracture of a talocalcaneal coalition. To the knowledge of the authors no fracture of a coalition was reported so far. Conclusion This report highlights the presentation of symptomatic coalitions following trauma and furthermore, it points out the difficulties in the diagnosis and treatment of a rare entity after a common injury. A diagnostic algorithm has been developed to ensure not to miss a severe injury. PMID:23530869

Acute myeloid leukaemia diagnosed by intra-oral myeloid sarcoma. A case report.

PubMed

Papamanthos, Mattheos K; Kolokotronis, Alexandros E; Skulakis, Haralampos E; Fericean, Angela-Monika A; Zorba, Matina T; Matiakis, Apostolos T

2010-06-01

Myeloid sarcoma (MS) is a rare extramedullary malignant tumor composed of immature myeloid cells. It is strongly associated with a well known or covert acute myeloid leukaemia, chronic myeloproliferative diseases or myelodysplastic syndromes. Intraoral MS scarcely occurs. An unusual case of acute myeloid leukaemia, which was diagnosed by mandibular MS that was developed in the alveolar socket after a dental extraction, is reported. The histological examination (including immunohistochemical analysis) of a subsequent biopsy showed infiltration of the oral mucosa by neoplastic cells. This lesion was therefore classified as acute myeloid leukaemia. The patient was referred to oncologists that confirmed the initial diagnosis. The patient underwent chemotherapy and the mandibular tumor disappeared. Forty days later, a relapse of the disease, which appeared as a great-ulcerated lesion, was developed in the hard palate. Thirty days after the second chemotherapy had finished, a new intraoral tumor was developed in the vestibular maxillary gingiva. Review of the literature shows no report of intraoral relapse and particularly multiple relapse of a MS that involves the oral cavity. Even though MS is encountered infrequently in the oral cavity, it should be considered in the differential diagnosis of conditions (especially tumors) with a similar clinical appearance.

Acute Myeloid Leukaemia Diagnosed by Intra-Oral Myeloid Sarcoma. A Case Report

PubMed Central

Papamanthos, Mattheos K.; Skulakis, Haralampos E.; Fericean, Angela-Monika A.; Zorba, Matina T.; Matiakis, Apostolos T.

2010-01-01

Myeloid sarcoma (MS) is a rare extramedullary malignant tumor composed of immature myeloid cells. It is strongly associated with a well known or covert acute myeloid leukaemia, chronic myeloproliferative diseases or myelodysplastic syndromes. Intraoral MS scarcely occurs. An unusual case of acute myeloid leukaemia, which was diagnosed by mandibular MS that was developed in the alveolar socket after a dental extraction, is reported. The histological examination (including immunohistochemical analysis) of a subsequent biopsy showed infiltration of the oral mucosa by neoplastic cells. This lesion was therefore classified as acute myeloid leukaemia. The patient was referred to oncologists that confirmed the initial diagnosis. The patient underwent chemotherapy and the mandibular tumor disappeared. Forty days later, a relapse of the disease, which appeared as a great-ulcerated lesion, was developed in the hard palate. Thirty days after the second chemotherapy had finished, a new intraoral tumor was developed in the vestibular maxillary gingiva. Review of the literature shows no report of intraoral relapse and particularly multiple relapse of a MS that involves the oral cavity. Even though MS is encountered infrequently in the oral cavity, it should be considered in the differential diagnosis of conditions (especially tumors) with a similar clinical appearance. PMID:20512638

[Ectopic breast fibroadenoma. Case report].

PubMed

Senatore, G; Zanotti, S; Cambrini, P; Montroni, I; Pellegrini, A; Montanari, E; Santini, D; Taffurelli, M

2010-03-01

Among the rare anomalies of the breast development, polythelia is the most common, between 1% and 5% of women and men present supernumerary nipples. Polymastia, usually presenting as ectopic breast tissue without areola-nipple complex, is seen mostly along the milk line, extending from the axilla to the pubic region. Ectopic breast tissue is functionally analogous to mammary gland and it is subjected to the same alterations and diseases, whether benign or malignant, that affect normal breast tissue. We report the case of a 21 years-old female evaluated by the medical staff after founding a solid nodular mass by suspect axillary lymphadenopathy. Differential diagnosis with lymphoma is the major problem in these cases. The mass was removed and the intraoperative histological examination showed fibroadenoma in axillary supernumerary breast. Presence of ectopic breast tissue is a rare condition; development of benign mass or malignant degeneration is possible, but it is very unusual. In case of polymastia diagnosis is simple; in case of isolated nodule, without local inflammation or infection, there are greater difficulties. Ultrasonography is diagnostic in case of breast fibroadenoma, but it might be inadequate in ectopic localizations owing to the shortage of mammary tissue around the mass. Preoperative diagnosis is important to plan an adequate surgical treatment; lumpectomy is indicated in case of benign tissue; in case of malignancy, therapy is based on the standard treatment used for breast cancer (surgery, chemotherapy and radiation therapy).

[Uncommon neonatal case of hypoglycemia: ACTH resistance syndrome].

PubMed

Delmas, O; Marrec, C; Caietta, E; Simonin, G; Morel, Y; Girard, N; Roucher, F; Sarles, J; Chabrol, B; Reynaud, R

2014-12-01

Monitoring of blood glucose is usually reported to reduce the risk of hypoglycemia in term newborns with high risk factors and for prematurity in neonatal intensive care unit patients. Differential diagnosis has rarely been discussed. In the eutrophic term newborn, hypoglycemia remains rare and an etiological diagnosis must be made. Intensive management of neonatal hypoglycemia is required to prevent neurodevelopmental defects. Without evident cause or if hypoglycemia persists, a systematic review of possible causes should be made. We report isolated glucocorticoid deficiency diagnosed in an infant at 10 months of age. This boy had neonatal hypoglycemia and mild jaundice that had not been investigated. During his first 9 months of life, he presented frequent infections. At 10 months of age, febrile seizures occurred associated with shock, hypoglycemia, hyponatremia, mild hyperpigmentation, and coma. He was diagnosed with hypocortisolemia and elevated ACTH levels. Brain injury was revealed by MRI after resuscitation, with hypoxic-ischemic and hypoglycemic encephalopathy. The molecular studies demonstrated the presence of p.Asp107Asn and previously unreported frameshift p.Pro281GlnfsX9 MC2R gene mutations. A substitutive hormone therapy was provided and during a follow-up of 12 months no adrenal crisis was noted. We report an unusual case of familial glucocorticoid deficiency with severe neurological injury. This case demonstrates the importance of an appropriate etiological diagnosis in neonatal hypoglycemia. Copyright © 2014 Elsevier Masson SAS. All rights reserved.

Secondary Dystonia-Clinical Clues and Syndromic Associations

PubMed Central

Schneider, Susanne A; Bhatia, Kailash P

2009-01-01

Background: Dystonia is a hyperkinetic movement disorder defined by involuntary sustained muscle spasms and unusual postures. Etiologically, dystonic syndromes can be broadly divided into primary and secondary forms, dystonia-plus syndromes and heredodegenerative forms. In particular, diagnosis of secondary dystonic syndromes can be challenging in view of the variety of causes. Purpose: The purpose of this article is to highlight some clinical clues and syndromic associations as well as investigational findings which may be helpful in the approach to a patient with suspected secondary dystonia. Methods: We outline characteristic clinical and neuroimaging findings which may be directive in the diagnostic process of dystonia patients and facilitate making the correct diagnosis, thus allowing initiating the best treatment. Results: Secondary causes of dystonia include, among others, strategic brain lesions of various origins, metabolic disease, neurodegenerative conditions, and previous exposure to drugs or toxins. Presence of clinical signs including prominent oromandibular involvement, eye movement disorders, retinitis pigmentosa, deafness, peripheral neuropathy, parkinsonism or progressive dementia should alert the clinician to consider a secondary cause. Strategic lesions within the basal ganglia, but also within the brainstem, cerebellum or cortical areas may underlie dystonia and should thus be excluded. Conclusions: When thorough clinical examination reveals features atypical of primary dystonia, syndromic associations may help the clinician to narrow down the list of differential diagnosis. Directive investigations like neuroimaging may confirm the clinical suspicion. PMID:24868358

Multicentric Castleman's disease in human immunodeficiency virus infection: two case reports.

PubMed

Caroline Ribeiro Sales, Amanda; Romão de Souza Junior, Valter; Iglis de Oliveira, Marta; Azevedo Braga Albuquerque, Claudia; de Barros Campelo Júnior, Evônio; Sérgio Ramos de Araújo, Paulo

2018-05-05

Castleman's Disease is a rare B-cell lymphoproliferative disease. It is mostly benign and is characterized by non-neoplastic lymph node hypertrophy, associated with infection by human herpesvirus-8 in people with the human immunodeficiency virus/acquired immunodeficiency syndrome. Although the unicentric or localized form presents as benign, the multifocal form can manifest severe systemic symptoms. We report two unusual cases of men presenting cervical enlarged lymph nodes that were believed to be infectious. The first case is a 41-year-old feoderm man who presented to the Department of Infectious Diseases of the Hospital das Clínicas in May 2015, with irregular fever history (38-39 °C), dyspnea, weight loss (8 kg/1 year), and asthenia with increased cervical lymph nodes of 1-year duration. His immunohistochemical diagnosis presented Castleman's disease in plasmacytic/diffuse form. In the second case, a 35-year-old feoderm man presented at the same hospital with multiple cervical enlarged lymph nodes and histopathological evidence of Castleman's disease associated with human herpesvirus-8. Considering the importance of differential diagnosis of lymphoid disorders, Castleman's disease is a challenging diagnosis in people living with human immunodeficiency virus/acquired immunodeficiency syndrome and can be easily misdiagnosed when lymphoid disorders are present in the human immunodeficiency virus/acquired immunodeficiency syndrome population due to nonspecific symptoms and signs.

Dense Deposit Disease Mimicking a Renal Small Vessel Vasculitis

PubMed Central

Singh, Lavleen; Bhardwaj, Swati; Sinha, Aditi; Bagga, Arvind; Dinda, Amit

2016-01-01

Dense deposit disease is caused by fluid-phase dysregulation of the alternative complement pathway and frequently deviates from the classic membranoproliferative pattern of injury on light microscopy. Other patterns of injury described for dense deposit disease include mesangioproliferative, acute proliferative/exudative, and crescentic GN. Regardless of the histologic pattern, C3 glomerulopathy, which includes dense deposit disease and C3 GN, is defined by immunofluorescence intensity of C3c two or more orders of magnitude greater than any other immune reactant (on a 0–3 scale). Ultrastructural appearances distinguish dense deposit disease and C3 GN. Focal and segmental necrotizing glomerular lesions with crescents, mimicking a small vessel vasculitis such as ANCA-associated GN, are a very rare manifestation of dense deposit disease. We describe our experience with this unusual histologic presentation and distinct clinical course of dense deposit disease, discuss the pitfalls in diagnosis, examine differential diagnoses, and review the relevant literature. PMID:26361799

A case-report of a pulmonary tuberculosis with lymphadenopathy mimicking a lymphoma.

PubMed

Collu, Claudia; Fois, Alessandro; Crivelli, Paola; Tidore, Gianni; Fozza, Claudio; Sotgiu, Giovanni; Pirina, Pietro

2018-05-01

Clinical and radiological manifestations of tuberculosis (TB) are heterogeneous, and differential diagnosis can include both benign and malignant diseases (e.g., sarcoidosis, metastatic diseases, and lymphoma). Diagnostic dilemmas can delay appropriate therapy, favoring Mycobacterium tuberculosis transmission. We report on a case of TB in an immunocompetent, Somalian 22-year-old boy admitted in the respiratory unit of an Italian university hospital. His symptoms and clinical signs were thoracic pain, weight loss, latero-cervical, mediastinal, and abdominal lymphadenopathy. Smear microscopy and PCR were negative for Mycobacterium tuberculosis. The unclear histological pattern, the unusual clinical presentation, the CT scan signs, the BAL lymphocytes suggested the suspicion a lymphoma. Culture conversion proved Mycobacterium tuberculosis infection. This case report highlights the risk of misdiagnosis in patients with generalized lympho-adenopathy and pulmonary infiltrates, particularly in Africans young patients. Copyright © 2018. Published by Elsevier Ltd.

Single oral paracoccidioidomycosis mimicking other lesions: report of eight cases.

PubMed

de Oliveira Gondak, Rogério; Mariano, Fernanda Viviane; dos Santos Silva, Alan Roger; Vargas, Pablo Agustin; Lopes, Márcio Ajudarte

2012-01-01

Paracoccidioidomycosis is a fungal infection caused by Paracoccidioides brasiliensis. It is an endemic disease, representing a serious health problem in Latin American countries. This infection primarily affects the lungs and is acquired by inhalation of the fungus. It can spread to other organs and tissues, mainly the oral cavity affecting more adult men from 30 to 50 years of age. On clinical presentation, several signs associated with impaired general and nutritional conditions can be noted. Oral manifestation is more common in the soft palate, gingiva, lower lip, buccal mucosa, and tongue. The classical clinical presentation is a superficial ulcer with granular appearance and hemorrhagic points. Usually, the oral lesion is extensive and generalized. Although uncommon, when the oral manifestation is single, others lesions, particularly squamous cell carcinoma, must be included in the differential diagnosis. In this article, the authors discuss the unusual presentation of eight cases of single oral paracoccidioidomycosis and its diagnostic importance.

Cytomorphology of unusual infectious entities in the Pap test

PubMed Central

Khalbuss, Walid E.; Michelow, Pam; Benedict, Cynthia; Monaco, Sara E.; Pantanowitz, Liron

2012-01-01

Rare entities in the Pap test, including neoplastic and non-neoplastic conditions, pose challenges due to their infrequent occurrence in the daily practice of cytology. Furthermore, these conditions give rise to important diagnostic pitfalls. Infections such as tuberculosis cervicitis may be erroneously diagnosed as carcinoma, whereas others, such as schistosomiasis, are associated with squamous cell carcinoma. These cases include granuloma inguinale (donovanosis), tuberculosis, coccidioidomycosis, schistosomiasis, taeniasis, and molluscum contagiosum diagnosed in Pap tests. Granuloma inguinale shows histiocytes that contain intracytoplasmic bacteria (Donovan bodies). Tuberculosis is characterized by necrotizing granulomatous inflammation with Langhans-multinucleated giant cells. Coccidioidomycosis may show large intact or ruptured fungal spherules associated with endospores. Schistosoma haematobium is diagnosed by finding characteristic ova with a terminal spine. Molluscum contagiosum is characterized by the appearance of squamous cells with molluscum bodies. This article reviews the cytomorphology of selected rare infections and focuses on their cytomorphology, differential diagnosis, and role of ancillary diagnostic studies. PMID:22919422

Inflammatory myopathy as the initial presentation of cryoglobulinaemic vasculitis

PubMed Central

Rodríguez-Pérez, Noelia; Rodríguez-Navedo, Yerania; Font, Yvonne M; Vilá, Luis M

2013-01-01

Cryoglobulinaemic vasculitis is characterised by immunoglobulin deposition at low temperatures. The most common manifestations are cutaneous involvement, arthralgias, Raynaud's phenomenon, peripheral neuropathy and renal disease. Myopathy is unusual and only a few cases have been reported. Here, we present a 31-year-old woman who developed progressive muscle weakness involving upper and lower extremities, dysphagia, paraesthesias and palpable purpura. Diagnostic studies revealed elevated creatine kinase, diffuse myopathic and sensorimotor axonal neuropathy on electromyography and nerve conduction studies, and inflammatory myopathy on muscle biospsy. Cryoglobulin levels were elevated on two occasions. She responded favourably to cyclophosphamide and high-dose corticosteroids. Cyclophosphamide was continued for 1 year followed by methotrexate. Prednisone was gradually tapered and discontinued 1 year later. She remained in clinical remission after 4 years of follow-up. This case suggests that cryoglobulinaemia should be considered in the differential diagnosis of a patient presenting with inflammatory myopathy. PMID:23737595

Inflammatory myopathy as the initial presentation of cryoglobulinaemic vasculitis.

PubMed

Rodríguez-Pérez, Noelia; Rodríguez-Navedo, Yerania; Font, Yvonne M; Vilá, Luis M

2013-06-03

Cryoglobulinaemic vasculitis is characterised by immunoglobulin deposition at low temperatures. The most common manifestations are cutaneous involvement, arthralgias, Raynaud's phenomenon, peripheral neuropathy and renal disease. Myopathy is unusual and only a few cases have been reported. Here, we present a 31-year-old woman who developed progressive muscle weakness involving upper and lower extremities, dysphagia, paraesthesias and palpable purpura. Diagnostic studies revealed elevated creatine kinase, diffuse myopathic and sensorimotor axonal neuropathy on electromyography and nerve conduction studies, and inflammatory myopathy on muscle biospsy. Cryoglobulin levels were elevated on two occasions. She responded favourably to cyclophosphamide and high-dose corticosteroids. Cyclophosphamide was continued for 1 year followed by methotrexate. Prednisone was gradually tapered and discontinued 1 year later. She remained in clinical remission after 4 years of follow-up. This case suggests that cryoglobulinaemia should be considered in the differential diagnosis of a patient presenting with inflammatory myopathy.

Small cell sweat gland carcinoma of childhood

PubMed Central

Drut, R; Giménez, O P; Oliva, J

2005-01-01

Small cell sweat gland carcinoma appears to represent a very unusual histological type of sweat gland anlage tumour presenting in children. The differential diagnosis from other small blue cell tumours involving the skin is often difficult. The present report confirms the original observation describing two patients of 2 and 5 years of age harbouring cutaneous tumours. The histology of these lesions showed a monomorphic proliferation of small cells with a high mitotic rate and areas of necrosis. Immunohistochemically, the cells were negative for desmin, cytokeratin 7, cytokeratin 20, Cam 5.2, CD99, chromogranin, CD56, synaptophysin, and S-100, and focally positive for the pancytokeratin marker AE1/AE3, carcinoembryonic antigen (one case), and neurone specific enolase (one case). The prognosis of this type of tumour seems to be good. As more cases are added, the clinical pathological spectrum of the lesion will become better defined. PMID:16311358

[Fatal complications by air embolism in legal interruption of pregnancy].

PubMed

Du Chesne, A

1974-12-13

Fatal air embolism as a complication of legal abortion in a 29-year-old woman is reported. After anesthesia had been induced and dilatation accomplished (Hegar 14), the suction tube was introduced into the uterus. The surgeon felt unusually heavy pressure when the pump was started, and heavy bleeding was observed. Aspiration was discontinued, and the abortion was completed by curettage. Irregular breathing and cardiovascular collapse occurred 4 minutes after the start of the operation, and resuscitation attempts were unsuccessful. Autopsy revealed pulmonary edema, pulmonary emphysema, and air bubbles in many areas of the vascular system, which confirmed the clinical diagnosis of air embolism. The hose of the suction cannula was found to have been attached to the exhaust outlet of the suction pump. It is suggested that the exhaust should be clearly differentiated from the intake valve in order to avoid similar accidents in the future.

Bilateral Macular Edema: A New Ocular Feature of Dandy-Walker Syndrome.

PubMed

Tranos, P; Dervenis, N; Kiouras, S

2017-01-01

To describe a case of bilateral cystoid macular edema in a patient with Dandy-Walker syndrome. An 18-year-old male was referred to our tertiary referral center for evaluation of his decreased visual acuity. Detailed ophthalmic examination and imaging revealed the presence of bilateral cystoid macular edema, which was successfully treated with intravitreal triamcinolone injections (2 mg in 0.05 ml). Recurrence of macular edema developed after a period of approximately four months. This is an unusual ophthalmic manifestation of Dandy-Walker syndrome. Cystoid macular edema should be included in the differential diagnosis of subjects with Dandy-Walker syndrome presenting with decreased vision. The pathogenetic mechanism for the development macular edema in this case is not clear. Intravitreal triamcinolone is an effective treatment, but edema was recurrent in our case. Other approaches (such as oral Acetazolamide or intravitreal Anti-VEGF) have to be considered as well.

Undiagnosed phaeochromocytoma mimicking severe preeclampsia in a pregnant woman at term.

PubMed

Hudsmith, J G; Thomas, C E; Browne, D A

2006-07-01

We report an unusual case of phaeochromocytoma in pregnancy. The patient presented with severe hypertension, visual disturbances, proteinuria, glycosuria and pulmonary oedema at 38 weeks' gestation. The initial diagnosis was severe preeclampsia, but rapid deterioration of the fetus necessitated an emergency caesarean section under general anaesthesia, following which the maternal condition deteriorated rapidly. Differential diagnoses included pulmonary embolus, cardiomyopathy, amniotic fluid embolus and ischaemic/embolic cerebrovascular accident. Despite aggressive maximal treatment, mother and baby died 36 h later. Post mortem examination of the mother revealed a 5.5-cm tumour of the right adrenal gland confirmed histologically as a phaeochromocytoma. We examine the diagnostic dilemmas of this case and consider the treatment and management options when faced with a critically ill mother and the need to deliver her fetus by emergency caesarean section. We also question the clinical priorities during management of a sudden deterioration in both maternal and fetal health.

An unusual exostotic lesion of the maxillary sinus from Roman Lincoln.

PubMed

Kendall, Ross; Kendall, Ellen J; Macleod, Iain; Gowland, Rebecca; Beaumont, Julia

2015-12-01

This report provides a differential diagnosis of an exostotic bony lesion within the left maxillary sinus of a Romano-British (3rd to 4th century AD) adult male from Newport, Lincoln. Macroscopic, radiographic, and cone beam computed tomography (CBCT) analyses suggest that the lesion is likely of odontogenic origin. The overall size of the lesion and areas of sclerosis and radiolucency, together with its hypothesised odontogenic origin, suggest that the lesion represents a chronic exostotic osteomyelitic reaction to the presence of odontogenic bacteria. While modern case studies of odontogenic maxillary sinus osteomyelitis are noteworthy, published cases of this condition are extremely rare in an archaeological context and may be underreported due to the enclosed nature of the sinuses. Such infections may have serious implications for individual and population health, and non-destructive investigation should be considered in cases where significant maxillary caries are present. Copyright © 2015 Elsevier Inc. All rights reserved.

Subarachnoid Hemorrhage due to Spinal Cord Schwannoma Presenting Findings Mimicking Meningitis.

PubMed

Zhang, Hong-Mei; Zhang, Yin-Xi; Zhang, Qing; Song, Shui-Jiang; Liu, Zhi-Rong

2016-08-01

Subarachnoid hemorrhage (SAH) of spinal origin is uncommon in clinical practice, and spinal schwannomas associated with SAH are even more rarely reported. We report an unusual case of spinal SAH mimicking meningitis with normal brain computed tomography (CT)/magnetic resonance imaging (MRI) and negative CT angiography. Cerebrospinal fluid examination results were consistent with the manifestation of SAH. Spinal MRI performed subsequently showed an intradural extramedullary mass. The patient received surgery and was finally diagnosed with spinal cord schwannoma. A retrospective chart review of the patient was performed. We describe a case of SAH due to spinal cord schwannoma. Our case highlights the importance of careful history taking and complete evaluation. We emphasize that spinal causes should always be ruled out in patients with angionegative SAH and that schwannoma should be considered in the differential diagnosis of SAH etiologies even though rare. Copyright © 2016 National Stroke Association. Published by Elsevier Inc. All rights reserved.

An unusual case of generalized severe gingival enlargement during pregnancy.

PubMed

McIntosh, Crystal L; Kolhatkar, Shilpa; Winkler, James R; Ojha, Junu; Bhola, Monish

2010-01-01

Increased hormone levels that are present during puberty and pregnancy are associated with localized or generalized gingival enlargement. This article reviews the gingival alterations that can occur during pregnancy and describes a case of generalized severe gingival enlargement associated with pregnancy and its management. A 36-year-old woman had severe bilateral gingival enlargement of short duration. The patient denied taking any medications. The laboratory report revealed no systemic abnormalities; however, the report disclosed that she was pregnant. Surgical therapy for the gingival enlargement included gingivectomy and gingivoplasty of all quadrants, which reduced the size of the enlarged gingiva. Postoperative visits demonstrated uneventful healing, with no recurrence seen at the one-year follow-up appointment. It appears that the English literature includes only one other case report that discusses generalized gingival enlargement during pregnancy. Pregnancy-related gingival enlargement should be included as a differential diagnosis in women who have non-drug-induced generalized gingival enlargement.

Metastatic Renal Cell Carcinoma to the Pancreas: A Review.

PubMed

Cheng, Shaun Kian Hong; Chuah, Khoon Leong

2016-06-01

The pancreas is an unusual site for tumor metastasis, accounting for only 2% to 5% of all malignancies affecting the pancreas. The more common metastases affecting the pancreas include renal cell carcinomas, melanomas, colorectal carcinomas, breast carcinomas, and sarcomas. Although pancreatic involvement by nonrenal malignancies indicates widespread systemic disease, metastatic renal cell carcinoma to the pancreas often represents an isolated event and is thus amenable to surgical resection, which is associated with long-term survival. As such, it is important to accurately diagnose pancreatic involvement by metastatic renal cell carcinoma on histology, especially given that renal cell carcinoma metastasis may manifest more than a decade after its initial presentation and diagnosis. In this review, we discuss the clinicopathologic findings of isolated renal cell carcinoma metastases of the pancreas, with special emphasis on separating metastatic renal cell carcinoma and its various differential diagnoses in the pancreas.

Brain tumor presenting as somnambulism in an adolescent.

PubMed

Prashad, Priya S; Marcus, Carole L; Brown, Lawrence W; Dlugos, Dennis J; Feygin, Tamara; Harding, Brian N; Heuer, Gregory G; Mason, Thornton B Alexander

2013-09-01

Sleepwalking is typically a benign and self-limited non-rapid eye movement parasomnia of childhood. We describe an unusual 15-year-old boy referred to our sleep center for new-onset sleepwalking. An overnight polysomnogram was normal from a respiratory standpoint, but a concurrent extended electroencephalogram montage showed frequent epileptiform discharges from the right parietal-temporal region and two electroclinical seizures arising from the right-frontal-central-temporal region during sleep. Magnetic resonance imaging scan revealed a right parasagittal parietal region lesion consistent with a low-grade neoplasm, and surgical resection of the lesion demonstrated a right parietal dysembryoplastic neuroepithelial tumor. Complex partial seizures and sleepwalking remitted completely with anticonvulsant therapy following surgery. This patient highlights the differential diagnosis of nocturnal events appearing to be typical parasomnias, especially when they arise abruptly at an older age. Copyright © 2013 Elsevier Inc. All rights reserved.

Giant, Completely Calcified Lumbar Juxtafacet Cyst: Report of an Unusual Case

PubMed Central

Huang, Kevin T.; Owens, Timothy R.; Wang, Teresa S.; Moreno, Jessica R.; Bagley, Jacob H.; Bagley, Carlos A.

2013-01-01

Study Design Case report. Objective To report the case of one patient who developed a giant, completely calcified, juxtafacet cyst. Methods A 57-year-old woman presented with a 2-year history of progressively worsening lower back pain, left leg pain, weakness, and paresthesias. Imaging showed a giant, completely calcified mass arising from the left L5–S1 facet joint, with coexisting grade I L5 on S1 anterolisthesis. The patient was treated with laminectomy, excision of the mass, and L5–S1 fixation and fusion. Results The patient had an uncomplicated postoperative course and had complete resolution of her symptoms as of 1-year follow-up. Conclusions When presented with a solid-appearing, calcified mass arising from the facet joint, a completely calcified juxtafacet cyst should be considered as part of the differential diagnosis. PMID:25083359

Premature extravasation. A bleeding site identified during the dynamic phase of Tc-99m red blood cell bleeding scintigraphy.

PubMed

el-Shirbiny, A; Fernandez, R; Zuckier, L S

1995-08-01

Tc-99m RBC scintigraphy is favored by many investigators because it provides the ability to image the abdomen over a prolonged period of time, thereby allowing identification of delayed bleeding sites that are frequently encountered due to the intermittent nature of gastrointestinal bleeding. The authors describe a case of bleeding scintigraphy with labeled red blood cells in which the bleeding site was identifiable only on the dynamic blood-flow and first static images. On later images, the labeled blood cells had spread throughout the colon, rendering localization of the actual bleeding site impossible. Two previous red blood cell scintigraphies and a subsequent contrast angiogram did not reveal sites of active bleeding. As illustrated by this unusual case, factors governing timing and visualization of abnormal bleeding sites are discussed, as is a differential diagnosis of abnormal foci of activity seen on the dynamic phase of bleeding scintigraphy.

Mature cystic teratoma with high proportion of solid thyroid tissue: a controversial case with unusual imaging findings.

PubMed

Gil, Rui; Cunha, Teresa Margarida; Rolim, Ines

2017-07-01

We describe a case of a mature cystic teratoma of the ovary with high proportion of solid thyroid tissue (< 50% of the entire tumor) in a childbearing woman. The patient presented with non-specific abdominal bloating. Pelvic ultrasound and magnetic resonance imaging revealed a complex cystic-solid tumor confined to the left ovary with an anterior fat-containing locus compatible with mature cystic teratoma and a posterior predominantly solid component with low signal intensity on T2-weighted images that was histopatologically diagnosed as benign thyroid tissue. Thyroglobulin levels were in normal range. Although thyroid tissue is present in up to 20% of mature cystic teratomas, with exception of struma ovarii, it is not usually macroscopically nor radiologically identified. The differential diagnosis should include T2-hypointense adnexal lesions associated with mature cystic teratoma, malignant transformation of mature teratoma, and immature teratoma.

Joint hypermobility and headache: understanding the glue that binds the two together--part 1.

PubMed

Neilson, Derek; Martin, Vincent T

2014-09-01

Heritable connective tissue disorders (HCTD) present with a wide array of findings, including headache. Because of their unusual substrate, headaches in HCTD can derive from both common and uncommon circumstances. Literature review. Ehlers-Danlos hypermobile type can be recognized by multiple joint findings and its tendency to progress to a multisystem chronic pain syndrome. Ehlers-Danlos classic type also manifests joint laxity and similar pain complaints, but is differentiated by its skin laxity and fragility. Ehlers-Danlos vascular type presents the most severe risk due to blood vessel and hollow organ rupture. Marfan syndrome demonstrates skeletal abnormalities, lens dislocations, and aortic root dilation that can result in dissection. In a headache patient, recognizing the presence of an HCTD improves the strategy for diagnosis and management. A brief review of findings related to joints, skin, and arteries may prompt further investigation into the HCTDs. © 2014 American Headache Society.

Unilateral proptosis as the initial manifestation of malignancy.

PubMed

Rakul Nambiar, K; Ajith, P S; Arjunan, Asha

2017-09-01

Proptosis, a common sign with a broad differential diagnosis, is defined as anterior displacement and protrusion of one or both orbital globes. Patients can present with varying degrees of chronicity, visual loss and associated symptoms. The etiology of acquired unilateral proptosis is diverse, ranging from benign to life-threatening. The causes of unilateral proptosis include traumatic, vascular, endocrine, inflammatory, infective and malignant. Breast carcinoma is the most common metastatic cause of proptosis; however, proptosis has never been reported as the initial manifestation of breast carcinoma. Our patient presented with unilateral proptosis secondary to an intraorbital lesion and histopathology of orbital lesion was suggestive of metastatic breast adenocarcinoma. She was later diagnosed to have primary breast carcinoma. We present this unusual case of a 56-year-old woman who presented with proptosis as the initial manifestation of a metastatic breast malignancy. Copyright © 2017 National Cancer Institute, Cairo University. Production and hosting by Elsevier B.V. All rights reserved.

Munchausen's Syndrome and Other Factitious Disorders in Children

PubMed Central

Jaghab, Kamil; Skodnek, Kenneth B.

2006-01-01

There has been increasing recognition in the pediatric literature for the past 20 years that illness falsification by caregivers must be included in the differential diagnosis of children presenting with persistent, unexplained symptoms or laboratory findings. However, there is considerably less awareness that pediatric symptoms can also be intentionally falsified by child and adolescent patients, and this unique group has remained virtually invisible. There have been reports that many children with factitious disorders also suffer from other mental disorders, particularly personality disorders. We report an unusual case of Munchausen's syndrome in a 15-year-old patient with sickle cell disease. We also review other reported pediatric factitious disorders in literature. Our purpose is to make clinicians aware of this less known disorder in children and to discuss the similarities and differences these disorders have in children compared to adults with the same disorders. PMID:21103164

An unusual case showing fatal rupture of a gastric ulcer or gastromalacia? The importance/role of histology for differential diagnosis.

PubMed

De-Giorgio, Fabio; Lodise, Maria; Pascali, Vincenzo L; Spagnolo, Antonio G; d'Aloja, Ernesto; Arena, Vincenzo

2015-01-01

Gastromalacia is the acute autolytic erosion of the gastric wall. It generally occurs postmortem, and it appears as a slimy brownish black region of the wall which occurs principally in the gastric fundus. A 59-year-old woman died in the Emergency Department following a 2-day period of mild abdominal pain, vomiting, and diarrhea. A forensic autopsy was performed which revealed a rupture of the gastric fundus that had caused leakage of gastric content into the abdominal cavity. There was no macroscopic evidence of peritonitis, and the stomach wall adjacent to the rupture site showed marked thinning. The gross appearance was typical of gastromalacia. In contrast, histological observations revealed the presence of an ulcer at the site of perforation and a severe acute inflammatory reaction indicating a robust reaction with an antemortem rupture. © 2014 American Academy of Forensic Sciences.

The value of electrocardiography for differential diagnosis in wide QRS complex tachycardia.

PubMed

Sousa, Pedro A; Pereira, Salomé; Candeias, Rui; de Jesus, Ilídio

2014-03-01

Correct diagnosis in wide QRS complex tachycardia remains a challenge. Differential diagnosis between ventricular and supraventricular tachycardia has important therapeutic and prognostic implications, and although data from clinical history and physical examination may suggest a particular origin, it is the 12-lead surface electrocardiogram that usually enables this differentiation. Since 1978, various electrocardiographic criteria have been proposed for the differential diagnosis of wide complex tachycardias, particularly the presence of atrioventricular dissociation, and the axis, duration and morphology of QRS complexes. Despite the wide variety of criteria, diagnosis is still often difficult, and errors can have serious consequences. To reduce such errors, several differential diagnosis algorithms have been proposed since 1991. However, in a small percentage of wide QRS tachycardias the diagnosis remains uncertain and in these the wisest decision is to treat them as ventricular tachycardias. The authors' objective was to review the main electrocardiographic criteria and differential diagnosis algorithms of wide QRS tachycardia. Copyright © 2012 Sociedade Portuguesa de Cardiologia. Published by Elsevier España. All rights reserved.

Sporotrichosis as an unusual case of osteomyelitis: A case report and review of the literature.

PubMed

Lederer, Henry T; Sullivan, Eva; Crum-Cianflone, Nancy F

2016-03-01

Sporotrichosis is an infection of worldwide distribution caused by the dimorphic fungus, Sporothrix schenckii. Acquisition typically occurs via cutaneous inoculation with development of a localized cutaneous and/or lymphocutaneous infection. We present a rare case of osteoarticular sporotrichosis in a 39-year-old man and review the literature noting only 20 published cases since 1980. Recommendations on the diagnosis and management of this unusual infection are provided.

Cystic echinococcosis: A neglected disease at usual and unusual locations.

PubMed

Sarkar, Soma; Roy, Himansu; Saha, Puranjay; Sengupta, Mallika; Sarder, Krisnendu; Sengupta, Manideepa

2017-01-01

Echinococcus granulosus causes a zoonotic infection called cystic echinococcosis (CE) or more commonly known as hydatid disease. Although the two most common locations of hydatid cyst are liver and lung, it may also appear in other parts of the body. Clinical presentation of the hydatid disease depends on the site and size of the lesion. A retrospective study was done in Medical College and Hospital, Kolkata, from January 2012 to June 2014, to find the site of involvement, distribution, clinical features, history of contact, mode of presentation, laboratory diagnosis, and treatment modalities of the cases of hydatid cyst. The cases were identified by radiological and laboratory methods, the data were entered in Excel spreadsheet, and analysis was done. Among the 21 cases of hydatid cyst included in the study, solitary hepatic involvement was seen in 11 (52.38%), pulmonary involvement in 4 (19%), and 6 (28.71%) were in unusual locations such as liver cyst extending as retroperitoneal, omental cyst, choledochal cyst, splenic cyst, and in hepatorenal pouch. History of contact with dog was seen in 15 (71.43%). All the patients were treated with surgery and albendazole and were discharged in healthy condition. CE may be present in usual and unusual locations with a lot of variations in the clinical features. Hence, proper radiological and laboratory diagnosis is required for accurate diagnosis and appropriate management of these cases.

[Tuberculous gumma or metastatic tuberculous abscess as initial diagnosis of tuberculosis in an immunocompetent patient: an unusual presentation].

PubMed

Marco, A; Solé, R; Raguer, E; Aranda, M

2014-01-01

Tuberculous cold abscesses or gumma are an unusual form of tuberculosis. We report a case of gumma as initial diagnosis of disseminated tuberculosis. This case was studied in 2012 in Barcelona ( Spain). Source data was compiled from the electronic clinical records, hospital reports and additional diagnostic testing. Immunocompetent inmate, born in Cape Verde, living in Spain since the age of four. Positive tuberculin skin test. Initial examination without interest, but a palpable mass in lower back. Fine needle aspiration of the abscess was positive (PCR and Lowenstein) for M. tuberculosis. Computed tomography showed lung cavitary nodes in apical part and lung upper right side. After respiratory isolation, antituberculous therapy and an excellent evolution, the patient was discharged from hospital with disseminated tuberculosis diagnosis. It is advisable to monitor the injuries since, although rare, it may be secondary to Mycobacterium tuberculosis infection, mainly in inmuno-compromised populations and in immigrants coming from hyper-endemic tuberculosis areas.

Hypercalcemic crisis: a clinical review.

PubMed

Ahmad, Shazia; Kuraganti, Gayatri; Steenkamp, Devin

2015-03-01

Hypercalcemia is a common metabolic perturbation. However, hypercalcemic crisis is an unusual endocrine emergency, with little clinical scientific data to support therapeutic strategy. We review the relevant scientific English literature on the topic and review current management strategies after conducting a PubMed, MEDLINE, and Google Scholar search for articles published between 1930 and June 2014 using specific keywords: "hypercalcemic crisis," "hyperparathyroid crisis," "parathyroid storm," "severe primary hyperparathyroidism," "acute hyperparathyroidism," and "severe hypercalcemia" for articles pertaining to the diagnosis, epidemiology, clinical presentation, and treatment strategies. Despite extensive clinical experience, large and well-designed clinical studies to direct appropriate clinical care are lacking. Nonetheless, morbidity and mortality rates have substantially decreased since early series reported almost universal fatality. Improved outcomes can be attributed to modern diagnostic capabilities, leading to earlier diagnosis, along with the recognition that primary hyperparathyroidism is the most common etiology for hypercalcemic crisis. Hypercalcemic crisis is an unusual endocrine emergency that portends excellent outcomes if rapid diagnosis, medical treatment, and definitive surgical treatment are expedited. Copyright © 2015 Elsevier Inc. All rights reserved.

[Severe hyperlipidemia, secondary to hypothyroidism due to atrophic thyroiditis in a girl].

PubMed

Pacín, Mirta

2009-02-01

We present a 5 years 8 months old girl with severe hyperlipidemia (high total cholesterol, and low density lipoprotein values, and also, ectopic fat pericardial deposit). She was treated with diet and cholestyramine, without diagnosis of her disease etiology. Growth detention, weight loss, retarded bone age and clinical signs of hypometabolism were recorded. Thyroid profile confirms hypothyroidism diagnosis. Based on positive anti-thyroid antibodies and clearly reduced thyroid volume, a diagnosis of autoimmune atrophic thyroiditis was made, a very unusual pathology in early infancy. Linear growth was affected by late diagnosis.

Gastric lipoma presenting as a giant bulging mass in an oligosymptomatic patient: a case report

PubMed Central

2012-01-01

Introduction Lipomas of the gastrointestinal tract are a rare condition. Only 5% are of gastric origin, and this corresponds to 2% to 3% of all benign tumors of the stomach and less than 1% of all gastric neoplasms. It is our purpose to report an unusual presentation of a giant gastric lipoma in an oligosymptomatic patient and highlight the importance of discussing differential diagnosis in this situation. A review of the literature has shown that this is one of the largest gastric lipomas described. Case presentation We describe a rare case of a benign gastric tumor with uncommon features in a 63-year-old Caucasian woman. She was admitted with abdominal discomfort, nausea, and upper abdominal fullness after eating. The lesion was suspicious of malignancy because of its dimension and central contrast enhancement on computed tomography. Conventional upper digestive endoscopy revealed a large bulging mass in the gastric posterior wall and three ulcerated areas. In this procedure, a technical limitation due to the location of the mass in the submucosa prevented an adequate biopsy from being obtained. The fragments obtained from the ulcers revealed nothing but necrotic mucosa. Our patient underwent a subtotal gastrectomy and D1 lymphadenectomy with a Roux-en-Y reconstruction. Macroscopic findings revealed a 12 × 8 × 6cm mass with a volume of 576cm3, and the histological pattern demonstrated well-differentiated mature adipose tissue surrounded by a fibrous capsule, confirming the diagnosis of gastric submucosal lipoma. Conclusions Gastric lipoma is a rare benign disease that eventually simulates a malignant tumor. PMID:23006791

Immunohistochemical features of giant cell ependymoma of the filum terminale with unusual clinical and radiological presentation.

PubMed

Candanedo-Gonzalez, Fernando; Ortiz-Arce, Cindy Sharon; Rosales-Perez, Samuel; Remirez-Castellanos, Ana Lilia; Cordova-Uscanga, Candelaria; Gamboa-Dominguez, Armando

2017-01-14

Giant cell ependymoma of the filum terminale is a rare variant, generally manifested as a well-circunscribed intradural mass with an indolent biological behavior. We describe the case of a 48-year-old Mexican female who non-relevant past medical history, that developed a GCE of the filum terminale. Magnetic resonance imaging and computed tomography revealed the presence of an intra-axial tumor extending from L3 to L5 with extra-medullary invasion. Therefore the tumor was considered unresectable and only incisional biopsy was obtained, establishing the tentative diagnosis of a poorly differentiated neoplasia. A second evaluation of the case revealed the presence of numerous non-cohesive pleomorphic giant cells with intranuclear inclusions and broad eosinophilic cytoplasm, alternating with intermediate size cells with round, hyperchromatic nuclei and forming a perivascular pseudo-rosettes pattern. The ependymal phenotype was supported by light microscopy and corroborated by immunohistochemistry analysis. The patient was subsequently treated with radiotherapy 54Gy. She is alive after a 27-month follow-up, with residual disease, difficulty ambulating and pain. GCE of filum terminale may have an atypical clinical and radiological presentation, albeit with invasive characteristics and anaplasia on histologic analysis. However, its biological behavior is indolent and associated to longer survival. Due to the presence of giant cells, the differential diagnosis of other primary neoplasias at that site were considered, including paraganglioma, malignant peripheral nerve sheath tumors as well as metastatic malignant melanoma, adrenal carcinoma, thyroid gland carcinoma and urothelial carcinoma, that may all harbor giant cells.

Lesões vesiculares e prurido intenso em paciente com sífilis secundária:manifestação clínica atípica.

PubMed

Duarte Bezerra Pinto, Roberta; Rubim Bellott Batista Nascimento, Thiago; Pacheco Bicalho de Andrade, Jhéssica; Policarpo, Fernanda; Ribeiro Estrella, Rogério; Guedes Vilar, Enoi

2016-06-15

Syphilis is an infectious disease with mucocutaneous lesions that are characteristic of their stage (primary, secondary, or tertiary). These are not always typical and may have other morphologies and unusual symptoms, making diagnosis difficult. The report herein is of a healthy woman with vesicular lesions associated with intense itching.  The diagnosis of secondary syphilis was confirmed with VDRL 1/512 and FTA Abs positive.  Histopathology showed spongiosis in the epidermis and infiltrated lymphocytes and plasma cell in the dermis.  Clinical improvement occurred after the first dose of benzathine penicillin. In the literature, few cases of vesicular lesions in syphilis have been found and itching is mentioned as uncharacteristic . Histology showing spongiosis is also unusual.

Fibrous dysplasia: an unusual case of a very aggressive form with costo-vertebral joint destruction and invasion of the contralateral D7 vertebral body.

PubMed

Zoccali, Carmine; Attala, Dario; Rossi, Barbara; Zoccali, Giovanni; Ferraresi, Virginia

2018-05-23

Fibrous dysplasia (FD) is a benign fibro-osseous disease of the bone that may be solitary or multicentric. It is important to distinguish this type of lesion from low-grade osteosarcomas (LGOS) and from secondary sarcomas, because malignant transformation has rarely been reported. It is classically described as having a ground-glass appearance, endosteal scalloping, and thinning of the cortex. Cortical disruption is considered evidence of malignancy, but it can also be present in benign FD with aggressive behavior. We present an unusual case of aggressive FD of the 7th left rib, already diagnosed more than 22 years ago, where cortical and costo-vertebral joint disruption and 7th thoracic vertebral body involvement were not evidence of malignant behavior. From a histological perspective, FD and LGOS are similar; even if histology is of fundamental importance, the diagnosis has to be made based on the clinical and radiological aspects as well, although at imaging, differentiation between FD and LGOS can be difficult. In the present case, even though the histological examination suggested a benign lesion, the radiological examination instead consistently suggests malignancy. It is for this reason that there should be a high index of suspicion during follow-up and a new biopsy should be scheduled in case any changes occur during follow-up.

Achondroplasia with 47, XXY karyotype: a case report of the neonatal diagnosis of an extremely unusual association.

PubMed

Ros-Pérez, Purificación; Regidor, Francisco J; Colino, Esmeralda; Martínez-Payo, Cristina; Barroso, Eva; Heath, Karen E

2012-06-29

The association of achondroplasia and Klinefelter syndrome is extremely rare. To date, five cases have been previously reported, all of them diagnosed beyond the postnatal period, and only one was molecularly characterized. We describe the first case of this unusual association diagnosed in the neonatal period, the clinical findings and the molecular studies undertaken. The boy was born at term with clinical and radiological features indicating the diagnosis of achondroplasia or hypochondroplasia combined with the prenatal karyotype of Klinefelter syndrome (47,XXY). Neonatal FGFR3 mutation screening showed that the newborn was heterozygous for the classic achondroplasia G340R mutation. Microsatellite marker analysis showed that the sex chromosome aneuploidy had arisen from a non-disjunction error in paternal meiosis I, with a recombination event in the pseudoautosomal region 1 (PAR1). Specific mutation analysis is appropriate to confirm the clinical diagnosis of achondroplasia for appropriate diagnosis, prognosis, and genetic counseling, especially when the karyotype does not explain the abnormal prenatal sonographic findings. In the present case, a recombination event was observed in the PAR1 region, although recombinational events in paternally derived Klinefelter syndrome cases are much rarer than expected.

Achondroplasia with 47, xxy karyotype: a case report of the neonatal diagnosis of an extremely unusual association

PubMed Central

2012-01-01

Background The association of achondroplasia and Klinefelter syndrome is extremely rare. To date, five cases have been previously reported, all of them diagnosed beyond the postnatal period, and only one was molecularly characterized. We describe the first case of this unusual association diagnosed in the neonatal period, the clinical findings and the molecular studies undertaken. Case presentation The boy was born at term with clinical and radiological features indicating the diagnosis of achondroplasia or hypochondroplasia combined with the prenatal karyotype of Klinefelter syndrome (47,XXY). Neonatal FGFR3 mutation screening showed that the newborn was heterozygous for the classic achondroplasia G340R mutation. Microsatellite marker analysis showed that the sex chromosome aneuploidy had arisen from a non-disjunction error in paternal meiosis I, with a recombination event in the pseudoautosomal region 1 (PAR1). Conclusion Specific mutation analysis is appropriate to confirm the clinical diagnosis of achondroplasia for appropriate diagnosis, prognosis, and genetic counseling, especially when the karyotype does not explain the abnormal prenatal sonographic findings. In the present case, a recombination event was observed in the PAR1 region, although recombinational events in paternally derived Klinefelter syndrome cases are much rarer than expected. PMID:22747519

Chemotaxonomic differentiation of legionellae by detection and characterization of aminodideoxyhexoses and other unique sugars using gas chromatography-mass spectrometry.

PubMed Central

Fox, A; Rogers, J C; Fox, K F; Schnitzer, G; Morgan, S L; Brown, A; Aono, R

1990-01-01

Legionellae have been differentiated previously by analyzing their carbohydrate contents by gas chromatography with flame ionization detection. In the present study, total ion mode gas chromatography-mass spectrometry (GC-MS) was used to detect a number of unusual sugars, including one that is structurally related to O-methyldideoxyheptoses. Increased sensitivity and selectivity for carbohydrate detection was achieved by selected ion-monitoring GC-MS. Two of the uncommon sugars previously discovered in the legionellae (X1 and X2) were identified as quinovosamine and fucosamine, respectively. Legionella pneumophila contained rhamnose and quinovosamine but not the quinovosamine isomer fucosamine. Tatlockia micdadei and Legionella maceachernii contained large amounts of rhamnose, fucose, and fucosamine but not quinovosamine. These two species were the only legionellae studied that contained another unusual sugar that is referred to as X3, pending determination of its structure. Fluoribacter dumoffi, Fluoribacter bozemanae, and Legionella anisa were varied in their carbohydrate contents, both within and between species, but could be distinguished from L. pneumophila and the T. micdadei and L. maceachernii group. Fluoribacter gormanii was unique among the legionellae in that it lacked both quinovosamine and fucosamine. Legionella jordanis contained other unusual carbohydrates in addition to quinovosamine. GC-MS may have wide application in the differentiation of bacterial species. PMID:2324276

Gemination or fusion? - challenge for dental practitioners (case study).

PubMed

Chipashvili, N; Vadachkoria, D; Beshkenadze, E

2011-05-01

Gemination and fusion are anomalies in size, shape and structure of teeth. Gemination more frequently affects the primary teeth, but it may occur in permanent dentitions, usually in the incisor region. Geminated teeth are typically disfigured in appearance due to irregularities of the enamel. Fused teeth can have separated pulpal space, one pulp chamber and two canals or take the form of a large bifid crown with one pulpal space. It is hard to differentiate between fusion and gemination, especially if the supernumerary tooth bud is fused with the adjacent one. Usually, fusion may be differentiated from germination by a reduced number of teeth. An exception is in the unusual case in which the fusion is between a supernumerary tooth and normal tooth. A 20-year-old male referred to us at - "UniDent" - Dental Clinic, Training and Research Center. The patient complained about the large, unusual maxillary central incisors, lip irritation and aesthetic problems. According clinical examination and radiological findings, clinical diagnose was - bilateral germination of central incisors. Several treatment methods have been described in the literature with respect to the different types and morphological variations of fused and geminated teeth, including endodontic, direct\\indirect restorative, surgical, periodontal and/or orthodontic treatment. Our patient has demanded for better aesthetics and he choose the treatment option to make two separate PFM crowns. In the beginning of treatment, the length of tooth 11 was 9.5mm, after prosthodontic treatment it has become 11.5mm. For tooth 21, it was 9.9 millimeter and became - 10.8 mm, while the primary width of right central incisor appeared 13.2 millimeter and was narrowed until 10.8 mm. 12.8 mm was the - width of left central incisor, which finally became - 10.4 mm. Despite the considerable number of cases reported in the literature, the differential diagnosis between these abnormalities is very difficult, as well as, to find guideline of proper outcome of treatment therapy of abovementioned abnormalities. That's why, the aesthetic rehabilitation of doubled teeth, has been suggested, to depend upon the patient's desires, but at the same time, avoid treatment plans with aggressive management.

Isolation of Mycobacterium avium from waterfowl with polycystic livers

USGS Publications Warehouse

Roffe, Thomas J.

1989-01-01

An unusual gross appearance of avian tuberculosis, where fluid-filled thin-walled cysts are produced and grossly apparent in preference to granulomas, is presented. Histopathology confirmed the granulomatous nature of the lesions and the presence of intracellular acid-fast organisms. Mycobacterium avium complex was cultured from affected organs. The unusual gross presentation in these cases indicates the need to consider tuberculosis in the differential of cystic diseases of avian livers.

A Diverticular ‘Pain in the Bottom’

PubMed Central

Bardhan, Suchi K; Morgan, Emma; Daniels, Ian R; Mortensen, Neil J

2006-01-01

This is the case of a 40-year-old man with a gluteal abscess as the first presentation of diverticular disease. As well as the unusual site, imaging revealed the lack of a connective tract between the abscess and the abdominal cavity or retroperitoneum. In addition, a lack of gastrointestinal symptoms made this case very unusual. Hence, this highlights the need for a high index of clinical suspicion when the usual clinical pointers that guide to the diagnosis of diverticulitis are absent. PMID:16834842

A diverticular 'pain in the bottom'.

PubMed

Bardhan, Suchi K; Morgan, Emma; Daniels, Ian R; Mortensen, Neil J

2006-07-01

This is the case of a 40-year-old man with a gluteal abscess as the first presentation of diverticular disease. As well as the unusual site, imaging revealed the lack of a connective tract between the abscess and the abdominal cavity or retroperitoneum. In addition, a lack of gastrointestinal symptoms made this case very unusual. Hence, this highlights the need for a high index of clinical suspicion when the usual clinical pointers that guide to the diagnosis of diverticulitis are absent.

Rare Orbital Infections ~ State of the Art ~ Part II

PubMed Central

Hamed-Azzam, Shirin; AlHashash, Islam; Briscoe, Daniel; Rose, Geoffrey E; Verity, David H.

2018-01-01

Infections of the orbit and periorbita are relatively frequent. Identifying unusual organisms is crucial because they can cause severe local and systemic morbidity, despite their rarity. Opportunistic infections of the orbit should be considered mainly in debilitated or immunocompromised patients. The key to successful management includes a high index of suspicion, prompt diagnosis, and addressing the underlying systemic disease. This review summarizes unusual infectious processes of the orbit, including mycobacterial, fungal, and parasitic infections, as well as their pathophysiology, symptoms, signs, and treatment. PMID:29719648

An unusual case of chronic lateral foot pain following ankle inversion injury: osteoid osteoma of the tarsal cuboid bone.

PubMed

Aydogan, Umur; Dellenbaugh, Samuel G

2014-04-01

Osteoid osteomas are common benign tumors normally seen in the femur, tibia, and spine. They rarely are seen in the foot. We present an unusual case of osteoid osteoma of the cuboid in a 26-year-old man. This was initially thought to be an ankle sprain, as its first presentation was after a sporting injury. It was then treated as an infection before the true diagnosis--that of osteoid osteoma--was obtained.

Metastasis of hepatocellular carcinoma to the heart: unusual patterns in three cases with antemortem diagnosis.

PubMed

Lei, M H; Ko, Y L; Kuan, P; Lien, W P; Chen, D S

1992-04-01

Unusual patterns of cardiac metastasis were noted in three cases of hepatocellular carcinoma (HCC): one patient was noted to have a large right ventricular (RV) tumor mass with intracavitary growth and myocardial invasion; the second had massive pulmonary and left atrial (LA) metastasis; and the third patient had a right atrial tumor mass with concomitant RV and LA involvement. Tumor implantation to the RV without right atrial involvement and extensive myocardial invasion is unusual in HCC. The LA involvement is probably related to tumor growth from the pulmonary veins following massive metastasis to the lung, direct invasion of the atrial septum or tumor implantation via a subclinical right-to-left shunt through the patent foramen ovale. To the best of our knowledge, such unusual intracavitary metastases in HCC have not been reported previously. Cardiac metastasis, without local gross recurrence, may be one of the presentations after lobectomy in patients with HCC.

NEW DEVELOPMENTS IN THE DIAGNOSIS AND TREATMENT OF THYROID CANCER

PubMed Central

Schneider, David F.; Chen, Herbert

2013-01-01

Thyroid cancer exists in several forms. Differentiated thyroid cancers include papillary and follicular histologies. These tumors exist along a spectrum of differentiation, and their incidence continues to climb. A number of advances in the diagnosis and treatment of differentiated thyroid cancers now exist. These include molecular diagnostics and more advanced strategies for risk stratification. Medullary cancer arises from the parafollicular cells and not the follicular cells. Therefore, diagnosis and treatment differs from differentiated thyroid tumors. Genetic testing and newer adjuvant therapies has changed the diagnosis and treatment of medullary thyroid cancer. This review will focus on the epidemiology, diagnosis, work-up, and treatment of both differentiated and medullary thyroid cancers, focusing specifically on newer developments in the field. PMID:23797834

Differential diagnosis of suspected multiple sclerosis: a consensus approach

PubMed Central

Miller, DH; Weinshenker, BG; Filippi, M; Banwell, BL; Cohen, JA; Freedman, MS; Galetta, SL; Hutchinson, M; Johnson, RT; Kappos, L; Kira, J; Lublin, FD; McFarland, HF; Montalban, X; Panitch, H; Richert, JR; Reingold, SC; Polman, CH

2008-01-01

Background and objectives Diagnosis of multiple sclerosis (MS) requires exclusion of diseases that could better explain the clinical and paraclinical findings. A systematic process for exclusion of alternative diagnoses has not been defined. An International Panel of MS experts developed consensus perspectives on MS differential diagnosis. Methods Using available literature and consensus, we developed guidelines for MS differential diagnosis, focusing on exclusion of potential MS mimics, diagnosis of common initial isolated clinical syndromes, and differentiating between MS and non-MS idiopathic inflammatory demyelinating diseases. Results We present recommendations for 1) clinical and paraclinical red flags suggesting alternative diagnoses to MS; 2) more precise definition of “clinically isolated syndromes” (CIS), often the first presentations of MS or its alternatives; 3) algorithms for diagnosis of three common CISs related to MS in the optic nerves, brainstem, and spinal cord; and 4) a classification scheme and diagnosis criteria for idiopathic inflammatory demyelinating disorders of the central nervous system. Conclusions Differential diagnosis leading to MS or alternatives is complex and a strong evidence base is lacking. Consensus-determined guidelines provide a practical path for diagnosis and will be useful for the non-MS specialist neurologist. Recommendations are made for future research to validate and support these guidelines. Guidance on the differential diagnosis process when MS is under consideration will enhance diagnostic accuracy and precision. PMID:18805839

Clinicopathologic features of an unusual outbreak of cryptococcosis in dogs, cats, ferrets, and a bird: 38 cases (January to July 2003).

PubMed

Lester, Sally J; Kowalewich, Natalie J; Bartlett, Karen H; Krockenberger, Mark B; Fairfax, Theyne M; Malik, Richard

2004-12-01

To determine clinical and pathologic findings associated with an outbreak of cryptococcosis in an unusual geographic location (British Columbia, Canada). Retrospective study. 1 pink-fronted cockatoo, 2 ferrets, 20 cats, and 15 dogs. A presumptive diagnosis of cryptococcosis was made on the basis of serologic, histopathologic, or cytologic findings, and a definitive diagnosis was made on the basis of culture or immunohistochemical staining. No breed or sex predilections were detected in affected dogs or cats. Eleven cats had neurologic signs, 7 had skin lesions, and 5 had respiratory tract signs. None of 17 cats tested serologically for FeLV yielded positive results; 1 of 17 cats yielded positive results for FIV (western blot). Nine of 15 dogs had neurologic signs, 2 had periorbital swellings, and only 3 had respiratory tract signs initially. Microbiologic culture in 15 cases yielded 2 isolates of Cryptococcus neoformans var grubii (serotype A) and 13 isolates of C. neoformans var gattii (serotype B); all organisms were susceptible to amphotericin B and ketoconazole. Serologic testing had sensitivity of 92% and specificity of 98%. Serologic titers were beneficial in identifying infection in animals with nonspecific signs, but routine serum biochemical or hematologic parameters were of little value in diagnosis. Most animals had nonspecific CNS signs and represented a diagnostic challenge. Animals that travel to or live in this region and have nonspecific malaise or unusual neurologic signs should be evaluated for cryptococcosis.

Recurrent parotitis of childhood or juvenile recurrent parotitis--a review and report of two cases.

PubMed

Adeboye, Solape O; Macleod, Iain

2014-01-01

Recurrent parotitis of childhood is an uncommon condition which affects children of variable age. The condition may be misdiagnosed so delaying treatment. These two case reports highlight the variable signs and symptoms of this unusual condition and the value of ultrasound as an aid to diagnosis. This is to improve awareness of recurrent parotitis of childhood and aid early diagnosis.

Unusual colonoscopy finding: Taenia saginata proglottid.

PubMed

Patel, Nayan M; Tatar, Eric L

2007-11-07

Infection with tapeworms is a major problem in many parts of the world. Patients may be asymptomatic or have a significant morbidity depending on the species. Infection with Taenia species is sometimes found by expulsion of eggs or proglottids in stool. Species specific diagnosis of Taenia is difficult, but possible. We present a case of Taenia saginata incidentally discovered, and risk factors for transmission, diagnosis, symptoms, and treatment.

Iatrogenic pneumomediastinum and subcutaneous emphysema as a complication of colonoscopy with cold forceps biopsy.

PubMed

Loughlin, Michael T; Duncan, Timothy J

2012-04-01

A 58-year-old woman underwent outpatient colonoscopy with multiple cold forceps biopsy for evaluation of a presumptive diagnosis of ulcerative colitis. Six hours following the procedure, she developed subcutaneous crepitus and presented to the emergency department, where chest X-ray revealed pneumomediastinum and subcutaneous emphysema. Our case discusses this unusual complication of colonoscopy and its diagnosis and management.

The Terri Schiavo case: legal, ethical, and medical perspectives.

PubMed

Perry, Joshua E; Churchill, Larry R; Kirshner, Howard S

2005-11-15

Although tragic, the plight of Terri Schiavo provides a valuable case study. The conflicts and misunderstandings surrounding her situation offer important lessons in medicine, law, and ethics. Despite media saturation and intense public interest, widespread confusion lingers regarding the diagnosis of persistent vegetative state, the judicial processes involved, and the appropriateness of the ethical framework used by those entrusted with Terri Schiavo's care. First, the authors review the current medical understanding of persistent vegetative state, including the requirements for patient examination, the differential diagnosis, and the practice guidelines of the American Academy of Neurology regarding artificial nutrition and hydration for patients with this diagnosis. Second, they examine the legal history, including the 2000 trial, the 2002 evidentiary hearing, and the subsequent appeals. The authors argue that the law did not fail Terri Schiavo, but produced the highest-quality evidence and provided the most judicial review of any end-of-life guardianship case in U.S. history. Third, they review alternative ethical frameworks for understanding the Terri Schiavo case and contend that the principle of respect for autonomy is paramount in this case and in similar cases. Far from being unusual, the manner in which Terri Schiavo's case was reviewed and the basis for the decision reflect a broad medical, legal, and ethical consensus. Greater clarity regarding the persistent vegetative state, less apprehension of the presumed mysteries of legal proceedings, and greater appreciation of the ethical principles at work are the chief benefits obtained from studying this provocative case.

The many faces of pheochromocytoma.

PubMed

Ghayee, H K; Wyne, K L; Yau, F S; Snyder, W H; Holt, S; Gokaslan, S Tunc; Nwariaku, F

2008-05-01

To recognize and manage pheochromocytomas in unusual settings. Three case reports are presented with clinical, biochemical, imaging, and operative findings. The pitfalls in diagnosis of pheochromocytomas and management are addressed. We begin with a 27-yr-old gravida 2, para 1 Caucasian woman with unexplained tachycardia and hypertension during a routine pre-natal visit at 30 weeks estimated gestational age. Urinary studies revealed elevated catecholamines. Magnetic resonance imaging localized a 6.6-cm right adrenal mass with features consistent with a pheochromocytoma. She was medically managed with phenoxybenzamine and propranolol until 35 weeks, after which she underwent a combined Cesarean section, and open right adrenalectomy. Another patient, a 36-yr-old African-American woman presented to a hospital in cardiac arrest, with elevated serum troponins, and underwent cardiac catheterization, which revealed normal coronary arteries. A computed tomography (CT) scan revealed a left adrenal mass and CT-guided biopsy was consistent with a pheochromocytoma, although prior studies were negative. Finally, we present a 49-yr-old Caucasian woman who had a right adrenalectomy 10 yr prior and presented to the clinic with fluctuating blood pressures, headaches, and palpitations. Further testing revealed she had a recurrent metastatic pheochromocytoma. The challenges behind treating these patients are further explored. Antenatal diagnosis of pheochromocytoma, though challenging, is associated with lower maternal and fetal morbidity and mortality. The differential diagnosis for cardiac arrest in the presence of normal coronary arteries should include a pheochromocytoma. Finally, treatment with iodinated metaiodobenzylguanidine may be a therapeutic option for those patients with metastatic pheochromocytomas.

Mucormycosis Caused by Unusual Mucormycetes, Non-Rhizopus, -Mucor, and -Lichtheimia Species

PubMed Central

Gomes, Marisa Z. R.; Lewis, Russell E.; Kontoyiannis, Dimitrios P.

2011-01-01

Summary: Rhizopus, Mucor, and Lichtheimia (formerly Absidia) species are the most common members of the order Mucorales that cause mucormycosis, accounting for 70 to 80% of all cases. In contrast, Cunninghamella, Apophysomyces, Saksenaea, Rhizomucor, Cokeromyces, Actinomucor, and Syncephalastrum species individually are responsible for fewer than 1 to 5% of reported cases of mucormycosis. In this review, we provide an overview of the epidemiology, clinical manifestations, diagnosis of, treatment of, and prognosis for unusual Mucormycetes infections (non-Rhizopus, -Mucor, and -Lichtheimia species). The infections caused by these less frequent members of the order Mucorales frequently differ in their epidemiology, geographic distribution, and disease manifestations. Cunninghamella bertholletiae and Rhizomucor pusillus affect primarily immunocompromised hosts, mostly resulting from spore inhalation, causing pulmonary and disseminated infections with high mortality rates. R. pusillus infections are nosocomial or health care related in a large proportion of cases. While Apophysomyces elegans and Saksenaea vasiformis are occasionally responsible for infections in immunocompromised individuals, most cases are encountered in immunocompetent individuals as a result of trauma, leading to soft tissue infections with relatively low mortality rates. Increased knowledge of the epidemiology and clinical presentations of these unusual Mucormycetes infections may improve early diagnosis and treatment. PMID:21482731

Differential control of retrovirus silencing in embryonic cells by proteasomal regulation of the ZFP809 retroviral repressor.

PubMed

Wang, Cheng; Goff, Stephen P

2017-02-07

Replication of the murine leukemia viruses is strongly suppressed in mouse embryonic stem (ES) cells. Proviral DNAs are formed normally but are then silenced by a large complex bound to DNA by the ES cell-specific zinc-finger protein ZFP809. We show here that ZFP809 expression is not regulated by transcription but rather by protein turnover: ZFP809 protein is stable in embryonic cells but highly unstable in differentiated cells. The protein is heavily modified by the accumulation of polyubiquitin chains in differentiated cells and stabilized by the proteasome inhibitor MG132. A short sequence of amino acids at the C terminus of ZFP809, including a single lysine residue (K391), is required for the rapid turnover of the protein. The silencing cofactor TRIM28 was found to promote the degradation of ZFP809 in differentiated cells. These findings suggest that the stem cell state is established not only by an unusual transcriptional profile but also by unusual regulation of protein levels through the proteasomal degradation pathway.

Unusual case of cavitary lung metastasis from squamous cell carcinoma of the uterine cervix

PubMed Central

Raissouni, Soundouss; Ghizlane, Rais; Mouzount, Houda; Saoussane, Kharmoum; Khadija, Setti; Zouaidia, Fouad; Latib, Rachida; Mrabti, Hind; Errihani, Hassan

2013-01-01

Spontaneous excavation of primary lung cancer is common; however cavitation of metastatic lung lesions is rare and usually confused with benign lesions. In Moroccan context tuberculosis is the first suspected diagnosis of lung excavations. We report a rare case of cavitary lung metastasis of a uterine cervix cancer, treated initially as tuberculosis. A 40-year old non-smoking woman with a known history of squamous cell carcinoma of the uterine cervix since August 2005; presented on September 2008 with right chest pain without fever, hemoptysis or weight loss. CT scan showed a thin walled cavity. Empirical Antibiotic therapy was conducted 15 days with poor outcome. Then antibacillary treatment was started with no proof of mycobacterial infection. A month later, the patient presented with gynecological bleeding and a pneumothorax. Bronchoscopy with transbronchial biopsy of the cavitary mass was performed. Pathology demonstrated a metastatic squamous cell carcinoma. Pelvic examination and MRI showed a subsequent local cervix recurrence. Patient underwent 3 courses of systemic chemotherapy. She died on June 2009 due to progressive disease. Even cavitary lung metastases are rare and benign differential diagnosis are more common, clinician should be careful in neoplastic context and investigation should be done to eliminate a recurrence. PMID:23560120

Unusual presentation of pheochromocytoma: thirteen years of anxiety requiring psychiatric treatment.

PubMed

Alguire, Catherine; Chbat, Jessica; Forest, Isabelle; Godbout, Ariane; Bourdeau, Isabelle

2018-01-01

Pheochromocytoma is a rare tumor of the adrenal gland. It often presents with the classic triad of headache, palpitations and generalized sweating. Although not described as a typical symptom of pheochromocytoma, anxiety is the fourth most common symptom reported by patients suffering of pheochromocytoma. We report the case of a 64 year old man who had severe anxiety and panic disorder as presenting symptoms of pheochromocytoma. After 13 years of psychiatric follow-up, the patient was diagnosed with malignant pheochromocytoma. After surgical resection of his pheochromocytoma and his hepatic metastases, the major panic attacks completely disappeared, the anxiety symptoms improved significantly and the psychiatric medications were stopped except for a very low maintenance dose of venlafaxine. We found in our cohort of 160 patients with pheochromocytoma 2 others cases of apparently benign tumors with severe anxiety that resolved after pheochromocytoma resection. These cases highlight that pheochromocytoma should be included in the differential diagnosis of refractory anxiety disorder. Anxiety and panic disorder may be the main presenting symptoms of pheochromocytoma.The diagnosis of pheochromocytoma should be excluded in cases of long-term panic disorder refractory to medications since the anxiety may be secondary to a catecholamine-secreting tumor.Surgical treatment of pheochromocytoma leads to significant improvement of anxiety disorders.

Pelvic Hydatidosis Mimicking a Malignant Multicystic Ovarian Tumor

PubMed Central

Mushtaq, Deeba; Verma, Neetu; Mahajan, N. C.

2010-01-01

Echinococcosis is a multisystem disease and has propensity to involve any organ, an unusual anatomical site, and can mimic any disease process. Primary peritoneal echinococcosis is known to occur secondary to hepatic involvement but occasional cases of primary peritoneal hydatid disease including pelvic involvement have also been reported. We report here 1 such case of primary pelvic hydatidosis mimicking a malignant multicystic ovarian tumor where there was no evidence of involvement of the liver or spleen. Our patient, a 27-year-old female, was detected to have a large right cystic adnexal mass on per vaginal examination which was confirmed by ultrasonography. Her biochemical parameters were normal and CA-125 levels, though mildly raised, were below the cut off point. She underwent surgery and on exploratory laparotomy, another cystic mass was found attached to the mesentery of the small gut. The resected cysts were processed histopathologically. On cut sections both large cysts revealed numerous daughter cysts. Microscopic examination of fluid from the cysts revealed free scolices with hooklets and the cyst wall had a typical laminated membrane with inner germinal layer containing degenerated protoplasmic mass. The diagnosis of pelvic hydatid disease was confirmed and patient was managed accordingly. Hydatid disease must be considered while making the differential diagnosis of pelvic cystic masses, especially in endemic areas. PMID:20877508

Undiagnosed vertebral hemangioma causing a lumbar compression fracture and epidural hematoma in a parturient undergoing vaginal delivery under epidural analgesia: a case report.

PubMed

Staikou, Chryssoula; Stamelos, Matthaios; Boutas, Ioannis; Koutoulidis, Vassileios

2015-08-01

Vertebral hemangiomas are benign vascular tumours of the bony spine which are usually asymptomatic. Pregnancy-related anatomical and hormonal changes may lead to expansion of hemangiomas and development of neurological symptoms. We present an unusual case of vertebral fracture due to an undiagnosed hemangioma presenting as postpartum back pain following epidural analgesia. A multiparous female with an unremarkable history developed intense lumbar pain after vaginal delivery under epidural analgesia. The pain was attributed to tissue trauma associated with the epidural technique. The patient had no clinical improvement with analgesics, and her symptoms deteriorated over the following days. A magnetic resonance imaging scan revealed an acute fracture of the second lumbar vertebra (L2) with epidural extension and mild compression of the dural sac, suggesting hemangioma as the underlying cause. The patient underwent successful spinal surgery with pedicle screw fixation to stabilize the fracture. Vertebral fractures secondary to acute expansion of a vertebral hemangioma rarely occur during vaginal delivery. In such cases, the labour epidural technique and analgesia may challenge the physician in making the diagnosis. Postpartum severe back pain should be thoroughly investigated even in the absence of neurological deficits, and osseous spinal pathology should be considered in the differential diagnosis.

Cushing syndrome: update on testing.

PubMed

Raff, Hershel

2015-03-01

Endogenous hypercortisolism (Cushing syndrome) is one of the most enigmatic diseases in clinical medicine. The diagnosis and differential diagnosis of Cushing syndrome depend on proper laboratory evaluation. In this review, an update is provided on selected critical issues in the diagnosis and differential diagnosis of Cushing syndrome: the use of late-night salivary cortisol in initial diagnosis and for postoperative surveillance, and the use of prolactin measurement to improve the performance of inferior petrosal sinus sampling to distinguish Cushing disease from ectopic adrenocorticotropic hormone (ACTH) syndrome during differential diagnosis of ACTH-dependent Cushing syndrome. Copyright © 2015 Elsevier Inc. All rights reserved.

Laparoscopic Excision of an Unusual Presentation of a Nabothian Cyst: Case Report and Review of the Literature.

PubMed

Nassif, Joseph; Nahouli, Hasan; Mourad, Ali; Yammine, Ryan; Khoury, Sally; Khalil, Ali

2017-12-22

Nabothian cysts are mucinous retention cysts formed through the accumulation of cervical mucus inside blocked cervical crypts leading to non-neoplastic mucinous cystic lesion in relation to the uterine cervix. The formation of Nabothian cysts is a common gynecological benign condition in women of reproductive age. While the presence of small-sized Nabothian cysts is usually clinically asymptomatic and requires no treatment or intervention, the diagnosis of larger Nabothian cysts can be mistaken with malignant tumors, including mucin producing carcinomas such as Adenoma malignum. In this study, we report the case of a large Nabothian cyst that was correctly diagnosed preoperatively using ultrasonography and magnetic resonance imaging (MRI), and successfully treated through laparoscopic excision, avoiding the performance of unnecessary hysterectomy. A 44-year old Lebanese patient presented with chronic dyspareunia and pelvic pain. An ultrasound was performed and revealed an 8cm multiloculated anechoic pelvic cystic lesion with no solid components. An MRI was performed and showed an 8cm mass lateral to the right vaginal wall, suggestive of a Nabothian cyst. The patient was scheduled for laparoscopic removal of the Nabothian cyst. The patient tolerated the procedure well and was discharged under stable condition a few hours after the operation. Careful preoperative examination, including the use of imaging methods such as ultrasonogoraphy and MRI, is crucial for diagnosis and differentiation of atypical presentation of benign, but large and complex, Nabothian cysts from other differential conditions of malignancies, consequently avoiding unnecessary hysterectomy. Use of laparoscopy as a minimally-invasive technique to excise such cysts is considered a valid option, allowing for a fast recovery for the patients.

Intermittent Ovarian Torsion in Pregnancy

PubMed Central

Young, Randall; Cork, Kelly

2017-01-01

Ovarian torsion during pregnancy is a fairly uncommon complication with a high patient morbidity and fetal mortality if not immediately treated. Ovarian torsion should be considered a clinical diagnosis, and a high level of clinical suspicion is needed by the practitioner to ensure that this diagnosis is not missed. We present an unusual case of intermittent ovarian torsion discussing both the presentation and the operative and post-operative management. PMID:29849404

Multiple spinal metastases from a well-differentiated liposarcoma of the iliac wing: a case report.

PubMed

Ben Nsir, A; Boubaker, A; Kassar, A Z; Abderrahmen, K; Kchir, N; Jemel, H

2015-01-01

A case report. To report an unusual case of multiple spinal metastases from an undiagnosed well-differentiated liposarcoma (WDLPS) of the iliac wing and to stress the need of a meticulous clinical examination and further screening of patients with chronic and asymptomatic bony lesions. University of medicine of Monastir, Department of neurological surgery, Fattouma Bourguiba University Hospital, Monastir, Tunisia and University of Medicine of Tunis EL Manar, Department of neurological surgery, Tunisian National Institute of Neurology, Tunis, Tunisia. A 39-year-old man presented with signs of spinal cord compression for the past 2 weeks. His medical history was consistent for an asymptomatic right iliac wing mass that appeared 3 years ago and for which he has not consulted. Magnetic resonance imaging revealed multiple bony lesions of the thoraco-lumbar spine associated with a 6-cm right paravertebral mass at the T4 level extending posteriorly through the intervertebral foramina to the spinal canal causing major spinal cord compression. An emergent T2-T6 laminectomy allowed for a complete resection of the epidural mass. Pathological examination confirmed the diagnosis of well-differentiated liposarcoma. Adjunctive radiation therapy was administered. The patient's neurological status improved remarkably under an intensive care and rehabilitation program. He was ambulatory without assistance in the second postoperative week. The case reported in this paper represents a genuine example of the possible metastatic potential of WDLPSs of the bone and underscores the importance of examining patients thoroughly, especially when they have chronic and asymptomatic lesions.

UNUSUAL BACTEROIDES-LIKE ORGANISM

PubMed Central

Goldberg, Herbert S.; Barnes, Ella M.; Charles, Anthony B.

1964-01-01

Goldberg, Herbert S. (University of Missouri, Columbia), Ella M. Barnes, and Anthony B. Charles. Unusual Bacteroides-like organism. J. Bacteriol. 87:737–742. 1964.—An organism is described which appears to be a new species of gram-negative, anaerobic, nonsporulating rod. It was isolated from poultry caeca at levels of 107 to 108 per g. It is primarily distinguished from related organisms by its unusual size (2.0 by 10.0 μ). It is biochemically differentiated from known species of Bacteroides, Fusobacterium, Sphaerophorous, and other accepted related genera. Its presence in large numbers in the gut of poultry, and its high metabolic activity would seem to indicate an important intestinal organism. Images PMID:14127590

Clinical and oral findings in an Afro-Brazilian family with Gorlin-Goltz syndrome: case series and literature review.

PubMed

da Silva Pierro, Viviane Santos; Marins, Marcello Roter; Borges de Oliveira, Renata Cabral; Cortezzi, Wladimir; Janini, Maria Elisa; Maia, Lucianne Cople

2015-01-01

Gorlin-Goltz syndrome (GGS) seems to be unusual in black persons. The authors present an Afro-Brazilian family case report of GGS. The main complaint of the index case was a painless swelling of the left mandible, which was diagnosed as an odontogenic keratocyst. Further classical features of the Syndrome were present in this patient. Other two family members were diagnosed as cases of GGS and one of them presented 11 clinical findings characteristic of the syndrome. From the three cases reported, two of them presented five major diagnostic criteria for the GGS, and the diagnosis was only made because of an oral complaint. This case series emphasizes the importance of carefully examining the patient and close relatives for signs of GGS, even if they belong to an ethnic group in which this diagnosis is unusual. © 2014 Special Care Dentistry Association and Wiley Periodicals, Inc.

Hemophagocytic syndrome as one of the main primary manifestations in acute systemic lupus erythematosus--case report and literature review.

PubMed

Carvalheiras, G; Anjo, D; Mendonça, T; Vasconcelos, C; Farinha, F

2010-05-01

Hemophagocytic syndrome is an unusual but fatal disorder characterized by pancytopenia and activation of macrophages. We describe one case of acute systemic lupus erythematosus with an unusual presentation of hemophagocytic syndrome not related to infection. The patient presented with pancytopenia related to increasing hemophagocytic activity of histiocytes in the bone marrow. Concomitant class IV World Health Organization lupus nephritis, serositis, high titer of antinuclear factor and positive test for anti-DNA antibody fitted the diagnostic criteria of systemic lupus erythematosus. She also presented with alveolar hemorrhage and lupus myocarditis. She underwent immunosuppressive therapy with recovery from the hemophagocytic syndrome. Therefore, diagnosis of acute lupus hemophagocytic syndrome was made. The clinical presentation, laboratory diagnosis, and management of the patient are discussed and the literature was reviewed and presented, with emphasis on a possible distinct lupus subset, which includes a more aggressive systemic disease with heart involvement.

Unusual chromosomal organization of telomeric sequences and expeditious karyotypic differentiation in the recently evolved Mus terricolor complex.

PubMed

Sharma, G G; Sharma, T

1998-01-01

The Mus terricolor complex displays a stable homozygous arrangement of autosomal heterochromatin variations in the form of accretion of definitive autosomal short arms among three nonoverlapping populations, in concert with an expeditious evolutionary differentiation into three chromosomal species: M. terricolor I, II, and III. In contrast to the highly conservative M. musculus-like chromosomes in the coexisting sibling species, M. booduga, reshuffling and differentiation of centric heterochromatin has occurred in harmony with a revision of centric configurations, resulting in acrocentric and submetacentric autosomes. The chromosomal distribution of the prevalent vertebrate telomeric sequence (TTAGGG)n was examined by fluorescence in situ hybridization to metaphase cells of M. terricolor I, II, and III. An unusual centric organization of internal telomeric sequences was detected in all the submetacentric and acrocentric autosomes. An auxiliary role of these presumably fragile, recombinogenic telomeric sequences in the evolutionary revision of centric configurations in the terricolor complex is hypothesized.

Legionella feeleii: an unusual organism associated with cutaneous infection in an immunocompromised patient.

PubMed

Verykiou, S; Goodhead, C; Parry, G; Meggitt, S

2018-04-01

We report a 23-year-old immunocompromised woman who, following cardiac transplantation, presented with an unusual cutaneous eruption. She developed a widespread pustular rash, systemic symptoms and a high temperature with raised inflammatory markers. The diagnosis was reached when a skin biopsy was cultured onto Legionella agar (buffered charcoal yeast extract) and Legionella feeleii was isolated. The patient was treated with 6 weeks of moxifloxacin and her cutaneous lesions gradually resolved. Cutaneous Legionella infections are uncommon and usually affect immunocompromised patients. © 2017 British Association of Dermatologists.

Enterobius granuloma: an unusual cause of omental mass in an 11-year-old girl.

PubMed

Kılıç, Sinan; Ekinci, Saniye; Orhan, Diclehan; Senocak, Mehmet Emin

2014-01-01

Enterobius vermicularis (pinworm) is the only nematode that infects humans. It is one of the most common intestinal parasites. Pinworm commonly infests the terminal ileum and colon, and does not cause severe morbidity unless ectopic infection occurs. However, granulomatous lesions caused by ectopic Enterobius vermicularis infection may lead to unusual clinical symptoms and may be misinterpreted as malignant lesions. Herein, the authors present an 11-year-old girl with pinworm infection who presented with abdominal pain and an omental mass, with special emphasis on the diagnosis and treatment.

Oral mucocele of unusual size on the buccal mucosa: clinical presentation and surgical approach.

PubMed

Seo, Juliana; Bruno, Ingrid; Artico, Gabriela; Vechio, Aluana Dal; Migliari, Dante A

2012-01-01

Oral mucoceles are small-size, benign minor salivary gland pathologies. The most frequent localizations of these lesions are the lower lip mucosa. However, in some cases, they grow to an unusual size and hinder the preliminary diagnosis of mucocele. The purpose of this article is to report a case of a large oral mucocele with a diameter of 3.5 cm on the buccal mucosa of a 43-years-old male patient. The surgical procedure was carried out for a complete removal of the lesion.

Oral Mucocele of Unusual Size on the Buccal Mucosa: Clinical Presentation and Surgical Approach

PubMed Central

Seo, Juliana; Bruno, Ingrid; Artico, Gabriela; Vechio, Aluana dal; Migliari, Dante A

2012-01-01

Oral mucoceles are small-size, benign minor salivary gland pathologies. The most frequent localizations of these lesions are the lower lip mucosa. However, in some cases, they grow to an unusual size and hinder the preliminary diagnosis of mucocele. The purpose of this article is to report a case of a large oral mucocele with a diameter of 3.5 cm on the buccal mucosa of a 43-years-old male patient. The surgical procedure was carried out for a complete removal of the lesion. PMID:22550550

Adenoid cystic carcinoma: An unusual presentation.

PubMed

Pushpanjali, M; Sujata, D Naga; Subramanyam, S Bala; Jyothsna, M

2014-05-01

The adenoid cystic carcinoma is a relatively rare epithelial tumor of the major and minor salivary glands, accounting for about 1% of all malignant tumor of the oral and maxillofacial regions. Peak incidence occurs between the 5(th) and 6(th) decades of life. The clinical and pathological findings typical of this tumor include slow growth, peri-neural invasion, multiple local recurrences and distant metastasis. Herein, we report a case of adenoid cystic carcinoma of oropharynx with unusual clinical presentation. The diagnosis of this case and importance of cytology in diagnosing such cases is discussed.

Adenoid cystic carcinoma: An unusual presentation

PubMed Central

Pushpanjali, M; Sujata, D Naga; Subramanyam, S Bala; Jyothsna, M

2014-01-01

The adenoid cystic carcinoma is a relatively rare epithelial tumor of the major and minor salivary glands, accounting for about 1% of all malignant tumor of the oral and maxillofacial regions. Peak incidence occurs between the 5th and 6th decades of life. The clinical and pathological findings typical of this tumor include slow growth, peri-neural invasion, multiple local recurrences and distant metastasis. Herein, we report a case of adenoid cystic carcinoma of oropharynx with unusual clinical presentation. The diagnosis of this case and importance of cytology in diagnosing such cases is discussed. PMID:25328314

Maxillary premolar resorption by canines: three case reports.

PubMed

Cooke, M E; Nute, S J

2005-05-01

Three unusual cases of maxillary premolar root resorption are reported. Three teenage patients were referred to the orthodontic department for management of ectopic maxillary canines. Radiographic examination revealed unilateral premolar root resorption in all three patients. This represents an unusual finding. Whereas the prevalence of maxillary lateral incisor root resorption secondary to palatally ectopic canines has been reported, the prevalence of premolar root resorption is unknown. This report discusses the findings in the context of the available literature. The postulated aetiology and the need for early diagnosis are highlighted.

An unusual presentation of primary malignant B-cell-type dural lymphoma

PubMed Central

Low, Yin Yee Sharon; Lai, Siang Hui; Ng, Wai Hoe

2014-01-01

Primary malignant B-cell-type dural lymphoma is a rare subtype of primary central nervous system lymphoma (PCNSL). We herein report an unusual case of diffuse B-cell lymphoma that presents as a chronic subdural haematoma without extracranial involvement. The notable aspects of this case include the patient’s immunocompetence, a short clinical history of symptom onset, rapid neurological deterioration and a final diagnosis of high-grade PCNSL. This case highlights the challenges neurosurgeons face, especially in the emergency setting, when the disease manifests in varied presentations. PMID:25631982

HMB-45 negative clear cell perivascular epithelioid cell tumor of the skin.

PubMed

Pusiol, Teresa; Morichetti, Doriana; Zorzi, Maria Grazia; Dario, Surace

2012-01-01

The first case of cutaneous clear cell perivascular epithelioid cell tumor (PEComa) with negative HMB-45 marker is presented. The tumor was a nodule 3x2 cm in size, located on the right foot in a 60-year-old man. The lesion consisted of large irregularly shaped cells with clear cytoplasm, negative for S-100 protein, HMB-45, Melan-A, pancytokeratin, epithelial membrane antigen and CAM5.2. Multifocal positivity for desmin, microphthalmia transcription factor and tyrosinase was found. The diagnosis of cutaneous PEComa of clear cell type was made. Clear cell change is a very unusual finding in PEComa and may pose problems in diagnostic differentiation from other clear cell cutaneous lesions that may be excluded with immunohistochemistry. In our case, the HMB-45 negativity may be explained by extensive clear cell change. Additional studies are necessary to accept the clear cell cutaneous HMB-45 negative PEComa as a new variant of perivascular epithelioid cell tumor.

Perforated duodenal ulcer: An unusual manifestation of allergic eosinophilic gastroenteritis.

PubMed

Riggle, Kevin M; Wahbeh, Ghassan; Williams, Elizabeth M; Riehle, Kimberly J

2015-11-28

Spontaneous perforation of a duodenal ulcer secondary to allergic eosinophilic gastroenteritis (EGE) has not been previously reported. We present such a case in a teenager who presented with peritonitis. After exploration and operative repair of his ulcer, he continued to experience intermittent abdominal pain, and further evaluation revealed eosinophilic gastroenteritis in the setting of multiple food allergies. His EGE resolved after adhering to a restrictive diet. Both duodenal ulcers and EGE are very rarely seen in pediatric patients. EGE has a variable presentation depending on the layer(s) of bowel wall affected and the segment of the gastrointestinal tract that is involved. Once diagnosed, it may respond to dietary changes in patients with recognized food allergies, or to steroids in patients in whom an underlying cause is not identified. Our case highlights the need to keep EGE in the differential diagnosis when treating pediatric patients with duodenal ulcers. The epidemiology, pathophysiology, and treatment of EGE are also discussed, along with a review of the current literature.

Two Immigrants with Tuberculosis of the Ear, Nose, and Throat Region with Skull Base and Cranial Nerve Involvement

PubMed Central

Richardus, Renate A.; Jansen, Jeroen C.; Steens, Stefan C. A.; Arend, Sandra M.

2011-01-01

We report two immigrants with tuberculosis of the skull base and a review of the literature. A Somalian man presented with bilateral otitis media, hearing loss, and facial and abducens palsy. Imaging showed involvement of both mastoid and petrous bones, extending via the skull base to the nasopharynx, suggesting tuberculosis which was confirmed by characteristic histology and positive auramine staining, while Ziehl-Neelsen staining and PCR were negative. A Sudanese man presented with torticollis and deviation of the uvula due to paresis of N. IX and XI. Imaging showed a retropharyngeal abscess and lysis of the clivus. Histology, acid-fast staining, and PCR were negative. Both patients had a positive Quantiferon TB Gold in-tube result and improved rapidly after empiric treatment for tuberculosis. Cultures eventually yielded M. tuberculosis. These unusual cases exemplify the many faces of tuberculosis and the importance to include tuberculosis in the differential diagnosis of unexplained problems. PMID:21541186

Massive splenomegaly in acute erythroid leukaemia (FAB Class-M6): an unusual presentation.

PubMed

Sherazi, Syed Furqan Haider; Butt, Zeeshan

2012-09-01

AML-M6 has a peak incidence in the seventh decade with slight male preponderance, and can also present at a younger age. The usual features are anaemia, thrombocytopenia, malaise, fatigue, easy bruising, epistaxis and petechiae. Splenomegaly may occur in 20-40 % of the cases but massive splenomegaly is rare presentation and have been only reported once in humans and once in animals. A 22 year Asian female, presented with fatigue, pallor, mild jaundice, exertional dyspnoea, epigastric pain, tender right hypochondrium and massive splenomegaly. Investigations revealed anaemia and thrombocytopenia, tear drop cells, basophilic stippling, piokilocytosis and anisochromia; increased uric acid and LDH. Abdominal ultrasound showed enlarged liver (22cm) and spleen (20cm). Bone marrow aspiration revealed 51% erythroid and 24% non-erythroid precursors, depressed leukopoeisis and megakarypoeisis. Erythroblasts were PAS and CD71 positive and also reacted to Antihaemoglobin-Antibody. This report highlights characteristic features and diagnostic criteria of erythroleukaemia, differential diagnosis of massive splenomegaly and their rare association.

A late unusual complication after an open cholecystectomy: Amputation neuroma of the CBD causing obstructive jaundice.

PubMed

Sleiman, Youssef A; Hassoun, Ziad A; Nasser, Haydar A; Abs, Leila; Allouch, Mustafa

2017-01-01

Cholecystectomy is one of the most frequently done procedures in general surgery. There are few reports of amputation neuromas following this procedure. This presentation describes a case of obstructive jaundice due to amputation neuroma in a patient with a history of cholecystectomy. We report about a 53 y o lady who presented with obstructive jaundice, 8 years following open cholecystectomy. Paraclinical investigations were in favor of cholangicarcinoma, however the final pathology revealed an amputation neuroma of the CBD. Amputation neuromas are rarely seen in the era of laparoscopic cholecystectomy. They are benign reparative lesions of the CBD following surgery or manipulation of the extra hepatic biliary tree. It is very difficult to diagnose them pre-operatively. Surgical resection is the first choice of treatment. Traumatic neuromas should always be among the differential diagnosis, when assessing a CBD mass in patients with a previous history of open cholecystectomy or surgery to the gastrointestinal tract. Copyright © 2017 The Author(s). Published by Elsevier Ltd.. All rights reserved.

Acute hemorrhagic edema of infancy: a troubling cutaneous presentation with a self-limiting course.

PubMed

Savino, Francesco; Lupica, Maria M; Tarasco, Valentina; Locatelli, Emanuela; Viola, Serena; di Montezemolo, Luca C; Coppo, Paola

2013-01-01

Acute hemorrhagic edema of infancy (AHEI) is an unusual form of leukocytoclastic vasculitis with dramatic distinguishing skin lesions that occurs in infants ages 4 to 24 months old. The disease presents with skin eruptions that usually start with large (1-5 cm), symmetrically distributed, hemorrhagic lesions in a characteristic cockade pattern. The lesions are typically located on the lower extremities, face (in particular the ears, cheeks, and eyelids), and gluteal area. Fever may accompany skin eruptions. Clinical presentation at onset requires clinical and laboratory examination to distinguish it from more serious diseases and other vasculitis. The main differential diagnosis of AHEI is Henoch-Schönlein purpura. AHEI is generally a self-limiting disease, so a conservative approach should be considered. Topical or systemic corticosteroid therapy has been reported to be beneficial, as well as antihistamines and dapsone, although AHEI usually resolves completely with or without treatment. We report two cases of AHEI and an update of the literature. © 2012 Wiley Periodicals, Inc.

Osteolytic bone lesions, severe hypercalcemia without circulating blasts: unusual presentation of childhood acute lymphoblastic leukemia

PubMed Central

Bechir, Achour; Haifa, Regaieg; Atef, Ben Abdelkader; Emna, Bouslema; Asma, Achour; Nesrine, Ben Sayed; Yosra, Ben Youssef; Abdrrahim, Khelif

2017-01-01

Hypercalcemia and severe osteolytic lesions are rare complications of acute lymphoblastic leukemia (ALL) in childhood. We report a case of a 3 years old boy who presented with prolonged fever, nausea, vomiting and increasing lower limbs pain. Skeletal X-rays and CT scan showed severe osteolytic lesions of the skull and extremities. Her physical examination showed multiple cervical lymph nodes. In laboratory tests, he had severe hypercalcemia. Parathyroid hormone (PTH) was not elevated. Despite the absence of circulating blasts, bone marrow biopsy revealed B-precursor (ALL). Hypercalcemia was initially treated with intravenous isotonic sodium chloride solution and diuretics but the serum calcium level normalized only after the beginning of corticosteroids and chemotherapy. The child responded initially to chemotherapy and eventually relapsed and died of septic shock. Acute leukemia must be considered in differential diagnosis in patients with hypercalcemia. A detailed examination even when there no circulating blasts in their peripheral blood smear, and if in doubt bone marrow aspiration should must be taken into consideration. PMID:28690758

Occurrence of mesothelial/monocytic incidental cardiac excrescences in material from open-heart procedures: case reports and literature review.

PubMed

Grossi, Vitor Gabriel Ribeiro; Lee, Karen; Demarchi, Léa Maria; Castelli, Jussara Bianchi; Aiello, Vera Demarchi

2018-01-01

Mesothelial/monocytic incidental cardiac excrescences (MICE) are unusual findings during the histological analysis of material from the pericardium, mediastinum, or other tissues collected in open-heart surgery. Despite their somewhat worrisome histological appearance, they show a benign clinical course, and further treatment is virtually never necessary. Hence, the importance of recognizing the entity relays in its differential diagnosis, as an unaware medical pathologist may misinterpret it for a malignant neoplasm. Other mesothelial and histiocytic proliferative lesions, sharing very close histological morphology and immunohistochemistry features with MICE, have been described in sites other than the heart or the mediastinum. This similarity has led to the proposal of the common denomination "histiocytosis with raisinoid nuclei." We report three cases from the pathology archives of the Heart Institute of São Paulo University (Incor/HC-FMUSP), diagnosed as "mesothelial/monocytic incidental cardiac excrescence," with immunohistochemical documentation, and provide a literature review of this entity.

Low-Grade Appendiceal Mucinous Neoplasm Involving the Endometrium and Presenting with Mucinous Vaginal Discharge.

PubMed

Vavinskaya, Vera; Baumgartner, Joel M; Ko, Albert; Saenz, Cheryl C; Valasek, Mark A

2016-01-01

Primary appendiceal mucinous lesions are uncommon and represent a spectrum from nonneoplastic mucous retention cysts to invasive adenocarcinoma. Low-grade appendiceal mucinous neoplasms (LAMNs) represent an intermediate category on this spectrum and can be classified according to whether or not they are confined to the appendix. Although LAMNs are frequently confined to the appendix, they can also spread to the peritoneum and clinically progress as pseudomyxoma peritonei (i.e., mucinous ascites). Thus, the appropriate classification of appendiceal primary neoplasia is essential for prognosis and influences clinical management. In addition, the precise classification, management, and clinical outcome of patients with disseminated peritoneal disease remain controversial. Here, we report an unusual case of LAMN with pseudomyxoma peritonei that initially presented with mucinous and bloody vaginal discharge. Pathological evaluation revealed low-grade appendiceal mucinous neoplasm with secondary involvement of the peritoneum, ovaries, and endometrial surface. Therefore, LAMN should be considered in the differential diagnosis of mucinous vaginal discharge.

Primary Conjunctival Tuberculosis Presenting as Dry Eye: A Rare Case Report and Review of the Literature.

PubMed

Brar, Rupinder Kaur; Singh, Ashok; Deshpande, Archana Hemant; Gargade, Chitrawati Bal; Das, Sujit

2017-11-01

Primary conjunctival tuberculosis is very rare in the developed countries. In an endemic country like India, it should be considered in the differential diagnosis of any unusual conjunctival lesion with unilaterality, chronicity, and nonresolution of symptoms after steroid use. We present the case of a 52-year-old female who presented with unilateral itching and blurring of vision for 20 days. There were irregular nodular elevated areas with shrinkage of the lower palpebral conjunctiva. A biopsy of the lesion revealed necrotizing epithelioid cell granulomas along with Langhans type of giant cells. However, no acid-fast bacilli were seen on Ziehl-Neelsen stain. Systemic examination of the patient was normal, and there was no evidence of pulmonary tuberculosis. Polymerase chain reaction of conjunctival scrapings was positive for Mycobacterium tuberculosis . The patient was started on antitubercular drugs. We present this very rare case of primary tuberculosis of the conjunctiva presenting with dryness of the eye.

Dermanyssus gallinae (chicken mite): an underdiagnosed environmental infestation.

PubMed

Collgros, H; Iglesias-Sancho, M; Aldunce, M J; Expósito-Serrano, V; Fischer, C; Lamas, N; Umbert-Millet, P

2013-06-01

Dermanyssus gallinae is a mite that normally parasitizes small birds but may occasionally bite humans. We report an unusual case of an 82-year-old woman who presented with pruritus and bite-like lesions over her trunk. Other members of the household were also affected. On physical examination, mites < 1 mm in size were found on the patient's body. The family were residing in the city centre and had no pets, but there were pigeon nests in close proximity to the house. Most dermatologists have difficulties identifying ectoparasitosis. In the case of D. gallinae, the small size of the mites and the fact that they leave the host after feeding means that they may not be seen at presentation, thus such infestations are likely to be underdiagnosed. Physicians should be aware that infection with this mite is possible even in patients from urban areas, and it should be included in the differential diagnosis of conditions causing recurrent pruritus unresponsive to standard treatments. © The Author(s) CED © 2013 British Association of Dermatologists.

Neuroretinitis associated with melanocytoma of the optic disk.

PubMed

García-Arumí, J; Salvador, F; Corcostegui, B; Mateo, C

1994-01-01

Melanocytomas of the optic disk are heavily pigmented benign tumors that are most often discovered during routine examination, as they are classically asymptomatic. Although a slight impairment of visual acuity attributable to the tumor may occur in large tumors, acute profound visual loss is extremely unusual. A case involving a 24-year-old woman with melanocytoma of the optic nervehead in the right eye, who experienced acute severe visual loss, an afferent pupillary defect, and optic nervehead edema, is discussed. Laboratory tests and serology for Toxoplasmosis, Syphilis, Borrelia, and Leptospira were performed. The severe loss of vision, optic disc swelling, exudative detachment of the peripapillary retina, macular star, and spontaneous resolution in an otherwise healthy patient were all consistent with Leber's stellate idiopathic neuroretinitis. Results of serologic testing were not contributory. This is the first report of Leber's neuroretinitis associated with melanocytoma of the optic nervehead, and should be included in the differential diagnosis of neuroretinitis. The possible mechanisms responsible for this association are discussed.

The Potential of Gait Analysis to Contribute to Differential Diagnosis of Early Stage Dementia: Current Research and Future Directions

ERIC Educational Resources Information Center

Morgan, Debra; Funk, Melanie; Crossley, Margaret; Basran, Jenny; Kirk, Andrew; Bello-Haas, Vanina Dal

2007-01-01

Early differential diagnosis of dementia is becoming increasingly important as new pharmacologic therapies are developed, as these treatments are not equally effective for all types of dementia. Early detection and differential diagnosis also facilitates informed family decision making and timely access to appropriate services. Information about…

Differential diagnosis of hyperkalemia: an update to a complex problem.

PubMed

Eleftheriadis, T; Leivaditis, K; Antoniadi, G; Liakopoulos, V

2012-10-01

Hyperkalemia is a relative common and sometimes life threatening electorlyte disorder. Although its symptomatic treatment is relatively easy, since precise therapeutic algorithms are available, its differential diagnosis is more complicated. The present review aims to unfold the differential diagnosis of hypekalemia using a pathophysiological, albeit clinically useful, approach. The basic elements of potassium homeostasis are provided, the causes of hyperkalemia are categorized and analysed and finally the required for the diferrential diagnosis laboratory tests are mentioned.

[Contrastive study on conventional ultrasound, compression elastography and acoustic radiation force impulse imaging in the differential diagnosis of benign and malignant breast tumors].

PubMed

Zhang, Lu; Zhou, Ping; Deng, Jin; Tian, Shuangming; Qian, Ying; Wu, Xiaomin; Ma, Shuhua; Li, Jiale

2014-12-01

To evaluate the diagnostic performance of conventional ultrasound, compression elastography (CE) and acoustic radiation force impulse imaging (ARFI) in differential diagnosis of benign and malignant breast tumors. A total of 98 patients with liver lesions were included in the study. The images of conventional ultrasound, CE and the values of virtual touch tissue quantification (VTQ) of breast lesions were obtained. The diagnostic performance of conventional ultrasound, CE and ARFI were assessed by using pathology as the gold standard, and then evaluate the diagnosis efficiency of these three approaches in differential diagnosing benign and malignant breast tumors. The specificity, sensitivity and accuracy in the diagnosis of malignant breast tumors for conventional ultrasound were 80.0%, 81.1% and 81.7%, respectively, whereas for CE elastic score were 85.7%, 86.7% and 86.3%, respectively. With a cutoff value of 3.71 for the SR, the sensitivity, specificity, accuracy in diagnosis of malignant breast tumors were 97.1%, 83.3% and 88.4%, respectively. With a cutoff value of 3.78 m/s for VTQ, the sensitivity, specificity, accuracy in diagnosis of malignant breast tumors were 94.3%, 91.7% and 92.6%, respectively. The difference in diagnosis efficiency among ARFI, CE and conventional ultrasound in differential diagnosis of benign and malignant breast tumors was significant (P< 0.05). Conventional ultrasound, CE and ARFI are all useful for the differential diagnosis of benign and malignant breast tumors. But the diagnosis efficiency of ARFI is superior to CE and conventional ultrasound. The three approaches can help each other in differential diagnosis of benign and malignant breast tumors.

Differential diagnosis of hyperkalemia: an update to a complex problem

PubMed Central

Eleftheriadis, T; Leivaditis, K; Antoniadi, G; Liakopoulos, V

2012-01-01

Hyperkalemia is a relative common and sometimes life threatening electorlyte disorder. Although its symptomatic treatment is relatively easy, since precise therapeutic algorithms are available, its differential diagnosis is more complicated. The present review aims to unfold the differential diagnosis of hypekalemia using a pathophysiological, albeit clinically useful, approach. The basic elements of potassium homeostasis are provided, the causes of hyperkalemia are categorized and analysed and finally the required for the diferrential diagnosis laboratory tests are mentioned. PMID:23935306

Herpes zoster involving penis and scrotum: an unusual occurrence.

PubMed

Arshad, Abdul Rehman; Alvi, Kamran Yousaf; Chaudhary, Ammad Akram

2015-03-01

Herpes zoster is an infectious vesicular skin rash in a dermatomal distribution caused by Varicella zoster virus. It occurs very uncommonly in sacral dermatomes. We describe a case with rash on penis and scrotum due to involvement of S2 dermatome in a young male. The disease followed an uneventful course and the patient recovered completely without any sequelae or complications. This case is being presented to highlight its unusual location and to discuss differentiation from another viral infection commonly seen at this site.

Using kisspeptin to assess GnRH function in an unusual case of primary amenorrhoea.

PubMed

Vimalesvaran, S; Narayanaswamy, S; Yang, L; Prague, J K; Buckley, A; Miras, A D; Franks, S; Meeran, K; Dhillo, W S

2017-01-01

Primary amenorrhoea is defined as the failure to commence menstruation by the age of 15 years, in the presence of normal secondary sexual development. The potential causes of primary amenorrhoea extend from structural to chromosomal abnormalities. Polycystic ovarian syndrome (PCOS) is a common cause of secondary amenorrhoea but an uncommon cause of primary amenorrhoea. An early and prompt diagnosis of PCOS is important, as up to 30% of these women are predisposed to glucose intolerance and obesity, with the subgroup of women presenting with primary amenorrhoea and PCOS displaying a higher incidence of metabolic dysfunction. We describe a case of an 18-year-old female presenting with primary amenorrhoea of unknown aetiology. Although initial investigations did not demonstrate clinical or biochemical hyperandrogenism or any radiological evidence of polycystic ovaries, a raised luteinising hormone (LH) suggested a diagnosis of PCOS. If PCOS was the correct diagnosis, then one would expect intact hypothalamic GnRH and pituitary gonadotropin release. We used the novel hormone kisspeptin to confirm intact hypothalamic GnRH release and a GnRH stimulation test to confirm intact pituitary gonadotroph function. This case highlights that kisspeptin is a potential unique tool to test GnRH function in patients presenting with reproductive disorders. Polycystic ovarian syndrome (PCOS) can present with primary amenorrhoea, and therefore, should be considered in the differential diagnosis.PCOS is a heterogeneous condition that may present in lean women with few or absent signs of hyperandrogenism.GnRH stimulation tests are useful in evaluating pituitary function; however, to date, we do not have a viable test of GnRH function. Kisspeptin has the potential to form a novel diagnostic tool for assessing hypothalamic GnRH function by monitoring gonadotropin response as a surrogate marker of GnRH release.Confirmation of intact GnRH function helps consolidate a diagnosis in primary amenorrhoea and gives an indication of future fertility.

Specific phobias in older adults: characteristics and differential diagnosis.

PubMed

Coelho, Carlos M; Gonçalves, Daniela C; Purkis, Helena; Pocinho, Margarida; Pachana, Nancy A; Byrne, Gerard J

2010-08-01

Differential diagnosis implies identifying shared and divergent characteristics between clinical states. Clinical work with older adults demands not only the knowledge of nosological features associated with differential diagnosis, but also recognition of idiosyncratic factors associated with this population. Several factors can interfere with an accurate diagnosis of specific phobia in older cohorts. The goal of this paper is to review criteria for specific phobia and its differential diagnosis with panic disorder, agoraphobia, post-traumatic stress disorder and obsessive compulsive disorder, while stressing the specific factors associated with aging. A literature search regarding specific phobia in older adults was carried out using PubMed. Relevant articles were selected and scanned for further pertinent references. In addition, relevant references related to differential diagnosis and assessment were used. Etiologic factors, specificity of feared stimulus or situation, fear predictability and the nature of phobic situations are key points to be assessed when implementing a differential diagnosis of specific phobia. First, age-related sensory impairments are common and interfere both with information processing and communication. Second, medical illnesses create symptoms that might cause, interfere with, or mimic anxiety. Third, cohort effects might result in underreporting, through the inability to communicate or recognize anxiety symptoms, misattributing them to physical conditions. Finally, diagnostic criteria and screening instruments were usually developed using younger samples and are therefore not adapted to the functional and behavioral characteristics of older samples.

Tuberculous Posterior Sclero-Uveitis with Features of Vogt-Koyanagi-Harada Uveitis: An Unusual Case.

PubMed

Kalogeropoulos, Dimitrios; Kitsos, George; Konstantinidis, Athanasios; Gartzonika, Constantina; Svarna, Evgenia; Malamos, Konstantinos; Katsanevakis, Emmanouil; Kalogeropoulos, Chris

2017-04-08

BACKGROUND Ocular tuberculosis (TB) is a clinical entity that presents with a wide range of clinical manifestations. It is regarded as an extremely challenging condition from the point of view of diagnostic approach and calls for early diagnosis and prompt treatment, as it can potentially lead to blindness. CASE REPORT This is a case report of a 32-year-old male from southern India who has been living and working in Greece over the last 10 years and presented with 2-week history of pain and progressive visual impairment of his left eye. He underwent a thorough clinical ophthalmological examination and imaging of the fundus, and the findings were consistent with uveitis. However, the manifestations of the inflammation were complicated as they included features that could be attributed mainly to Vogt-Koyanagi-Harada (VKH) disease and tuberculous serpiginous-like uveitis. Therefore, a systemic evaluation, together with specific laboratory and paraclinical investigations, were carried out to define the etiology of the inflammation and develop an optimal therapeutic plan. Taking into account specific findings from the chest imaging, a positive purified protein derivative (PPD) skin test, and sputum cultures positive for Mycobacterium tuberculosis (MTB), we set a diagnosis of posterior sclero-uveitis and started our patient on anti-tuberculous treatment. CONCLUSIONS This case reveals an atypical manifestation of tuberculous sclero-uveitis imitating Vogt-Koyanagi-Harada disease together with a few characteristics of serpiginous-like tuberculous uveitis, emphasizing the fact that tuberculosis should always be included in the differential diagnosis of uveitis when there is no obvious underlying disease.

Developing a semantic web model for medical differential diagnosis recommendation.

PubMed

Mohammed, Osama; Benlamri, Rachid

2014-10-01

In this paper we describe a novel model for differential diagnosis designed to make recommendations by utilizing semantic web technologies. The model is a response to a number of requirements, ranging from incorporating essential clinical diagnostic semantics to the integration of data mining for the process of identifying candidate diseases that best explain a set of clinical features. We introduce two major components, which we find essential to the construction of an integral differential diagnosis recommendation model: the evidence-based recommender component and the proximity-based recommender component. Both approaches are driven by disease diagnosis ontologies designed specifically to enable the process of generating diagnostic recommendations. These ontologies are the disease symptom ontology and the patient ontology. The evidence-based diagnosis process develops dynamic rules based on standardized clinical pathways. The proximity-based component employs data mining to provide clinicians with diagnosis predictions, as well as generates new diagnosis rules from provided training datasets. This article describes the integration between these two components along with the developed diagnosis ontologies to form a novel medical differential diagnosis recommendation model. This article also provides test cases from the implementation of the overall model, which shows quite promising diagnostic recommendation results.

Detection of lupus erythematosus cells in pleural effusion: An unusual presentation of systemic lupus erythematosus.

PubMed

Gulhane, Sushma; Gangane, Nitin

2012-01-01

Systemic lupus erythematosus (SLE) is a chronic inflammatory disease typically diagnosed by a combination of physical findings and clinical laboratory testing. Several decades ago, the diagnosis of lupus included the lupus erythematosus (LE) cell assay. SLE is associated with pleuropulmonary manifestations in well over 50% of cases. Although pleural effusion is common but very rarely is the initial manifestation of disease. There are very few reports of SLE diagnosed in a cytopathology laboratory. We report an unusual case of SLE in a 16-year-old female who presented with acute shortness of breath, fever and cough. Her chest radiograph showed bilateral pleural effusion. This effusion was tapped and sent to the cytopathology laboratory. The cytological examination of the pleural fluid revealed numerous LE cells and led to the diagnosis of SLE. Autoimmune serology techniques such as anti-nuclear antibody staining have replaced the LE cell assay. However, as presented in this report and found in a review of the literature, the in vivo finding of LE cells by cytopathology can provide an important clue to the diagnosis of SLE, especially when associated with an uncommon presentation.

Primary squamous cell carcinoma of the breast with unusual basal-HER2 phenotype.

PubMed

Shui, Ruohong; Li, Anqi; Yang, Fei; Zhou, Xiaoyan; Yu, Baohua; Xu, Xiaoli; Yang, Wentao

2014-01-01

To report three cases of primary squamous cell carcinoma of the breast with an unusual "basal-HER2" phenotype. Clinical data were analyzed. Morphological features were observed. Immunohistochemical study for ER, PR, HER2, Ki-67, CK 5/6, CK10/13, CK14, EGFR, P63 and FISH detection of HER2 gene amplification were performed. Three patients were all female with 26, 57 and 66 years old. The tumors were 3 cm, 4 cm and 5 cm in size respectively. Morphologically, all three tumors were pure squamous cell carcinoma and entirely composed metaplastic squamous cells. Two tumors were moderately differentiated and one was poorly differentiated. All three patients were positive for P63 or CK10/13. All three tumors exhibited basal-HER2 phenotype: negative for ER and PR, positive for HER2 protein and HER2 gene amplification, and positive for at least two basal markers. SCC with basal-HER2 phenotype is an extremely rare subset of breast carcinoma. Since it may have worse prognosis than typical basal-like SCC, recognization of this unusual SCC in routine work may have obvious clinical significance.

A Challenging Case of Primary Breast Hodgkin's Lymphoma

PubMed Central

ZARNESCU, Narcis Octavian; ILIESIU, Andreea; PROCOP, Alexandru; TAMPA, Mircea; MATEI, Clara; SAJIN, Maria; COSTACHE, Mariana; DUMITRU, Adrian; LAZAROIU, Anca Mihaela

2015-01-01

Primary breast lymphoma (PBL) is a rare entity accounting for less than 1% of all breast malignancies. Diagnostic criteria for primary Hodgkin's lymphoma of the breast are: the presence of sufficient tissue for diagnosis, close interaction between mammary tissue and lymphomatous infiltrate and no evidence or prior diagnosis of widespread lymphoma. Our case illustrates an unusual presentation of Hodgkin's lymphoma of the breast: clinically as inflammatory breast cancer and core biopsy as granulomatous mastitis, the final diagnosis requiring surgical biopsy. Current information regarding this entity is scant, mainly build upon its rarity. In this paper we assess the clinical presentation, the step-by-step diagnosis, the treatment and the importance of immunohistochemistry in this uncommon condition. PMID:26225149

A Challenging Case of Primary Breast Hodgkin's Lymphoma.

PubMed

Zarnescu, Narcis Octavian; Iliesiu, Andreea; Procop, Alexandru; Tampa, Mircea; Matei, Clara; Sajin, Maria; Costache, Mariana; Dumitru, Adrian; Lazaroiu, Anca Mihaela

2015-03-01

Primary breast lymphoma (PBL) is a rare entity accounting for less than 1% of all breast malignancies. Diagnostic criteria for primary Hodgkin's lymphoma of the breast are: the presence of sufficient tissue for diagnosis, close interaction between mammary tissue and lymphomatous infiltrate and no evidence or prior diagnosis of widespread lymphoma. Our case illustrates an unusual presentation of Hodgkin's lymphoma of the breast: clinically as inflammatory breast cancer and core biopsy as granulomatous mastitis, the final diagnosis requiring surgical biopsy. Current information regarding this entity is scant, mainly build upon its rarity. In this paper we assess the clinical presentation, the step-by-step diagnosis, the treatment and the importance of immunohistochemistry in this uncommon condition.

Two Different Cell Populations Is an Important Clue for Diagnosis of Primary Cutaneous Adenoid Cystic Carcinoma: Immunohistochemical Study

PubMed Central

Alkan, Banu Ince; Karadeniz, Müjde; Bozdoğan, Nazan

2017-01-01

Primary cutaneous adenoid cystic carcinoma (PCACC) is a very rare malignancy. The differential diagnosis of PCACCs in pathology practice can be difficult and a group of primary and metastatic lesions, including adenoid basal cell carcinoma of the skin, should be considered in the differential diagnosis. Besides histomorphological clues, immunohistochemistry studies are very helpful in the differential diagnosis of PCACC. We report herein a case of PCACC with extensive immunohistochemical studies and review the literature from an immunohistochemistry perspective. PMID:28243477

Unusual MR spectroscopic imaging pattern of an astrocytoma: lack of elevated choline and high myo-inositol and glycine levels.

PubMed

Londoño, Ana; Castillo, Mauricio; Armao, Diane; Kwock, Lester; Suzuki, Kinuko

2003-05-01

We present the case of a patient with an MR imaging study showing an ill-defined intra-axial mass in the right insula and frontal lobe. The mass showed high signal intensity on T2-weighted and fluid-attenuated inversion recovery images and an unusual proton MR spectroscopic imaging pattern characterized by the presence of high levels of myo-inositol/glycine, no significant elevation of choline, and mildly reduced N-acetylaspartate. The histopathologic diagnosis was of diffuse astrocytoma with oligodendroglial components (World Health Organization grade II).

Endogenous endophthalmitis with an unusual infective agent: Actinomyces neuii.

PubMed

Graffi, Shmuel; Peretz, Avi; Naftali, Modi

2012-01-01

To report an unusual case of a patient with endogenous endophthalmitis caused by Actinomyces neuii. A 69-year-old woman in an immunosuppressed state and who had a previous history of periappendicular abscess presented with bilateral red painful eyes. The diagnosis was confirmed by culture and pan-bacterial polymerase chain reaction drawn from anterior chamber sample. On admission, the patient underwent an intravitreal injection of vancomycin combined with ceftazidime. Following a 3-week treatment of intravenous penicillin and topical sulfacetamide sodium, the patient recovered fully. Actinomyces neuii can cause endogenous endophthalmitis. Intravenous penicillin G is an effective treatment leading to favorable prognosis.

Catheter-related bacteraemia and infective endocarditis caused by Kocuria species.

PubMed

Lai, C C; Wang, J Y; Lin, S H; Tan, C K; Wang, C Y; Liao, C H; Chou, C H; Huang, Y T; Lin, H I; Hsueh, P R

2011-02-01

We describe five patients with positive blood culture for Kocuria species. Three patients had catheter-related bacteraemia and one had infective endocarditis caused by Kocuria kristinae, and one had a K. marina isolate, which was considered to be a contaminant. Identification of the isolates was further confirmed by 16S rRNA gene sequence analysis. In conclusion, Kocuria species are an unusual cause of infection in immunocompromised patients. Accurate identification with molecular methods is imperative for the diagnosis of these unusual pathogens. © 2010 The Authors. Journal Compilation © 2010 European Society of Clinical Microbiology and Infectious Diseases.

Nasal dermoid sinus cysts: an unusual presentation, computed tomographic scan findings, and surgical results.

PubMed

Posnick, J C; Bortoluzzi, P; Armstrong, D C

1994-05-01

Midline nasal dermoid cysts are congenital lesions resulting from aberrant embryological development. Accurate diagnosis and effective treatment are essential to avoid craniofacial skeletal deformations, cyst rupture, and infection that could cause cutaneous, ocular, or intracranial complications. We report an unusual case of congenital midline nasal dermoid cysts in which an 18-month-old child presented to a hospital emergency department with periorbital cellulitis. It resulted from multiple midline nasal dermoid cysts involving the nasal, forehead, and both orbital regions but without intracranial extension. The patient was successfully managed with a craniofacial approach.

A Pressing Diagnosis – A Compromised Testicle Secondary to Compartment Syndrome

PubMed Central

Douglas, JW; Hicks, JA; Manners, J; Hayes, MC

2008-01-01

Hydrocoeles are a common cause of scrotal swelling and discomfort in a significant proportion of men. We report a case of compartment syndrome within the tunica vaginalis. This is an unusual and previously unreported complication of a hydrocoele. PMID:18325198

Obstructive hydrocephalus as a result of giant cell tumor of the thoracic spine: A case report

PubMed Central

WEI, CHENG-YU; CHEN, SHUO-TSUNG; TAI, HSU-CHIH; WANG, WEN-BING; CHANG, CHI-CHU; WANG, YAO-CHIN; WEI, LI; KUNG, WOON-MAN

2016-01-01

Giant cell tumors (GCTs) are rare bone tumors that account for ~5% of all primary bone tumors. When GCTs occur in the spine, patients usually present with localized pain and neurological symptoms, such as radiating pain or hyperesthesia. In the current report, an unusual case of a GCT of the thoracic spine associated with hydrocephalus is described. A 48-year-old male presented with urinary retention, loss of sensation in the lower limbs and inability to walk. The patient eventually developed hydrocephalus combined with altered consciousness, indicated by an inability to follow simple commands. Magnetic resonance (MR) imaging demonstrated the presence of a soft tissue mass at the T2 level, and biopsy examination of the tissue confirmed that it was a GCT. The patient experienced a sudden loss of consciousness due to an acute episode of obstructive hydrocephalus. A ventriculoperitoneal shunting procedure was performed to treat the hydrocephalus, and the patient regained normal consciousness, although the paraplegia persisted. An MR examination performed 30 months following surgery demonstrated that the tumor size was stable, consistent with the slow growth that is characteristic of GCTs. Diagnosis of GCTs may be challenging, and relies on radiographic and histopathologic findings. Although rare, acute hydrocephalus as a result of GCTs should not be excluded from a differential diagnosis. PMID:26870164

[KAPOSI'S SARCOMA OF THE VULVA].

PubMed

Chokoeva, Aa; Tchernev, G; Wollina, U

2015-01-01

Kaposi's sarcoma represents multiple idiopathic hemorrhagic sarcoma--a mesenchymal tumor that affects the blood and lymph vessels. Its performance is associated with an infection with human herpes virus type 8--the so called KSHV (Kaposi's sarcoma -associated virus), and with the human immunodeficiency virus. Kaposi's sarcoma is considered as a typical clinical manifestation in male homosexuals suffering from acquired immune deficiency syndrome (AIDS), while his performance in HIV-positive women is unusual, with a ratio of men to women--10-15: 1. Vulvar localization is much rarer. It is up to 5 times more frequent in HIV- positive patients. It is clinically represented in most of the cases by the clinical picture of nonspecific tumor mass. Biopsy and further virological testing for establishing KSHV in lesional tissue is essential for confirming the diagnosis. Serological testing for HIV/AIDS in affected patients is required. Local treatment includes surgical excision of solitary lesions, cryotherapy as well as radiotherapy. The use of interferon alpha resulted in complete remission in approximately 40% of the affected patients. New trends in treatment tend to be pathogenetically directed as in the process of studies to date are inhibitors of angiogenesis. Due to the rarity of the occurrence, non-specific clinical picture and histological findings, Kaposi's sarcoma should be considered in the differential diagnosis of tumor masses with vulvar localization, especially in HIV-positive patients.

[Mesectodermal leiomyoma. Unusual tumor of the ciliary body].

PubMed

Rentería-Ruiz, Nancy Paulina; de Wit-Carter, Guillermo; Villaseñor-Diez, Jaime; Flores-Estrada, José Javier; Rodríguez-Reyes, Abelardo Antonio

2014-01-01

Mesectodermal leiomyoma is a benign tumor of smooth muscle of the ciliary body, which is derived from the neural crest. We report the case of a 35-year-old Mexican woman with visually impaired and blurred vision of the right eye of 2 months duration. The clinical and imaging presuntional diagnosis was adenoma of the non pigmented epithelium of the ciliary body and it was surgically resected. Microscopically, the tumor was composed of cells with round nuclei and scant cytoplasm without atypia or mitosis, arranged in a fibrillary background. The immunohistochemical markers for vimentin, muscle specific actin, smooth muscle actin and calponin were strongly positive in the cytoplasm of the neoplastic cells, while for glial fibrillary acidic protein and S-100 protein were negative in the same cellular population. Mesectodermal leiomyoma of the ciliary body is benign tumor of smooth muscle extremely rare in this location. Until now, there are just 25 previous reported cases in the literature and, the main differential diagnosis is uveal malignant melanoma, therefore some eyes were enucleated. The ultrabiomicroscopy, A and B-scan imaging studies are useful in the evaluation, however, is mandatory the microsocpic examination with routine and histochemical stains as well as the use of immunohistochemical markers such as vimentin, specific muscle actin, smooth muscle actin andcalponin to stablish the smooth muscle origin of this neoplasm, and rule out other malignant neoplams such as malignant melanoma.

Clinical review: Current state and future perspectives in the diagnosis of diabetes insipidus: a clinical review.

PubMed

Fenske, Wiebke; Allolio, Bruno

2012-10-01

The differential diagnosis of diabetes insipidus (DI) is often challenging but essential, because treatment may vary substantially. This article analyzes the database and performance of currently used differential diagnostic tests for DI and discusses future perspectives for diagnostic improvement. A review of electronic and print data comprising original and review articles retrieved from the PubMed or Cochrane Library database up to January 2012 was conducted. The search term "polyuria polydipsia syndrome" was cross-referenced with underlying forms of disease and associated clinical, diagnostic, and therapeutic MeSH terms. In addition, references from review articles and textbook chapters were screened for papers containing original data. Search results were narrowed to articles containing primary data with a description of criteria for the differential diagnosis of DI. Fifteen articles on differential diagnosis of DI were identified, mainly consisting of small series of patients, and mostly covering only part of the differential diagnostic spectrum of DI. Test protocols differed, and prospective validation of diagnostic criteria was consistently missing. Inconsistent data were reported on the diagnostic superiority of direct plasma arginine vasopressin determination over the indirect water deprivation test. Both test methods revealed limitations, especially in the differentiation of disorders with a milder phenotype. The available data demonstrate limitations of current biochemical tests for the differential diagnosis of DI, potentially leading to incorrect diagnosis and treatment. The newly available assay for copeptin, the C terminus of the vasopressin precursor, holds promise for a higher diagnostic specificity and simplification of the differential diagnostic protocol in DI.

[Differential chronic hepatitis diagnosis].

PubMed

Hinterberger, W

2000-01-01

Chronic hepatitis comprises a group of disorders of the liver exhibiting a chronic necroinflammatory process that differs in etiology, clinical course and treatment strategies. A diagnosis of chronic hepatitis is usually made when inflammation and liver cell necrosis persist for longer than 6 months. Clinical manifestations range from asymptomatic patients to those with advanced hepatic failure. Both sexes and all age groups are affected. Chronic hepatitis may emerge as a sequelae of hepatitis C and less often after hepatitis B. Both diseases are treatable and require rapid and exact diagnosis. The differential diagnosis must exclude autoimmune hepatitis, chronic steatohepatitis, congenital metabolic hepatopathies and drug-induced hepatopathies. Laboratory tests, histologic investigations and clinical differential diagnosis must exclude other causes of chronic liver disease.

An unusual case of an intramuscular lipoma of the biceps brachii

PubMed Central

Lahrach, Kamal; el Kadi, Khalid Ibn; Mezzani, Amine; Marzouki, Amine; Boutayeb, Fawzi

2013-01-01

Lipomas are common benign neoplasms consisting of mature fatty tissue. They are usually of roundish or ovoid shape and are situated in a single anatomical region. They most frequently occur on the back and in the extremities. Most lipomas are subcutaneous and require no imaging evaluation. When deep, large and unusual in location, MRI can identify and localise these tumours and is the best exploration to differentiate lipoma and lipo-sarcoma. We describe a case of a patient with an intramuscular lipoma of the biceps brachii. PMID:24062869

Multiple spinal metastases from a well-differentiated liposarcoma of the iliac wing: a case report

PubMed Central

Ben Nsir, A; Boubaker, A; Kassar, AZ; Abderrahmen, K; Kchir, N; Jemel, H

2015-01-01

Study design: A case report. Objectives: To report an unusual case of multiple spinal metastases from an undiagnosed well-differentiated liposarcoma (WDLPS) of the iliac wing and to stress the need of a meticulous clinical examination and further screening of patients with chronic and asymptomatic bony lesions. Setting: University of medicine of Monastir, Department of neurological surgery, Fattouma Bourguiba University Hospital, Monastir, Tunisia and University of Medicine of Tunis EL Manar, Department of neurological surgery, Tunisian National Institute of Neurology, Tunis, Tunisia. Methods: A 39-year-old man presented with signs of spinal cord compression for the past 2 weeks. His medical history was consistent for an asymptomatic right iliac wing mass that appeared 3 years ago and for which he has not consulted. Magnetic resonance imaging revealed multiple bony lesions of the thoraco-lumbar spine associated with a 6-cm right paravertebral mass at the T4 level extending posteriorly through the intervertebral foramina to the spinal canal causing major spinal cord compression. An emergent T2–T6 laminectomy allowed for a complete resection of the epidural mass. Pathological examination confirmed the diagnosis of well-differentiated liposarcoma. Adjunctive radiation therapy was administered. Results: The patient’s neurological status improved remarkably under an intensive care and rehabilitation program. He was ambulatory without assistance in the second postoperative week. Conclusion: The case reported in this paper represents a genuine example of the possible metastatic potential of WDLPSs of the bone and underscores the importance of examining patients thoroughly, especially when they have chronic and asymptomatic lesions. PMID:28053711

Papillary squamous cell carcinoma, not otherwise specified (NOS) of the penis: clinicopathologic features, differential diagnosis, and outcome of 35 cases.

PubMed

Chaux, Alcides; Soares, Fernando; Rodríguez, Ingrid; Barreto, José; Lezcano, Cecilia; Torres, José; Velazquez, Elsa F; Cubilla, Antonio L

2010-02-01

There is a group of low-grade papillomatous squamous cell carcinomas (SCC) of the penis, collectively designated as "verruciform," that are difficult to classify. A proposal of classification grouped these tumors in warty (condylomatous), verrucous, and papillary carcinomas. Papillary SCC, not otherwise specified is the third distinctive type of penile low-grade verruciform neoplasms. We are presenting clinicopathologic features of 35 cases from 2 institutions. All specimens were penectomies or circumcisions. Mean age was 57 years. Sites of involvement were glans alone in 18 cases (51%), glans, coronal sulcus and foreskin in 13 cases (37%), glans and sulcus in 3 cases (9%), and foreskin in 1 case (3%). Papillary carcinomas were large (mean 5.6 cm) exophytic low-grade squamous neoplasms with hyperkeratosis and papillomatosis. Papillae were variable in length and shape. The tip was straight, undulated, spiky, or blunt. There was no koilocytosis. The interface between tumor and stroma was characteristically jagged and a moderate stromal reaction was evident in most cases. The majority of the tumors (94%) showed a low-grade histology with focally present poorly differentiated areas in 6% of the cases. The mean thickness of the tumor was 9.4 mm. The most commonly invaded anatomic levels were the corpus spongiosum and/or dartos (77% cases). Corpus cavernosum was invaded in 8 cases (23%). Vascular and perineural invasion were unusual. Frequent associated lesions were squamous hyperplasia, differentiated penile intraepithelial neoplasia, and lichen sclerosus (74%, 46%, and 34%, respectively). Nodal metastases were identified in 3 of 12 patients with bilateral groin dissections. Of the 20 patients followed, 18 were either with no evidence of disease (15 cases) or died from unrelated causes (3 cases). One patient was alive with evidence of systemic metastases and 1 died from disseminated penile cancer 32 months after original penectomy. In conclusion, papillary carcinomas were exophytic albeit, often deeply invasive low-grade neoplasms, with a low rate of nodal metastasis characterized by complex papillae, irregular fibrovascular cores, and jagged tumor base. Papillary SCC should be distinguished from other penile verruciform tumors, including verrucous and variants, warty and papillary basaloid carcinomas, and carcinoma cuniculatum. Helpful morphologic features for differential diagnosis are provided.

Aspergillus spondylitis in immunocompetent patients.

PubMed

Govender, S; Kumar, K P

2001-01-01

Four immunocompetent patients with neurological deficit underwent anterior decompression for Aspergillus osteomyelitis of the spine. All patients improved neurologically following anterior spinal decompression and antifungal therapy. This study emphasizes the importance of obtaining a tissue diagnosis as these unusual infections may mimic tuberculosis, which is more common.

[Giant idiopathic hydronephrosis: toward a two-step therapeutic approach].

PubMed

Boudhaye, Taher Ismail; Sidimalek, Mohamed; Jdoud, Cheikhani

2017-01-01

Giant hydronephrosis is rare. It is usually caused by ureteropelvic junction syndrome. We here report the unusual case of a patient hospitalized with giant hydronephrosis associated with impaired general condition. Diagnosis was based on CT scan. The patient underwent deferred nephrectomy after percutaneous drainage.

Gallstone ileus obstructing within an incarcerated lumbar hernia: an unusual presentation of a rare diagnosis.

PubMed

Ziesmann, Markus Tyler; Alotaiby, Nouf; Al Abbasi, Thamer; Rezende-Neto, Joao B

2014-12-03

We describe an unusual case of a 74-year-old woman who presented with signs and symptoms of small-bowel obstruction and a clinically appreciable, irreducible, left-sided lumbar hernia associated with previous iliac crest bone graft harvesting. Palpation of the hernia demonstrated a small, firm mass within the loops of herniated bowel. CT scanning recognised an intraluminal gallstone at the transition point, establishing the diagnosis of gallstone ileus within an incarcerated lumbar hernia. The proposed explanatory mechanism is that of a gallstone migrating into an easily reducible hernia containing small bowel causing obstruction at the hernia neck by a ball-valve mechanism, resulting in proximal bowel dilation and thus hernia incarceration; it remains unclear when the stone entered the hernia, and whether it enlarged in situ or prior to entering the enteral tract. This is only the second reported instance in the literature of an intraluminal gallstone causing hernia incarceration. 2014 BMJ Publishing Group Ltd.

A New Observation of an Atypical and Severe Variant of the Guillain-Barre Syndrome in a Child

PubMed Central

Manel, Véronique; Ville, Dorothée; Javouhey, Etienne; Bordet, Fabienne

2015-01-01

Guillain-Barré syndrome is a rare acute polyradiculoneuropathy. Several variants and unusual presentations have been described, particularly in pediatrics. In most cases, making an early diagnosis is challenging due to the treatments that consist in the rapid administration of intravenous immunoglobulin or plasma exchange. The authors present the case of a 7-year-old boy with an atypical and severe axonal Guillain-Barré syndrome, associated with Mycoplasma pneumonia. When he was admitted, febrile respiratory failure was the main focus, and then he presented signs of acute polyneuropathy with cranial nerve palsy and brief hyperreflexia. Mechanical ventilation was required for 48 days as well as 2 cycles of intravenous immunoglobulin. The authors describe all the medical challenges that the authors encountered. This case highlights the fact that respiratory distress can be the main clinical symptom in children. This delays the establishment of a correct diagnosis, even more so when neurological manifestations are abundant and unusual. PMID:28503595

Behçet syndrome.

PubMed

Altiner, Ahmet; Mandal, Rajni

2010-11-15

We present a 34-year-old man with a two-year history of aphthous stomatitis, who later developed painful, erythematous nodules on his lower extremities. A pathergy test was positive, and the diagnosis of Behçet syndrome (BS) was made. It is important for the dermatologist to recognize the wide variety of cutaneous manifestations of this disorder. A pathergy test is a simple diagnostic tool that may assist in making a diagnosis. Case reports of other unusual skin manifestations in BS also are reviewed.

Acute neuromuscular weakness in a boy with a facial abscess contaminated with Clostridium botulinum.

PubMed

Olson, Scott C; Bergen, Carly M; Andre-von Arnim, Amelie Saint; D'Angeli, Marisa A; Goldoft, Marcia J; Russell, Denny; Atkins, Robert C

2012-12-01

Wound botulism arising from skin and soft tissue infection is rare in children, most cases being reported in adult intravenous drug users. Cranial nerve palsies are the primary presenting sign, followed by descending neuromuscular weakness. Diagnosis relies on isolation of either toxigenic Clostridium botulinum species or toxin from wound or blood samples. We present an unusual case of wound botulism in a pediatric patient with the intent to inform the reader and improve the time to diagnosis in such cases.

Cross-Sectional Imaging in a Case of Adventitial Cystic Disease of the Popliteal Artery

DOE Office of Scientific and Technical Information (OSTI.GOV)

Ricci, Paolo; Panzetti, Claudio; Mastantuono, Marco

1999-01-15

Adventitial cystic disease of the popliteal artery is an unusual condition of uncertain etiology, in which a mucin-containing cyst forms in the wall of the artery and produces lower extremity claudication, typically in young and middle-aged men. A diagnosis of adventitial cystic disease of the popliteal artery was made preoperatively in a 47-year-old man by means of several imaging modalities, including angiography, magnetic resonance imaging, and ultrasound. The pathological findings confirmed the suggested diagnosis.

[Differential diagnosis of chronic myeloic leucemia in infancy (author's transl)].

PubMed

Binder, C; Pichler, E; Radaskiewicz, T; Scheibenreiter, S

1976-01-01

A 3 months old girl presented with significant enlargement of liver, spleen and lymphnodes, with moderate anemia, thrombopenia and leucocytosis. In the differential count there was a shift to the left and an increase of monocyte-like cells (35%). Differential diagnosis included leucemoid reaction, infectious mononucleosis, myelo-proliferative disorder with a missing C chromosome and chronic myeloid leucemia. Clinical symptoms, cytochemistry and caryotype of bone marrow cells suggested infantile chronic myeloic leucemia and normal ALP index and possibly normal HbF. Treatment with 6-mercaptopurine was followed by partial remission. The therapeutic consequences of exact differential diagnosis are discussed.

Unusual clinical manifestation of pheochromocytoma in a MEN2A patient.

PubMed

Guerrieri, M; Filipponi, S; Arnaldi, G; Giovagnetti, M; Lezoche, E; Mantero, F; Taccaliti, A

2002-01-01

A case of unusual clinical manifestation of pheochromocytoma in a type 2A multiple endocrine neoplasia (MEN2A) patient is presented. A 27-year-old man affected by MEN2A syndrome, complaining of anxiety and depression, was admitted in our Division. Past medical history included a total thyroidectomy for medullary carcinoma in 1985, and left adrenalectomy for pheochromocytoma in 1994. Blood pressure was 130/ 85 mmHg without orthostatic hypotension and pulse rate was 72 beats/min. Laboratory data revealed thyroid hormones and carcinoembryonic antigen (CEA) in the normal range and high basal serum calcitonin levels (158 pg/ml). Plasma catecholamines and vanillylmandelic acid resulted in normal levels but epinephrine/norepinephrine ratio was elevated (0.65). The glucagon stimulation test showed positive clinical and biochemical response. Magnetic resonance imaging (MRI) and meta-iodobenzylguanidine (MIBG) scintiscan confirmed the presence of bilateral adrenal masses. Bilateral adrenalectomy by laparoscopic anterior approach was performed. Histology was consistent with adrenal pheochromocytomas. After surgical approach, psychiatric findings disappeared and did not recur at follow-up in spite of no medication for two years. In conclusion, bilateral pheochromocytoma is more frequent in MEN2A syndrome and probably understimated if the follow-up is not prolonged. In these cases clinical features are often aspecific and basal hormonal data may be normal in a great number of patients. Therefore long-term observation is justified in these patients. Pheochromocytoma was described as the "great mimic" for the numerous subjective manifestations. Differential diagnosis among typical features of neuropsychiatric disorders and pheochromocytoma must be considered.

Event-related potential correlates of paranormal ideation and unusual experiences.

PubMed

Sumich, Alex; Kumari, Veena; Gordon, Evian; Tunstall, Nigel; Brammer, Michael

2008-01-01

Separate dimensions of schizotypy have been differentially associated with electrophysiological measures of brain function, and further shown to be modified by sex/gender. We investigated event-related potential (ERP) correlates of two subdimensions of positive schizotypy, paranormal ideation (PI) and unusual experiences (UEs). Seventy-two individuals with no psychiatric diagnosis (men=36) completed self-report measures of UE and PI and performed an auditory oddball task. Average scores for N100, N200 and P300 amplitudes were calculated for left and right anterior, central and posterior electrode sites. Multiple linear regression was used to examine the relationships between the measures of schizotypy and ERPs across the entire sample, as well as separately according to sex. PI was inversely associated with P300 amplitude at left-central sites across the entire sample, and at right-anterior electrodes in women only. Right-anterior P300 and right-posterior N100 amplitudes were negatively associated with UE in women only. Across the entire sample, UE was negatively associated with left-central N100 amplitude, and positively associated with left-anterior N200 amplitude. These results provide support from electrophysiological measures for the fractionation of the positive dimension of schizotypy into subdimensions of PI and UE, and lend indirect support to dimensional or quasidimensional conceptions of psychosis. More specifically, they suggest that PI may be associated with alteration in contextual updating processes, and that UE may reflect altered sensory/early-attention (N100) mechanisms. The sex differences observed are consistent with those previously observed in individuals with schizophrenia.

[Generalized tendomyopathy (fibromyalgia): differential diagnosis, therapy and prognosis].

PubMed

Schmidt, K L

1991-08-01

The generalised tendomyopathy is one of the most variegated and fascinating disease of man. The unusual constellation and combination of symptoms constrain to the differential-diagnostic demarcation of a great number of rheumatic and non-rheumatic diseases. While the rheumatic polymyalgia and myositis are easily to be demarcated, the decision between a primary and secondary generalised tendomyopathy can be difficult. In individual cases a classical tendomyopathy can be accompanied by antinuclear factors and then it is at the earliest a "collagenosis the state of waiting". The therapy of tendomyopathy is altogether unsatisfactory. All forms of therapy (medicamentous, physical, psychotherapy) help at the utmost in 50%. Surprisingly, on the part of the medicaments the non-steroidal antiphlogistic drugs and the glucocorticoids in most cases completely fail, and also the physical therapy is frequently not tolerated and/or has only a short duration of effect. The more important are the influence on possible evoking factors, the optimization of the social background and the utilization of the possibilities of the "secondary prevention" (balneotherapy in a health resort, sauna bath, Kneipp's applications, change of the living and working conditions, easy sports activities). Since the disease is frequent, but not yet known in general, it should be made better acquainted among the physicians. The generalised tendomyopathy is and remains a cardinal problem not only of rheumatology, but of the physician's working-day in general.

Disseminated tuberculosis presenting as tuberculous peritonitis and sepsis tuberculosa gravissima in a patient with cirrhosis of the liver: A diagnosis of challenge.

PubMed

Lee, Chun-Yuan; Tsai, Hung-Chin; Lee, Susan Shin-Jung; Sy, ChengLen; Chen, Yao-Shen

2016-08-01

We report the case of an 81-year-old man diagnosed with liver cirrhosis complicated by spontaneous bacterial peritonitis and septic shock. Mycobacterium tuberculosis complex was isolated from the ascites, sputum, and blood culture 1 month after the patient died. Clinicians should be aware of the unusual diagnosis of sepsis tuberculosa gravissima presenting with tuberculous peritonitis, which is easily misdiagnosed as spontaneous bacterial peritonitis and Gram-negative bacillus sepsis in patients with cirrhosis. Clinicians should cautiously evaluate the patient's sputum, gastric contents, urine, cerebrospinal fluid, and bone marrow for early diagnosis of disseminated tuberculosis in patients with a high degree of suspicion of this diagnosis. Copyright © 2014. Published by Elsevier B.V.

Atypical distribution of fowl pox lesions in broilers.

PubMed

Sentíes-Cué, C G; Charlton, B R; Woolcock, P; Bickford, A A; Cooper, G; Bland, M

2010-12-01

An unusual cutaneous fowl pox outbreak occurred in 8-wk-old broilers in California. Rounded and longitudinal, proliferative scratch-associated lesions were found only in feathered areas of the body. Both sides of the hip, the lower abdomen, pericloacal area, and lateral lower neck area were involved. The head, legs, feet, and toes did not have lesions. Birds in only one section of one of five houses were affected. Fifteen percent condemnations occurred in birds from the affected house due to the skin lesions. A diagnosis of fowl pox was achieved by histopathology, viral isolation, and direct electron microscopy. The unusual distribution of pox lesions was assumed to be associated with skin scratches. There was no evidence that mosquitoes or other types of insects were involved in this outbreak. To the knowledge of the authors, this is the first report of this kind of unusual fowl pox in the United States.

A solitary bronchial papilloma with unusual endoscopic presentation: case study and literature review

PubMed Central

Paganin, Fabrice; Prevot, Martine; Noel, Jean Baptiste; Frejeville, Marie; Arvin-Berod, Claude; Bourdin, Arnaud

2009-01-01

Background Solitary endobronchial papillomas (SEP) are rare tumors and most of them are described by case report. A misdiagnosis is common with viral related papillomas. A histopathological classification has recently permitted a major advancement in the understanding of the disease. Case Presentation We report a case of a mixed bronchial papilloma with an unusual endoscopic presentation. The literature was extensively reviewed to ascertain the unusual characteristics of the current case. A 39-year of age male was referred to our institution for the investigation of a slight hemoptysis. Routine examination was normal. A fibroscopy revealed an unusual feature of the right main bronchus. The lesion was a plane, non-bleeding, non-glistering sub-mucosal proliferation. No enhanced coloration was noticed. Biopsies revealed a mixed solitary bronchial papilloma. In situ HPV hybridization was negative. Endoscopic treatment (electrocautery) was effective with no relapse. Conclusion This lesion contrasts with the data of the literature where papilloma were described as wart-like lesions or cauliflower tumors, with symptoms generally related to bronchial obstruction. We advise chest physicians to be cautious with unusually small swollen lesions of the bronchi that may reveal a solitary bronchial papilloma. Endoscopic imaging can significantly contribute to the difficult diagnosis of SEP by pulmonary physicians and endoscopists. PMID:19689808

CD5+ true SLL/CLL with plasmacytic differentiation and an unusual 1p36 translocation: case report and review of the literature.

PubMed

Evans, H L; Polski, J M; Deshpande, V; Dunphy, C H

2000-11-01

Lymphoplasmacytic lymphoma (LPL) and small lymphocytic lymphoma/chronic lymphocytic leukemia (SLL/CLL)are distinct clinicopathologic entities. Although some cases of SLL/CLL may show plasmacytic differentiation and be associated with monoclonal immunoglobulin in serum, such cases appear to be very rare, and if plasma cell differentiation were marked, differentiation of SLL/CLL from LPL could be difficult. We report a rare case of true CD5-positive small lymphocytic lymphoma/chronic lymphocytic leukemia with unequivocal plasmacytic differentiation. This case also showed an abnormality of chromosome 1p36 not previously described in small lymphocytic lymphoma/chronic lymphocytic leukemia.

Melioidosis Imported from West Africa to Europe

PubMed Central

Cuadros, Juan; Gil, Horacio; Miguel, Julio De; Marabé, Graciela; Gómez-Herruz, Teresa Arroyo Peña; Lobo, Bruno; Marcos, Ruth; Anda, Pedro

2011-01-01

We report the first case of imported melioidosis in Spain from a diabetic immigrant who visited West Africa during the rainy season. Because of the unusual presentation of this disease in Africa, clinical and microbiological diagnosis of imported melioidosis from this continent can be very elusive. PMID:21813848

Childhood pemphigus foliaceus. Report of a case.

PubMed

Sotiriou, L; Herszenson, S; Jordon, R E

1980-06-01

A case is reported of a 4-year-old black boy with pemphigus foliaceus. The patient is unusual because of age, sex, race, and distribution of lesions, Confirmation of diagnosis was made by both routine histopathology and direct immunofluorescence microscopy. The patient responded rapidly to prednisone therapy.

[Initial diagnosis of Parkinson's disease - neuroradiological diagnosis].

PubMed

Orimo, Satoshi

2013-01-01

Brain MRI is essential for differentiating Parkinson's disease (PD) from other parkinsonian syndromes. The purpose of performing brain MRI is not to make a diagnosis of PD but is to exclude other parkinsonian syndromes. Recently, several new MRI techniques such as voxel based morphometry, relaxometry, magnetization transfer, spectroscopy, tractography, and functional MRI have been introduced in the diagnosis of PD. Neuromelanin imaging is one of the new techniques and can be useful to make an initial diagnosis of PD. MIBG myocardial scintigraphy is a sensitive imaging tool to differentiate PD from other parkinsonian syndromes and is one of the good tools to make an initial diagnosis of PD. Brain perfusion imaging is sometimes useful to make an initial diagnosis of PD, because reduced brain perfusion area can be detected before brain MRI detects morphological changes of the brain. Dopamine transporter imaging, not available in Japan, is a sensitive tool to detect very early parkinsonism and is useful to make an initial diagnosis of PD. However, it is difficult to differentiate PD from other parkinsonian syndromes.

Differential diagnosis of atypical lipomatous tumor/well-differentiated liposarcoma and dedifferentiated liposarcoma: utility of p16 in combination with MDM2 and CDK4 immunohistochemistry.

PubMed

Kammerer-Jacquet, Solène-Florence; Thierry, Sixte; Cabillic, Florian; Lannes, Morgane; Burtin, Florence; Henno, Sébastien; Dugay, Frédéric; Bouzillé, Guillaume; Rioux-Leclercq, Nathalie; Belaud-Rotureau, Marc-Antoine; Stock, Nathalie

2017-01-01

The differential diagnosis between atypical lipomatous tumor/well-differentiated liposarcoma (ALT/WDLPS) and dedifferentiated liposarcoma (DDLPS) from their morphologic counterparts is challenging. Currently, the diagnosis is guided by MDM2 and CDK4 immunohistochemistry (IHC) and is confirmed by the amplification of the corresponding genes. Recently, p16 IHC has been proposed as a useful diagnostic biomarker. The objective was to assess the utility of p16 IHC in the differential diagnosis of ALT/WDLPS and DDLPS. Our series included 101 tumors that were previously analyzed using fluorescence in situ hybridization for MDM2 and CDK4 amplification. We compared sensitivity and specificity of p16 IHC to MDM2 and CDK4 IHC in the differential diagnosis of ALT-WDLPS (n=19) versus benign adipocytic tumors (n=44) and DDLPS (n=18) versus mimicking sarcomas (n=20). In the differential diagnosis of ALT-WDLPS, p16 had a sensitivity of 89.5% but a specificity of 68.2%, which was impaired by false-positive lipomas with secondary changes, especially in biopsies. Likewise, in the differential diagnosis of DDLPS, p16 had a sensitivity of 94.4% and a specificity of 70%, which hampered its use as a single marker. However, adding p16 to MDM2 and/or CDK4 increased diagnostic specificity. Indeed, MDM2+/p16+ tumors were all ALT-WDLPS, and MDM2-/p16- tumors were all benign adipocytic tumors. Moreover, all MDM2+/CDK4+/p16+ tumors were DDLPS, and the MDM2-/CDK4-/p16- tumor was an undifferentiated sarcoma. Although the use of p16 as a single immunohistochemical marker is limited by its specificity, its combination with MDM2 and CDK4 IHC may help discriminate ALT-WDLPS/DDLPS. Copyright © 2016 Elsevier Inc. All rights reserved.

Diagnosis and Differential Diagnosis of Hydrocephalus in Adults.

PubMed

Langner, Sönke; Fleck, Steffen; Baldauf, Jörg; Mensel, Birger; Kühn, Jens Peter; Kirsch, Michael

2017-08-01

Purpose  Hydrocephalus is caused by an imbalance of production and absorption of cerebrospinal fluid (CSF) or obstruction of its pathways, resulting in ventricular dilatation and increased intracranial pressure. Imaging plays a crucial role in the diagnosis, differential diagnosis and planning of treatment. Methods  This review article presents the different types of hydrocephalus und their typical imaging appearance, describes imaging techniques, and discusses differential diagnoses of the different forms of hydrocephalus. Results and Conclusion  Imaging plays a central role in the diagnosis of hydrocephalus. While magnetic resonance (MR) imaging is the first-line imaging modality, computed tomography (CT) is often the first-line imaging test in emergency patients. Key points   · Occlusive hydrocephalus is caused by obstruction of CSF pathways.. · Malabsorptive hydrocephalus is caused by impaired CSF absorption.. · The MR imaging protocol should always include sagittal high-resolution T2-weighted images.. · When an inflammatory etiology is suspected, imaging with contrast agent administration is necessary.. Citation Format · Langner S, Fleck S, Baldauf J et al. Diagnosis and Differential Diagnosis of Hydrocephalus in Adults. Fortschr Röntgenstr 2017; 189: 728 - 739. © Georg Thieme Verlag KG Stuttgart · New York.

Added Diagnostic Value of Cerebrospinal Fluid Biomarkers for Differential Dementia Diagnosis in an Autopsy-Confirmed Cohort.

PubMed

Niemantsverdriet, Ellis; Feyen, Bart F E; Le Bastard, Nathalie; Martin, Jean-Jacques; Goeman, Johan; De Deyn, Peter Paul; Bjerke, Maria; Engelborghs, Sebastiaan

2018-01-01

Differential dementia diagnosis remains a challenge due to overlap of clinical profiles, which often results in diagnostic doubt. Determine the added diagnostic value of cerebrospinal fluid (CSF) biomarkers for differential dementia diagnosis as compared to autopsy-confirmed diagnosis. Seventy-one dementia patients with autopsy-confirmed diagnoses were included in this study. All neuropathological diagnoses were established according to standard neuropathological criteria and consisted of Alzheimer's disease (AD) or other dementias (NONAD). CSF levels of Aβ1 - 42, T-tau, and P-tau181 were determined and interpreted based on the IWG-2 and NIA-AA criteria, separately. A panel of three neurologists experienced with dementia made clinical consensus dementia diagnoses. Clinical and CSF biomarker diagnoses were compared to the autopsy-confirmed diagnoses. Forty-two patients (59%) had autopsy-confirmed AD, whereas 29 patients (41%) had autopsy-confirmed NONAD. Of the 24 patients with an ambiguous clinical dementia diagnosis, a correct diagnosis would have been established in 67% of the cases applying CSF biomarkers in the context of the IWG-2 or the NIA-AA criteria respectively. AD CSF biomarkers have an added diagnostic value in differential dementia diagnosis and can help establishing a correct dementia diagnosis in case of ambiguous clinical dementia diagnoses.

Imaging diagnosis--Complex intrahepatic portosystemic shunt in a dog.

PubMed

D'Anjou, Marc-André; Huneault, Louis

2008-01-01

An unusual form of congenital intrahepatic portosystemic shunt was identified in a 3 1/2-month-old female Labrador Retriever with neurologic signs. Ultrasonography and contrast-enhanced computed tomography were used to characterize the shunt morphology. An unusual, looping right-divisional shunt connected back to the portal vein that formed an ampula in the right-central portion of the liver. An irregularly shaped window-like opening connected the combined right-divisional loop and aneurysmal portal vein, and the caudal vena cava, while this vascular pool gradually fused more cranially. Imaging features of this complex vascular anomaly, which has not been previously reported, are presented.

Thyroid tuberculosis: presenting symptom of mediastinal tuberculous lymphadenitis--an unusual case.

PubMed

Chandanwale, Shirish S; Buch, Archana C; Vimal, Shruti S; Sachdeva, Punita

2014-01-01

Tuberculosis of thyroid gland is extremely rare. It spreads to thyroid by lymphogenous or heamatogenous route or from adjacent focus, either from larynx or cervical and mediastinal adenitis. We report an unusual case of a 33-year-old male with thyroid swelling. Fine needle aspiration (FNA) smears showed epithelioid cells without necrosis and acid fast bacilli (AFB). Subsequent investigation revealed mediastinal tuberculous lymphadenitis on Computerized Tomography (CT) scan. FNA confirmed the diagnosis of mediastinal tuberculous lymphadenitis. We conclude, when epithelioid cells are seen on FNA thyroid, tuberculosis must be ruled out especially in regions where there is high prevalence of tuberculosis.

A painful pulsatile abdominal mass in a young man with elevated blood pressures: an unusual presentation of phaeochromocytoma.

PubMed

Lee, B M K; Ti, L K

2002-08-01

We report an unusual presentation of phaeochromocytoma in a young man with a painful, pulsatile abdominal mass and elevated blood pressures. This led to a delay in diagnosis and resulted in the administration of triggers of catecholamine release, possibly causing a catecholamine surge. This caused the development of catecholamine-induced cardiomyopathy and multiple organ failure, requiring inotropic and ventilatory support, intra-aortic balloon pump and dialysis. Fortunately, his condition reversed with supportive treatment and alpha-adrenergic blockade. This illustrates the importance of having a high index of suspicion of phaeochromocytoma, especially in young patients with elevated blood pressures.

Sporotrichosis in an unusual location--Case report.

PubMed

Reis, Brisa Dondoni; Cobucci, Fernanda Oliveira; Zacaron, Luciana Helena; D'Acri, Antonio Macedo; Lima, Ricardo Barbosa; Martins, Carlos José

2015-01-01

Sporotrichosis is the most common subcutaneous mycosis. It is caused by the dimorphic fungus Sporothrix schenckii, and the infection is usually acquired by traumatic inoculation. We describe a case of sporotrichosis in an uncommon location with an unusual mode of transmission. A 49-year-old female patient who lived in an urban area of Rio de Janeiro presented with involvement of the left ear. No history of contact with soil, plants or animals was elicited. The suspected source of infection was a pair of handmade wooden earrings. The delay in the diagnosis and treatment resulted in higher morbidity, unsightly scarring and loss of ear lobe.

Sporotrichosis in an unusual location - Case report*

PubMed Central

Reis, Brisa Dondoni; Cobucci, Fernanda Oliveira; Zacaron, Luciana Helena; D'Acri, Antonio Macedo; Lima, Ricardo Barbosa; Martins, Carlos José

2015-01-01

Sporotrichosis is the most common subcutaneous mycosis. It is caused by the dimorphic fungus Sporothrix schenckii, and the infection is usually acquired by traumatic inoculation. We describe a case of sporotrichosis in an uncommon location with an unusual mode of transmission. A 49-year-old female patient who lived in an urban area of Rio de Janeiro presented with involvement of the left ear. No history of contact with soil, plants or animals was elicited. The suspected source of infection was a pair of handmade wooden earrings. The delay in the diagnosis and treatment resulted in higher morbidity, unsightly scarring and loss of ear lobe. PMID:26312682

Assessment and Differential Diagnosis of Comorbid Conditions in Adolescents and Adults with Autism Spectrum Disorders

ERIC Educational Resources Information Center

Trammell, Beth; Wilczynski, Susan M.; Dale, Brittany; Mcintosh, David E.

2013-01-01

Successful treatment of individuals with autism spectrum disorders (ASD) is entirely contingent on an accurate diagnosis. Although many resources exist to help the clinician with differential diagnosis of children, particularly in early childhood, the resources available for evaluating adolescents and adults is far less prevalent. Clinicians often…

[Geniculate hemianopia. Diagnostic importance of retinal nerve fiber layer analysis using optical coherence tomography: case report].

PubMed

Moura, Frederico Castelo; Lunardelli, Patrícia; Leite, Cláudia Costa; Monteiro, Mário Luiz Ribeiro

2005-01-01

Lesions of the lateral geniculate body (LGB) are the most unusual lesions of the visual pathways. Imaging studies are very important in establishing the correct diagnosis. However, due to its small size and particular location, the lateral geniculate body and its lesions are sometimes difficult to detect in imaging studies possibly causing diagnostic confusion. The purpose of this paper is to document an unusual case of a lesion of the lateral geniculate body for which an optical coherence tomography study was very important in confirming the anatomic diagnosis of a lateral geniculate body lesion. A 39-year-old woman with a previous diagnosis of uveitis and central nervous system vasculitis was referred for investigation of a right temporal quadrantanopia. She had already been submitted to a magnetic resonance imaging (MRI) that did not show any lesion along the visual pathway. Ophthalmoscopy revealed retinal nerve fiber layer (RNFL) loss that was confirmed by optical coherence tomography. Such finding associated with the observations on the neurological examination strongly suggested a lateral geniculate body lesion. The patient was submitted to another new magnetic resonance imaging obtained with especially oriented thin sections and an ischemic lesion of the lateral geniculate body was observed establishing the correct diagnosis. This case serves to confirm the importance of optical coherence tomography in determining the pattern of retinal nerve fiber layer loss in neuro-ophthalmic diseases and therefore to help in locating a lesion along the visual pathway.

Broad Ligament Perivascular Epithelioid Cell Tumor (PEComa) of Uncertain Malignant Potential.

PubMed

Mathew, Mary; Nayal, Bhavna; Rao, Lakshmi; Nagel, Bhawna

2016-01-01

PEComas are uncommon mesenchymal tumors often involving the pelvic organs. They have an unpredictable behavior. Accurate diagnosis and long-term follow-up is therefore essential in these patients. We report this case of PEComa of uncertain malignant potential in an unusual location with excellent prognosis.

Imported Cutaneous Diphtheria, United Kingdom

PubMed Central

de Benoist, Anne-Claire; White, Joanne Margaret; Efstratiou, Androulla; Kelly, Carole; Mann, Ginder; Nazareth, Bernadette; Irish, Charles James; Kumar, Deepti

2004-01-01

Cutaneous diphtheria is endemic in tropical countries but unusual in the United Kingdom. Four cases occurred in the United Kingdom within 2 months in 2002. Because cutaneous diphtheria causes outbreaks of both cutaneous and pharyngeal forms, early diagnosis is essential for implementing control measures; high diphtheria vaccination coverage must also be maintained. PMID:15109425

Bipolar Disorder.

ERIC Educational Resources Information Center

Spearing, Melissa

Bipolar disorder, a brain disorder that causes unusual shifts in a person's mood, affects approximately one percent of the population. It commonly occurs in late adolescence and is often unrecognized. The diagnosis of bipolar disorder is made on the basis of symptoms, course of illness, and when possible, family history. Thoughts of suicide are…

Symptomatic Acute Toxoplasmosis in Returning Travelers

PubMed Central

Henao-Martínez, Andrés F; Franco-Paredes, Carlos; Palestine, Alan G; Montoya, Jose G

2018-01-01

Abstract We report a family who acquired acute toxoplasmosis after a trip to Central America. One member developed severe clinical manifestations including bilateral chorioretinitis, hepatitis, and myocarditis requiring therapy. Symptomatic acute toxoplasmosis is unusual and possesses a diagnostic challenge. We discuss the clinical and epidemiological implications, laboratory diagnosis, and treatment plan. PMID:29644250

Unusual association of SCN2A epileptic encephalopathy with severe cortical dysplasia detected by prenatal MRI.

PubMed

Bernardo, Silvia; Marchionni, Enrica; Prudente, Sabrina; De Liso, Paola; Spalice, Alberto; Giancotti, Antonella; Manganaro, Lucia; Pizzuti, Antonio

2017-05-01

We present an atypical association of SCN2A epileptic encephalopathy with severe cortical dysplasia. SCN2A mutations are associated with epileptic syndromes from benign to extremely severe in absence of such macroscopic brain findings. Prenatal MRI (Magnetic Resonance Imaging) in a 32 weeks fetus, with US (Ultrasonography) diagnosis of isolated ventriculomegaly showed CNS (Central Nervous System) dysplasia characterized by lack of differentiation between cortical and subcortical layers, pachygyria and corpus callosum dysgenesis. Postnatal MRI confirmed the prenatal findings. On day 6 the baby presented a focal status epilepticus, partially controlled by phenobarbital, phenytoin, and levetiracetam. After three weeks a moderate improvement in seizure control has been achieved with carbamazepine. Exome sequencing detected a de novo heterozygous mutation in the SCN2A gene, encoding the α II -subunit of a sodium channel. The patient findings expand the phenotype spectrum of SCN2A mutations to epileptic encephalopathies with macroscopic brain developmental features. Copyright © 2017 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

Klebsiella pneumoniae necrotizing fasciitis of the leg in an elderly French woman.

PubMed

Monié, Marguerite; Drieux, Laurence; Nzili, Bernadette; Dicko, Michèle; Goursot, Catherine; Greffard, Sandrine; Decré, Dominique; Mézière, Anthony

2014-01-01

Klebsiella pneumoniae necrotizing fasciitis is a rare infection in regions outside of Asia. Here, we present a case of necrotizing fasciitis of the leg caused by K. pneumoniae in a 92-year-old French woman hospitalized in a geriatric rehabilitation unit. The patient initially presented with dermohypodermitis of the leg that developed from a dirty wound following a fall. A few hours later, this painful injury extended to the entire lower limb, with purplish discoloration of the skin, bullae, and necrosis. Septic shock rapidly appeared and the patient died 9 hours after the onset of symptoms. The patient was Caucasian, with no history of travel to Asia or any underlying disease. Computed tomography revealed no infectious metastatic loci. Blood cultures showed growth of capsular serotype K2 K. pneumoniae strains with virulence factors RmpA, yersiniabactin and aerobactin. This rare and fatal case of necrotizing fasciitis caused by a virulent strain of K. pneumoniae occurred in a hospitalized elderly woman without risk factors. Clinicians and geriatricians in particular should be aware of this important albeit unusual differential diagnosis.

Dural cavernous sinus fistula: an unusual presentation.

PubMed Central

Procope, J. A.; Kidwell, E. D.; Copeland, R. A.; Perry, A. F.

1994-01-01

This article describes a 22-year-old man who presented to the Howard University Hospital emergency room with acute onset of swelling, proptosis, and decreased vision in the right eye preceded by 24 hours of nausea and vomiting. The patient's visual acuity was count fingers in the involved eye with marked proptosis and limitation of ocular motility. There was no history given of any ocular or head trauma. A computed tomography scan of the orbits showed diffuse symmetric enlargement of the extraocular muscles of the right eye, felt to be consistent with an orbital inflammatory pseudotumor. The patient was treated with intravenous steroids initially, then placed on oral prednisone. After minimal improvement on the steroids, a selective external carotid angiogram showed a moderate-sized dural cavernous sinus fistula. The patient underwent selective embolization of the fistula with rapid resolution of periorbital edema and proptosis. Visual acuity was stabilized at 20/200 in the right eye. The differential diagnosis and pathogenesis of carotid cavernous sinus fistulas and the likely pathogenesis of the fistula in this case are discussed. Images Figure 1 Figure 2 Figure 3 PMID:8046763

An Abnormal Bone Lesion of the Scapula in a Collegiate Basketball Player: A Case Report

PubMed Central

O'Brien, Matthew S.; Donnell, Allison; Miller, Jason; Iven, Val Gene; Pascale, Mark

2013-01-01

Objective: To present the case of a bone lesion of the scapula in a collegiate basketball player. Background: A 19-year-old National Collegiate Athletic Association Division I male basketball player presented with pain in the posterior region of the right shoulder. During practice, he was performing a layup when his arm was forced into hyperflexion by a defender. Evaluation revealed a bone lesion involving the scapular spine and base of the acromion. Differential Diagnosis: Acromioclavicular joint sprain, subacromial bursitis, subscapular bursitis, humeral head contusion, acromial fracture. Treatment: The patient was treated for 2 months with therapeutic modalities and rehabilitation exercises. Because of persistent pain and the risk of a pathologic fracture, open surgical biopsy and bone grafting were then undertaken. Uniqueness: Most simple bone cysts affect the proximal humerus and femur, whereas our patient's lesion was in the acromial complex. Conclusions: Athletic trainers should be alert to the unusual possibility of bone cysts, which are usually identified incidentally when radiographs are obtained for other reasons. Most simple bone cysts are asymptomatic, but a pathologic fracture can occur with trauma. PMID:23725460

Cutaneous myeloid sarcoma of the penile foreskin.

PubMed

Afrose, Ruquiya; Nebhnani, Deepa; Wadhwa, Neelam

2015-01-01

Myeloid sarcoma, considered to herald the onset of a blast crisis in the setting of chronic myeloproliferative neoplasm/dysplasia, typically presents during the course of the disorder. Cutaneous involvement is uncommon and lesions on genital skin are seldom seen. We present a case of a well-differentiated myeloid sarcoma in the penile foreskin in an apparently healthy 29-year-old male presenting with phimosis. The unusual composition of the inflammatory cell infiltrate, and characteristic sparing of dermal blood vessels, nerves and smooth muscle fibres led to the correct diagnosis. Absence of commonly observed changes in the circumcision skin like those of balanitis xerotica was also helpful. Detailed hematological work up revealed a previously undiagnosed chronic myeloid leukemia in chronic phase. The patient also had simultaneous priapism, another rare presentation of chronic myeloid leukemia. One year hence, the patient is in hematological remission with no evidence of extramedullary disease. Although priapism has been described as a rare presenting symptom in chronic myeloid leukemia, the present case is unique as this is the first time a cutaneous myeloid sarcoma has been documented in the penile foreskin.

Proximal-Type Epithelioid Sarcoma: Report of an Unusual Case in the Uterine Cervix.

PubMed

Suárez-Zamora, David Alfonso; Barrera-Herrera, Luis Eduardo; Rodríguez-Urrego, Paula Andrea; Palau-Lázaro, Mauricio Alfonso

2017-08-01

Epithelioid sarcoma is a rare malignant mesenchymal neoplasm (less than 1% of all sarcomas) with epithelioid morphology. Among the 2 subtypes, proximal represents only one-third of cases and commonly involves deep tissues of pelvic region, including the perineum, genital area, and groin, and occurs more frequently in older patients who present a more aggressive course. In the female genital tract, proximal-type epithelioid sarcoma (PES) mainly affects the vulva and is extremely uncommon in the uterus. To our knowledge, only a few cases of PES involving the cervix and uterine body have been previously reported in the literature. We report a 23-year-old woman who presented with abnormal vaginal bleeding. She was found to have a cervical mass, which was resected and diagnosed as a hemangioendothelioma. However, 2 months later, the mass recurred and the histopathological analysis at our institution demonstrated a PES confined to the uterine cervix. It is important to include this neoplasm in the differential diagnosis of epithelioid tumors that can involve the female genital tract because it has a significant impact on prognosis and treatment.

Primary Ewing's sarcoma of vulva: a case report and a review of the literature.

PubMed

Che, Shao-Min; Cao, Pei-Long; Chen, Hong-Wei; Liu, Zi; Meng, Du

2013-03-01

Ewing sarcomas/peripheral primitive neuroectodermal tumors (ES/pPNET) are extremely rare in the vulva. A review of the literature reveals only 14 previously reported possible cases. Here we reported a case of primary extraskeletal Ewing's sarcoma (EES) of the vulva in a 37-year-old woman. Characteristic histologic features of ES/pPNET were present in this case, including a monomorphic population of small round blue cells with cytoplasmic glycogen confirmed by periodic acid-Schiff, membrane staining with CD99 and nuclear staining with FLI-1. After surgery, the patient was found to have pulmonary metastasis and then received six cycles of polychemotherapy. She is still alive with stable disease after 1 year of follow up. Our findings underline the crucial role of immunohistochemical techniques in the differential diagnosis of small round cell tumors in these unusual locations. We also give a summary about the clinical and pathological features of the primary ES/pPNET in the vulva reported previously in the literature. © 2012 The Authors. Journal of Obstetrics and Gynaecology Research © 2012 Japan Society of Obstetrics and Gynecology.

Mullerian papilloma-like proliferation arising in cystic pelvic endosalpingiosis.

PubMed

McCluggage, W Glenn; O'Rourke, Declan; McElhenney, Clodagh; Crooks, Michael

2002-09-01

This report describes an unusual epithelial proliferation occurring in pelvic cystic endosalpingiosis. A cyst mass lined by a layer of ciliated epithelial cells involved the posterior surface of the cervix and vagina. The epithelial proliferation within the wall resembled a mullerian papilloma with fibrous and fibrovascular cores lined by bland cuboidal epithelial cells. Other areas had a microglandular growth pattern resembling cervical microglandular hyperplasia, and focally there was a solid growth pattern. Foci of typical endosalpingiosis involved the surface of both ovaries and pelvic soft tissues. The cystic lesion recurred after partial cystectomy and drainage and was followed up radiologically and with periodic fine-needle aspiration. Part of the wall of the cyst removed 11 years after the original surgery showed an identical epithelial proliferation. MIB1 staining showed a proliferation index of less than 5%, contrasting with the higher proliferation index of a typical serous borderline tumor. The differential diagnosis is discussed. As far as we are aware, this is the first report of such a benign epithelial proliferation involving cystic endosalpingiosis. Copyright 2002, Elsevier Science (USA). All rights reserved.

Specific and social fears in children and adolescents: separating normative fears from problem indicators and phobias.

PubMed

Laporte, Paola P; Pan, Pedro M; Hoffmann, Mauricio S; Wakschlag, Lauren S; Rohde, Luis A; Miguel, Euripedes C; Pine, Daniel S; Manfro, Gisele G; Salum, Giovanni A

2017-01-01

To distinguish normative fears from problematic fears and phobias. We investigated 2,512 children and adolescents from a large community school-based study, the High Risk Study for Psychiatric Disorders. Parent reports of 18 fears and psychiatric diagnosis were investigated. We used two analytical approaches: confirmatory factor analysis (CFA)/item response theory (IRT) and nonparametric receiver operating characteristic (ROC) curve. According to IRT and ROC analyses, social fears are more likely to indicate problems and phobias than specific fears. Most specific fears were normative when mild; all specific fears indicate problems when pervasive. In addition, the situational fear of toilets and people who look unusual were highly indicative of specific phobia. Among social fears, those not restricted to performance and fear of writing in front of others indicate problems when mild. All social fears indicate problems and are highly indicative of social phobia when pervasive. These preliminary findings provide guidance for clinicians and researchers to determine the boundaries that separate normative fears from problem indicators in children and adolescents, and indicate a differential severity threshold for specific and social fears.

[Familial hypercalcemia and hypophosphatemia: importance in differential diagnosis of disorders in calcium-phosphate metabolism].

PubMed

Zofková, I

2010-05-01

Hypercalcemia and hypophosphatemia are symptoms of two relatively rare hereditary diseases and are extraordinarily important from the standpoint of the differential diagnosis. Mutation in calcium sensing receptor gene (CaSR) clinically manifests as familial hypocalciuric hypercalcemia (FHH) or as the much more serious neonatal hyperparathyreosis. Hypercalciuric hypocalcemia is extremely rare. Prognosis for the most frequent mutations in the CaSR gene FHH is considered benign; nevertheless, if overlooked it can lead to an incorrect diagnosis of primary hyperparathyreosis, which has a fundamentally different prognosis and treatment. Familial hypophosphatemia sometimes occurs as hereditary rickets, which is a consequence of insufficient production of vitamin D-hormone or abnormal function of vitamin D receptors (VDR). The disease manifests as X-linked dominant hypophosphatemic rickets or autosomal dominant hypophosphatemic rickets. Autosomal recessive form is very rare. Oncogenic hypophosphatemia should be excluded in differential diagnosis. In this review the issues of pathogenesis, differential diagnosis and treatment of FHH and hypophosphatemic rickets are discussed.

Spuriously high androstendione concentrations due to assay interference as a cause of diagnostic conundrum in women with oligomenorrhoea.

PubMed

Lewandowski, Krzysztof C; Grotowski, Waldemar; Dabrowska, Katarzyna; Głowacka, Ewa; Lewiński, Andrzej

2015-03-01

Polycystic ovary syndrome (PCOS) is a diagnosis of exclusion. We present two cases of women with oligomenorrhoea and high concentration of androstendione, suggestive of possible androgen-secreting tumour; caused by assay interference. The first patient, investigated for oligomenorrhoea, had no significant hirsutism or acne. Androstendione concentration was above 10.0 ng/ml (rr: 0.3-3.3 ng/ml). In order to rule out possible androgen-secreting tumour or hypercortisolaemia we performed 48-hour low dose dexamethasone suppression test (LDDST). This failed to demonstrate adequate suppression of androstendione (6.05 ng/ml and 9.32 ng/ml after the first and the second day respectively). Pelvic ultrasound examination showed polycystic ovaries, while abdominal CTscan failed to show any ovarian or adrenal lesion. Despite such high androstendione concentrations, urinary steroid profile (gas chromatography/mass spectrometry method) yielded normal results. Hence a possibility of androstendione assay interference was raised. The second patient was also admitted for investigations of oligomenorrhoea. Clinical examination was unremarkable. There was a high concentration of testosterone 0.78 ng/ml (rr. 0.084-0.481 ng/ml) and androstendione above 10.0 ng/ml (rr: 0.3-3.3 ng/ml). LDDST failed to demonstrate any suppression of androstendione, while recalculated concentrations of androstendione after serial dilutions were markedly lower in comparison to initial values. Therefore, such high androstendione concentrations (i.e. above the upper limit of the assay) must have resulted from assay interference. In both cases a final diagnosis of PCOS was established. In the absence of clinical features, contrasting with unusually high androgen levels, a possibility of androgen assay interference should be considered in differential diagnosis of hyperandrogenism or PCOS.

[Differential diagnosis between dissociative disorders and schizophrenia].

PubMed

Shibayama, Masatoshi

2011-01-01

The differential diagnosis of dissociative disorders includes many psychiatric disorders, such as schizophrenia, bipolar disorders (especially bipolar II disorder), depressive disorder (especially atypical depression), epilepsy, Asperger syndrome, and borderline personality disorder. The theme of this paper is the differential diagnosis between dissociative disorders and schizophrenia. Schneiderian first-rank symptoms in schizophrenia are common in dissociative disorders, especially in dissociative identity disorder (DID). Many DID patients have been misdiagnosed as schizophrenics and treated with neuroleptics. We compared and examined Schneiderian symptoms of schizophrenia and those of dissociative disorders from a structural viewpoint. In dissociative disorders, delusional perception and somatic passivity are not seen. "Lateness" and "Precedence of the Other" originated from the concept of "Pattern Reversal" (H. Yasunaga)" is characteristic of schizophrenia. It is important to check these basic structure of schizophrenia in subjective experiences in differential diagnosis between dissociative disorders and schizophrenia.

Sporothrix schenckii Sensu Lato identification in fragments of skin lesion cultured in NNN medium for differential diagnosis of cutaneous leishmaniasis.

PubMed

Antonio, Liliane de Fátima; Pimentel, Maria Inês Fernandes; Lyra, Marcelo Rosandiski; Madeira, Maria de Fátima; Miranda, Luciana de Freitas Campos; Paes, Rodrigo Almeida; Brito-Santos, Fábio; Carvalho, Maria Helena Galdino Figueredo; Schubach, Armando de Oliveira

2017-02-01

Eighty-nine patients with clinical suspicion of leishmaniasis were referred for differential diagnosis. Sporothrix schenckii sensu lato was isolated in Novy-MacNeal-Nicolle + Schneider media in 98% of 64 patients with final diagnosis of sporotrichosis. This medium may be suitable for diagnosis of sporotrichosis in areas where cutaneous leishmaniasis is also endemic. Copyright © 2016 Elsevier Inc. All rights reserved.

Bowel obstruction: Differential diagnosis and clinical management

DOE Office of Scientific and Technical Information (OSTI.GOV)

Welch, J.P.

1987-01-01

This book presents a practical guide to the diagnosis and management of obstruction, both mechanical and organic, of the large and small bowel. Obstruction is a common problem for surgeons, and this text emphasizes differential diagnosis and the use of all radiologic modalities. It presents the surgical and medical considerations involved with gallstones, bezoars, parasites, tumors, inflammation, trauma, intussusception, more.

Student Physical Therapists' Competence and Self-Confidence in Basic Clinical Assessment and Musculoskeletal Differential Diagnosis.

PubMed

Alexander, Kathleen M; Olsen, Janette; Seiger, Cindy; Peterson, Teri S

2016-01-01

Student physical therapists are expected to learn and confidently perform technical skills while integrating nontechnical behavioral and cognitive skills in their examinations and interventions. The purpose of this study was to compare the self-confidence of entry-level doctoral student physical therapists during foundational assessment and musculoskeletal differential diagnosis courses and the students' competencies based on skills examinations. Methods using qualitative and quantitative procedures. Student physical therapists (n=27) participated in a basic assessment course followed by a musculoskeletal differential diagnosis course. The students completed confidence surveys prior to skills examinations in both courses. A random sample of students participated in focus groups, led by a researcher outside the physical therapy department. Student confidence did not correlate with competency scores. At the end of the basic clinical assessment course and the beginning of the differential diagnosis course, students' confidence was significantly below baseline. However, by the end of the differential diagnosis course, student confidence had returned to original baseline levels. Over three semesters, the students lost confidence and then regained confidence in their abilities. Additional experience and practice influenced perceived confidence. However, increased competence may have been associated with poor self-appraisal skills instead of increased competency.

Epithelioid sarcoma of the penis: a case report.

PubMed

Colombo, Fulvio; Franceschelli, Alessandro; Schiavina, Riccardo; Gentile, Giorgio; Passaretti, Giovanni; Martorana, Giuseppe

2013-11-01

Epithelioid sarcoma of the penis is a slowly growing soft tissue neoplasm that rarely arises from the penis. The aim of this case is to describe this rare pathology and to underline the importance of differential diagnosis with benign diseases such as Peyronie's disease. We report the case of a 20-year-old man who referred the onset of a progressive left dorsolateral penile curvature (about 60°) started 3 years before. The patient was evaluated with two US examinations that revealed two sites of tunical thickening with normal hemodynamic evaluation. The physical examination demonstrated a dorsal fibrotic plaque of about 2.5 cm. A juvenile form of Peyronie's Disease was diagnosed, and the patient was scheduled for surgical treatment (plaque's incision/excision and grafting). Intraoperative appearance showed that the great part of the left cavernous body was substituted by a very tough tissue which deeply involved the erectile tissue; intraoperative frozen section was suspicious for mesenchymal epithelioid neoplasm. In order to obtain definitive histological analysis and collect proper informed consent, we preferred to proceed with our original project, applying a dual graft (buccal mucosa and allograft dermal matrix) to cover the wide excised area. The final histological report confirmed the diagnosis of epithelioid sarcoma. Postoperative CT and MRI, at 3 and 6 months from surgery, were negative for metastases. The patient underwent radical intervention after 6 months. Epithelioid sarcoma of the penis and Peyronie's Disease can present with similar clinical findings although they obviously entail a different clinical progress. Since the diagnosis of neoplasm can be established only by the pathologist on biopsy specimen, in cases of unusual clinical presentation of Peyronie's disease (especially in young men suffering from a fast-growing penile induration), an early histological assessment should be performed to avoid the possibility of misdiagnosis in case of this poor-prognosis disease and to assure the definitive diagnosis. © 2012 International Society for Sexual Medicine.

Infantile masturbation in an African female: is this a justification for female genital cutting?

PubMed

Otaigbe, Barbara Edewele

2008-05-01

Masturbation is a taboo and not discussed openly in Africa. It is still worse when it occurs in an infant and will thus call for a visit to the traditional healers for 'spiritual intervention' and prompt female genital cutting/mutilation to reduce the child's libido and risk of sexual promiscuity as she gets older. Because of its peculiar presentation in children without manual genital stimulation, it is often misdiagnosed. A Medline search showed sparse information on infantile masturbation and none from Africa. A 15-month-old female was brought into a clinic in Port Harcourt, Nigeria, with a history of unusual rocking with adduction of the thighs noticed since 3 months of age. At 10 months of age, the child would lean forward and rock continuously on a hard surface such as a chair or an adult's lap. Rocking was accompanied with lip smacking, eye rolling, shaking, "watching of television in the air", spasm and feeling of fatigue and then resumption of the motions unless she was distracted. The child had been spanked occasionally by both parents with no noticeable change in behavior. Older female relatives had suggested female genital cutting or circumcision, but her father resisted vehemently. Infantile masturbation was viewed by the pediatrician and a 10-minute video recording was taken to confirm the diagnosis. The mother was reassured, counseled about behavioral and environmental modification. There was a marked improvement when the baby was seen 6 weeks later. Infantile masturbation rarely diagnosed in our region is probably due to a low index of suspicion and because mothers are afraid of stigma. We suggest that infantile masturbation should always be considered as a differential diagnosis of strange movement mimicking epilepsy in infants, and when a diagnosis is made parents should be counseled against female genital cutting. A video recording is encouraged fora correct diagnosis.

Prefoveal floaters as a differential diagnosis to optic neuritis: "mouches dormantes".

PubMed

Burggraaff, Marloes C; de Vries-Knoppert, Willemine A E J; Petzold, Axel

2017-09-01

This case series describes a new optical coherence tomography (OCT) specific observation relevant to the differential diagnosis of patients with suspected optic neuritis. A tiny prefoveal floater, only detectable by OCT, was found responsible for the symptoms in three patients, one of whom had been referred with unilateral delayed visual evoked potentials. This case series suggests that with increased use of OCT in routine clinical care, entoptic phenomena can be demonstrated as a relevant differential diagnosis to optic neuritis. Patients should be explained the benign nature of their symptoms.

A case of multicentric low-grade neuroendocrine breast tumor with an unusual histological pattern.

PubMed

D'Antonio, Antonio; Addesso, Maria; Memoli, Domenico; Cascone, Annamaria; Cremone, Luigi

2016-01-01

Neuroendocrine features are detectable in carcinomas of the breast either as scattered cells, that are recognized by their expression of neuroendocrine cell markers. Instead, pure breast carcinomas with neuroendocrine features (NEBC) are very rare and represent <1% of all breast cancer. Usually NEBC may be well or poorly differentiated and more frequent in older woman. These tumors showed variable histological pattern but a common feature is represented by expression of neuroendocrine markers. Here we report a case of a primary multicentric low-grade neuroendocrine carcinoma of the breast presented because of its rarity and for the unusual tubular and cribriform pattern resembling a well-differentiated conventional breast carcinoma. The tumor was treated with left quadrantectomy with concomitant wide excisional biopsy of other two nodules and lymph node sentinel biopsy. No recurrence was observed during 1-year follow-up. Because of its rarity and variability of morphologic features, there exist diagnostic challenges for pathologists to differentiate primary NEBC to some conventional breast carcinomas and to the breast metastasis from neuroendocrine tumor of the lung or gastrointestinal tract. It is important to be able recognize this tumor in order to avoid potential misdiagnosis and improper management of afflicted patients.

Extra-adrenal pheochromocytoma: an unusual cause of deep vein thrombosis.

PubMed

Stevenson, Susan; Ramani, Vijay; Nasim, Akhtar

2005-09-01

We report a case of extra-adrenal pheochromocytoma within the organ of Zuckerkandl that presented initially with a left iliofemoral deep venous thrombosis (DVT). At the time of presentation, the DVT was thought to be idiopathic as no underlying cause was detected. Subsequently, because of a series of medical events, the patient was further investigated. This led to a diagnosis of extra-adrenal pheochromocytoma. We discuss the management of patients presenting with DVT, the nature of pheochromocytoma within the organ of Zuckerkandl, and problems relating to its diagnosis.

Meckel’s diverticulitis causing small bowel obstruction by a novel mechanism

PubMed Central

Shelat, Vishalkumar G.; Kelvin Li, Kaiwen; Rao, Anil; Sze Guan, Tay

2011-01-01

Meckel’s diverticulum occurs in 2% of the general population and majority of patients remain asymptomatic. Gastrointestinal bleeding is the most common presentation in the paediatric population. While asymptomatic and incidentally found Meckel’s diverticulum may be left alone, surgery is essential for treating a symptomatic patient. Despite advances in imaging and technology, pre-operative diagnosis is often difficult. We present a first report of an unusual mechanism of small bowel obstruction due to Meckel’s diverticulitis in a paediatric patient. The diagnosis was only apparent at laparotomy. PMID:24765312

[Primary hydatid cyst of the thyroid, an unusual localisation of hydatidosis].

PubMed

Lada, P; Lermite, E; Hennekinne-Mucci, S; Etienne, S; Pessaux, P; Arnaud, J-P

2005-04-23

Echinococcus granulosus, responsible for hydatidosis, most often lodges in the liver and lungs, but is found in other organs of the body in 10% of cases. A painless, left cervical tumefaction suddenly developed in a 28-year-old Portuguese man. After thyroid lobectomy with isthmusectomy, the pathology findings led to the diagnosis of hydatidosis. The thyroid is a rare location for a hydatid cyst. Diagnosis can be difficult and fine-needle aspiration cytology is not usually helpful. Treatment requires surgical excision, and administration of benzimidazole derivatives to prevent recurrence.

Auto-immune encephalitis as differential diagnosis of infectious encephalitis

PubMed Central

Armangue, Thaís; Leypoldt, Frank; Dalmau, Josep

2014-01-01

Purpose of review To describe the main types of autoimmune encephalitis with special emphasis on those associated with antibodies against neuronal cell surface or synaptic proteins, and the differential diagnosis with infectious encephalitis. Recent findings There is a continuous expansion of the number of cell surface or synaptic proteins that are targets of autoimmunity. The most recently identified include the mGluR5, DPPX, and the GABAAR. In these and previously known autoimmune encephalitis (NMDAR, AMPAR, GABABR, LGI1, CASPR2), the prodromal symptoms or types of presentations often suggest a viral encephalitis. We review here clues that help in the differential diagnosis with infectious encephalitis. Moreover, recent investigations indicate that viral encephalitis (e.g., herpes simplex) can trigger synaptic autoimmunity. In all these disorders immunotherapy is usually effective. Summary Autoimmune encephalitis comprises an expanding group of potentially treatable disorders that should be included in the differential diagnosis of any type of encephalitis. PMID:24792345

[Desmoplastic fibroma. Differential diagnosis of a periapical lesion from endodontic failure].

PubMed

Zabalegui, B; Gil, J; Zabalegui, I

1989-01-01

Treatment of endodontically involved teeth requires accurate diagnosis of the clinical pulpal condition to determine the primary cause of pathosis. The case presented shows the differential diagnosis between a desmoplastic fibroma and a failure of a misdiagnosed endodontic treatment. The initial direction of treatment should had never been the endodontic therapy but local surgical curettage of the lesion.

Percutaneous cavitary lavage in the diagnosis of pulmonary cavities

PubMed Central

Findik, Serhat; Ozmen, Zafer; Atici, Atilla Guven; Akan, Huseyin

2013-01-01

Objective To investigate diagnostic significance of percutaneous cavitary lavage (PCL) in differential diagnosis of benign and malignant pulmonary cavitary lesions. Methods An alternative diagnostic method called PCL was performed on 16 patients having peripherally located pulmonary cavitary lesions with thin walls which were not suitable for tissue biopsy and whose diagnosis could not be made by sputum examination and bronchoscopic procedures. A 22-gauge needle was inserted into the cavity under computed tomography (CT) guidance. Saline was injected through the needle and then aspirated. The specimen was examined cytologically and microbiologically. Results PCL could make a correct diagnosis in 12 of 16 patients (75%). In three patients (18.7%) appropriate specimen could not be taken. Diagnostic sensitivity and specificity of PCL for malignant-benign differentiation was 80% and 100%, respectively. The accuracy of PCL for this differentiation was 92.3%. There was only one complication, a small pneumothorax resolved without any intervention. Conclusions PCL is an alternative method in the differential diagnosis of thin walled pulmonary cavitary lesions especially for patients whose diagnosis could not be made by sputum and bronchoscopic procedures and who are not suitable for cutting needle biopsy. PMID:23991300

Orbital inflammatory disease: Pictorial review and differential diagnosis

PubMed Central

Pakdaman, Michael N; Sepahdari, Ali R; Elkhamary, Sahar M

2014-01-01

Orbital inflammatory disease (OID) represents a collection of inflammatory conditions affecting the orbit. OID is a diagnosis of exclusion, with the differential diagnosis including infection, systemic inflammatory conditions, and neoplasms, among other conditions. Inflammatory conditions in OID include dacryoadenitis, myositis, cellulitis, optic perineuritis, periscleritis, orbital apicitis, and a focal mass. Sclerosing orbital inflammation is a rare condition with a chronic, indolent course involving dense fibrosis and lymphocytic infiltrate. Previously thought to be along the spectrum of OID, it is now considered a distinct pathologic entity. Imaging plays an important role in elucidating any underlying etiology behind orbital inflammation and is critical for ruling out other conditions prior to a definitive diagnosis of OID. In this review, we will explore the common sites of involvement by OID and discuss differential diagnosis by site and key imaging findings for each condition. PMID:24778772

[The usefulness of in vitro interferon-gamma assay for differential diagnosis between intestinal tuberculosis and Crohns disease].

PubMed

Lee, Jung Nam; Ryu, Dong Yup; Park, Sung Han; You, Hyun Seok; Lee, Bong Eun; Kim, Dong Uk; Kim, Tae Oh; Heo, Jeong; Kim, Gwang Ha; Song, Geun Am; Kim, Suk; Park, Do Youn

2010-06-01

It is difficult to clinically and endoscopically differentiate intestinal tuberculosis (ITB) and Crohns disease (CD). The aim of this study was to evaluate the usefulness of in vitro interferon-gamma (INF-gamma) assay for differential diagnosis between ITB and CD. Sixty patients for whom differential diagnosis between ITB and CD was difficult were enrolled between January 2007 and January 2009. The INF-gamma-producing T-cell response to early secreted antigenic target 6 and culture filtrate protein 10 were measured by T-SPOT.TB blood test in vitro. We evaluated the usefulness of T-SPOT.TB blood test by comparing its results with the final diagnosis. Twenty and forty patients were revealed to be positive and negative in T-SPOT.TB blood test, respectively. Of the 20 patients found to be positive, 12 patients (60%) were finally diagnosed as ITB, 6 patients as CD, and 2 patients as Behcets enterocolitis. Of the 40 patients with negative results, 38 patients (95%) were diagnosed as CD; one as Behcets enterocolitis; one as nonspecific colitis; none as ITB. The sensitivity and specificity of T-SPOT.TB blood test for ITB were 100% and 83.3%, respectively. Positive and negative predictive values of T-SPOT.TB blood test for ITB were 60.0% and 100%, respectively. When differential diagnosis between ITB and CD is difficult, T-SPOT.TB blood test may be a helpful and rapid diagnostic tool to exclude ITB. Prospective large-scaled studies are required for further evaluation of the usefulness of T-SPOT.TB blood test for differential diagnosis between ITB and CD.

Regenerative nodular hyperplasia, portal vein thrombosis and primary myelofibrosis: an unusual triple association.

PubMed

Sández Montagut, Víctor Manuel; Giráldez Gallego, Álvaro; Ontanilla Clavijo, Guilermo

2018-03-01

We report a case of a regenerative nodular hyperplasia with a portal vein cavernomatosis with a subsequent progression to symptomatic, occlusive thrombosis of the superior mesenteric vein. A thorough investigation resulted in a final diagnosis of primary myelofibrosis associated with the V617F mutation in the JAK2 gene.

Leiomyoma of the anal canal: report of two cases.

PubMed

Witz, M; Bernheim, J; Griffel, B; Dinbar, A

1986-10-01

Leiomyoma of the rectum and anal canal is an unusual clinical entity. Generally, it does not produce any clinical signs and in most cases it is discovered incidentally in the course of routine rectal examination. The clinical presentation, diagnosis, and surgical treatment are described in two presented cases of anal canal leiomyoma.

Multidisciplinary Developmental Evaluation Improves Early Diagnosis of Infantile Autism.

ERIC Educational Resources Information Center

Siegel, B.; And Others

A life-course perspective of the diagnostic histories of 75 autistic individuals (ages 4-25) was obtained through the use of parent surveys and a review of their charts. The study was made to understand better how children who presented with uneven or unusual behavioral development are identified as developmentally multihandicapped. Areas examined…

Break-dance: an unusual cause of hammer syndrome.

PubMed

Schneider, Frédéric; Milesi, Ilaria; Haesler, Erik; Wicky, Stephan; Schnyder, P; Denys, Alban

2002-01-01

We report the case of a young break-dancer presenting with hammer syndrome. This syndrome has been correlated with many professional and recreational activities but this is, to our knowledge, the first description of hammer syndrome caused by break-dancing. The etiology, diagnosis and treatment modalities of this rare syndrome are considered.

An International Schools Perspective on Diagnosis and Treatment of Reading Disabilities.

ERIC Educational Resources Information Center

Balajthy, Ernest

A diagnostic evaluation was conducted on Thomas, a fifth-grade student, to identify levels of reading and major word identification strategies. Initial testing conducted at Thomas' home revealed that he appeared to have an unusually positive attitude toward reading, considering the difficulties it had presented him since kindergarten. Learning…

Break-Dance: An Unusual Cause of Hammer Syndrome

DOE Office of Scientific and Technical Information (OSTI.GOV)

Schneider, Frederic; Milesi, Ilaria; Haesler, Erik

2002-08-15

We report the case of a young break-dancer presenting with hammer syndrome. This syndrome has been correlated with many professional and recreational activities but this is, to our knowledge, the first description of hammer syndrome caused by break-dancing. The etiology, diagnosis and treatment modalities of this rare syndrome are considered.

A rare case with synchronous gastric gastrointestinal stromal tumor, pancreatic neuroendocrine tumor, and uterine leiomyoma.

PubMed

Arabadzhieva, Elena; Yonkov, Atanas; Bonev, Sasho; Bulanov, Dimitar; Taneva, Ivanka; Vlahova, Alexandrina; Dikov, Tihomir; Dimitrova, Violeta

2016-11-15

Although gastrointestinal stromal tumors (GISTs) are the most common mesenchymal tumors of the gastrointestinal tract, they comprise less than 1% of all gastrointestinal tumors. Neuroendocrine tumors (NET) of the gastro-enteropancreatic system are also rare, representing about 2% of all gastrointestinal neoplasms. Pancreatic localization of NET is extremely uncommon-these tumors are only 1-5% of all pancreatic cancers. We describe an unusual case with triple tumor localization-a gastric tumor, a formation in the pancreas, which involves the retroperitoneal space, and a uterine leiomyoma. The exact diagnosis was confirmed with immunohistochemical study after surgical treatment of the patient. Distal pancreatic resection, splenectomy, partial gastrectomy, omentectomy, and hysterectomy were performed. The histological examination proved an epithelioid type of gastric GIST. Immunostaining showed focal positive expression of c-kit and no mitotic figures per 50 HPF. Histology of the pancreatic and retroperitoneal formation proved a well-differentiated NET with origin from the islets of Langerhans. The immunohistochemical study demonstrated co-expression of chromogranin A and synaptophysin. This is the fourth case published so far of a patient with synchronous pancreatic NET and gastric GIST. The main objective of the study is to present a unique case because we have not found any reports for coexistence of the described three types of neoplasm, as in our patient, and we hope that it will be valuable in the future investigations about the genesis, diagnosis, and treatment of these types of tumors.

A 35-year-old woman presenting with an unusual post-traumatic leiomyoma of the nipple: a case report.

PubMed

Pavlidis, Leonidas; Vakirlis, Efstratios; Spyropoulou, Georgia-Alexandra; Pramateftakis, Manousos Georgios; Dionyssiou, Dimitris; Demiri, Efterpi

2013-02-19

Leiomyoma of the mammary papilla is one of the most uncommon nipple tumors with only 50 cases reported in the literature until now. To the best of our knowledge we present the first report of a nipple leiomyoma that originated from a traumatic abrasion caused by breastfeeding. A 35-year-old healthy Caucasian female with a cauliflower-like tender and pink nodular mass that was approximately 10mm in diameter presented to our out-patients department. The patient suggested that the mass originated from a traumatic abrasion caused by breastfeeding three years ago and it has been slowly growing ever since.An excision biopsy was performed. The histological and immunohistochemical examination confirmed the diagnosis of leiomyoma. There were no postoperative complications or any sign of local recurrence four years postoperatively. Leiomyoma of the mammary papilla is a rare benign neoplasm that usually appears as a solid tender nodule. Differential diagnosis comprises breast carcinoma, leiomyosarcoma and myoid hamartoma. The recommended treatment is complete excision of the tumor with histologically confirmed tumor-free margins otherwise recurrence is possible. A detailed history of the patient's disease can reveal the original etiology. This is an original case report that will have particular interest to plastic surgeons, dermatologists, and pathologists. The pathogenetic mechanism was trauma of the nipple. According to our review of the literature this particular information has never been reported and we think that it may advance our knowledge of this very infrequent tumor.

Scrub typhus masquerading as HELLP syndrome and puerperal sepsis in an asymptomatic malaria patient.

PubMed

Karim, Habib Md Reazaul; Bhattacharyya, Prithwis; Kakati, Sonai Datta; Borah, Tridip Jyoti; Yunus, Md

2016-01-01

Scrub typhus and malaria can involve multiple organ systems and are notoriously known for varied presentations. However, clinical malaria or scrub typhus is unusual without fever. On the other hand, altered sensorium with or without fever, dehydration, hemorrhage and hemolysis may lead to low blood pressure. Presence of toxic granules and elevated band forms in such patients can even mimic sepsis. When such a patient is in the peripartum period, it creates a strong clinical dilemma for the physician especially in unbooked obstetric cases. We present such a case where a 26-year-old unbooked female presented on second postpartum day with severe anemia, altered sensorium, difficulty in breathing along with jaundice and gum bleeding without history of fever. Rapid diagnostic test for malaria was negative and no eschar was seen. These parameters suggested a diagnosis of HELLP (Hemolysis, Elevated Liver enzymes, Low Platelet) syndrome with or without puerperal sepsis. Subsequently she was diagnosed as having asymptomatic malaria and scrub typhus and responded to the treatment of it. The biochemical changes suggestive of HELLP syndrome also subsided. We present this case to emphasize the fact that mere absence of fever and eschar does not rule out scrub typhus. It should also be considered as a differential diagnosis in patients with symptoms and signs suggesting HELLP syndrome. Asymptomatic malaria can complicate case scenario towards puerperal sepsis by giving false toxic granules and band form in such situations.

A CARE-compliant article: a case of retrograde intussusception with Uncut-Roux-en-Y anastomosis after radical total gastrectomy: Review of the literature.

PubMed

Zhou, Youxin; Wang, Fengfeng; Ji, Yong; Lv, Jian

2017-12-01

Postoperative intussusception is an unusual clinical entity and is rarely encountered as a complication following gastrectomy, especially radical total gastrectomy. A 74-year-old woman was admitted to our hospital with complaints of melena and hematemesis. And the endoscopic biopsy confirmed the poorly differentiated adenocarcinoma of the stomach. Radical total gastrectomy with Uncut Roux-en-Y reconstruction was performed. On the third postoperative day (POD3), the patient complained of paroxysmal pain around the umbilicus, accompanied by nausea and vomiting. Retrograde intussusceptions after radical total gastrectomy with Uncut Roux-en-Y reconstruction based on exploratory laparotomy. On POD4, the abdominal computed tomography (CT) showed small bowel dilatation and fluid accumulation in the upper abdominal cavity, as well as a small mass of soft tissue on the left side of the pelvis. Small bowel obstruction was considered, and exploratory laparotomy was performed. Retrograde intussusception started just below the jejunojejunal anastomosis with possible organic lesions, which was subsequently removed. The patient recovered well and was discharged 15 days after the second operation. This case report was written for 3 purposes: to increase awareness of this complication after radical total gastrectomy with Uncut-Roux-en-Y reconstruction; to emphasize early diagnosis through clinical manifestation, physical examination, and auxiliary examination with abdominal CT; and lastly, to emphasize that a reasonable surgical procedure should be performed immediately after diagnosis.

Solid Variant of an Aneurysmal Bone Cyst of the Thoracic Spine.

PubMed

Mehta, Varshil; Padalkar, Pravin; Kale, Maya; Kathare, Ambadas

2017-05-01

The solid variant of an aneurysmal bone cyst (ABC) has been observed very rarely, especially those involving the spine. In this case report, we present a very unusual tumour of the thoracic spine which was managed by 360˚ decompression via posterior-only approach and stabilization. A 16-year-old boy presented to us with a sudden onset of weakness in both lower limbs leading to paraplegia. He also had a history of back and chest pain over the past one year. A collapse of the T5 vertebrae on plain radiograph was observed. The patient was immediately shifted to the operation theatre with an initial plan of a total en bloc spondylectomy of the T5. However, intraoperatively, histology favored a solid-ABC variant rather than a spindle cell tumour or giant cell tumour. Thus, the initial plan was revised to a 360˚ decompression without resecting the body en bloc via a posterolateral approach. After surgery, complete resolution of his sensory and motor dysfunction was achieved. His chest and back pain also resolved. The diseased vertebral body gradually healed and new bone formation was seen at 18 months postoperatively. This case report concludes that a solid variant of an ABC should be considered as a differential diagnosis for tumours involving the spine. An intraoperative frozen section procedure should be undertaken, especially during emergency situations. Early diagnosis and appropriate surgical management play an important role in the successful management of a solid variant of ABC.

Co-existence of breast and ovarian cancers in BRCA germ-line mutation carriers

PubMed Central

Dilawari, A; Cangiarella, J; Smith, J; Huang, A; Downey, A; Muggia, F

2008-01-01

The co-existence of breast and ovarian cancers in the same individual should raise suspicion of a hereditary process. Patients with either BRCA1 or BRCA2 germ-line mutations have an average risk of 39% and 11% respectively of developing ovarian cancer by the age of 70; they have a risk of 35–85% of developing breast cancer in their lifetime. We report here unusual pathologic features in a BRCA2 germ-line mutation carrier recently diagnosed with synchronous breast and ovarian cancers, and summarize the findings in six other women who were diagnosed with ovarian cancer either simultaneously with the diagnosis of breast cancer or at varying times after the diagnosis. While in most instances this may be a coincidental occurrence in highly susceptible individuals, the patient we highlight raises the provocative hypothesis that at times breast cancer metastasizes to the ovaries of mutation carriers and stimulates the development of an ovarian cancer as well as other cancers. In addition, these ovarian cancers may have different mechanisms of metastases predisposing them to travel to unusual sites. PMID:22275985

Cytophagic and S-100 protein immunoreactive myeloid leukemia cutis.

PubMed

Thomas, Crystal G; Patel, Rajiv M; Bergfeld, Wilma F

2010-03-01

Myeloid leukemia cutis (LC) is the cutaneous involvement by neoplastic leukocytes of the myeloid series. Myeloid LC may occur de novo or concurrently with acute myeloid leukemias, chronic myeloid leukemias, other myeloproliferative disorders or myelodysplastic syndromes. We describe an unusual case of cytophagic S-100 protein immunoreactive leukemia cutis presenting in an 87-year-old woman without prior history of myeloid leukemia or other hematologic disorders. We outline key histologic and immunohistochemical features that aide in the diagnosis of LC. The presence of cytophagocytosis on histologic examination, a phenomenon more commonly associated with lymphoid rather than myeloid malignancies, provided a clue to the possibility of a malignant process. The atypical myeloid infiltrate showed S-100 protein positivity, an unusual finding that may be seen in LC. Although not commonly reported in LC, the presence of S-100 protein positivity and cytophagocytosis should not lead to the premature exclusion of LC as a possible diagnosis until a thorough clinical, histologic and immunohistochemical evaluation is performed. In addition, the presence of cytophagocytosis has been shown to have prognostic significance for patients with myeloid leukemia.

Multiple intracranial calcifications and spinal compressions: rare complications of type la pseudohypoparathyroidism.

PubMed

Chen, H; Tseng, F; Su, D; Chen, H; Tsai, K

2005-01-01

Type la pseudohypoparathyroidism (PHP la) is an unusual inherited disease. PHP la often causes extraskeletal calcifications and even soft tissue ossifications. Patients may present neurologic symptoms and signs related to hypocalcemia and hyperphosphatemia. We report here a 38-yr-old woman with PHP la who had two uncommon neurologic complications. One was involuntary movements related to basal ganglia calcification, and the other was myelopathy owing to ossifications of the posterior longitudinal ligament and multiple herniated intervertebral disks. Aggressive body weight control and corrections of hypocalcemia, hyperphosphatemia, and elevated PTH may be important to prevent these unusual neurologic complications. Regular and careful neurologic examinations should be performed for early diagnosis and treatments of these spinal lesions.

Anomalous right coronary artery arising from the pulmonary artery and constrictive pericarditis: an unusual association

PubMed Central

Silvestre, Odilson Marcos; Adam, Eduardo Leal; de Melo, Dirceu Thiago Pessoa; Dias, Ricardo Ribeiro; Ramires, Felix J. A.; Mady, Charles

2013-01-01

ABSTRACT The association of anomalous right coronary artery originating from the pulmonary artery and constrictive pericarditis has never been showed in the literature. We present the first case of this unusual association in a patient with right heart failure. After diagnosis, the patient was referred to surgery and underwent phrenic-to-phrenic pericardiectomy; graft implant of right internal thoracic artery to right coronary artery; and ligation of the anomalous origin of the right coronary artery from the pulmonary artery. Such procedures solved the potential risk of sudden death related to anomalous right coronary artery originating from the pulmonary artery and alleviated the symptoms of heart failure caused by constrictive pericarditis. PMID:24136766

Churg-Strauss syndrome presenting with eosinophilic myocarditis: a diagnostic challenge.

PubMed

Correia, Ana Sofia; Gonçalves, Alexandra; Araújo, Vítor; Almeida e Silva, João; Pereira, José Manuel; Rodrigues Pereira, Pedro; Pizarro, Manuel; Silva, João Carlos; Maciel, Maria Júlia

2013-09-01

Churg-Strauss syndrome (CSS) is an unusual disease that presents as systemic vasculitis and peripheral eosinophilia in patients with an atopic constitution. Cardiac involvement is unusual and often not prominent on initial presentation, but is an important cause of morbidity and mortality in patients with CSS. We report the case of a young woman with severe acute myocarditis. Coronary arteriography demonstrated extensive focal vasculopathy, consistent with coronary vasculitis, and myocardial biopsy showed eosinophilic myocarditis. This presentation led to an initial diagnosis of CSS in this patient and appropriate therapy resulted in a spectacular remission of disease activity. Copyright © 2012 Sociedade Portuguesa de Cardiologia. Published by Elsevier España. All rights reserved.

An unusual fracture of the talus in a snowboarder.

PubMed

Vlahovich, A Tanja; Mehin, Ramin; O'Brien, Peter J

2005-08-01

Fractures of the talus are uncommon. However, snow- boarding and skateboarding are 2 activities that are specifically associated with talus fractures. These patients sustain occult lateral talus process fractures that present as a severe ankle injury. The diagnosis is difficult because of subtle clinical and plain radiographic findings. Computed tomography is a very useful tool for the assessment of these injuries. Although the majority of these athletes have lateral sided talus fractures, there are variants. We present an unusual case of a displaced intra-articular fracture of the subtalar joint involving the middle articular facet of the talus with extension of the fracture into the talar head. This highlights the importance of carefully assessing snowboarders' "ankle injuries."

Hashimoto thyroiditis with an unusual presentation of cardiac tamponade in Noonan syndrome.

PubMed

Lee, Mi Ji; Kim, Byung Young; Ma, Jae Sook; Choi, Young Earl; Kim, Young Ok; Cho, Hwa Jin; Kim, Chan Jong

2016-11-01

Noonan syndrome is an autosomal dominant, multisystem disorder. Autoimmune thyroiditis with hypothyroidism is an infrequent feature in patients with Noonan syndrome. A 16-year-old boy was admitted because of chest discomfort and dyspnea; an echocardiogram revealed pericardial effusion. Additional investigations led to a diagnosis of severe hypothyroidism due to Hashimoto thyroiditis. The patient was treated with L-thyroxine at 0.15 mg daily. However, during admission, he developed symptoms of cardiac tamponade. Closed pericardiostomy was performed, after which the patient's chest discomfort improved, and his vital signs stabilized. Herein, we report a case of an adolescent with Noonan syndrome, who was diagnosed with Hashimoto thyroiditis with an unusual presentation of cardiac tamponade.

Autism in Early Childhood: An Unusual Developmental Course—Three Case Reports

PubMed Central

Cohen-Ophir, Michal; Castel-Deutsh, Tsophia; Tirosh, Emanuel

2012-01-01

Autistic spectrum disorder (ASD) is typically characterized by either an emerging and gradual course or developmental regression in early childhood. The versatile clinical course is progressively acknowledged in recent years. Children with developmental disorders in general are referred to the Child Development Center for a multidisciplinary assessment, investigation, treatment and followup. We report three infants with an initial diagnosis of developmental delays, recovery of normal development following intervention in a multidisciplinary center, and subsequent regression into classic autism following their discharge from the program. An extensive medical workup was noncontributory. This unusual presentation, to our knowledge not reported previously, should be recognized by professionals involved in child development and psychiatry. PMID:22937419

Myopericytoma proliferating in an unusual anastomosing multinodular fashion.

PubMed

Inoue, Takuya; Misago, Noriyuki; Asami, Akihiko; Tokunaga, Osamu; Narisawa, Yutaka

2016-05-01

We herein describe a case of myopericytoma that proliferated in an unusual fashion. Myopericytoma is described as a group of rare, benign, dermal or subcutaneous tumors that are characterized histologically by a striking, concentric, perivascular proliferation of spindle cells and showing apparent differentiation towards perivascular myoid cells. Myopericytoma forms a morphological continuum with myofibroma/myofibromatosis, glomus tumor and angioleiomyoma. The patient was a 64-year-old woman who demonstrated a recurrent ulcer on an atrophic plaque on her left shin. A histopathological examination of the plaque demonstrated that tumor cells proliferated in an anastomosing multinodular fashion along the vessels in the dermis and subcutaneous tissue. In those nodules, there were numerous, small, concentric proliferations of myoid-appearing spindle cells around small vascular lumina. The present case is an unusual example of myopericytoma, manifesting in a characteristic anastomosing, multinodular, infiltrating fashion. © 2015 Japanese Dermatological Association.

Differential Diagnosis of Autism Spectrum Disorder and Post Traumatic Stress Disorder: Two Clinical Cases

PubMed Central

Stavropoulos, Katherine Kuhl-Meltzoff; Bolourian, Yasamine; Blacher, Jan

2018-01-01

Autism spectrum disorder (ASD) is estimated to affect one in 68 children. Given the increase in both prevalence and awareness of ASD, it is critical to provide accurate and timely diagnosis. However, ASD often co-occurs with other disorders, making diagnosis difficult. The objective of the current case study was to provide two examples of differential diagnosis in ASD and post-traumatic stress disorder (PTSD) observed in an autism clinic. In both cases, the goal was to decide whether each child should be given a diagnosis of ASD, PTSD, or both. PMID:29642485

Unusual Differentiation to Pheochromocytoma-Like Cells in an Adrenal Neuroblastoma After Chemotherapy: A Case Report and Literature Review.

PubMed

Tatekawa, Yukihiro

2015-01-01

The authors present a case of 3-year-old female with Stage 4 neuroblastoma originating from the left adrenal gland. Biopsy of the left adrenal tumor showed neuroblastoma. After three courses of chemotherapy, the left adrenal gland including the left adrenal tumor was surgically removed. Pathological findings of the resected tumor revealed that most of the neuroblastoma tissues changed to pheochromocytoma-like cells. The tumor cells were arranged in well-defined nests surrounded by a delicate fibrovascular stroma and had granular eosinophilic cytoplasm, and round to oval nuclei. Immunohistological analysis of the biopsy samples showed strongly positive Ganglioside GD2-staining cells, whereas almost all of the tumor cells in the resected specimen were Ganglioside GD2-negative; cells were very weakly stained. The authors suggest that a part of the neuroblastoma in the left adrenal gland exhibited unusual differentiation toward pheochromocytic lineage Ganglioside GD2-negative neuroblastoma in a patient who had been treated with intensive chemotherapy.

Premature cell senescence and T cell receptor-independent activation of CD8T cells in Juvenile Idiopathic Arthritis*

PubMed Central

Dvergsten, Jeffrey A.; Mueller, Robert G.; Griffin, Patricia; Abedin, Sameem; Pishko, Allyson; Michel, Joshua J.; Rosenkranz, Margalit E.; Reed, Ann M.; Kietz, Daniel A.; Vallejo, Abbe N.

2013-01-01

Objectives CD8T cells lacking CD28 were originally reported by Wedderburn and colleagues as a characteristic feature of JIA, but the relevance of these unusual cells to JIA remains to be elucidated. Because of recent evidence that CD28 loss is typical of terminally differentiated lymphocytes, we examined for functional subsets of CD8T cells in JIA. Methods Following informed consent/assent, blood and/or waste synovial fluid were collected from children with definite diagnosis of JIA (n = 98). De-identified blood (n = 33) and cord blood (n = 13) samples from healthy donors were also collected. CD8T and CD4T cells were screened for novel receptors, and where indicated, bioassays were performed to determine functional relevance of the identified receptor. Results Patients had a naïve T cell compartment with shortened telomeres, and their entire T cell pool had reduced proliferative capacity. They had an over abundance of CD31+CD28null CD8T cells, which was a significant feature of oligoarticular JIA (n = 62) compared to polyarticular JIA (n = 36). CD31+CD28null CD8T cells had limited mitotic capacity, and expressed high levels of the senescence antigens γH2Ax and/or p16. Ligation of CD31, independent of the TCR, sufficiently induced tyrosine phosphorylation, vesicle exocytosis, and production of IFN-γ and IL-10. Conclusion These data provide the first evidence for cell senescence, represented by CD31+CD28null CD8T cells, in the pathophysiology of JIA. Activation of these unusual cells in a TCR-independent manner suggests they are maladaptive, and could be potential targets for immunotherapy. PMID:23686519

Dual cases of type 1 narcolepsy with schizophrenia and other psychotic disorders.

PubMed

Canellas, Francesca; Lin, Ling; Julià, Maria Rosa; Clemente, Antonio; Vives-Bauza, Cristofol; Ollila, Hanna M; Hong, Seung Chul; Arboleya, Susana M; Einen, Mali A; Faraco, Juliette; Fernandez-Vina, Marcelo; Mignot, Emmanuel

2014-09-15

Cases of narcolepsy in association with psychotic features have been reported but never fully characterized. These patients present diagnostic and treatment challenges and may shed new light on immune associations in schizophrenia. Our case series was gathered at two narcolepsy specialty centers over a 9-year period. A questionnaire was created to improve diagnosis of schizophrenia or another psychotic disorder in patients with narcolepsy. Pathophysiological investigations included full HLA Class I and II typing, testing for known systemic and intracellular/synaptic neuronal antibodies, recently described neuronal surface antibodies, and immunocytochemistry on brain sections to detect new antigens. Ten cases were identified, one with schizoaffective disorder, one with delusional disorder, two with schizophreniform disorder, and 6 with schizophrenia. In all cases, narcolepsy manifested first in childhood or adolescence, followed by psychotic symptoms after a variable interval. These patients had auditory hallucinations, which was the most differentiating clinical feature in comparison to narcolepsy patients without psychosis. Narcolepsy therapy may have played a role in triggering psychotic symptoms but these did not reverse with changes in narcolepsy medications. Response to antipsychotic treatment was variable. Pathophysiological studies did not reveal any known autoantibodies or unusual brain immunostaining pattern. No strong HLA association outside of HLA DQB1*06:02 was found, although increased DRB3*03 and DPA1*02:01 was notable. Narcolepsy can occur in association with schizophrenia, with significant diagnostic and therapeutic challenges. Dual cases maybe under diagnosed, as onset is unusually early, often in childhood. Narcolepsy and psychosis may share an autoimmune pathology; thus, further investigations in larger samples are warranted. © 2014 American Academy of Sleep Medicine.

Magnetic resonance imaging differential diagnosis of brainstem lesions in children

PubMed Central

Quattrocchi, Carlo Cosimo; Errante, Yuri; Rossi Espagnet, Maria Camilla; Galassi, Stefania; Della Sala, Sabino Walter; Bernardi, Bruno; Fariello, Giuseppe; Longo, Daniela

2016-01-01

Differential diagnosis of brainstem lesions, either isolated or in association with cerebellar and supra-tentorial lesions, can be challenging. Knowledge of the structural organization is crucial for the differential diagnosis and establishment of prognosis of pathologies with involvement of the brainstem. Familiarity with the location of the lesions in the brainstem is essential, especially in the pediatric population. Magnetic resonance imaging (MRI) is the most sensitive and specific imaging technique for diagnosing disorders of the posterior fossa and, particularly, the brainstem. High magnetic static field MRI allows detailed visualization of the morphology, signal intensity and metabolic content of the brainstem nuclei, together with visualization of the normal development and myelination. In this pictorial essay we review the brainstem pathology in pediatric patients and consider the MR imaging patterns that may help the radiologist to differentiate among vascular, toxico-metabolic, infective-inflammatory, degenerative and neoplastic processes. Helpful MR tips can guide the differential diagnosis: These include the location and morphology of lesions, the brainstem vascularization territories, gray and white matter distribution and tissue selective vulnerability. PMID:26834941

Unusual mucoepidermoid carcinoma of the liver misdiagnosed as squamous cell carcinoma by intraoperative histological examination

PubMed Central

2014-01-01

As rare condition, mucoepidermoid carcinoma may occur in liver although its etiology and pathogenesis is still unclear. We report here a case of intrahepatic mucoepidermoid carcinoma misdiagnosed as cholangiocarcinoma and squamous cell carcinoma by preoperative radiologic and intraoperative histological examinations, respectively. A 60-year-old woman presented with a 1-month history of progressive jaundice, epigastric discomfort, and weight loss with slightly increased carbohydrate antigen 19-9 (CA19-9). Computed tomography (CT) showed a large tumor, 8.0 cm in diameter, in the left lobe of the liver. A preliminary diagnosis of a cholangiocarcinoma of the liver was made. In the intraoperative histological examination, a diagnosis of squamous cell carcinoma was made based on predominantly invasive epidermoid cells with abundant keratinization and absence of mucin-producing cell component. However, postoperative histological diagnosis of the lesion was mucoepidermiod carcinoma of liver by thoroughly microscopical inspection and the presence of mucin-producing cells confirmed by Alcian blue staining. Despite surgical excision and chemotherapy, the tumor showed very aggressive malignancy with tumor recurrence. The patient died shortly afterward, surviving 6 months after surgery. Due to its rarity and distinct morphological features, mucoepidermoid carcinoma might be erroneously interpreted as squamous cell carcinoma by those who were not familiar with this condition in unusual locations. Therefore, removal of sufficient tissue from different portions of the lesion is essential for the surgeons and pathologists to make a precise diagnosis in the intraoperative histological examination. Virtual slide The virtual slide(s) for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/vs/4956311271136060 PMID:24475740

A rare presentation of pheochromocytoma in pregnancy: a case report.

PubMed

Ghalandarpoor-Attar, Seyedeh Noushin; Ghalandarpoor-Attar, Seyedeh Mojgan; Borna, Sedigheh; Ghotbizadeh, Fahimeh

2018-02-09

Early diagnosis of pheochromocytoma and its proper management can lessen its mortality and morbidity. This case report describes a 24-year-old pregnant woman with an unusual presentation of pheochromocytoma. An Iranian 24-year-old primigravid woman from Kordistan province was referred to our center with left flank pain at 37 weeks of gestation. She had a history of gestational diabetes mellitus since the 12th week of gestation which was managed by insulin administration. She also had a history of pulsatile bi-temporal headache for 2 years prior to her referral to us. She underwent complete abdominal and pelvic ultrasound imaging for her flank pain. This examination revealed a heterogeneous mass of 119 × 87 × 79 mm above her left kidney, highly suspicious of being an adrenal-originating tumor. Subsequently, we consulted an endocrinologist. She underwent abdominopelvic magnetic resonance imaging and her 24-hour urine metanephrine, normetanephrine, and vanillylmandelic acid were assessed. Finally, the diagnosis of pheochromocytoma was confirmed. She underwent a cesarean section and adrenal mass excision at the 40th week of gestation. This timely diagnosis resulted in her proper management and good maternal and neonatal treatment outcomes. Our patient had pheochromocytoma during pregnancy. She had no complaints about hypertension before or during pregnancy until giving birth to her child; her only symptoms were a vague left flank pain, gestational diabetes, and headaches for the past 2 years. The unusual symptom of flank pain led to timely diagnosis and a good treatment outcome.

Cayenne aspiration: an unusual type of lower airway foreign-body aspiration

PubMed Central

Lin, Lianjun; Wang, Yuchuan; Zha, Xiankui; Tang, Fei; Lv, Liping; Liu, Xinmin

2014-01-01

Purpose Cayenne aspiration is an unusual type of foreign-body aspiration that is usually misdiagnosed. This article analyzes the clinical features of cayenne aspiration in the lower airway. Patients and methods Clinical data on eight adult patients with cayenne aspiration were retrospectively analyzed. Six were elderly patients. The data were collected from Peking University First Hospital and Anhui Chest Hospital between January 2010 and August 2014. Results The most common symptoms of cayenne aspiration were cough (eight cases, 100%) and sputum (five cases, 62.5%). Only one patient (12.5%) could supply the history of aspiration on his first visit to doctor and was diagnosed definitely without delay. The other seven cases were misdiagnosed as pneumonia and the time to accurate diagnosis was from 1 month to 6 months. The history of aspiration could be recalled after confirmed diagnosis for the other seven cases. The most common presentation shown by chest computed tomography (CT) was pneumonic opacity (eight cases, 100%). The existence of cayenne could not be detected by chest CT in any of the patients. All the patients were diagnosed definitively and managed successfully with flexible bronchoscopy. Cayenne was more often lodged in the right bronchus tree (seven cases, 87.5%), especially the right lower bronchus (four cases, 50%). The segment of cayenne was complete in five cases (62.5%) and scattered in three cases (37.5%). Conclusion The clinical features of cayenne aspiration are usually obscure and nonspecific which may lead to delay in diagnosis. Flexible bronchoscopy is safe and useful for early diagnosis and effective management. PMID:25473273

Differential diagnosis of food protein-induced enterocolitis syndrome

PubMed Central

Fiocchi, Alessandro; Claps, Alessia; Dahdah, Lamia; Brindisi, Giulia; Dionisi-Vici, Carlo; Martelli, Alberto

2014-01-01

Purpose of review To assess all the possible differential diagnosis of food protein-induced enterocolitis syndrome (FPIES), both in acute and chronic presentation, reviewing the data reported in published studies. Recent findings There is an increase of reported cases of FPIES in recent years. As the disease presents with nonspecific symptoms, it can be misunderstood in many ways. The differential diagnosis includes, in acute presentations, the following: sepsis, other infectious diseases, acute gastrointestinal episodes, surgical emergencies, food allergies. In its chronic forms, FPIES may mimic malabsorption syndromes, metabolic disorders, primary immunodeficiencies, neurological conditions, coagulation defects, and other types of non-IgE-mediated food allergy. Summary A thorough clinical evaluation, including symptoms, signs, and laboratory findings, is necessary to lead the clinicians toward the diagnosis of FPIES. The major reason for delayed diagnosis appears to be the lack of knowledge of the disease. PMID:24739227

[ENDOSONOGRAPHY IN THE DIFFERENTIAL DIAGNOSIS OF THE COMMON BILE DUCT STENOSIS].

PubMed

Solodinina, E N; Starkov, Y G; Shumkin, L V

2015-01-01

The article states the results of examination and treatment of 57 patients with stenosis of the common bile duct of various genesis. The main aim of the work is criteria definition and evaluation of diagnostic significance of endosonography in the differential diagnosis of benign and malignant common bile duct stenosis. The paper presents a methodology of endoscopic ultrasound and basic criteria for the differential diagnosis of tumors and other lesions of the extrahepatic bile ducts. A comparative analysis of endosonography, ultrasound, CT, MRCP was conducted. The sensitivity of endosonography in determining the nature of the common bile duct stenosis was 97.7%, a specificity 100% and accuracy 98.2%, which is superior to other methods of radiological diagnosis. In comprehensive surgical centers endosonography should be used as a method of specifying the final diagnosis to determine the nature of the common bile duct stenosis, particularly at low constriction location.

The Application of Acoustic Measurements and Audio Recordings for Diagnosis of In-Flight Hardware Anomalies

NASA Technical Reports Server (NTRS)

Welsh, David; Denham, Samuel; Allen, Christopher

2011-01-01

In many cases, an initial symptom of hardware malfunction is unusual or unexpected acoustic noise. Many industries such as automotive, heating and air conditioning, and petro-chemical processing use noise and vibration data along with rotating machinery analysis techniques to identify noise sources and correct hardware defects. The NASA/Johnson Space Center Acoustics Office monitors the acoustic environment of the International Space Station (ISS) through periodic sound level measurement surveys. Trending of the sound level measurement survey results can identify in-flight hardware anomalies. The crew of the ISS also serves as a "detection tool" in identifying unusual hardware noises; in these cases the spectral analysis of audio recordings made on orbit can be used to identify hardware defects that are related to rotating components such as fans, pumps, and compressors. In this paper, three examples of the use of sound level measurements and audio recordings for the diagnosis of in-flight hardware anomalies are discussed: identification of blocked inter-module ventilation (IMV) ducts, diagnosis of abnormal ISS Crew Quarters rack exhaust fan noise, and the identification and replacement of a defective flywheel assembly in the Treadmill with Vibration Isolation (TVIS) hardware. In each of these examples, crew time was saved by identifying the off nominal component or condition that existed and in directing in-flight maintenance activities to address and correct each of these problems.

Respiratory distress and chest pain: a perforated peptic ulcer with an unusual presentation.

PubMed

Bruner, David I; Gustafson, Corey

2011-06-22

Dyspnea and chest pain are common presenting complaints to the ED, and coupled together can present a challenging diagnostic dilemma in patients in extremis. A thoughtful evaluation is required, giving due diligence to the immediate life threats as well as multiple etiologies which can cause serious morbidity. A perforated peptic ulcer is one such possibility and requires rapid diagnosis and prompt intervention to avoid the associated high risk of morbidity and mortality. We present a case report of a 54 year old man with respiratory distress and chest pain as the initial Emergency Department presentation of a perforated duodenal ulcer. We discuss an unusual presentation of a perforated duodenal ulcer that was recognized in the emergency department and treated promptly. The patient was surgically treated immediately, had a prolonged and complicated post-operative course, but is ultimately doing well. We also provide a brief literature review of the risk factors, imaging choices, and management decision required to treat a perforated ulcer. Perforated ulcers can have highly varied presentations and are occasionally difficult to diagnose in a complicated patient. Knowledge of the risk factors and a thorough history and physical can point to the diagnosis, but timely and appropriate imaging is often required because delays in diagnosis and treatment lead to poor outcomes. Early administration of antibiotics and immediate surgical repair are necessary to limit morbidity and mortality.

Respiratory distress and chest pain: a perforated peptic ulcer with an unusual presentation

PubMed Central

2011-01-01

Background Dyspnea and chest pain are common presenting complaints to the ED, and coupled together can present a challenging diagnostic dilemma in patients in extremis. A thoughtful evaluation is required, giving due diligence to the immediate life threats as well as multiple etiologies which can cause serious morbidity. A perforated peptic ulcer is one such possibility and requires rapid diagnosis and prompt intervention to avoid the associated high risk of morbidity and mortality. Method We present a case report of a 54 year old man with respiratory distress and chest pain as the initial Emergency Department presentation of a perforated duodenal ulcer. Results We discuss an unusual presentation of a perforated duodenal ulcer that was recognized in the emergency department and treated promptly. The patient was surgically treated immediately, had a prolonged and complicated post-operative course, but is ultimately doing well. We also provide a brief literature review of the risk factors, imaging choices, and management decision required to treat a perforated ulcer. Conclusions Perforated ulcers can have highly varied presentations and are occasionally difficult to diagnose in a complicated patient. Knowledge of the risk factors and a thorough history and physical can point to the diagnosis, but timely and appropriate imaging is often required because delays in diagnosis and treatment lead to poor outcomes. Early administration of antibiotics and immediate surgical repair are necessary to limit morbidity and mortality. PMID:21696590

[Diagnosis and treatment characteristics of head-wind sha in She medicine].

PubMed

Zou, Guangyi; Xu, Xiangdong; Zheng, Songming; Yan, Lianhe; Lei, Houxing; Zhang, Qiao-ling; Xiang, Yingmei; Ye, Yiping; Song, Liwei

2015-03-01

The diagnosis and treatment characteristics of head-wind sha in She medicine were analyzed and summarized. By visiting She-nationality villages and towns in Zhejiang province and Fujian province and interviewing hundreds of doctors of She medicine, the sha diagnosis, sha differentiation, experience and theory of treatment were arranged, and a comprehensive summary on theory and application of head-wind sha in She medicine such as pathogeny, name of disease, mechanism, diagnosis, differential diagnosis and treatment was made. It is believed that the methods of diagnosis and treatment in She medicine for head-wind sha could effectively enhance curative effect, safety and patients' quality of life, and the further research should be carried out.

Classical and unusual imaging appearances of melorheostosis.

PubMed

Suresh, S; Muthukumar, T; Saifuddin, A

2010-08-01

This comprehensive review will discuss the classical and unusual radiological features of melorheostosis, which is an uncommon, non-hereditary, benign, sclerosing mesodermal disease with an incidence of 0.9 cases per million. The presentation of melorheostosis in the appendicular skeleton (more commonly involved) and in the axial skeleton (very few documented case reports) will be discussed. The aim of the review is to illustrate the associations and rare, but recognized, complications of the disorder. The role of cross-sectional imaging in the form of magnetic resonance imaging (MRI) and computed tomography (CT) in revealing the spectrum of disease manifestation and differentiation from other disease entities and malignancy will be explored.

Absent right coronary artery: A case of single coronary artery or congenital ostial atresia?

PubMed

Gupta, Mohit D; Girish, M P; Vignesh, Vickram; Narang, Poonam; Trehan, Vijay; Tyagi, Sanjay

2015-12-01

Atresia of the right coronary artery ostium is a rare anatomic variant of the coronary circulation. It is often difficult to differentiate from single coronary artery. Its presence unassociated with any other anomaly has never been described in an adult individual. We report this unusual anomaly and discuss its anatomical and pathophysiological significance and possible ways to differentiate from single coronary artery. Copyright © 2015 Cardiological Society of India. Published by Elsevier B.V. All rights reserved.

Bifurcation to large period oscillations in physical systems controlled by delay

NASA Astrophysics Data System (ADS)

Erneux, Thomas; Walther, Hans-Otto

2005-12-01

An unusual bifurcation to time-periodic oscillations of a class of delay differential equations is investigated. As we approach the bifurcation point, both the amplitude and the frequency of the oscillations go to zero. The class of delay differential equations is a nonlinear extension of a nonevasive control method and is motivated by a recent study of the foreign exchange rate oscillations. By using asymptotic methods, we determine the bifurcation scaling laws for the amplitude and the period of the oscillations.

Water intake and risk of hyponatraemia in Prader-Willi syndrome.

PubMed

Akefeldt, A

2009-06-01

Unusual water intake and drinking behaviour has occasionally been observed in individuals with Prader-Willi syndrome (PWS). The aim of this study is to explore whether this observation is a part of the PWS phenotype and what the consequences may be. The parents of 51 individuals with PWS (age range 2-40 years) were asked by questionnaire to answer on past and present water intake, drinking behaviour, fluid preferences and medical treatment in their PWS-affected and unaffected children. Questionnaires with information on 47 PWS individuals and 17 without PWS were returned for analysis. The questionnaire information was complemented with information from the individual's medical records. Siblings to PWS individuals made up the control group. The study was approved by the regional medical research ethics committee. During infancy, 36 (76%) individuals with PWS disliked water without any flavouring and had an extremely small daily intake of water. Seven individuals (15%) increased the daily water intake to unusually high amounts. In 45 the clinical PWS diagnosis was confirmed by molecular (genetic) testing: nine of them with a confirmed PWS diagnosis had a deletion of chromosome 15q11-13, in nine individuals no deletion was identified. The majority of individuals who increased their water consumption to extreme values belonged to the non-deletion group. Two in the non-deletion group developed hyponatraemia while receiving psychiatric medication. Infants with PWS seem to be predisposed to unusual drinking behaviour. They dislike and have an unusually small intake of pure water without flavouring, and most of them continue this even after infancy. Some individuals, especially those without deletion, increase their fluid intake and also accept pure water. They have an increased risk of developing water retention and severe hyponatraemia if exposed to medication known to cause side effects like the syndrome of inappropriate antidiuretic hormone secretion. Perhaps this behaviour is just secondary to overeating; perhaps it is a result of a dysfunction of the hypothalamic nuclei engaged in antidiuretic hormone production.

Who Can You Trust? Protecting Your Organization from Internal Fraud.

ERIC Educational Resources Information Center

Lukaszewski, Thomas E.

1997-01-01

Discusses how to protect a child care organization from employee fraud. Differentiates employee and management fraud and examines reasons fraud is committed. Suggests procedures for protecting an organization from fraud, including establishing an effective internal control system, paying attention to unusual employee behavior, reviewing expense…

Contrast-Enhanced Ultrasonography in Differential Diagnosis of Benign and Malignant Ovarian Tumors

PubMed Central

Qiao, Jing-Jing; Yu, Jing; Yu, Zhe; Li, Na; Song, Chen; Li, Man

2015-01-01

Objective To evaluate the accuracy of contrast-enhanced ultrasonography (CEUS) in differential diagnosis of benign and malignant ovarian tumors. Methods The scientific literature databases PubMed, Cochrane Library and CNKI were comprehensively searched for studies relevant to the use of CEUS technique for differential diagnosis of benign and malignant ovarian cancer. Pooled summary statistics for specificity (Spe), sensitivity (Sen), positive and negative likelihood ratios (LR+/LR−), and diagnostic odds ratio (DOR) and their 95%CIs were calculated. Software for statistical analysis included STATA version 12.0 (Stata Corp, College Station, TX, USA) and Meta-Disc version 1.4 (Universidad Complutense, Madrid, Spain). Results Following a stringent selection process, seven high quality clinical trials were found suitable for inclusion in the present meta-analysis. The 7 studies contained a combined total of 375 ovarian cancer patients (198 malignant and 177 benign). Statistical analysis revealed that CEUS was associated with the following performance measures in differential diagnosis of ovarian tumors: pooled Sen was 0.96 (95%CI = 0.92∼0.98); the summary Spe was 0.91 (95%CI = 0.86∼0.94); the pooled LR+ was 10.63 (95%CI = 6.59∼17.17); the pooled LR− was 0.04 (95%CI = 0.02∼0.09); and the pooled DOR was 241.04 (95% CI = 92.61∼627.37). The area under the SROC curve was 0.98 (95% CI = 0.20∼1.00). Lastly, publication bias was not detected (t = −0.52, P = 0.626) in the meta-analysis. Conclusions Our results revealed the high clinical value of CEUS in differential diagnosis of benign and malignant ovarian tumors. Further, CEUS may also prove to be useful in differential diagnosis at early stages of this disease. PMID:25764442

Postcontrast T1 Mapping for Differential Diagnosis of Recurrence and Radionecrosis after Gamma Knife Radiosurgery for Brain Metastasis.

PubMed

Wang, B; Zhang, Y; Zhao, B; Zhao, P; Ge, M; Gao, M; Ding, F; Xu, S; Liu, Y

2018-06-01

The differential diagnosis of radionecrosis and tumor recurrence in brain metastases is challenging. We investigated the diagnostic efficiency of postcontrast T1 mapping in solving this problem. Between March 2016 and June 2017, fifty-six patients with brain metastases who underwent contrast-enhanced cerebral T1 mapping were recruited for this prospective study. The findings revealed new enhancement after gamma knife radiosurgery. The subjects were assigned to radionecrosis and recurrence groups based on follow-up (median, 11.5 months) and histopathologic results. T1 values of lesions 5 (T1 5min ) and 60 (T1 60min ) minutes after administration of contrast agent and their difference (T1 differ ) were compared between the 2 groups with the 2-tailed Mann-Whitney U test. Receiver operating characteristic curves were used to determine the optimum cutoff values for differential diagnosis. There were significant differences between the 2 groups in T1 5min , T1 60min , and T1 differ values ( P = .012, P = .004, and P < .001, respectively). Relative to T1 5min and T1 60min , T1 differ exhibited greater sensitivity and specificity ( P < .001, respectively) in identifying radionecrosis. The optimum T1 differ value for differential diagnosis was 71.1 ms (area under the curve = 0.97; 95% CI, 0.93-1.00), with sensitivity and specificity of 81.5% and 96.5%, respectively. Postcontrast T1 mapping is optimal for the differential diagnosis of radionecrosis and tumor recurrence. Among T1 parameters, T1 differ is the most powerful parameter for differential diagnosis. Advantages in terms of quantitative analysis and high resolution portend the wide use of postcontrast T1 mapping in the future. © 2018 by American Journal of Neuroradiology.

Differential diagnosis in inflammatory bowel disease colitis: State of the art and future perspectives

PubMed Central

Tontini, Gian Eugenio; Vecchi, Maurizio; Pastorelli, Luca; Neurath, Markus F; Neumann, Helmut

2015-01-01

Distinction between Crohn’s disease of the colon-rectum and ulcerative colitis or inflammatory bowel disease (IBD) type unclassified can be of pivotal importance for a tailored clinical management, as each entity often involves specific therapeutic strategies and prognosis. Nonetheless, no gold standard is available and the uncertainty of diagnosis may frequently lead to misclassification or repeated examinations. Hence, we have performed a literature search to address the problem of differential diagnosis in IBD colitis, revised current and emerging diagnostic tools and refined disease classification strategies. Nowadays, the differential diagnosis is an untangled issue, and the proper diagnosis cannot be reached in up to 10% of patients presenting with IBD colitis. This topic is receiving emerging attention, as medical therapies, surgical approaches and leading prognostic outcomes require more and more disease-specific strategies in IBD patients. The optimization of standard diagnostic approaches based on clinical features, biomarkers, radiology, endoscopy and histopathology appears to provide only marginal benefits. Conversely, emerging diagnostic techniques in the field of gastrointestinal endoscopy, molecular pathology, genetics, epigenetics, metabolomics and proteomics have already shown promising results. Novel advanced endoscopic imaging techniques and biomarkers can shed new light for the differential diagnosis of IBD, better reflecting diverse disease behaviors based on specific pathogenic pathways. PMID:25574078

Intrinsic epidermoid of the brain stem: case report and review of the literature.

PubMed

Singh, Saraj K; Jain, Kapil; Jain, Vijendra Kumar

2018-03-19

Purely cystic brain stem epidermoid is a rare diagnosis among all brainstem cystic lesions. Further, it is very rare in pediatric age group. Here, we are reporting a rare case of completely cystic brain stem epidermoid in a child. The patient presented with clinical features of brain stem involvement. MRI brain was suggestive of cystic brain stem lesion. Patient went through surgical procedure. Final diagnosis of epidermoid cyst was confirmed on histopathological report. With the help of various advanced sequences of MRI like diffusion and ADC, diagnosis of epidermoid cyst can be established at unusual intracranial site also. Surgical resection of epidermoid cyst at brain stem should be attempted judiciously utilizing all modern tools of neurosurgery.

Malakoplakia mimics urinary bladder cancer: a case report.

PubMed

Ristić-Petrović, Ana; Stojnev, Slavica; Janković-Velicković, Ljubinka; Marjanović, Goran

2013-06-01

Malakoplakia is an unusual and very rare chronic inflammatory disease. In bladder especially it can mimic malignancy and lead to serious misdiagnosis. We presented a case of a middle-aged woman with persistent macrohematuria and cystoscopically polypoid bladder mass that resembled a neoplastic process. The final diagnosis was based on cystoscopic biopsy and microscopic findings of acidophilic, foamy histiocytes with the presence of Michaelis-Gutmann inclusions which are characteristic for diagnosis of malakoplakia. Immunohistochemistry confirmed diagnosis by demonstrating CD68-positive macrophages. Urinary bladder malakoplakia should be considered in patients with persistent urinary tract infections and tumor mass at cystoscopy. Early identification with prompt antibiotic treatment can be helpful in avoiding unnecessary surgical interventions and in preventing development of possible complications.

A painful perineal lump: an unusual case of ectopic breast tissue

PubMed Central

Yongue, G; Leff, D; Lamb, BW; Karim, S; Aref, F; Vashisht, R

2011-01-01

We report the case of a 40-year-old lady who presented with an episodically painful perineal lump. Clinical and radiological investigations were inconclusive. Excision biopsy confirmed an ectopic breast mass. Ectopic breast tissue is difficult to diagnose but close attention to clinical findings can help to guide further investigation and diagnosis. PMID:22004627

Late prostatic metastasis of an uveal melanoma in a miniature Schnauzer dog.

PubMed

Delgado, Esmeralda; Silva, João X; Pissarra, Hugo; Peleteiro, Maria C; Dubielzig, Richard R

2016-07-01

This manuscript describes a previously unreported clinical case of canine uveal melanoma in a miniature Schnauzer dog with an unusual location of metastasis (prostate) and delayed occurrence (3 years after primary tumor diagnosis and enucleation). Immunohistochemical labeling of both tumors with Melan A, Ki-67, and c-kit added some valuable information.

Oral purpura as the first manifestation of primary systemic amyloidosis.

PubMed

McCormick, Robert Stuart; Sloan, Philip; Farr, David; Carrozzo, Marco

2016-07-01

Oral blood blisters and purpura are rare features of primary systemic amyloidosis (amyloid light-chain (AL) amyloidosis). We report a case in which these unusual presentations led to a diagnosis of amyloidosis, which enabled effective treatment before organ failure. Copyright © 2015 The British Association of Oral and Maxillofacial Surgeons. Published by Elsevier Ltd. All rights reserved.

Heterotopic Prostate at Autopsy- An Unusual Mass at the Dome of the Urinary Bladder.

PubMed

Munde, Shital; Fernandes, Gwendolyn; Phadnis, Priyanka

2017-09-01

Heterotopic prostate in the dome of the urinary bladder is extremely rare and difficult to diagnose. It is often mistaken for neoplastic masses and histopathological examination is warranted for diagnosis. We report an autopsy case of an ectopic prostate at the dome of the bladder which mimicked a neoplasm on gross pathology.

Feline-transmitted sporotrichosis: A case study from California.

PubMed

Rees, Rachel K; Swartzberg, John E

2011-06-15

We report a case of cat-associated sporotrichosis in an adult female in California. A retrospectively diagnosed cutaneous sporotrichosis infection in the patient's cat and the unusual site of the primary lesion in the patient contributed to delayed diagnosis and treatment. Here, we also review the English literature regarding the epidemiology of Sporothrix schenkii as a cat-associated zoonosis.

A practical approach to acute hemiparesis in children.

PubMed

Bhate, Sanjay; Ganesan, Vijeya

2015-08-01

Acute hemiparesis in children is a common clinical syndrome presenting to a variety of care settings. The recognition and the differential diagnosis is challenging, particularly in young children. Arterial ischaemic stroke (AIS) is the primary diagnosis to be considered as this requires emergency investigations and management; however, there are several conditions collectively described as 'stroke mimics' that need consideration. Accurate diagnosis is essential for appropriate management. Clinical data combined with neuroimaging are important for accurate diagnosis and management. This review and the accompanying illustrative case vignettes suggest a practical approach to differential diagnosis and management of children presenting with acute hemiparesis. © 2015 Mac Keith Press.

[Manual-medical differential diagnosis of low back pain including osteopathic procedures].

PubMed

Buchmann, J; Arens, U; Harke, G; Smolenski, U C; Kayser, R

2012-06-01

The differential diagnostic evaluation of painful functional disorders of the lumbosacral and lumbopelvic region, i. e. the so-called “low back pain” is very extensive, but is often reduced to the question of chronicity. The manual medical diagnosis can make a valuable contribution in such cases for determination of structural and functional pathology. Early application of manual medical therapies seems to be effective for peracute complaints. The mobilization of restrictions of the pelvic visceral attachments should be included. In the following review manual medical syndromes are presented that summarize the findings from the musculoskeletal and visceral system. This is intended to facilitate the primary differential diagnostic evaluation, as well as treatment planning. The combination with osteopathic methods is very profitable. A necessary specialist differential diagnosis remains essential.

Two interesting cases highlighting an oblivious specialty of psychoneuroendocrinology.

PubMed

Hari Kumar, K V S; Dhull, Pawan; Somasekharan, Manoj; Seshadri, K

2012-01-01

Psychoneuroendocrinology deals with the overlap disorders pertaining to three different specialties. Awareness about the somatic manifestations of psychiatric diseases and vice versa is a must for all the clinicians. The knowledge of this interlinked specialty is essential because of the obscure presentation of certain disorders. Our first case was treated as depressive disorder, whereas the diagnosis was hypogonadism with empty sella. Our second patient was managed as schizophrenia and the evaluation revealed bilateral basal ganglia calcification and a diagnosis of Fahr's disease. We report these cases for their unusual presentation and to highlight the importance of this emerging specialty.

Melorheostosis and FGF-23: is there a relationship?

PubMed

Kerkeni, Samar; Chapurlat, Roland

2008-07-01

Melorheostosis is a rare chronic bone disease of unknown etiology that often affects lower limbs. Onset usually occurs in childhood or early adolescence. The diagnosis relies on the radiographic finding of hyperostosis within or around the cortex responsible for a "flowing wax" appearance. To our knowledge, Fibroblast growth factor-23 (FGF-23) levels have not yet been quantified in melorheostosis. We report an unusual case of this disease for whom the diagnosis of fibrous dysplasia had been wrongly made for a long period of time and the FGF-23 concentration has been found very high without any disturbance of serum phosphate.

Current Treatment Options for Penile Fractures

PubMed Central

Jack, Gregory S; Garraway, Isla; Reznichek, Richard; Rajfer, Jacob

2004-01-01

The diagnosis of “penile fracture” describes the traumatic rupture of the tunica albuginea of an erect penis. Penile fractures typically occur when the engorged penile corpora are forced to buckle and literally “pop” under the pressure of a blunt sexual trauma. Patients typically describe immediate detumescence, severe pain, and swelling as a result of the injury. Prompt surgical exploration and corporal repair is the most efficacious therapy. Although a majority of cases can be diagnosed from the history and physical examination alone, radiographic studies, including retrograde urethrography and corporal cavernosography can aid in the diagnosis of unusual cases. PMID:16985591

[Munchausen syndrome by proxy, an unusual presentation].

PubMed

Maida, A M; Molina, M E; Erazo, R

2001-08-01

We report a 12 year old girl that first consulted for fever with bilateral knee arthralgias. A neurological workout was started due to a progressive gait disturbance, but all results were incongruent with nerve or nerve root lesions, leading to the diagnosis of a functional paralysis. The patient worsened to the point of prostration. Due to the suspicion that the mother was inducing the symptoms, the patient was admitted to the hospital, where she improved notably. She was discharged walking. The improvement during hospital stay confirmed the diagnosis of a Münchausen by proxy syndrome, mimicking a disabling neurological condition.

An Unusual Right-sided Suprarenal Accessory Spleen Misdiagnosed as an Atypical Pheochromocytoma.

PubMed

Xia, Zenan; Zhou, Zhien; Shang, Zhiyuan; Ji, Zhigang; Yan, Weigang

2017-12-01

Compared with left suprarenal splenosis, a right suprarenal accessory spleen is more likely to be misdiagnosed as an adrenal tumor because of its extreme rarity. Especially when splenosis mimics an atypical pheochromocytoma, preoperative diagnosis may become more difficult and elusive. Herein we report the case of a female patient with a right suprarenal mass, which was suspected to be an atypical pheochromocytoma based on a history of the classic triad and positive somatostatin receptor scintigraphy, but histopathology suggested a final diagnosis of right suprarenal splenosis. Copyright © 2017 Elsevier Inc. All rights reserved.

Chylous ascites: a sequel of pelvic radiation therapy

DOE Office of Scientific and Technical Information (OSTI.GOV)

Sipes, S.L.; Newton, M.; Lurain, J.R.

1985-12-01

Chylous ascites is an unusual condition with many causes. Two cases are presented in which it appeared to be related to whole pelvis irradiation in one patient for carcinoma of the vagina and in another for carcinoma of the vulva. The diagnosis is made by paracentesis and analysis of the fluid. The underlying disease usually requires identification by exploratory laparotomy. Although a malignant process is the most common cause, the only findings in the authors' cases were widespread radiation changes in the intestine. After diagnosis treatment by low-fat diet with medium-chain triglyceride supplements resulted in disappearance of chylous ascites.

Neurocognitive differential diagnosis of dementing diseases: Alzheimer's Dementia, Vascular Dementia, Frontotemporal Dementia, and Major Depressive Disorder.

PubMed

Braaten, Alyssa J; Parsons, Thomas D; McCue, Robert; Sellers, Alfred; Burns, William J

2006-11-01

Similarities in presentation of Dementia of Alzheimer's Type, Vascular Dementia, Frontotemporal Dementia, and Major Depressive Disorder, pose differential diagnosis challenges. The current study identifies specific neuropsychological patterns of scores for Dementia of Alzheimer's Type, Vascular Dementia, Frontotemporal Dementia, and Major Depressive Disorder. Neuropsychological domains directly assessed in the study included: immediate memory, delayed memory, confrontational naming, verbal fluency, attention, concentration, and executive functioning. The results reveal specific neuropsychological comparative profiles for Dementia of Alzheimer's Type, Vascular Dementia, Frontotemporal Dementia, and Major Depressive Disorder. The identification of these profiles will assist in the differential diagnosis of these disorders and aid in patient treatment.

Diagnosis of extraskeletal myxoid chondrosarcoma in the thigh using EWSR1-NR4A3 gene fusion: a case report.

PubMed

Kobayashi, Hiroki; Kikuta, Kazutaka; Sekita, Tetsuya; Susa, Michiro; Nishimoto, Kazumasa; Sasaki, Aya; Kameyama, Kaori; Sugita, Shintaro; Hasegawa, Tadashi; Nakamura, Masaya; Matsumoto, Morio; Morioka, Hideo

2016-11-10

Extraskeletal myxoid chondrosarcoma is a rare soft tissue sarcoma that has unusual ultrastructural and molecular features. However, unlike other soft tissue sarcomas, it does not have specific clinical symptoms or radiological features, which can make its diagnosis difficult. Nevertheless, extraskeletal myxoid chondrosarcoma has a rare gene fusion (EWSR1-NR4A3) that is useful for making a differential diagnosis. A 43-year-old Japanese man presented with a soft tissue mass in his right thigh. A physical examination and radiography revealed a large soft tissue mass. During magnetic resonance imaging, the mass exhibited isointensity on T1-weighted images and high intensity on T2-weighted images, as well as gadolinium enhancement at the side edge of the partition structure. Thus, we considered a possible diagnosis of a malignant myxoid soft tissue tumor, such as myxoid liposarcoma, myxofibrosarcoma, or metastatic carcinomas, including myoepithelial tumor and neuroendocrine tumor, and performed an incisional biopsy to make a definitive diagnosis. The pathological findings revealed a lobulated tumor with a myxoid structure and atypical spindle-shaped cells that created eosinophilic cord-like forms. Immunohistochemistry revealed that the tumor was positive for S-100 and negative for synaptophysin, chromogranin A, and pan keratin (AE1/AE3). The percentage of Ki-67 was 10 % in the hot spot area. Based on these clinicopathological findings, we initially considered the possibility of a myxoid liposarcoma, although we did not observe any lipoblasts. Therefore, we considered the possibility of an extraskeletal myxoid chondrosarcoma. As this tumor is very rare, we searched for the EWSR1-NR4A3 gene fusion using fluorescence in situ hybridization, which confirmed the diagnosis of extraskeletal myxoid chondrosarcoma. Positron emission tomography-computed tomography did not identify any obvious metastases, and we performed radical resection of our patient's vastus medialis and femur with a 3 cm margin. After the resection, we treated his resected femur using liquid nitrogen, and reconstructed his femur using autogenous fibula and plate fixation. No local recurrence or metastasis was observed at the 1-year follow-up. Genetic testing is useful for diagnosing extraskeletal myxoid chondrosarcoma based on the presence of the EWSR1-NR4A3 gene fusion.

The role of electrocardiogram in the diagnosis of dextrocardia with mirror image atrial arrangement and ventricular position in a young adult Nigerian in Ile-Ife: a case report.

PubMed

Ogunlade, Oluwadare; Ayoka, Abiodun O; Akomolafe, Rufus O; Akinsomisoye, Olumide S; Irinoye, Adedayo I; Ajao, Adewale; Asafa, Muritala A

2015-09-28

Dextrocardia with situs inversus is a rare congenital disease. In patients with this condition, the heart is presented as a mirror image of itself with its apex pointing to the right. The pulmonary and abdominal anatomies are reversed. Dextrocardia with situs inversus occurs at birth but its diagnosis may be in adulthood. This case advances knowledge by graphically describing the unusual electrocardiographic features of dextrocardia in a young adult. We report a case of a 22-year-old Nigerian man of Yoruba ethnicity who presented himself for preadmission medical test. He had a standard 12-lead electrocardiogram which revealed uncommon features: inversion of P waves in leads I, aVL and aVR; dominantly negative QRS waves in leads I, V1 to V6; reverse R wave progression in chest leads; low voltage in V4 to V6; extreme QRS axis; flattened T waves in V4 to V6 and aVR; and inverted T waves in lead I and aVL. An electrocardiogram diagnosis of dextrocardia was made. The differential diagnosis considered was right ventricular hypertrophy. A cardiovascular examination showed pulse rate of 70 beats per minute, blood pressure of 119/62mmHg, visible cardiac impulse at right precordium, apex beat was located at his fifth right intercostal space mid-clavicular line. A chest X-ray (posterior anterior view) including upper abdomen showed dextrocardia; his aortic arch was located on the right. His stomach bubble was located below his right hemidiaphragm. His trachea was slightly deviated to the left. The findings in his lung fields were not remarkable. Abdominopelvic ultrasonography showed that right-sided intra-abdominal organs (liver, gallbladder) were located on the left while left-sided organs (stomach, spleen) were located on the right. His abdominal aorta was on the right while his inferior vena cava was located on the left. A diagnosis of dextrocardia with situs inversus was made ultrasonographically. A properly interpreted electrocardiogram was useful in suspecting the diagnosis of dextrocardia with situs inversus. So, an analysis of a relatively simple and non-invasive diagnostic tool such as an electrocardiogram allows for suspicion of a cardiovascular anomaly in a setting of scarce diagnostic resources.

Clinical Value of Thyrotropin Receptor Antibodies for the Differential Diagnosis of Interferon Induced Thyroiditis.

PubMed

Benaiges, D; Garcia-Retortillo, M; Mas, A; Cañete, N; Broquetas, T; Puigvehi, M; Chillarón, J J; Flores-Le Roux, J A; Sagarra, E; Cabrero, B; Zaffalon, D; Solà, R; Pedro-Botet, J; Carrión, J A

2016-01-01

The clinical value of thyrotropin receptor antibodies for the differential diagnosis of thyrotoxicosis induced by pegylated interferon-alpha remains unknown. We analyzed the diagnostic accuracy of thyrotropin receptor antibodies in the differential diagnosis of thyrotoxicosis in patients with chronic hepatitis C (CHC) receiving pegylated interferon-alpha plus ribavirin. Retrospective analysis of 274 patients with CHC receiving pegylated interferon-alpha plus ribavirin. Interferon-induced thyrotoxicosis was classified according to clinical guidelines as Graves disease, autoimmune and non- autoimmune destructive thyroiditis. 48 (17.5%) patients developed hypothyroidism, 17 (6.2%) thyrotoxicosis (6 non- autoimmune destructive thyroiditis, 8 autoimmune destructive thyroiditis and 3 Graves disease) and 22 "de novo" thyrotropin receptor antibodies (all Graves disease, 2 of the 8 autoimmune destructive thyroiditis and 17 with normal thyroid function). The sensitivity and specificity of thyrotropin receptor antibodies for Graves disease diagnosis in patients with thyrotoxicosis were 100 and 85%, respectively. Patients with destructive thyroiditis developed hypothyroidism in 87.5% of autoimmune cases and in none of those with a non- autoimmune etiology (p<0.001). Thyrotropin receptor antibodies determination cannot replace thyroid scintigraphy for the differential diagnosis of thyrotoxicosis in CHC patients treated with pegylated interferon. © Georg Thieme Verlag KG Stuttgart · New York.

Disease of the year: juvenile idiopathic arthritis--differential diagnosis.

PubMed

Hu-Torres, Sandra; Foster, C Stephen

2014-02-01

The purpose of this review is to comprehensively explain the differential diagnosis of juvenile idiopathic arthritis-associated uveitis. Web-based literature review. Main diagnostic decisions are made through a thorough anterior segment exam and a comprehensive exploration of past medical and family history. High clinical suspicion of other uveitic entities occurring in children is necessary and must be excluded by the practitioner before immediate diagnosis of juvenile idiopathic arthritis is made.