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.

An unusual case of electrode misplacement: left arm and V(2) electrode reversal.

PubMed

García-Niebla, Javier; García, Pablo Llontop

2008-01-01

Accidental interchange between precordial and limb leads, although unusual, can be possible given that some of them share the same color. We present the case where interchange of V(2) and left arm cables produced significant electrocardiographic abnormalities, which created many doubts and discussion within the clinical team.

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.

Clinical characterization of unusual cystic echinococcosis in southern part of Turkey.

PubMed

Akcam, Atlgan Tolga; Ulku, Abdullah; Koltas, Ismail Soner; Izol, Volkan; Bicer, Omer Sunkar; Kilicbagir, Emine; Sakman, Gurhan; Poyrazoglu, Hakan; Erman, Tahsin; Aridogan, Ibrahim Atilla; Parsak, Cem Kaan; Inal, Mehmet; Iskit, Serdar

2014-01-01

The incidence of primary extrahepatic cystic echinococcosis (CE) is rare. Generally, radiological and serological findings can help establish the diagnosis of hepatic and pulmonary CE, but a CE in an unusual location with atypical radiological findings may complicate the differential diagnosis. The objective of this study is to present the characteristics of cases with extrahepatic CE in respect of sites of involvement, clinical presentations, radiological findings, serological diagnostic evaluations, and outcomes of infected patients. A retrospective analysis of surgically treated CE was conducted between January 1993 and January 2014 in the General Surgery, Pediatric Surgery, Urology, Cardiovascular Surgery, Neurosurgery, and Orthopedics departments of University of Cukurova, Faculty of Medicine, Balcal Hospital. Among the 661 patients managed for CE, 134 had unusual sites of involvement. Radiological and serological examinations were used to differentiate CE from alveolar echinococcosis. Of 134 cases with unusual sites of involvement, 32 cases had liver CE (23.9%), 7 cases had lung CE (5.2%), and 2 cases had concomitant liver and lung CE (1.5%). In 93 (69.4%) cases, unusual organ involvement was isolated without any liver or lung involvement. The mean age was 45 years. Abdominal pain was the main symptom and was found in 104 patients. Thirty-one (23.1%) of 134 extrahepatic CE cases were evaluated as negative with indirect hemagglutination (IHA). However, positive results were obtained in 54 cases evaluated with Echinococcus granulosus IgG Western blot (WB), including 10 IHA-negative cases. CE with unusual localizations may cause serious problems of diagnostic confusion. The combination of clinical history, radiological findings, and serological test results (especially the WB) are valuable in diagnosing extrahepatic CE.

Paracoccidioidomycosis: an unusual presentation in a young girl disclosing an unnoted HIV-infection.

PubMed

Marques, Silvio Alencar; Camargo, Rosangela M P; Abbade, Luciana P F; Fortaleza, Carlos Magno C B; Marques, Mariangela E A

2010-02-01

The association of paracoccidioidomycosis with AIDS is apparently less frequent than expected. The authors present an unusual case of paracoccidioidomycosis in a 13-year-old female student which was later found to be the first opportunistic infection in the course of the patient's HIV-infection. The clinical presentation followed an accidental incised wound on the palmar region initially described as a 'sporotrichotic-chancre'. After good response under sulfamethoxazole-trimethoprin, the patient relapsed and presented an associated oral candidiasis. HIV-infection was documented and additional investigation showed CD4(+) T-cells=22/mm(3), CD8(+)=280 cell/mm(3) and viral load=4,043 log. This case report presents an uncommon dermatological-clinical picture in the youngest patient in which such association has been reported to date.

[Granulomatous sporotrichosis: report of two unusual cases].

PubMed

Ramírez-Soto, Max; Lizárraga-Trujillo, José

2013-10-01

Sporotrichosis is a subcutaneous mycosis caused by Sporothrix complex, endemic in Abancay, Peru. Is acquired by traumatic inoculation with plant material. Common clinical presentations are lymphatic cutaneous and fixed cutaneous disease. We report 2 cases of fixed cutaneous sporotrichosis with granulomatous appearance. The first case was a patient of 65 years old with no risk factors and the second case was a 67 year old diabetic patient. Subjects underwent mycological culture with Sabouraud agar, with isolation of Sporothrix schenckii and clinical dignosis of fixed cutaneous sporotrichosis with granulomatous appearance. One patient received oral treatment with saturated solution of potassium iodide (SSKI) with a initial dose of 3 drops tid up to a maximum dose of 40 drops tid. Mycological and clinical cure was achieved after 2 months of treatment. We should consider the unusual clinical presentations of fixed cutaneous sporotrichosis with granulomatous appearance that present morphological and clinical features in diabetic and nondiabetic patients older than 60 years from endemic areas and communicate adequate response to treatment with SSKI in one case.

Hypophosphatemic osteomalacia: an unusual clinical presentation of multiple myeloma.

PubMed

Reyskens, M; Sleurs, K; Verresen, L; Janssen, M; van den Bergh, J; van den Berg, J; Geusens, P

2015-07-01

An unusual case of a 75-year-old man is presented who had multiple stress fractures due to adult onset hypophosphatemic osteomalacia, which was the result of Fanconi syndrome, with light chain cast proximal tubulopathy due to multiple myeloma. A 75-year-old man presented with diffuse pain and muscle weakness. He had multiple stress fractures, low serum phosphate, decreased renal tubular reabsorption of phosphate, and normal PTH and FGF23, indicating adult onset hypophosphatemic osteomalacia. Phosphate supplements with calcitriol resulted in clinical recovery and healing of stress fractures. Because of proteinuria, a renal biopsy was performed that revealed Fanconi syndrome with light chain cast proximal tubulopathy and light kappa chains were found in serum and urine. A bone biopsy confirmed the diagnosis of multiple myeloma, and treatment with chemotherapy resulted in cytological and clinical recovery.

An unusual case of primary spontaneous tension pneumothorax in a jamaican female.

PubMed

Johnson, M; French, S; Cornwall, D

2014-06-01

Spontaneous pneumothorax is a well-recognized entity with a classical presentation of acute onset chest pain and shortness of breath. It may be complicated by the development of a tension pneumothorax or a haemopneumothorax. We report an interesting case of a spontaneous tension haemopneumothorax which presented atypically and was diagnosed on computed tomography (CT) scan of the chest. The clinical and pathophysiological characteristics and treatment of this unusual entity is discussed.

Bronchogenic cyst presenting as a symptomatic neck mass in an adult: case report and review of the literature.

PubMed

Al-kasspooles, Mazin F; Alberico, Ronald A; Douglas, Wade G; Litwin, Alan M; Wiseman, Sam M; Rigual, Nestor R; Loree, Thom R; Hicks, Wesley L

2004-12-01

We report the unusual clinical manifestation and subsequent management of a symptomatic congenital bronchogenic cyst that connected to the trachea and presented in the neck of an adult. The embryology, clinical presentation, diagnostic evaluation, and management options of this rare aberration are discussed.

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.

Acute HIV infection presenting as hemophagocytic syndrome with an unusual serological and virological response to ART.

PubMed

Ferraz, Rita Veiga; Carvalho, Ana Cláudia; Araújo, Fernando; Koch, Carmo; Abreu, Cândida; Sarmento, António

2016-10-28

HIV clinical presentation in the acute stage is variable and some of its virological and immunological aspects are not completely understood. Most cases of HIV- associated reactive hemophagocytic syndrome have been reported in patients with advanced stages of HIV and to our knowledge, there are only 8 cases in the English literature presenting during acute HIV infection, most in East Asia, being this the first case in a European patient. We report a case of a European Caucasian 27- year old woman with a primary HIV- infection presenting with extremely low CD4+ T cell count who developed a haemophagocytic syndrome after starting ART and in whom we documented a very unusual serological and virological response, characterized by an impaired HIV- antibody production and a 12 month time frame to reach an undetectable viral load, despite no evidence of resistance. This case report apart from describing an unusual clinical presentation of an acute HIV infection as hemophagocytic syndrome provides useful information that might contribute for understanding some subtle issues in acute HIV infection, namely the dynamics of virological and immunological aspects after antiretroviral therapy initiation.

Unusual Dermatological Manifestations of Gout: Review of Literature and a Case Report

PubMed Central

Ortega, Viviana Gómez; Gaona, Jennifer; Motta, Adriana; Medina Barragán, Oskar Javier

2015-01-01

Background: Gouty panniculitis is a rare clinical manifestation of gout, characterized by deposits of monosodium urate crystals in the hypodermis. Our aim was to describe atypical and rare clinical presentations of gouty tophi. Methods: We searched relevant English and Spanish literature of unusual gout manifestations using the following keywords: giant, gout, panniculitis, gouty panniculitis, gouty tophi, rare manifestations of gout, gouty, tophi, tophus, monosodium urate, uric acid, and unusual. Well-described case reports, case series, and review articles were evaluated and included in the literature review. Results: International literature has reported fewer than 10 cases of gouty panniculitis worldwide. In this case report, the patient presents a rare manifestation of gouty panniculitis, with typical joint injuries, gouty tophi in both lower and upper extremities, chronic gouty tophi in the nose, for which only 3 cases have been reported in literature, and great hypertrophy of adipose tissue in the lower back. Conclusions: Tophi can be found in atypical locations, which increase morbidities and deformities caused by the disease. We report an interesting case of gouty panniculitis associated with great hypertrophy of the adipose tissue, a rare manifestation of gout, and unusual locations of tophi. These clinical manifestations in our patient have not been recorded before, which leads us to think that we are in the presence of a new dermatological manifestation of gout. PMID:26301134

Two Cases of Melasma with Unusual Histopathologic Findings

PubMed Central

Kang, Won-Hyoung

2006-01-01

We reported two cases of clinically typical melasma presenting with unusual histopathologic findings. In one case, the epidermal melanocytes were markedly increased in number and protruded into the dermis, and in the other case, increased epidermal pigmentation as well as dermal melanocytosis were found. We suggested that the various treatment modalities of melasma should be applied depend on its histopathologic finding. PMID:16614533

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

An Unusual Cause of Acute Upper Gastrointestinal Bleeding: Acute Esophageal Necrosis

PubMed Central

Tokala, Madhusudhan R.; Dhillon, Sonu; Pisoh, Watcoun-Nchinda; Walayat, Saqib; Vanar, Vishwas; Puli, Srinivas R.

2016-01-01

Acute esophageal necrosis (AEN), also called “black esophagus,” is a condition characterized by circumferential necrosis of the esophagus with universal distal involvement and variable proximal extension with clear demarcation at the gastroesophageal junction. It is an unusual cause of upper gastrointestinal bleeding and is recognized with distinct and striking mucosal findings on endoscopy. The patients are usually older and are critically ill with shared comorbidities, which include atherosclerotic cardiovascular disease, diabetes mellitus, hypertension, chronic renal insufficiency, and malnutrition. Alcoholism and substance abuse could be seen in younger patients. Patients usually have systemic hypotension along with upper abdominal pain in the background of clinical presentation of hematemesis and melena. The endoscopic findings confirm the diagnosis and biopsy is not always necessary unless clinically indicated in atypical presentations. Herein we present two cases with distinct clinical presentation and discuss the endoscopic findings along with a review of the published literature on the management of AEN. PMID:27642529

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

Pheochromocytoma of the Urinary Bladder - A Case Report of an Unusual Presentation.

PubMed

Nerli, Rajendra B; Magdum, Prasad V; Patil, Amey Y; Devraju, Shishir; Hiremath, M B

2015-09-01

Urinary bladder pheochromocytoma is rare. We report a case of bladder pheochromocytoma presenting with practically no obvious clinical symptoms in an adolescent who had undergone repair of mitral valve disease.

An unusual presentation of papillary fibroelastoma originating from right ventricular outflow tract.

PubMed

Erdogan, Mehmet; Guney, Murat Can; Ayhan, Hüseyin; Kasapkara, Hacı Ahmet; Uğuz, Emrah; Durmaz, Tahir; Keleş, Telat; Bozkurt, Engin

2017-03-01

Papillary fibroelastomas (PFEs) are primary cardiac tumors with a benign and avascular nature. Majority of the PFEs are originated from the valvular endocardium, while the most common site is aortic valve. In this case, we present a patient with multiple PFEs originating from the right ventricular outflow tract who was admitted to our clinic with exertional dyspnea. As far as we know, this is the first case of this unusual presentation of multiple PFEs and also had a history of breast cancer and permanent pacemaker reported in the literature. © 2017, Wiley Periodicals, Inc.

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.

An unusual case of hematemesis and epistaxis caused by a pheochromocytoma.

PubMed

Ugur, Kader; Girgin, Mustafa; Bahcecioglu, İbrahim Halil; Artas, Hakan; Selcuk Simsek, Fikri; Aydin, Suleyman

2018-01-01

Pheochromocytoma is a rare catecholamine-secreting neoplasm that is the cause of hypertension in <0.2% of patients with hypertension. We encountered an unusual case of pheochromocytoma involving hematemesis and epistaxis episodes with accompanying hypertensive attacks. Venous ectasia was detected in the esophagus. Abdominal magnetic resonance imaging revealed an adenoma in the left adrenal region. The present case illustrates that pheochromocytoma can mimic different clinical conditions.

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.

Unusual multifocal granulomatous disease caused by actinomycetous bacteria in a nestling Derbyan parrot (Psittacula derbiana).

PubMed

Park, F J; Jaensch, S

2009-01-01

A nestling Derbyan parrot (Psittacula derbiana) was presented with unusual subcutaneous swellings of the thigh regions, and poor growth. Histological examination revealed actinomycetous bacteria associated with multifocal systemic granulomas. The clinical and pathological findings of the case are presented, and some relevant aspects of actinomycetous bacterial infections in mammals and birds are discussed. Although granulomatous disease is encountered at times in avian species, the actinomycetous bacteria (Nocardia and Actinomyces spp.) have rarely been reported in association with multifocal granulomatous disease in birds.

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.

Juvenile xanthogranuloma: an unusual cause of intratesticular mass in childhood.

PubMed

Weiss, Vivian L; Brock, John W; Cajaiba, Mariana M

2014-05-01

Juvenile xanthogranuloma (JXG) is a common histiocytic disorder of infancy and early childhood, most frequently presenting with cutaneous lesions. Whereas involvement of several visceral sites is well documented, only 4 cases of primary testicular JXG have been reported. Although this benign disorder typically presents with a favorable clinical outcome, the unusual presentation as an intratesticular lesion can lead to diagnostic challenges. In this study, we present the case of a 6-month-old male child with an incidentally discovered testicular mass that was diagnosed as a JXG and briefly review the existing literature in an attempt to bring awareness to this uncommon presentation. Copyright © 2014 Elsevier Inc. All rights reserved.

Scleroderma and pseudo-scleroderma: uncommon presentations.

PubMed

Haustein, Uwe-Frithjof

2005-01-01

Scleroderma is characterized by major clinical symptoms, but a number of unrelated disease may mimic these features more or less completely. Even scleroderma itself sometimes presents in an unusual manner. This article deals with uncommon presentations of true scleroderma and its variants and pseudo -scleroderma diseases.

An Unusual Transorbital Penetrating Injury and Principles of Management

PubMed Central

Dekker, Andrew Peter; El-Sawy, Abdel Hamid; Rejali, Darius Stephen

2014-01-01

The objective of this study was to present an unusual low velocity transorbital penetrating injury. The study design was a clinical record (case report). A 38-year-old gentleman tripped and fell face first onto the wing of an ornamental brass eagle. This penetrated the inferomedial aspect of the right orbit, breaching the lamina papyracea to extend into the ethmoid sinuses and reaching the dura of the anterior cranial fossa. The foreign body was removed in theater under a joint ophthalmology and ENT procedure. The patient was left with reduced visual acuity in the right eye but no other long-term sequelae. Transorbital penetrating injury presents unusual challenges to investigation and management requiring a multidisciplinary approach to prevent significant morbidity and mortality. If managed well the prognosis is good. PMID:25383154

An unusual transorbital penetrating injury and principles of management.

PubMed

Dekker, Andrew Peter; El-Sawy, Abdel Hamid; Rejali, Darius Stephen

2014-12-01

The objective of this study was to present an unusual low velocity transorbital penetrating injury. The study design was a clinical record (case report). A 38-year-old gentleman tripped and fell face first onto the wing of an ornamental brass eagle. This penetrated the inferomedial aspect of the right orbit, breaching the lamina papyracea to extend into the ethmoid sinuses and reaching the dura of the anterior cranial fossa. The foreign body was removed in theater under a joint ophthalmology and ENT procedure. The patient was left with reduced visual acuity in the right eye but no other long-term sequelae. Transorbital penetrating injury presents unusual challenges to investigation and management requiring a multidisciplinary approach to prevent significant morbidity and mortality. If managed well the prognosis is good.

Unusual benign polypoid and papular neoplasms and tumor-like lesions of the vulva.

PubMed

AbdullGaffar, Badr; Keloth, Tasnim R; Raman, Lakshmiah G; Mahmood, Suaad; Almulla, Amal; AlMarzouqi, Mamoun; Al-Hasani, Salam

2014-04-01

We aimed to investigate the prevalence and spectrum of unusual benign neoplasms and tumor-like lesions presenting as vulvar polyps and papules, to study their clinical, pathologic, hormonal, and developmental features and whether they have important associations with other pathologic lesions or clinical diseases. We conducted a retrospective review study of 115 vulvar specimens over 7 years. Common lesions, for example, fibroepithelial polyps, skin tags, papillomas, abscesses, viral warts and common cysts, were excluded. We found 21 cases (18%) with uncommon benign vulvar lesions. They included 7 epithelial cysts, 3 vascular lesions, 3 glandular neoplasms, 3 endometrioses, 1 caruncle, 1 pilonidal sinus, 1 prolapsed urethra, 1 seborrheic keratosis, and 1 granular cell tumor. The age range was between 1 and 64 years with a mean age of 33 years. Most (86%) were 2.5 cm or less. Many were asymptomatic incidental pathologic findings that can be missed clinically. Nine cases have important clinical associations or coexisting incidental pathologic lesions. Some lesions demonstrated hormone receptors. Some were clinically confused with fibroepithelial polyps, abscesses, warts, melanocytic lesions, and tumors. In conclusion, although the vulva is a small compartment, its developmental and histologic complexity can result in a variety of unusual and rare benign polypoid and papular lesions, some unique to the vulva, which might present diagnostic challenges to the clinicians and pathologists. In addition, many bear controversy regarding their histogenesis and origin of development in the vulva. Copyright © 2014 Elsevier Inc. All rights reserved.

Lightning injury: a review.

PubMed

Ritenour, Amber E; Morton, Melinda J; McManus, John G; Barillo, David J; Cancio, Leopoldo C

2008-08-01

Lightning is an uncommon but potentially devastating cause of injury in patients presenting to burn centers. These injuries feature unusual symptoms, high mortality, and significant long-term morbidity. This paper will review the epidemiology, physics, clinical presentation, management principles, and prevention of lightning injuries.

The trigeminal trophic syndrome: an unusual cause of nasal ulceration.

PubMed

Monrad, Seetha U; Terrell, Jeffrey E; Aronoff, David M

2004-06-01

Trigeminal trophic syndrome (TTS) is an unusual complication after peripheral or central damage to the trigeminal nerve, characterized by anesthesia, paresthesias, and ala nasi ulceration. We describe a patient with classic TTS after trigeminal rhizotomy who underwent several extensive evaluations for nasal ulceration and received prolonged immunosuppressive therapy for a presumed autoimmune disorder before the correct diagnosis was made. An understanding of the predisposing factors and clinical presentation of TTS is important to ensure a timely diagnosis of this difficult-to-treat illness. Differentiation of TTS from malignancy, infection, or vasculitis is possible on the basis of clinical history, tissue biopsy, and serologic evaluation.

Unusual Case of Gunshot Injury to the Face

PubMed Central

Guruprasad, Yadavalli; Giraddi, Girish

2011-01-01

An unusual case of facial gunshot injury with the missile lodged in the cervical spine region, but without any neurological impairment, is reported. The extent of tissue damage and missile track termination in a male patient who sustained gunshot trauma to the face was assessed by plain radiography and by computed tomography scans. The patient was treated conservatively and observed for clinical manifestations of neurological deficit for one year. We present a case of gunshot injury to the face with the missile lodged in the cervical spine region and atypical absence of clinical manifestation that may occur even when a bullet remains in the vicinity of the cervical spine. PMID:21915384

Patients Reporting Ritual Abuse in Childhood: A Clinical Syndrome. Report of 37 Cases.

ERIC Educational Resources Information Center

Young, Walter C.; And Others

1991-01-01

Thirty-seven adult dissociative disorder patients who reported ritual abuse in childhood by satanic cults are described. A clinical syndrome is presented that includes dissociative states with satanic overtones, posttraumatic stress disorder, survivor guilt, unusual fears, and substance abuse. Questions concerning reliability, credibility, and…

Cardiac Paraganglioma Arising From the Right Atrioventricular Groove in a Paraganglioma-Pheochromocytoma Family Syndrome With Evidence of SDHB Gene Mutation: An Unusual Presentation.

PubMed

Del Forno, Benedetto; Zingaro, Carlo; Di Palma, Enza; Capestro, Filippo; Rescigno, Giuseppe; Torracca, Lucia

2016-09-01

Primary cardiac paragangliomas are extremely rare. Recently this neoplasm has been associated with a familiar syndrome as a result of mutation of genes that encode proteins in the mitochondrial complex II. We report a case of a 46-year-old woman having cases of vertebral paraganglioma in her family showing an unusual anatomic and clinical presentation of cardiac paraganglioma and expressing a genetic mutation never associated before with cardiac localization of this neoplasm. Copyright © 2016 The Society of Thoracic Surgeons. Published by Elsevier Inc. All rights reserved.

Urologic sequelae of childhood genitourinary trauma and abuse in men: principles of recognition with fifteen case illustrations.

PubMed

McCarty, T; Roberts, L W; Hendrickson, K

1996-05-01

Providing urologic care to men who have been traumatized during childhood may be especially challenging because of the extent, severity, and unusual character of their urogenital problems. Recognition of past trauma entails attentiveness to patients' background and behaviors. As illustrated through these 15 cases, patients who present with too many past surgeries, too many unremitting urologic complaints, too little sexual function and too few genital parts, sexual impulses that are too strong, sexualized conduct in clinical settings, and self-destructive behaviors surrounding sexuality may have experienced trauma in the past. While empirical studies are necessary to demonstrate the ultimate utility of these categories, appreciation of these clinical indications improves the urologic care provided to traumatized men in four ways: by elucidating unusual and unusually recalcitrant urologic complaints, thereby clarifying clinical decisions; by allowing for appropriate use of psychiatric consultation; by promoting a better understanding of the sequelae of trauma in men; and by alleviating the discomfort naturally felt by urologists and their staff when caring for these difficult, multiproblem patients.

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.

Fibrolamellar hepatocellular carcinoma with ovarian metastasis - an unusual presentation.

PubMed

Ciurea, Silviu Horia; Matei, Emil; Stănescu, CodruŢ Silvian; Lupescu, Ioana Gabriela; Boroş, Mirela; Herlea, Vlad; Luca, Niculina Ioana; DorobanŢu, Bogdan Mihail

2017-01-01

Fibrolamellar carcinoma (FLC) has been considered a distinct clinical entity vs. hepatocellular carcinoma, with respect to its epidemiology, etiology, and prognosis. We describe the unusual case of a 23-year-old female patient with FLC and ovarian (Krukenberg) and peritoneal metastases, clinically mimicking an ovarian carcinoma. Multiple recurrences occurred despite initial R0 resection and chemotherapy, requiring surgical treatment. The patient survived five years and died from generalized disease. The particularities of our case are discussed by comparison with the other two similar cases and other date from the literature. To our knowledge, the ovarian involvement encountered in our case is the third case published in literature, being explained by the superficial location of the liver tumor.

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

Paracoccidioidomycosis in an HIV-positive patient: a case report with gingival aspects.

PubMed

Giovani, E M; Mantesso, A; Loducca, S V; Magalhães, M H

2000-09-01

Paracoccidioidomycosis is an important deep mycosis, endemic in some areas of the South American countryside, with great incidence in males bearing rural activities, being unusual in urban developed centres. Cell-mediated immunity is the main host defence against the P. brasiliensis, and HIV-positive patients have been increasingly affected by the disease, although only a few reports are available in the literature. We present a case of paracoccidiodomicosis in an HIV-positive female, with unusual clinical history and histopathological aspects.

An unusual case of fatal pulmonary hemorrhage in pregnancy.

PubMed

Dissanayake, N L A; Madegedara, Dushantha

2011-07-01

Rickettsial diseases are common in Srilanka. The spotted fever group of rickettsiae presents in many ways, including very severe disease causing significant morbidity and mortality. A regional variation of the Rickettsia conorii subspecies and differences in clinical presentations are reported. This case describes disseminated Rickettsia conorii infection in a pregnant woman presenting with endocarditis.

Acute abdomen: an unusual presentation of disseminated Penicillium marneffei infection.

PubMed

George, I A; Sudarsanam, T D; Pulimood, A B; Mathews, M S

2008-01-01

Varied clinical presentations of Penicillium marneffei, an opportunistic pathogen in HIV disease has been rarely described in literature. We report a patient with advanced AIDS who presented to us with prolonged fever and had features of an acute abdomen. On radiologic imaging he had features of intestinal obstruction and mesenteric lymphadenitis. A diagnosis was made possible by endoscopic biopsies of the small bowel and bone marrow culture which grew P. Marneffei. He was treated with intravenous amphotericin for 2 weeks followed by oral itraconazole. This case is reported for its rarity and unusual presentation and to sensitise clinicians and microbiologists to consider this as an aetiology in patients with advanced HIV/AIDS who present with acute abdomen, more so in patients from a distinct geographic region--South-East Asia.

Penile herpes zoster: an unusual location for a common disease.

PubMed

Bjekic, Milan; Markovic, Milica; Sipetic, Sandra

2011-01-01

Herpes zoster is a common dermatological condition which affects up to 20% of the population, most frequently involving the thoracic and facial dermatomes with sacral lesions occurring rarely and only a few reported cases of penile shingles. We report two cases of unusual penile clinical presentations of varicella zoster virus infection in immunocompetent men. The patients presented with grouped clusters of vesicles and erythema on the left side of penile shaft and posterior aspect of the left thigh and buttock, involving s2-s4 dermatomes. The lesions resolved quickly upon administration of oral antiviral therapy. Penile herpes zoster should not be overlooked in patients with unilateral vesicular rash.

Unusual presentation of splenic myelolipoma in a dog.

PubMed

Al-Rukibat, Raida K; Bani Ismail, Zuhair A

2006-11-01

A 13-year-old dog was presented with clinical signs of anemia, vomiting, weight loss, and progressive abdominal distension. Abdominal ultrasonography and radiography revealed a large mass, which was removed surgically. Cytologic and histologic evaluation of the mass revealed a mixture of fat and hematopoietic tissue, consistent with a splenic myelolipoma.

Saturday night blue--a case of near fatal poisoning from the abuse of amyl nitrite.

PubMed Central

Stambach, T; Haire, K; Soni, N; Booth, J

1997-01-01

A case of severe methaemoglobinaemia caused by the abuse of volatile nitrites is reported. The agents are commonly abused, but this complication is rare. The clinical presentation can make diagnosis difficult; however, the subsequent treatment needs to be rapid to avoid serious morbidity or mortality. This report presents the clinical picture and the background information leading to the detection and treatment of this unusual problem. PMID:9315944

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

An unusual case of fatal pulmonary hemorrhage in pregnancy

PubMed Central

Dissanayake, N. L. A; Madegedara, Dushantha

2011-01-01

Rickettsial diseases are common in Srilanka. The spotted fever group of rickettsiae presents in many ways, including very severe disease causing significant morbidity and mortality. A regional variation of the Rickettsia conorii subspecies and differences in clinical presentations are reported. This case describes disseminated Rickettsia conorii infection in a pregnant woman presenting with endocarditis. PMID:21886958

An Unusual Case Report of Bertolotti's Syndrome: Extraforaminal Stenosis and L5 Unilateral Root Compression (Castellvi Type III an LSTV).

PubMed

Kapetanakis, Stylianos; Chaniotakis, Constantinos; Paraskevopoulos, Constantinos; Pavlidis, Pavlos

2017-01-01

Castellvi Type III lumbosacral transitional vertebrae (LSTV) is an unusual case of Bertolotti's syndrome (BS) due to extraforaminal stenosis, especially manifesting in elderly patients. We report a case of BS in a 62 years old Greek female. The signs of the clinical examination are low back pain, sciatica, hypoesthesia, and pain to the contribution of L5 nerve. Imaging techniques revealed an LSTV Type III a (complete sacralization between LSTV and sacrum). Despite the fact that LSTV is a congenital lesion, the clinical manifestation of BS may present in the elderly population. The accumulative effect of the gradual degeneration of intervertebral foramen (stenosis) may lead to the compression of extraforaminal portion of the nerve root.

Acute dysphagia in an octogenarian: an unusual case of tetanus.

PubMed

Giordano, Mauro; Ciarambino, Tiziana; Di Bella, Olimpia; Finelli, Angelo; Ferrara, Nicola; Paolisso, Giuseppe

2014-06-01

Tetanus is a major worldwide health problem, and its global incidence has been estimated to be approximately 1 million cases per year. In particular, tetanus is more frequent in the elderly as compared with adults. We report a case of an octogenarian who presented with dysphagia and tremors as the only clinical symptoms. During hospitalization, the patient's clinical conditions worsened rapidly, and, although in absence of the classic clinical presentation (trisma, nuchal rigidity, and opisthotonus), a diagnosis of tetanus was suspected. Thus, the patient underwent a tetanus immunoglobulin immunization and antibiotic therapy with excellent clinical recovery.

General Information about Unusual Cancers of Childhood

MedlinePlus

... Cancers of Childhood Treatment (PDQ®)–Patient Version General Information About Unusual Cancers of Childhood Go to Health ... the PDQ Pediatric Treatment Editorial Board . Clinical Trial Information A clinical trial is a study to answer ...

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/.

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.

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

Unusual presentation of splenic myelolipoma in a dog

PubMed Central

Al-Rukibat, Raida K.; Bani Ismail, Zuhair A.

2006-01-01

A 13-year-old dog was presented with clinical signs of anemia, vomiting, weight loss, and progressive abdominal distension. Abdominal ultrasonography and radiography revealed a large mass, which was removed surgically. Cytologic and histologic evaluation of the mass revealed a mixture of fat and hematopoietic tissue, consistent with a splenic myelolipoma. PMID:17147143

Multiple idiopathic external apical root resorption: report of four cases.

PubMed

Cholia, S S; Wilson, P H R; Makdissi, J

2005-07-01

Multiple idiopathic external root resorption is an unusual condition that may present in a cervical or an apical form. In this article, we review the published literature relating to multiple idiopathic external apical root resorption and present four clinical cases. We consider the aetiology of this condition and discuss the various treatment options.

Small bowel intussusception due to a primary non-Hodgkin's lymphoma. An unusual presentation and clinical course.

PubMed

Salemis, Nikolaos S; Tsiambas, Evangelos; Liatsos, Christos; Karameris, Andreas; Tsohataridis, Efstathios

2010-12-01

Adult intussusception is a rare clinical entity accounting for 5% of all intussusceptions. Symptoms and signs are often vague and non-specific making a preoperative diagnosis difficult. The purpose of this study is to present a rare case of a jejuno-jejunal intussusception due to primary intestinal non-Hodgkin's lymphoma in a patient with an unusual clinical course. A 78-year-old man presented with a 1-month history of abdominal pain, nausea, epigastric fullness, and weight loss. Computed tomography scan and ultrasonography findings were suggestive of small bowel intussusception. Laparotomy revealed a jejuno-jejunal intussusception caused by a primary B cell non-Hodgkin's lymphoma 20 cm distal to the ligament of Treitz. Resection without prior reduction was performed. The patient refused postoperative adjuvant chemotherapy. Seven months later, he presented with upper gastrointestinal bleeding, and the diagnostic evaluation revealed gastric infiltration of large B cell non-Hodgkin's lymphoma. Despite chemotherapy, he died of disseminated progressive disease 7 months later. Adult jejuno-jejunal intussusception due to primary non-Hodgkin's lymphoma is a rare clinical entity. A high index of suspicion is needed as symptoms and signs are not pathognomonic. Appropriate investigations can lead to a prompt preoperative diagnosis. Resection without prior reduction is the treatment of choice. Our patient's refusal of postoperative adjuvant chemotherapy likely resulted in relapse of the disease in another part of the gastrointestinal tract.

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 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."

Streptococcus anginosus endocarditis and multiple liver abscesses in a splenectomised patient.

PubMed

Finn, Talya; Schattner, Ami; Dubin, Ina; Cohen, Regev

2018-04-27

An unusual case of infective endocarditis and concurrent multiple liver abscesses both caused by Streptococcus anginosus in a splenectomised patient is reported. The microorganism is a very rare cause of endocarditis and its presentation with multiple liver abscesses is highly unusual. It was initially misdiagnosed as Streptococcus sanguinis and issues relating to the different clinical presentations of S. anginosus including the rare cases of endocarditis, the role of the patient's splenectomy and problems that may contribute to its potential laboratory misidentifications are discussed. © 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.

Case report: a 70-year-old man with undiagnosed factor VII deficiency presented with acute ischemic stroke.

PubMed

Ip, Hing-Lung; Chan, Anne Yin-Yan; Ng, Kit-Chung; Soo, Yannie Oi-Yan; Wong, Lawrence Ka-Sing

2013-11-01

Factor VII deficiency is an uncommon coagulation disorder that patient usually presents with bleeding diathesis, but thrombotic event has been reported. We report a case of unusual clinical presentation in a patient with undiagnosed factor VII deficiency who presented with acute ischemic stroke. Copyright © 2013 National Stroke Association. Published by Elsevier Inc. All rights reserved.

Hair follicle nevus of the abdominal skin: an unusual extracephalic presentation.

PubMed

Jedrych, Jaroslaw; Akilov, Oleg; Gehris, Robin; Ho, Jonhan

2014-01-01

Hair follicle nevus (HFN) is a rare hamartoma typically diagnosed on the face of infants, where it may clinically mimic an accessory tragus. We report a 6-month-old boy who presented with a congenital fleshy, bilobed papule in the midline of his upper abdomen that upon excision was classified as an HFN based on detailed histopathologic examination. Our report documents a previously undescribed extracephalic location of the HFN and therefore expands the spectrum of clinical presentations of this rare hamartoma. © 2014 Wiley Periodicals, Inc.

An Unusual Case Report of Bertolotti’s Syndrome: Extraforaminal Stenosis and L5 Unilateral Root Compression (Castellvi Type III an LSTV)

PubMed Central

Kapetanakis, Stylianos; Chaniotakis, Constantinos; Paraskevopoulos, Constantinos; Pavlidis, Pavlos

2017-01-01

Introduction: Castellvi Type III lumbosacral transitional vertebrae (LSTV) is an unusual case of Bertolotti’s syndrome (BS) due to extraforaminal stenosis, especially manifesting in elderly patients. Case Report: We report a case of BS in a 62 years old Greek female. The signs of the clinical examination are low back pain, sciatica, hypoesthesia, and pain to the contribution of L5 nerve. Imaging techniques revealed an LSTV Type III a (complete sacralization between LSTV and sacrum). Conclusion: Despite the fact that LSTV is a congenital lesion, the clinical manifestation of BS may present in the elderly population. The accumulative effect of the gradual degeneration of intervertebral foramen (stenosis) may lead to the compression of extraforaminal portion of the nerve root. PMID:29051870

A pediatric intramedullary spinal cord tumor with unusual solid-cystic and papillary features: a case report.

PubMed

Iwasaki, Takeshi; Kato, Masako; Horie, Yasushi; Kato, Shinsuke; Akatsuka, Keiichi; Watanabe, Takashi; Kuwamoto, Satoshi; Murakami, Ichiro; Hayashi, Kazuhiko

2011-12-01

Spinal cord tumors are rare in children. We report a novel case of pediatric intramedullary spinal cord tumor with unusual solid-cystic and papillary features. Clinically, the patient presented at the age of 3 years with motor deficit and urinary incontinence, and MRI demonstrated multilocular cystic lesions in the thoracic spine. Histologically the tumor consisted of solid, sheet-like components and branching papillary structures, and immunohistochemistry demonstrated positive reactivity for epithelial membrane antigen, cytokeratins (7, AE1/3, CAM5.2), E-cadherin and transthyretin, and negativity for GFAP, S-100 protein, synaptophysin and neurofilament. These histological and immunohistochemical findings appeared to be unique, and were not compatible with the features of classical ependymoma or choroid plexus papilloma. The clinical behavior, characterized by relatively rapid tumor regrowth after surgical resection and a relatively high MIB-1 labeling index, suggest that this tumor might have had moderate malignant potential. This pediatric case appears to be particularly informative with regard to the tumor biology or tumorigenesis of intramedullary spinal cord tumor with unusual solid-cystic and papillary features. © 2011 Japanese Society of Neuropathology.

Dangerous space emphysema after dental treatment

PubMed Central

Hagr, Abdulrahman

2010-01-01

We report the case of an elderly female patient who presented with dangerous space emphysema occurring after a dental procedure. This case presented a diagnostic and management dilemma because of the development of an unusual complication of dental disease. In our review of the medical literature, we were unable to find any cases with similar manifestations and clinical courses. PMID:20835314

Characteristics of Auditory Agnosia in a Child with Severe Traumatic Brain Injury: A Case Report

ERIC Educational Resources Information Center

Hattiangadi, Nina; Pillion, Joseph P.; Slomine, Beth; Christensen, James; Trovato, Melissa K.; Speedie, Lynn J.

2005-01-01

We present a case that is unusual in many respects from other documented incidences of auditory agnosia, including the mechanism of injury, age of the individual, and location of neurological insult. The clinical presentation is one of disturbance in the perception of spoken language, music, pitch, emotional prosody, and temporal auditory…

A Rare Case of Adrenal Pheochromocytoma with Unusual Clinical and Biochemical Presentation: 
A Case Report and Literature Review

PubMed Central

Mula-Abed, Waad-Allah S.; Ahmed, Riyaz; Ramadhan, Fatima A.; Al-Kindi, Manal K.; Al-Busaidi, Noor B.; Al-Muslahi, Hilal N.; Al-Lamki, Mohammad A.

2015-01-01

A 50-year-old Omani woman presented to the Outpatient Clinic, Royal Hospital, Oman with right upper abdominal pain and backache that had lasted 10 days. She had no palpitation, sweating, or hypertension (blood pressure 122/78mmHg). The patient’s history revealed that she had a similar incidence of abdominal pain two months prior, which was a "dull ache" in nature and somewhat associated with headache. The pain was relieved using a mild analgesic drug. Abdominal ultrasonography showed a right adrenal mass, and both computed tomography and magnetic resonance imaging of the adrenal glands confirmed a right adrenal mass consistent with adrenal pheochromocytoma. However, clinical biochemistry tests revealed normal levels of plasma catecholamines (dopamine, norepinephrine, and epinephrine) and metanephrine, which are unusual findings in adrenal pheochromocytoma. Meanwhile, the patient had markedly raised plasma normetanephrine (10-fold) which, together with the normal metanephrine, constitutes a metabolic profile that is compatible with extra-adrenal pheochromocytoma. The patient also had markedly raised chromogranin A (16-fold), consistent with the presence of a neuroendocrine tumor. Laparoscopic right adrenalectomy was done and the adrenal tumor was excised and retrieved in total. Histopathology and immunohistochemistry confirmed the diagnosis of adrenal pheochromocytoma; the tumor cells being positive for chromogranin, synaptophysin, and S-100 protein. Following surgery, the patient did well and showed full recovery at follow-up after three months. Molecular genetic testing showed no pathogenic mutation in pheochromocytoma genes: MAX, SDHA, SDHAF2, SDHB, SDHC, SDHD, VHL, and PRKAR1A. A review of the literature was conducted to identify the pathophysiology and any previous reports of such case. To our knowledge, this is the first report in Oman of the extremely rare entity of pheochromocytoma with an unusual clinical and biochemical scenario. PMID:26421121

A Rare Case of Adrenal Pheochromocytoma with Unusual Clinical and Biochemical Presentation: 
A Case Report and Literature Review.

PubMed

Mula-Abed, Waad-Allah S; Ahmed, Riyaz; Ramadhan, Fatima A; Al-Kindi, Manal K; Al-Busaidi, Noor B; Al-Muslahi, Hilal N; Al-Lamki, Mohammad A

2015-09-01

A 50-year-old Omani woman presented to the Outpatient Clinic, Royal Hospital, Oman with right upper abdominal pain and backache that had lasted 10 days. She had no palpitation, sweating, or hypertension (blood pressure 122/78mmHg). The patient's history revealed that she had a similar incidence of abdominal pain two months prior, which was a "dull ache" in nature and somewhat associated with headache. The pain was relieved using a mild analgesic drug. Abdominal ultrasonography showed a right adrenal mass, and both computed tomography and magnetic resonance imaging of the adrenal glands confirmed a right adrenal mass consistent with adrenal pheochromocytoma. However, clinical biochemistry tests revealed normal levels of plasma catecholamines (dopamine, norepinephrine, and epinephrine) and metanephrine, which are unusual findings in adrenal pheochromocytoma. Meanwhile, the patient had markedly raised plasma normetanephrine (10-fold) which, together with the normal metanephrine, constitutes a metabolic profile that is compatible with extra-adrenal pheochromocytoma. The patient also had markedly raised chromogranin A (16-fold), consistent with the presence of a neuroendocrine tumor. Laparoscopic right adrenalectomy was done and the adrenal tumor was excised and retrieved in total. Histopathology and immunohistochemistry confirmed the diagnosis of adrenal pheochromocytoma; the tumor cells being positive for chromogranin, synaptophysin, and S-100 protein. Following surgery, the patient did well and showed full recovery at follow-up after three months. Molecular genetic testing showed no pathogenic mutation in pheochromocytoma genes: MAX, SDHA, SDHAF2, SDHB, SDHC, SDHD, VHL, and PRKAR1A. A review of the literature was conducted to identify the pathophysiology and any previous reports of such case. To our knowledge, this is the first report in Oman of the extremely rare entity of pheochromocytoma with an unusual clinical and biochemical scenario.

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.

[Dehydration and metabolic alkalosis: an unusual presentation of cystic fibrosis in an infant].

PubMed

Aranzamendi, Roberto J; Breitman, Fanny; Asciutto, Carolina; Delgado, Norma; Castaños, Claudio

2008-10-01

Cystic fibrosis (CF) may present during neonatal period with classic clinic symptoms related to the disease. The severity of the disease is multifactorial, one of the factors depends on the level of activity of the CFTR protein, which is related with the mutation type that affects the patient. An infant is presented who developed recurrent episodes of vomiting, anorexia, weight loss, dehydration and electrolyte abnormalities, such as metabolic alkalosis, hyponatremia, hypokalemia and hypochloremia. CF was diagnosed after the third episode showing an unusual and not very publicized presentation of the disease. Mutations !F 508 and 2789+5G-A were found. CF should be considered in patients of any age, but particularly in infants, presenting with anorexia, vomiting, failure to thrive, that are associated with recurrent episodes of hyponatremic hypochloremic, dehydration with metabolic alkalosis unexplained by other causes, even in the absence of respiratory or gastrointestinal symptoms or failure to thrive.

Melanoma in situ and syringoma: a rare collision tumor. Clinical-pathological report of a case*

PubMed Central

Umbert-Millet, Pablo; Quintana-Codina, Monica; Salleras-Redonnet, Montse

2017-01-01

Collision or contiguous tumors, defined as two or more distinct tumors occurring at one site, are often an unexpected finding and may represent a diagnostic challenge, as clinical and histological presentations do not always coincide. Various combinations of collision tumors have been described with respect to melanocytic lesions, with the most frequently reported being the combination of nevus and basal cell carcinoma. We present an unusual case on the nose involving a melanoma in situ and a clinically-inapparent syringoma, which, to the best of our knowledge, is the first report of this combination. PMID:29267461

Verrucous Lichen Planus: A Rare Presentation of a Common Condition

PubMed Central

Audhya, Moutusi; Varughese, Jenny S.; Nakhwa, Yuti C.

2014-01-01

Lichen planus is a chronic papulosquamous dermatoses in which both skin and mucosae are involved. There are various morphological forms of lichen planus. Hypertrophic lichen planus is one of the rare clinical variants. Herein, we report a very unusual presentation of hypertrophic lichen planus. A similar presentation has not been reported in literature yet, to the best of our knowledge. PMID:25386324

Pelvic abscess associated with a Lippes loop. An unusual case.

PubMed

Hochner-Celnikier, D; Milwidsky, A; Menashe, M; Ariel, I; Palti, Z

1983-08-01

An unusual case occurred of Lippes-Loop-associated pelvic abscess, characterized by a relatively mild clinical course and an unusual localization in the pelvis. This case emphasizes the importance of considering the association between intrauterine devices and pelvic abscess.

EML4-ALK-positive lung adenocarcinoma presenting an unusual metastatic pattern in a 29-year-old woman who is alive and well in her third year follow up:A case report.

PubMed

Tokat, Fatma; Zeren, Handan; Barut, Pinar; Tansan, Sualp; Ince, Umit

2017-01-01

Non-small cell lung cancer (NSCLC) is a frequent tumor entity with high mortality. Although several newly discovered chromosomal translocations and mutations opened new horizons for targeted therapy, literature still lacks large series of NSCLC with chromosomal abberations and their correlations with histological and clinical features. We present a case of echinoderm microtubule-associated protein-like 4-anaplastic lymphoma kinase (EML4-ALK) translocation positive adenocarcinoma of the lung with an unusual metastatic pattern in a 29-year-old young woman. Young adult non-smoker female patients with an unexplained pleural effusion and signs of metastatic disease should alert the physicians straight away for all types of malignancies including lung cancer. Any skin lesions should be evaluated carefully, biopsies should be done to exclude metastasis in urgency. On the other hand, an uncommon clinical presentation of a lung cancer requires corresponding molecular testing rapidly in order to offer the best treatment option.

Unusual asymptomatic presentation of bladder cancer metastatic to the penis.

PubMed

Giunchi, Francesca; Vasuri, Francesco; Valerio, Vagnoni; Montagnani, Ilaria; Nelli, Federico; Fiorentino, Michelangelo; Raspollini, Maria Rosaria

2017-06-01

Penile metastasis is an extremely rare event and mainly originate from primary pelvic tumor sites such us urinary bladder, gastro-intestinal tract and prostate and more rarely from respiratory system, bone tumors and melanoma. Here we describe the unusual presentation of two bladder urothelial cancer metastatic to the penis with no relevant clinical symptoms. Namely, a 69 years-old man with a warthy lesions of the foreskin and the glans misunderstood for a condylomata that at histological and immunohistochemical analysis showed a bladder urothelial carcinoma; and a 71 years-old man with reddish skin lesion of the glans, a previous history of bladder and urethral carcinoma and histological pagetoid spread of urothelial cancer to the glans. Recurrent bladder urothelial carcinoma is usually a visceral disease that rarely presents as a superficial asymptomatic skin lesion. The two reported cases were asymptomatic superficial penis metastases with a relatively slow growth and a fairy good prognosis after conservative surgical approach. Accurate clinical examination of the penis is mandatory for males with history of bladder cancer. Copyright © 2016 Elsevier GmbH. All rights reserved.

Unusual clinical and MRI features of a cerebellopontine angle medulloepithelioma. Case report and review of literature.

PubMed

Syal, Rajan; Reddy S, Jaypal; Kumar, Raj; Tyagi, Isha; Abrar, A A Wani; Krishnani, Narender; Mishra, Asht M; Gupta, Rakesh K

2006-01-01

We describe for the first time an unusual location and clinical presentation of medulloepithelioma, a rare embryonal tumor. A 5-year-old child presented with sudden onset of bilateral hearing loss. On imaging, the lesion appeared to be extra axial and was located in the right cerebello-pontine (CP) angle, extending into middle fossa along the trigeminal ganglion and in front of the brain stem into the opposite CP angle. It did not show any enhancement following contrast administration and had restricted diffusion on diffusion-weighted imaging, simulating an epidermoid. However, in vivo localized proton MR spectroscopy revealed a creatine peak dominated by a large choline resonance, peak of glycine with lactate/lipid and invisible N-acetylaspartate suggestive of a neoplastic lesion and not an epidermoid. Only subtotal resection could be performed and the patient had a stormy post-operative course due to extensive dissemination of the disease. Copyright 2006 S. Karger AG, Basel.

Central diabetes insipidus: an unusual complication in a child with juvenile myelomonocytic leukemia and monosomy 7.

PubMed

Surapolchai, Pacharapan; Ha, Shau-Yin; Chan, Godfrey Chi-Fung; Lukito, Johannes B; Wan, Thomas S K; So, Chi-Chiu; Chiang, Alan Kwok-Shing

2013-03-01

Central diabetes insipidus (DI) is well-documented as a presenting feature of myelodysplastic syndrome and acute myeloid leukemia in adults. However, DI is unusual in pediatric patients with myeloid malignancies. We report here this rare complication in a child with neurofibromatosis type 1 who developed juvenile myelomonocytic leukemia and monosomy 7. Our case and previously reported cases of DI arising as a complication in myeloid malignancies demonstrate a close association with deletion of chromosome 7. The clinical characteristics and outcomes of these uncommon cases in children are reviewed and discussed.

Chondromyxoid fibroma of the mastoid facial nerve canal mimicking a facial nerve schwannoma.

PubMed

Thompson, Andrew L; Bharatha, Aditya; Aviv, Richard I; Nedzelski, Julian; Chen, Joseph; Bilbao, Juan M; Wong, John; Saad, Reda; Symons, Sean P

2009-07-01

Chondromyxoid fibroma of the skull base is a rare entity. Involvement of the temporal bone is particularly rare. We present an unusual case of progressive facial nerve paralysis with imaging and clinical findings most suggestive of a facial nerve schwannoma. The lesion was tubular in appearance, expanded the mastoid facial nerve canal, protruded out of the stylomastoid foramen, and enhanced homogeneously. The only unusual imaging feature was minor calcification within the tumor. Surgery revealed an irregular, cystic lesion. Pathology diagnosed a chondromyxoid fibroma involving the mastoid portion of the facial nerve canal, destroying the facial nerve.

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

Microcystic adnexal carcinoma: an unusual cause of swelling and paraesthesia of the lower lip.

PubMed

Hodgson, T A; Haricharan, A K; Barrett, A W; Porter, S R

2003-02-01

Microcystic adnexal carcinoma (MAC) is an uncommon, recently described, cutaneous adnexal malignant neoplasm, associated with significant morbidity as a consequence of its propensity for perineural invasion. The present report details the clinical and histological features of MAC in a young female presenting with lower labial swelling and paraesthesia. Copyright 2002 Published by Elsevier Science Ltd.

Unusual presentation of childhood Systemic Lupus Erythematosus

PubMed Central

Kumar, Sathish; Agarwal, Indira

2007-01-01

Bullous systemic lupus erythematosus is a rare blistering condition with a distinctive combination of clinical, histological and immunopathologic features that together constitute a unique bullous disease phenotype. It is often associated with autoimmunity to type VII collagen. Here we report a child who presented with bullous systemic lupus erythematosus. Rapid resolution of the blisters occurred following treatment with dapsone. PMID:18028550

Unusual presentations of BK virus infections in pediatric renal transplant recipients.

PubMed

Drake, Keri A; Najera, Lydia; Reed, Robyn C; Verghese, Priya S

2013-02-01

BKV has emerged as a significant pathogen in the field of transplantation, predominantly causing BKV nephropathy in renal transplant recipients and hemorrhagic cystitis in HSCT recipients. However, case reports describe more diverse complications, and we too present three unusual cases of BKV infections in pediatric renal transplant recipients. First, we describe a case of biopsy-proven renal damage secondary to BKV prior to the onset of viremia, demonstrating that BKV nephropathy can occur without preceding viremia. We also present two renal transplant recipients with persistent BK viruria, one with BKV-associated hemorrhagic cystitis and the other with microscopic hematuria. Therefore, we conclude that BKV manifestations may be more diverse than previously thought and suggest clinical utility in urine BKV qPCR testing in specific transplant recipients. © 2012 John Wiley & Sons A/S.

Papilloedema due to Chiari I malformation

PubMed Central

Zhang, Jason Chao; Bakir, Belal; Lee, Andrew; Yalamanchili, Sushma S

2011-01-01

The Chiari I malformation is a congenital abnormality characterised by downward displacement of the cerebellar tonsils through the foramen magnum into the cervical spine. It presents clinically most often in young adult women. Known ocular manifestations linked to Chiari I consist primarily of oculomotor paresis with cranial nerve VI palsy and convergence/divergence abnormalities. Papilloedema is a rare manifestation of Chiari I with a clinical presentation often similar to that of idiopathic intracranial hypertension. To highlight this unusual complication, the authors report a 64-year-old female who developed papilloedema as the only presenting neurological symptom resulting from a Chiari I malformation. PMID:22675036

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

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.

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

Hepatic Cell Adenoma: A Report of Four Cases

PubMed Central

Albritton, David R.; Tompkins, Ronald K.; Longmire, William P.

1974-01-01

Four patients with hepatic cell adenoma have been treated at the UCLA Hospital since 1965. The most recent was a 22-year-old woman who underwent subtotal resection of a giant hepatic cell adenoma after an unusual and confusing clinical presentation. The tumor may be the largest reported to date and may have excreted metabolically-active substances. Increased familiarity with the varying clinical and radiographic presentations of these rare tumors may facilitate earlier diagnosis and management. ImagesFig. 1.Fig. 2.Fig. 3.Fig. 6.Fig. 7. PMID:4366047

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.

Bilateral nanophthalmos, pigmentary retinal dystrophy, and angle closure glaucoma--a new syndrome?

PubMed Central

Ghose, S; Sachdev, M S; Kumar, H

1985-01-01

An unusual case of bilateral nanophthalmos with pigmentary retinal dystrophy and angle closure glaucoma is presented. This is probably the first published report of the established association of all these three entities in the same patient. The aetiological possibilities and clinical significance are discussed. Images PMID:4016062

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

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.

Surgical repair of an unusual type of supra-cardiac total anomalous pulmonary venous connection to the superior vena cava.

PubMed

Perri, Gianluigi; Filippelli, Sergio; Kirk, Richard; Hasan, Asif; Griselli, Massimo

2012-05-01

Anomalies of the pulmonary venous drainage vary widely in their anatomic spectrum and clinical presentation. We describe an unusual case of supra-cardiac total anomalous pulmonary venous connection (TAPVC), where the pulmonary veins drained directly in the posterior aspect of proximal right superior vena cava (SVC) through separate ostia. The veins were re-routed with a patch to the left atrium via the secundum atrial septal defect (ASD). The continuity between distal SVC and right atrium was re-established by re-implanting the SVC to the right atrial appendage (Warden Procedure). © 2012 Wiley Periodicals, Inc.

Allelic and Phenotypic Heterogeneity in ABCA4 mutations

PubMed Central

Burke, Tomas R; Tsang, Stephen H

2011-01-01

Since the discovery of the ABCA4 gene as the cause of autosomal recessive Stargardt disease/fundus flavimaculatus much has been written of the phenotypic variability in ABCA4 retinopathy. In this review the authors discuss the findings seen on examination and the disease features detected using various clinical tests. Important differential diagnoses are presented and unusual presentations of ABCA4 disease highlighted. PMID:21510770

Unusual Giant Prostatic Urethral Calculus

PubMed Central

Bello, A.; Maitama, H. Y.; Mbibu, N. H.; Kalayi, G. D.; Ahmed, A.

2010-01-01

Giant vesico-prostatic urethral calculus is uncommon. Urethral stones rarely form primarily in the urethra, and they are usually associated with urethral strictures, posterior urethral valve or diverticula. We report a case of a 32-year-old man with giant vesico-prostatic (collar-stud) urethral stone presenting with sepsis and bladder outlet obstruction. The clinical presentation, management, and outcome of the giant prostatic urethral calculus are reviewed. PMID:22091328

Rapidly progressive effusive constrictive pericarditis caused by methicillin sensitive Staphylococcus aureus (MSSA). samraakhtar@hotmail.com.

PubMed

Akhtar, Naveed; Khalid, Ayesha; Ahmed, Waqas; Rasheed, Khalid

2010-04-01

Effusive-constrictive pericarditis is a clinical syndrome characterized by concurrent pericardial effusion and pericardial constriction, where constrictive hemodynamics are persistent after effusion is drained. It may present at any point along the clinical course, from the occurrence of an effusion to the development of chronic pericardial constriction. We refer an unusual case of effusive constrictive pericarditis developing rapidly within days, following purulent pericarditis secondary to chest trauma.

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

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

Polymorphous low grade adenocarcinoma presenting an uncommon radiographic aspect.

PubMed

de Magalhães, M H C G; de Magalhães, R P; de Araújo, V C; de Sousa, S O M

2006-05-01

The aim of this study was to present clinical, histological and immunohistochemical aspects of a polymorphous low grade adenocarcinoma occurring in the mandible. A radiolucent tumour, located in the right mandible, was removed from a 40-year-old woman. Radiographic and CT exams revealed that the lesion expanded bucco-lingual cortical plates and presented an irregular scalloping of the bone. The surrounding lining mucosa was intact. The patient underwent total surgical removal of the lesion with an intraoperative biopsy. Histological diagnosis was polymorphous low-grade adenocarcinoma confirmed by immunohistochemical study. One-year follow up was uneventful. The accurate diagnosis of lesions presenting unusual clinical aspects, as the one presented here, is critical for correctly handling treatment.

Hitch-hiker taken for a ride: an unusual cause of myocarditis, septic shock and adult respiratory distress syndrome

PubMed Central

Kushawaha, Anurag; Brown, Mark; Martin, Ismael; Evenhuis, Walther

2013-01-01

Rocky Mountain spotted fever (RMSF) is a serious tick-borne illness caused by Rickettsia rickettsii that is endemic in southeastern USA. Although RMSF has been described as causing the classic clinical triad of fever, headache and a characteristic rash, serious and potentially life-threatening manifestations can occur. Cardiopulmonary involvement, although infrequent, may occur with severe cases of RMSF. Rickettsial myocarditis is an uncommon occurrence. We present a case of a previously healthy 26-year-old man, who was hitch-hiking across the southeastern USA, with serologically proven RMSF causing adult respiratory distress syndrome, septic shock and myocarditis manifested by elevated cardiac enzymes and decrease in myocardial function. After treatment with antibiotics, the myocarditis resolved. Therefore, although unusual, clinicians should be aware of possible myocardial involvement in patients with appropriate tick-exposure histories or other clinical signs of RMSF. PMID:23314875

Meningitis and Riga-Fede disease: an unusual condition.

PubMed

Picciotti, M; DiVece, L; Viviano, M; Giorgio, A; Lorenzini, G

2014-07-01

Riga-Fede disease (RFD) is a benign inflammatory disorder characterised by the appearance of a traumatic ulceration of the oral mucosa. Early detection of RFD and its adequate management are very important. The authors present a an unusual case of RFD with concomitant Staphylococcus aureus meningitis. A 36-day-old female infant was referred to the emergency room of the Hospital of the University of Siena for a 4-day history of high fever. Clinical evaluation revealed the presence of lingual ulceration caused by natal tooth. Few hours later, clinical manifestations were overshadowed by neurological symptoms. The cerebrospinal fluid examination showed the presence of Staphylococcus aureus. The wound healing after extraction of the tooth and the antibiotic therapy have been important for the resolution of this case. A conservative approach is preferable for natal teeth, but in this case the extraction was suggested since a more radical treatment was more likely to avoid major complications.

Presumed Perinatal Stroke in a Child with Down Syndrome and Moyamoya Disease

ERIC Educational Resources Information Center

Pysden, Karen; Fallon, Penny; Moorthy, Bhagavatheswaran; Ganesan, Vijeya

2010-01-01

Moyamoya disease describes a cerebral arteriopathy characterized by stenosis or occlusion of the terminal internal carotid and/or the proximal middle cerebral arteries. We report a female child with trisomy 21 and bilateral moyamoya disease who presented, unusually, with a presumed perinatal cerebral infarct. The clinical, radiological, and…

Pachyonychia Congenita (K16) with Unusual Features and Good Response to Acitretin

PubMed Central

Almutawa, Fahad; Thusaringam, Thusanth; Watters, Kevin; Gayden, Tenzin; Jabado, Nada; Sasseville, Denis

2015-01-01

Background Pachyonychia congenita (PC) is a rare autosomal dominant disease whose main clinical features include hypertrophic onychodystrophy and palmoplantar keratoderma. The new classification is based on genetic variants with mutations in keratin KRT6A, KRT6B, KRT6C, KRT16, KRT17, and an unknown mutation. Here, we present a case of PC with unusual clinical and histological features and a favorable response to oral acitretin. Case A 49-year-old male presented with diffuse and striate palmoplantar keratoderma, thickened nails, knuckle pads, and pseudoainhum. Histology showed compact hyperkeratosis, prominent irregular acanthosis, and extensive epidermolytic hyperkeratosis, suggestive of Vörner's palmoplantar keratoderma. However, keratin 9 and 1 were not mutated, and full exome sequencing showed heterozygous missense mutation in type I keratin K16. Conclusion To our knowledge, epidermolytic hyperkeratosis has not been previously described with PC. Our patient had an excellent response, maintained over the last 5 years, to a low dose of acitretin. We wish to emphasize the crucial role of whole exome sequencing in establishing the correct diagnosis. PMID:26464567

Locally aggressive and multifocal phosphaturic mesenchymal tumors: two unusual cases of tumor-induced osteomalacia.

PubMed

Higley, Meghan; Beckett, Brooke; Schmahmann, Sandra; Dacey, Elizabeth; Foss, Erik

2015-12-01

Tumor-induced osteomalacia (TIO) has long been recognized as a clinical paraneoplastic syndrome. The identification of a unique histopathologic entity, the phosphaturic mesenchymal tumor (PMT), as a distinct etiology for TIO has been a more recent discovery. The majority of published cases describe a solitary, non-aggressive appearing soft tissue or osseous lesions in patients with osteomalacia; aggressive appearing or multifocal lesions appear to be exceedingly rare. These tumors characteristically secrete fibroblast growth factor 23 (FGF23). Elevated serum levels of FGF23 result in phosphate wasting and osteomalacia. In the majority of cases, laboratory abnormalities and clinical signs and symptoms of osteomalacia precede identification of the causative lesion by years. Following diagnosis, complete resection with wide margins to prevent local recurrence is most often curative. Imaging characteristics of PMT are diverse and remain incompletely defined, as the majority of previous publications are outside of the radiologic literature. We present multiple imaging modalities in two cases of patients with debilitating osteomalacia and unusual appearing PMTs: one with a locally aggressive lesion leading to pathologic fracture, the second presenting with exceedingly rare multifocal PMT.

Juvenile primary extranasopharyngeal angiofibroma, presenting as cheek swelling

PubMed Central

Nandhini, J; Ramasamy, S; Kaul, Ronak Nazir; Austin, Ravi David

2018-01-01

Angiofibroma is a locally advancing immensely vascular tumor that essentially arises from the nasopharynx. The clinical characteristics of extranasopharyngeal angiofibroma (ENA) do not accord to that of nasopharyngeal angiofibroma and can present a diagnostic confront. We describe a case of primary juvenile ENA in a 19-year-old patient who presented with a rapidly enlarging mass of the cheek region. The case is unusual because of its anatomic location. The diagnostic and management particulars are sketched. PMID:29491611

Disseminated paracoccidioidomycosis diagnosis based on oral lesions.

PubMed

Webber, Liana Preto; Martins, Manoela Domingues; de Oliveira, Márcia Gaiger; Munhoz, Etiene Andrade; Carrard, Vinicius Coelho

2014-04-01

Paracoccidioidomycosis (PCM) is a deep mycosis with primary lung manifestations that may present cutaneous and oral lesions. Oral lesions mimic other infectious diseases or even squamous cell carcinoma, clinically and microscopically. Sometimes, the dentist is the first to detect the disease, because lung lesions are asymptomatic, or even misdiagnosed. An unusual case of PCM with 5 months of evolution presenting pulmonary, oral, and cutaneous lesions that was diagnosed by the dentist based on oral lesions is presented and discussed.

Multiple Primary Merkel Cell Carcinomas Presenting as Pruritic, Painful Lower Leg Tumors

PubMed Central

Blumenthal, Laura; VandenBoom, Timothy; Melian, Edward; Peterson, Anthony; Hutchens, Kelli A.

2015-01-01

Merkel cell carcinoma (MCC) is a rare and highly aggressive neuroendocrine tumor of the skin which almost exclusively presents as a solitary tumor. It is most often seen on sun-exposed regions, historically almost exclusively on the head and neck, with only rare case reports on the extremities. Although recent studies have shown increased incidence with up to 20% on the extremities, here we present one of these rare emerging presentations, with the addition of a unique treatment option. Our patient is an 80-year-old male with a 3-month history of multiple raised, rapidly enlarging tumors on the right ankle. Two separate biopsies were performed and demonstrated sheets and clusters of small blue cells filling the dermis with scant cytoplasm, dusty chromatin, and nuclear molding. Subsequent immunohistochemical stains confirmed the diagnosis of multiple primary MCC. Despite the characteristic immunohistochemical profile of primary MCC, the possibility of a metastatic neuroendocrine carcinoma from an alternate primary site was entertained, given his unusual clinical presentation. A complete clinical workup including CT scans of the chest, abdomen, and pelvis showed no evidence of disease elsewhere. Instead of amputation, the patient opted for nonsurgical treatment with radiation therapy alone, resulting in a rapid and complete response. This case represents an unusual presentation of primary MCC and demonstrates further evidence that radiation as monotherapy is an effective local treatment option for inoperable MCC. PMID:26594171

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.

Successful Treatment of an Unusual Case of FPLD2: The Role of Roux-en-Y Gastric Bypass-Case Report and Literature Review.

PubMed

Grundfest-Broniatowski, Sharon; Yan, JingLiang; Kroh, Matthew; Kilim, Holly; Stephenson, Andrew

2017-04-01

Familial partial lipodystrophy type 2 (FPLD2) is a rare disorder associated with LMNA gene mutations. It is usually marked by loss of subcutaneous fat on the limbs and trunk and severe insulin resistance. Scattered reports have indicated that Roux-en-Y bypass helps to control the diabetes mellitus in these patients. We present here a very unusual patient with FPLD2 who had life-threatening retroperitoneal and renal fat accumulation accompanied by bilateral renal cancers. Following cryotherapy of one renal cancer and a contralateral nephrectomy with debulking of the retroperitoneal fat, Roux-en-Y gastric bypass (RYGB) has successfully controlled the disease for 3 years. The clinical presentations and causes of FPLD are reviewed and the role of RYGB is discussed.

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.

Diabetes Insipidus: An Unusual Presentation of Adenocarcinoma of the Lung in a Patient with no Identifiable Lung Mass.

PubMed

Gulati, Shuchi; Kiefer, Christoper; Karim, Nagla Abdel

2015-10-01

Lung cancers are known to metastasize to unusual sites. Despite this knowledge often times the diagnosis of a primary lung cancer gets delayed especially when the patient presents without respiratory symptoms. The patient discussed in our review is a 47-year-old female, smoker who had presented to several hospitals with months of headache, nausea and intermittent episodes of vomiting. She was noted to have hypernatremia due to diabetes insipidus and a pituitary lesion on her magnetic resonance images. The pituitary mass on biopsy was found to represent a metastatic focus from a primary lung adenocarcinoma. Clinicians should be aware of malignancies that are well known to metastasize to the posterior pituitary. Conversely, since not every patient presents with symptoms of metastasis, there is a need to recognize the clinical syndromes (e. g., diabetes insipidus-like symptoms or more subtle symptoms like cranial nerve palsies) associated with potential metastasis to the pituitary.

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

Occipital Intraosseous Hemangioma over Torcula: Unusual Presentation with Raised Intracranial Pressure.

PubMed

Rao, K V L N; Beniwal, Manish; Vazhayil, Vikas; Somanna, Sampath; Yasha, T C

2017-12-01

Hemangiomas of the bone are benign, uncommon, slow-growing lesions accounting for <1.0% of all bony neoplasms. Intraosseous occipital hemangiomas are rare, and occipital hemangiomas presenting with features of raised intracranial tension are, with only 2 cases reported to date. In this case report, we describe the unique case of a 30-year-old male patient presenting with raised intracranial pressure due to venous obstruction at the torcula. The patient underwent excision of the lesion and became symptom free. Although these are benign lesions, they can have a varied clinical presentation. An understanding of the different clinical presentations and surgical nuances in excising such tumors can lead to early diagnosis and good patient outcome. Copyright © 2017 Elsevier Inc. All rights reserved.

[Secondary bladder lymphoma in a patient with AIDS].

PubMed

Vendrell, J R; Alcaraz, A; Gutíerrez, R; Rodríguez, A; Barranco, M A; Carretero, P

1996-10-01

Contribution of one case of non-Hodgkin lymphoma (NHL) with vesical involvement, that presented clinically with urological symptomatology. Vesical involvement is typical of NHL, and is becoming more frequent in association with the increased number of AIDS patients under immunosuppressive therapy. It should be expected that this currently unusual entity will become more common in the future.

A woman with a dangling digit.

PubMed

Roesch, Alexander; Kinner, Bernd; Schaechinger, Ulrich; Obermann, Ellen C; Landthaler, Michael; Hohenleutner, Ulrich

2007-11-01

Ainhum (dactylolysis spontanea) is a distinct clinical and radiological disorder of dark-skinned people characterized by a progressive development of a constricting band encircling the toe which usually results in spontaneous amputation. Ainhum mainly occurs in African natives, but in times of global migration and tourism, Ainhum is likely to be more often encountered outside Africa. Even though the clinical presentation can mimic more common entities such as arthritis and trauma, the correct diagnosis and treatment is easy if one knows this unusual entity.

Stress cardiomyopathy syndrome: a contemporary review.

PubMed

Kapoor, Divya; Bybee, Kevin A

2009-12-01

Stress cardiomyopathy (SC) syndrome represents a reversible form of cardiomyopathy that commonly presents proximate to an acute emotional or physiologic stressor. The clinical presentation is similar to an acute coronary syndrome in the absence of obstructive coronary artery disease to explain the unusual distribution of associated transient wall motion abnormalities. Postmenopausal women seem particularly prone to SC for unclear reasons. The pathophysiology of the syndrome is unknown but may involve pathologic sympathetic myocardial stimulation.

A case of closed loop small bowel obstruction within a strangulated incisional hernia in association with an acute gastric volvulus.

PubMed

Kosai, Nik Ritza; Gendeh, H S; Noorharisman, M; Sutton, Paul Anthony; Das, Srijit

2014-01-01

Small bowel obstruction is a common clinical problem presenting with abdominal distention, colicky pain, absolute constipation and bilious vomiting. There are numerous causes, most commonly attributed to an incarcerated hernia, adhesions or obstructing mass secondary to malignancy. Here we present an unusual cause of a small bowel obstruction secondary to an incarcerated incisional hernia in association with an acute organoaxial gastric volvulus.

Granulosis Rubra Nasi Response to Topical Tacrolimus.

PubMed

Taj, Farhana Tahseen; Vupperla, Divya; Desai, Prarthana B

2017-01-01

Granulosis Rubra Nasi (GRN) is a rare disorder of the eccrine glands. It is clinically characterized by hyperhidrosis of the central part of the face, most commonly on the tip of the nose, followed by appearance of diffuse erythema over the nose, cheeks, chin, and upper lip. It is commonly seen in childhood but it can present in adults. Here we report a case of GRN in an adult patient with very unusual histopathological presentation.

Isolation of the right subclavian artery in a patient with d-transposition of the great arteries.

PubMed

Arunamata, Alisa; Perry, Stanton B; Kipps, Alaina K; Vasanawala, Shreyas S; Axelrod, David M

2015-01-01

Isolation of the right subclavian artery (RSCA) is rare, and this finding in association with d-transposition of the great arteries (d-TGA) is extremely unusual. We present a case of an isolated RSCA in a newborn with d-TGA in whom the clinical presentation was diagnostic. We discuss the imaging modalities used to confirm the diagnosis, the embryological basis of the finding, and the surgical repair.

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.

Intracardiac abscess with cutaneous fistula secondary to ventricular septal defect repair simulating sternal wound infection.

PubMed

Rafael, Aldo Elmer; Keshavamurthy, Suresh; Sepulveda, Edgardo; Miranda, Cyndee Cruz; Okamoto, Toshihiro; Pettersson, Gosta Bengt

2014-06-01

Cutaneous fistula as a clinical presentation of intracardiac abscess of the right side is such an unusual occurrence that it has not until now been reported in the English-language medical literature. We present a rare case of right-sided infective endocarditis caused by Achromobacter xylosoxidans in which recurrent infection presented as sternal wound discharge. The infection was found to have an intracardiac origin and was successfully managed by radical débridement on cardiopulmonary bypass.

Intracardiac Abscess with Cutaneous Fistula Secondary to Ventricular Septal Defect Repair Simulating Sternal Wound Infection

PubMed Central

Keshavamurthy, Suresh; Sepulveda, Edgardo; Miranda, Cyndee Cruz; Okamoto, Toshihiro; Pettersson, Gosta Bengt

2014-01-01

Cutaneous fistula as a clinical presentation of intracardiac abscess of the right side is such an unusual occurrence that it has not until now been reported in the English-language medical literature. We present a rare case of right-sided infective endocarditis caused by Achromobacter xylosoxidans in which recurrent infection presented as sternal wound discharge. The infection was found to have an intracardiac origin and was successfully managed by radical débridement on cardiopulmonary bypass. PMID:24955054

Disseminated paracoccidioidomycosis diagnosis based on oral lesions

PubMed Central

Webber, Liana Preto; Martins, Manoela Domingues; de Oliveira, Márcia Gaiger; Munhoz, Etiene Andrade; Carrard, Vinicius Coelho

2014-01-01

Paracoccidioidomycosis (PCM) is a deep mycosis with primary lung manifestations that may present cutaneous and oral lesions. Oral lesions mimic other infectious diseases or even squamous cell carcinoma, clinically and microscopically. Sometimes, the dentist is the first to detect the disease, because lung lesions are asymptomatic, or even misdiagnosed. An unusual case of PCM with 5 months of evolution presenting pulmonary, oral, and cutaneous lesions that was diagnosed by the dentist based on oral lesions is presented and discussed. PMID:24963249

Bilateral cauliflower ear deformity: an unusual presentation of cutaneous Rosai-Dorfman disease.

PubMed

Oo, Kenneth K K; Pang, Yoke T; Thamboo, Thomas P

2004-03-01

This case illustrates the variety of clinical presentations of Rosai-Dorfman disease. In this case, the disease presented as bilateral cauliflower ear deformity and was diagnosed on the basis of typical pathological findings. Although the cause of this disease is not fully understood, it is hoped that, with increased awareness and the identification of more cases, more questions may be answered with respect to this interesting condition that was so elegantly described by Rosai and Dorfman more than three decades ago.

Florid cemento osseous dysplasia in association with dentigerous cyst.

PubMed

Sanjai, Karpagaselvi; Kumarswamy, Jayalakshmi; Kumar, Vinod K; Patil, Archana

2010-07-01

We present a case of florid cemento-osseous dysplasia occurring in a 20-year-old Indian woman. The subject presented with three lesions involving the maxillary right quadrant, maxillary left quadrant and mandibular left quadrant. The mandibular left quadrant also demonstrated a cyst.The diagnosis was made by correlating the clinical presentation with that of the radiological and histopathological findings. This is a rare entity because of an unusual combination of Asian race along with the association of dentigerous cyst.

Endodontic management of an unusual maxillary first molar with a single buccal root.

PubMed

Nayak, Gurudutt; Dahiya, Surya; Singh, Inderpreet; Mohammad, Faiz Hasan

2014-05-01

The aim of this clinical article is to describe the unusual anatomy that was detected in a maxillary first molar during routine endodontic treatment. Variation in Root and Root canal morphology especially in multirooted teeth presents a constant challenge for a clinician in their detection and management. The literature is replete with cases that have extra canal or Root but cases with fused Root and fewer numbers of canals are sparse. This case report describes the endodontic management of one such unusual case of maxillary first molar presenting with a single fused buccal and a palatal Root. The confirmatory diagnosis of this morphologic aberration was done with the help of spiral computerized tomography, which revealed that the contralateral tooth also had a similar morphology. Dental practitioners should always be aware of the fact that abnormalities need not be in form of extra Roots or Root canals; anomalies can also be in form of fewer number of Roots or Root canals. A thorough knowledge of the complexities and variations of the Root canal system would help in avoiding some of the common iatrogenic access opening errors like perforations and excessive tooth removal caused during the search for the missing or extracanal.

Third wave of African swine fever infection in Armenia: Virus demonstrates the reduction of pathogenicity

PubMed Central

Sargsyan, M. A.; Voskanyan, H. E.; Karalova, E. M.; Hakobyan, L. H.; Karalyan, Z. A.

2018-01-01

Aim: First cases of clinically uncommon African swine fever (ASF), caused by virus genotype II are described in this article. These cases occurred in Armenia, Tavush region, Dilijan municipality in 2011. The aim of this study was to identify and describe the new pathogenic forms of ASF in Armenia. Materials and Methods: The isolation and identification of ASF virus (ASFV) were carried out using conventional techniques. Clinical signs of infection were recorded daily. Gross anatomical pathology characteristics were observed during routine postmortem examinations. Blood and serum were obtained by puncture of the jugular vein using a vacutainer system. Results: The presence of ASFV DNA in the spleens was confirmed by polymerase chain reaction. Sequenced sections of p72 showed phylogenetic identity to genotype 2. The pathology exhibits unusual manifestations of the main disease. The unusual form of ASF demonstrates characteristics of a subacute form of the disease, with the possibility of conversion to a chronic form. Decreased lethality, low level of hemorrhages, and absence of severe pancytopenia in smears from spleen, lymph nodes, and blood are common features of the new form of ASF. Unlike severe thrombocytopenia in the typical ASF, the unusual form exhibited moderate or minor decrease of this feature. Despite a moderate decrease in hemadsorption titers, the unusual pattern of the disease was characterized by viremia and the presence of the virus in the visceral organs, including the brain. Conclusion: Our data allow assuming that new nosological form of ASF (genotype II) may present as a transitional form of the disease with the possibility of chronization. PMID:29479149

Oral lichenoid lesions: distinguishing the benign from the deadly.

PubMed

Müller, Susan

2017-01-01

Oral lichen planus is a chronic inflammatory disease of unknown etiology or pathogenesis with varied disease severity that waxes and wanes over a long period of time. Although a common oral mucosal disease, accurate diagnosis is often challenging due to the overlapping clinical and histopathological features of oral lichen planus and other mucosal diseases. Other immune-mediated mucocutaneous diseases can exhibit lichenoid features including mucous membrane pemphigoid, chronic graft-versus-host disease, and discoid lupus erythematosus. Reactive changes to dental materials or to systemic medications can mimic oral lichen planus both clinically and histologically. In these situations the clinical presentation can be useful, as oral lichen planus presents as a multifocal process and is usually symmetrical and bilateral. Dysplasia of the oral cavity can exhibit a lichenoid histology, which may mask the potentially premalignant features. Proliferative verrucous leukoplakia, an unusual clinical disease, can often mimic oral lichen planus clinically, requiring careful correlation of the clinical and pathologic features.

Chronic myelocytic leukaemia with unusual (27 years) complete remission terminating in acute undifferentiated leukaemia: a clinical and karyotypic study.

PubMed

Najean, Y; Miclea, M; Tanzer, J; Lessard, M; Sigaux, F

1991-07-01

A case of clinically typical CML (300 x 10(6)/l leukocytes, 400 x 10(6)/l platelets, splenomegaly) is presented. After complete remission induced by busulphan, no clinical or haematological abnormalities were observed for 27 years until the development of acute leukaemia (type M1), which was rapidly fatal after a brief chemotherapy-induced remission. The cytogenetic findings were also original: no chromosome Ph1 (during remission 3 years after the onset of the disease), no translocation (banding study 5 years later), and no bcr/abl rearrangement (during the terminal phase).

Labial ankyloglossia: A rare case report

PubMed Central

Bahadure, Rakesh Namdeo; Jain, Eesha; Singh, Parul; Pandey, Rameshkumar; Chuk, Rakeshkumar

2016-01-01

Tongue-tie or ankyloglossia is the congenital short thick lingual frenulum resulting in reduced mobility of the tongue. It limits the possibilities of the extension such as the protrusion and elevation of the tip of the tongue due to either the short of frenulum or genioglossus muscle or both. It can be observed at different ages with specific indications for treatment for each group and cause problems in the feeding, dental hygiene, speech, appearance, and self-esteem of affected patients. Although various degrees of the tongue-tie are mostly observed from the tip of tongue to the base of tongue, sometimes it may present unusually. The present article reports an unusual unique pattern of ankyloglossia where lingual frenum was exceptionally extended and merged with mandibular labium frenum. Reported case is one of the rarest types of ankyloglossia and emphasizes on its clinical implications, need for modifying diagnostic criteria, surgical management, and postoperative exercises. PMID:27994428

Spontaneous C. septicum gas gangrene: A literature review.

PubMed

Srivastava, Ira; Aldape, Michael J; Bryant, Amy E; Stevens, Dennis L

2017-12-01

As the infectious disease paradigm undergoes a subtle shift, unusual infections associated with malignancy and immunosuppression are being increasingly reported. Spontaneous or non-traumatic Clostridium septicum infection is one such unusual infection which has gained prominence. This article aims to understand the pathophysiology, clinical manifestations and current trends in diagnosing and treating this rare but deadly infection. To understand the multifactorial causation of this infection a review of published cases of spontaneous C. septicum gas gangrene was performed and a total of 94 such cases were identified. Several factors were analyzed for each case: age, infection location and underlying illness, presenting signs and symptoms, neutropenia, gross pathology of the colon, antibiotic use, surgical intervention, and survival. A known or occult malignancy was present in 71% patients and an overall mortality of 67% was observed. Copyright © 2017 Elsevier Ltd. All rights reserved.

Maxillary and Mandibular First Premolars Showing Three-Cusp Pattern: An Unusual Presentation

PubMed Central

Kotrashetti, Vijayalakshmi; Nayak, Aarati; Patil, Viraj; Kulkarni, Mayuri; Somannavar, Pradeep

2013-01-01

Dental anatomy is the study of morphology of various teeth in human dentitions. The application of dental anatomy in clinical practice is important, and dentist should have a thorough knowledge regarding the morphology of the teeth. At times as a result of genetic variation, environmental factors, diet of an individual and race, variations in the morphology of the teeth can be observed. These variations have been extensively studied by the researcher in the field of anthropology to define a particular race. The most commonly observed changes include peg-shaped laterals, shovel-shaped incisors, and extra cusp on molar. Common variations documented with regard to maxillary and mandibular first premolars are the variation in the number of roots. But the variations with respect to crown morphology are few. We report a first documented unusual presentation of maxillary and mandibular first premolars with three-cusps pattern in a female patient. PMID:23476817

Massive Broad Ligament Cellular Leiomyoma with Cystic Change: A Diagnostic Dilemma.

PubMed

Sharma, Preeti; Zaheer, Sufian; Yadav, Amit Kumar; Mandal, Ashish Kumar

2016-04-01

Leiomyomas are known to arise from uterus, but rarely from broad ligament. Further, cellular leiomyoma of broad ligament is the least common variant reported in literature. The diagnostic dilemma arises when leiomyomas undergo degenerative changes. This poses both clinical and radiological difficulty in differentiating with an ovarian tumour. We present an unusual case of a huge broad ligament mass measuring 29x19x09cm, mimicking an ovarian tumour both clinically and radiologically. Histopathology revealed cellular leiomyoma of broad ligament with cystic and myxoid degeneration hereby being the second case reported in literature. This case is being presented not only because of the rare incidence but also due to its diagnostic confusion with ovarian malignancy on clinical evaluation and radiological findings.

Leptospirosis in New Orleans.

PubMed

Toliver, Herman L; Krane, N Kevin

2014-02-01

Leptospirosis is an unusual but reemerging zoonotic infectious disease in the United States where the diagnosis may not be suspected when patients initially present. The case report of a patient from New Orleans who presented with jaundice, hypotension and acute kidney injury is presented. In this patient, a broad differential diagnosis was considered on presentation and serologic testing for leptospirosis eventually confirmed the diagnosis. A review of the clinical manifestations, diagnostic studies and treatment are discussed so that leptospirosis will be considered more carefully in the initial evaluation and management of similar patients.

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.

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

[Münchhausen syndrome by proxy].

PubMed

Le Heuzey, M-F; Mouren, M-C

2008-01-01

Münchhausen syndrome by proxy is a factitious disorder, a disease produced or simulated by a parent, the mother in most cases. Clinical presentation is miscellaneous (factitious bleeding, epilepsy, apnea are frequent) and unusual. Physicians participate in the abuse by their therapeutic and diagnostical measures. It is very important to think about this diagnostic in any ambiguous situation in order to evaluate and protect the child.

Munchausen syndrome: Playing sick or sick player

PubMed Central

Prakash, Jyoti; Das, R. C.; Srivastava, K.; Patra, P.; Khan, S. A.; Shashikumar, R.

2014-01-01

Munchausen syndrome is rare factitious disorder which entails frequent hospitalization, pathological lying and intentional production of symptoms for sick role. Management requires collateral history taking, sound clinical approach, exclusion of organicity and addressing psychological issues. A case which presented with unusual symptoms of similar dimension is discussed here. The case brings out finer nuances in evaluation and management of this entity. PMID:25535450

Prostatitis, Steatitis, and Diarrhea in a Dog following Presumptive Flea-Borne Transmission of Bartonella henselae

PubMed Central

Balakrishnan, Nandhakumar; Pritchard, Jessica; Ericson, Marna; Grindem, Carol; Phillips, Kathryn; Jennings, Samuel; Mathews, Kyle; Tran, Huy; Birkenheuer, Adam J.

2014-01-01

Bartonella henselae is increasingly associated with a variety of pathological entities, which are often similar in dogs and human patients. Following an acute flea infestation, a dog developed an unusual clinical presentation for canine bartonellosis. Comprehensive medical, microbiological, and surgical interventions were required for diagnosis and to achieve a full recovery. PMID:24920774

Aggregatibacter actinomycetemcomitans osteomyelitis in a 12 year old boy: case report emphasizing the importance of tissue culture, and review of literature.

PubMed

Sharma, Ketaki; Mudgil, Poonam; Whitehall, John S; Gosbell, Iain

2017-03-14

Aggregatibacter actinomycetemcomitans most commonly causes periodontitis but has been reported to infect heart valves, soft tissue, brain and lungs, and distal bones. Osteomyelitis distal to the jaw is rarely described. We report an unusual and rare case of chronic osteomyelitis caused by A. actinomycetemcomitans in the toe of a paediatric patient, and review the available literature. The infection was managed with intravenous antibiotics followed by oral antibiotics. This is an unusual presentation of A. actinomycetemcomitans causing chronic osteomyelitis presumed due to nidation in a minimally damaged bone, associated with bacteraemia of an oral commensal. It occurred in the toe, without obvious dental predisposition; associated with minimal clinical disturbance and with muted immune response.

Extramedullary (EMP) relapse in unusual locations in multiple myeloma: Is there an association with precedent thalidomide administration and a correlation of special biological features with treatment and outcome?

PubMed

Katodritou, E; Gastari, V; Verrou, E; Hadjiaggelidou, C; Varthaliti, M; Georgiadou, S; Laschos, K; Xirou, P; Yiannaki, E; Constantinou, N; Markala, D; Zervas, K

2009-08-01

Extramedullary relapse constitutes an uncommon manifestation of multiple myeloma (MM), characterized by highly malignant histology, special biological features, resistance to treatment and poor outcome. Its incidence has been increased during the last years, probably due to the introduction of novel strategies in the management of MM, including intensified treatment and immunomodulatory drugs. Here we report nine cases of extramedullary relapse of MM, presented in unusual locations, seven of which had previously been treated with thalidomide-containing regimens (TCR). Our aim was to explore the morphological, immunophenotypical, molecular and laboratory characteristics accompanying EMP-relapse and seek possible correlations with treatment and clinical outcome.

Pseudologia Fantastica in the Emergency Department: A Case Report and Review of the Literature

PubMed Central

Teslyar, Polina; Friedman, Rohn

2017-01-01

Psychiatrists commonly encounter deception in the emergency department. This article presents the case of a patient who presents to the emergency department with an unusual and elaborate web of deceptions along multiple themes including feigning medical illness, multiple losses, and grandiose academic and athletic achievements. We review the clinical characteristics of pseudologia fantastica and discuss how this patient's constellation of malingering, factitious disorder, and personality disorder suggests this diagnosis. PMID:28573061

Metastatic Male Ductal Breast Cancer Mimicking Obstructing Primary Colon Cancer

PubMed Central

Koleilat, Issam; Syal, Anil; Hena, Muhammad

2010-01-01

Male breast cancer comprises only about 1% of all breast cancers. Commonly, sites of metastases include the central nervous system, lungs, bones, and even liver. In females, extrahepatic gastrointestinal metastases are unusual but have been reported with various clinical presentations. We are reporting the first case of a male patient with a history of ductal breast carcinoma that developed colonic metastasis and presented with mechanical large bowel obstruction masquerading as primary colon cancer. PMID:23675178

ST-Segment Elevation Myocardial Infarction with Acute Stent Thrombosis Presenting as Intractable Hiccups: An Unusual Case

PubMed Central

Zhang, Fan; Tongo, Nosakhare Douglas; Hastings, Victoria; Kanzali, Parisa; Zhu, Ziqiang; Chadow, Hal; Rafii, Shahrokh E.

2017-01-01

Patient: Male, 51 Final Diagnosis: ST-segment elevation myocardial infarction with acute stent thrombosis Symptoms: Chest pain • hiccups Medication: — Clinical Procedure: — Specialty: Cardiology Objective: Unusual clinical course Background: Acute coronary syndrome (ACS) can present with atypical chest pain or symptoms not attributed to heart disease, such as indigestion. Hiccups, a benign and self-limited condition, can become persistent or intractable with overlooked underlying etiology. There are various causes of protracted hiccups, including metabolic abnormalities, psychogenic disorders, malignancy, central nervous system pathology, medications, pulmonary disorders, or gastrointestinal etiologies. It is rarely attributed to cardiac disease. Case Report: We report a case of intractable hiccups in a 51-year-old male with cocaine related myocardial infarction (MI) before and after stent placement. Coronary angiogram showed in-stent thrombosis of the initial intervention. Following thrombectomy, balloon angioplasty, and stent, the patient recovered well without additional episodes of hiccups. Although hiccups are not known to present with a predilection for a particular cause of myocardial ischemia, this case may additionally be explained by the sympathomimetic effects of cocaine, which lead to vasoconstriction of coronary arteries. Conclusions: Hiccups associated with cardiac enzyme elevation and EKG ST-segment elevation before and after percutaneous coronary intervention (PCI) maybe a manifestation of acute MI with or without stent. The fact that this patient was a cocaine user may have contributed to the unique presentation. PMID:28455489

Chilblains in Southern California: two case reports and a review of the literature.

PubMed

Gordon, Rebecca; Arikian, Anne M; Pakula, Anita S

2014-11-22

Chilblains or perniosis is an acrally located cutaneous eruption that occurs with exposure to cold. Chilblains can be classified into primary and secondary forms. The primary or idiopathic form is not associated with an underlying disease and is clinically indistinguishable from the secondary form. The secondary form is associated with an underlying condition such as connective tissue disease, monoclonal gammopathy, cryoglobulinemia, or chronic myelomonocytic leukemia. Histopathology cannot accurately help distinguish the primary from secondary forms of chilblains. This article will raise the awareness of chilblains by presenting two unusual case reports of chilblains in men from Southern California with discussion of the appropriate evaluation and treatment of this condition. Case 1: A 56-year-old Caucasian man presented in January to a Southern California primary care clinic with a report of tingling and burning in both feet, followed by bluish discoloration and swelling as well as blistering. He had no unusual cold exposure prior to the onset of his symptoms. He had a history of "white attacks" in his hands consistent with Raynaud's phenomenon. His symptoms gradually resolved over a 3-week period. Case 2: A 53-year-old Caucasian man also presented to a Southern California clinic in January with a 3-week history of painful tingling in his toes, and subsequent purplish-black discoloration of the toes in both feet. His symptoms occurred 1 week after a skiing trip. He had partial improvement with warming measures. His symptoms resolved 2 weeks after his initial presentation. Chilblains is a relatively uncommon entity in warmer climates but can present during the winter months. Primary care providers in warmer climates such as Southern California in the USA may be unfamiliar with its presentation. It can be diagnosed clinically by the appearance of typical lesions during the cold damp season. Through a thorough history, physical examination and selected laboratory evaluation, underlying connective tissue disease or a mimic such as vasculitis or cutaneous leukemia can be excluded.

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.

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.

A Sequential Approach in Treatment of Endo-Perio Lesion A Case Report

PubMed Central

Aspalli, Nagaveni; Munavalli, Anil; Ajgaonkar, Nishant; Babannavar, Roopa

2014-01-01

Endo-perio lesions primarily occur by way of the intimate anatomic and vascular connections between the pulp and the periodontium. Endodontic-periodontal combined lesion is a clinical dilemma because making a differential diagnosis and deciding a prognosis are difficult. An untreated primary endodontic lesion may become secondarily involved with periodontal breakdown, which clinically present unusual signs and symptoms. This may delay the diagnosis and hence the correct treatment. This case report describes diagnosis and treatment protocol for an endo-perio lesion of primary endodontic with secondary periodontal involvement. PMID:25302276

A sequential approach in treatment of endo-perio lesion a case report.

PubMed

Kambale, Sharanappa; Aspalli, Nagaveni; Munavalli, Anil; Ajgaonkar, Nishant; Babannavar, Roopa

2014-08-01

Endo-perio lesions primarily occur by way of the intimate anatomic and vascular connections between the pulp and the periodontium. Endodontic-periodontal combined lesion is a clinical dilemma because making a differential diagnosis and deciding a prognosis are difficult. An untreated primary endodontic lesion may become secondarily involved with periodontal breakdown, which clinically present unusual signs and symptoms. This may delay the diagnosis and hence the correct treatment. This case report describes diagnosis and treatment protocol for an endo-perio lesion of primary endodontic with secondary periodontal involvement.

[Hepatic amyloidosis as cause of severe intrahepatic cholestasis].

PubMed

Gavilán, J C; Bermúdez, F J; Márquez, A; Sánchez-Carrillo, J J; González-Santos, P

2003-01-01

The liver is frequently involved by amyloidosis, but hyperbilirubinemia and liver failure are uncommon features. A mild elevation of the serum alkaline phosphatase value and, less frequently, hepatomegaly are the most common findings. Usually the patients have no symptoms related with the liver involvement; the clinical manifestation and the long term prognosis depends on the renal and cardiac disease. We report an unusual clinical presentation of primary amyloidosis in a previously asymptomatic 65 years old woman who was admitted to the hospital because of ictericia and ascitis mimicking a drug induced acute hepatic failure.

Acute hypopituitarism associated with periorbital swelling and cardiac dysfunction in a patient with pituitary tumor apoplexy: a case report.

PubMed

Ohara, Nobumasa; Yoneoka, Yuichiro; Seki, Yasuhiro; Akiyama, Katsuhiko; Arita, Masataka; Ohashi, Kazumasa; Suzuki, Kazuo; Takada, Toshinori

2017-08-24

Pituitary tumor apoplexy is a rare clinical syndrome caused by acute hemorrhage or infarction in a preexisting pituitary adenoma. It typically manifests as an acute episode of headache, visual disturbance, mental status changes, cranial nerve palsy, and endocrine pituitary dysfunction. However, not all patients present with classical symptoms, so it is pertinent to appreciate the clinical spectrum of pituitary tumor apoplexy presentation. We report an unusual case of a patient with pituitary tumor apoplexy who presented with periorbital edema associated with hypopituitarism. An 83-year-old Japanese man developed acute anterior hypopituitarism; he showed anorexia, fatigue, lethargy, severe bilateral periorbital edema, and mild cardiac dysfunction in the absence of headache, visual disturbance, altered mental status, and cranial nerve palsy. Magnetic resonance imaging showed a 2.5-cm pituitary tumor containing a mixed pattern of solid and liquid components indicating pituitary tumor apoplexy due to hemorrhage in a preexisting pituitary adenoma. Replacement therapy with oral hydrocortisone and levothyroxine relieved his symptoms of central adrenal insufficiency, central hypothyroidism, periorbital edema, and cardiac dysfunction. Common causes of periorbital edema include infections, inflammation, trauma, allergy, kidney or cardiac dysfunction, and endocrine disorders such as primary hypothyroidism. In the present case, the patient's acute central hypothyroidism was probably involved in the development of both periorbital edema and cardiac dysfunction. The present case highlights the need for physicians to consider periorbital edema as an unusual predominant manifestation of pituitary tumor apoplexy.

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.

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.

Hepatocellular Carcinoma: An Unusual Complication of Longstanding Wilson Disease.

PubMed

Gunjan, Deepak; Shalimar; Nadda, Neeti; Kedia, Saurabh; Nayak, Baibaswata; Paul, Shashi B; Gamanagatti, Shivanand Ramachandra; Acharya, Subrat K

2017-06-01

Wilson disease is caused by the accumulation of copper in the liver, brain or other organs, due to the mutation in ATP7B gene, which encodes protein that helps in excretion of copper in the bile canaliculus. Clinical presentation varies from asymptomatic elevation of transaminases to cirrhosis with decompensation. Hepatocellular carcinoma is a known complication of cirrhosis, but a rare occurrence in Wilson disease. We present a case of neurological Wilson disease, who later developed decompensated cirrhosis and hepatocellular carcinoma.

Prototheca wickerhamii algaemia presenting as cholestatic hepatitis in a patient with systemic lupus erythematosus: A case report and literature review

PubMed Central

Min, Zaw; Moser, Stephen A.; Pappas, Peter G.

2012-01-01

Human protothecal infection is uncommon and could be localized or systemic disease. Disseminated Prototheca algaemia tends to occur in immunocompromised patients (solid organ transplants, hematological malignancies) with high mortality. Diagnosis could be missed or delayed due to unusual clinical presentation and/or under-recognition of characteristic microscopic features of Prototheca species. Combined approach that includes removal of source of infection and intravenous amphotericin B provides the best chance of cure. PMID:24432207

Ductal paucity and Warkany syndrome in a patient with congenital extrahepatic portocaval shunt

PubMed Central

Sood, Vikrant; Khanna, Rajeev; Alam, Seema; Rawat, Dinesh; Bhatnagar, Shorav; Rastogi, Archana

2014-01-01

An eleven-year-old clinically dysmorphic and developmentally retarded male child presenting with complaints of 5 episodes of recurrent cholestatic jaundice since 3 years of age was evaluated. Imaging revealed features consistent with congenital extrahepatic portocaval shunt (Abernethy type 1b), multiple regenerative liver nodules and intrahepatic biliary radical dilatation. The presence of ductal paucity and trisomy 8 were confirmed on liver biopsy and karyotyping. The explanation for unusual and previously unreported features in the present case has been proposed. PMID:24868329

Renal Artery Stump to Inferior Vena Cava Fistula: Unusual Clinical Presentation and Transcatheter Embolization with the Amplatzer Vascular Plug

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

Taneja, Manish; Lath, Narayan, E-mail: lath_narayan@yahoo.com; Soo, Tan Bien

Fistulous communication between the renal artery stump and inferior vena cava following nephrectomy is rare. We describe the case of a 52-year-old man with a fistula detected on investigation for hemolytic anemia in the postoperative period. The patient had had a nephrectomy performed 2 weeks prior to presentation for blunt abdominal trauma. The fistula was successfully occluded percutaneously using an Amplatzer vascular plug. The patient recovered completely and was discharged 2 weeks later.

Odorous vaginal discharge - a case study for thorough investigation.

PubMed

Cernat, Geta; Leung, Lawrence

2011-08-01

Odorous vaginal discharge is a common presentation to general practitioners, and a frequent presentation for bacterial infections and sexually transmissible diseases. Busy GPs may be tempted to make a diagnosis from the clinical history and symptoms, and prescribe antibiotics as a first line treatment. This case highlights an unusual cause of persistent odorous vaginal discharge. If a thorough examination had not been conducted, the cause would have been overlooked, first line antibiotics would most likely have been ineffective, and potentially life threatening consequences may have occurred.

Common acute lymphoblastic leukaemia-lymphoma expressing cytokeratin: a case report.

PubMed

Menestrina, F; Lestani, M; Scarpa, A; Viale, G; Bonetti, F; Pizzolo, G; Chilosi, M

1994-01-01

This report presents a case of common acute lymphoblastic leukaemia-lymphoma expressing low molecular weight cytokeratin but no leukocyte common antigen (CD45) in a 57-year-old man. The unusual morphology and clinical course together with the aberrant immunohistochemical results suggested a diagnosis of undifferentiated carcinoma. A detailed immunohistochemistry study on frozen and paraffin sections and molecular analysis prevented a diagnostic mistake.

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.

[Ehler-Danlos syndrome (type V) with urethra bifida and polydactyly: an unusual combination].

PubMed

Manna, R; Modugno, I; Pala, M A; Caputo, S; Caradonna, E; Greco, A V

1981-06-30

Ehlers-Danlos syndrome is currently regarded as a connective tissue dysplasia. Its genetic, biochemical, histological and clinical features are described, together with a personal case in a patient who presented the fundamental symptoms, plus polydactyly and bifid urethra. This association had not been hitherto reported in the literature. The case itself is classed as Ehlers-Danlos syndrome type V.

Trombiculiasis: not only a matter of animals!

PubMed

Guarneri, Claudio; Chokoeva, Anastasiya Atanasova; Wollina, Uwe; Lotti, Torello; Tchernev, Georgi

2017-03-01

Trombiculiasis represents a striking emerging infestation in humans. In fact, modified lifestyles and easy and quick traveling around the globe, together with the altered ecology and habits of the parasite Neotrombicula autumnalis, make this original epizoonosis an extraordinary example of synanthropic dermatosis. We present an additional clinical image of this unusual parasite transmission from animals to humans occurring in a trekker in Calabria, Italy.

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.

Rhabdomyosarcoma presenting as acute leukemia.

PubMed

Morandi, S; Manna, A; Sabattini, E; Porcellini, A

1996-08-01

We describe a case of a very unusual presentation of rhabdomyosarcoma. An 18-year-old woman presented with symptoms and signs compatible with acute leukemia. The bone marrow picture showed diffuse involvement sustained by undifferentiated blasts that turned out to be of striated muscle origin by immunochemistry. While it is well known that rhabdomyosarcoma may metastasize to the bone marrow, extensive marrow involvement with leukemic spread as a unique clinical manifestation is extremely rare. Our observation further confirms the need to consider rhabdomyosarcoma among the possible differential diagnoses in patients who present with a leukemic picture and atypical blasts lacking all hematopoietic markers.

Multiple compound odontomas in mandible: A rarity

PubMed Central

Vaid, Sanjeev; Ram, Rangeela; Bhardwaj, Vinay Kumar; Chandel, Mohinder; Jhingta, Pravesh; Negi, Nishant; Sharma, Deepak

2012-01-01

Odontomas are benign odontogenic tumors composed of enamel, dentine, and cementum and pulp tissue. They are usually clinically asymptomatic, but often associated with tooth eruption disturbances. The present study reports an unusual case of eleven odontomas in the left lateral incisor-canine region of lower jaw. A 26 years old female presented to the department of orthodontics and dentofacial orthopedics in H.P. Govt. Dental College and Hospital Shimla for the treatment of misaligned teeth. Clinical examination revealed that the lower left lateral incisor was missing. Patient was advised for radiographs, which revealed a mixed radiopaque lesion associated to impacted lower left canine. The histological report in this case indicated a compound odontoma. PMID:23293496

Severe optic neuritis in infectious mononucleosis.

PubMed

Jones, J; Gardner, W; Newman, T

1988-04-01

Because the presentation and clinical features of infectious mononucleosis can be misleading in the elderly, a significant number of infections may go unrecognized. We report an unusual case of infectious mononucleosis in a 61-year-old man in whom marked visual impairment was the presenting complaint and severe optic neuritis was the only prominent finding. Confirmation of the diagnosis was made by serologic testing for Epstein-Barr virus antibody. Recovery of visual function was near complete, but optic atrophy persisted. We reviewed the English literature and collected seven cases of well-documented optic neuritis associated with infectious mononucleosis. A clinical profile of parainfectious optic neuritis is discussed along with the likely pathogenesis for this complication.

Nasal cavity ossifying fibrosarcoma: an unusual fibro-osseous neoplasm.

PubMed

Alameda, Yadiel A; Perez-Mitchell, Carlos; Busquets, José M

2010-11-01

We describe the case of a 65-year-old woman who presented with left nasal obstruction. Clinical and radiographic examinations revealed the presence of a soft-tissue mass that had obliterated the left nasal cavity. The mass was completely excised via an endoscopic approach. Histopathologic examination identified the tumor as an ossifying fibrosarcoma. The patient recovered uneventfully and remained free of disease at the 2-year postoperative follow-up. To the best of our knowledge, no case of an ossifying fibrosarcoma of the nasal cavity has been previously reported in the English-language literature. We discuss the features of this case and the clinical presentation, diagnosis, and management of fibrosarcomas of the nasal cavity and paranasal sinuses.

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.

A Rare Monocytic Crisis of Chronic Myelogenous Leukemia Presenting with Unusual Extramedullary Manifestations and an Atypical (14;22)(q24;q11.2) Translocation in the Bone Marrow

PubMed Central

Inoue, Morihiro; Hagihara, Masao; Uchida, Tomoyuki; Hua, Jian; Nakajima, Takeshi; Tajima, Shogo; Ota, Yasunori

2017-01-01

A 48-year-old man was admitted due to marked leukocytosis. Bone marrow examinations resulted in a diagnosis of Philadelphia (Ph) chromosome-positive chronic myeloid leukemia. One month later, massive muscle and bone invasion by leukemic cells was detected. After induction chemotherapy, he complained of a headache and visual loss, which was caused by a leukemic infiltration in the central nervous system. After temporary remission in response to chemotherapy, the disease relapsed in the form of an intracranial tumor. The unusual t(14;22)(q24;q11.2) translocation of the Ph-chromosome and the significant increase in monocytes observed might have contributed to the unique and aggressive clinical course. PMID:29021476

Acquired toxoplasmosis of the buccal area with extranodular involvement: report of an unusual case.

PubMed

Köybaşi, Serap; Süslü, Ahmet Emre; Yigit, Beyhan; Boran, Cetin

2009-12-01

Acquired toxoplasmosis is a common parasitic infection in humans. It can be caused by ingestion of infected meat or other food that has been contaminated by the feces of infected cats. Approximately 90% of immunocompetent patients with acquired toxoplasmosis are asymptomatic and undiagnosed; in the other 10%, toxoplasmosis manifests as a nonspecific, self-limited illness that usually does not require treatment. In symptomatic cases, cervical lymphadenopathy is one of the most common clinical findings. We report the case of a 33-year-old woman who experienced unilateral facial swelling secondary to toxoplasmosis. In addition to the atypical location of her disease (i.e., the buccal area), the atypical histopathologic findings in this case (e.g., extranodular involvement) constituted a very unusual presentation of toxoplasmosis.

Myositis ossificans traumatica causing ankylosis of the elbow.

PubMed

Kanthimathi, B; Udhaya Shankar, S; Arun Kumar, K; Narayanan, V L

2014-12-01

Myositis ossificans traumatica is an unusual complication following a muscle contusion injury. A significantly large myositic mass causing ankylosis of the elbow is even rarer. We report a 13-year-old boy who presented with a 14-month history of a fixed elbow with no movement and a palpable bony mass in the anterior aspect of the elbow. He had sustained significant trauma to the affected limb 1 month prior to onset of symptoms, which was managed by native massage and bandaging for 4 weeks. The clinicoradiological diagnosis was suggestive of myositis ossificans, and the myositic mass was completely excised. Histopathology revealed lamellar bone. The 2-year follow-up showed full function of the affected limb and no signs of recurrence. We report this case of clinical interest due to the unusually large myositic mass.

Dens invaginatus in primary maxillary molar: a rare case report and review of literature.

PubMed

Bansal, Arpana V; Bansal, Abhinav; Kulkarni, Vinaya Kumar; Dhar, Reema Sharma

2012-05-01

Dens invaginatus is a rare developmental anomaly. It is unusual to find this anomaly in primary dentition. Diagnosis of this dens invaginatus is important due to possible pulpal involvement. Not only that, simultaneous presence of other dental anomaly may require long-term treatment planning. Dens invaginatus can be detected clinically in the tooth presenting unusual crown morphology or radiographically as radiopacity within tooth. This article describes one of the first case reports of dens invaginatus in primary maxillary second molar in a 5-year-old female patient. How to cite this article: Bansal AV, Bansal A, Kulkarni VK, Dhar RS. Dens Invaginatus in Primary Maxillary Molar: A Rare Case Report and Review of Literature. Int J Clin Pediatr Dent 2012;5(2):139-141.

Corkscrew angiopathy of intracranial vessels in a young stroke patient: a case report

PubMed Central

2012-01-01

Introduction We present a rare finding of a ‘corkscrew appearance’ of the distal cerebral vessels in a young Asian woman who presented with acute stroke. Case presentation A 32-year-old Asian woman presented with a 3-month history of recurrent right-sided transient ischemic attacks. Her clinical workup and brain imaging results were normal. A digital subtraction angiogram revealed an abnormal corkscrew appearance of all intracranial distal vessels. She was discharged on a single antiplatelet drug. She had no further transient ischemic attacks on clinical follow-up. A digital subtraction angiogram performed 1 year later revealed no changes in the appearance of these vessels. Conclusion To the best of our knowledge no similar previous reports exist in the literature. The present report describes a unique case of an unusual corkscrew appearance of the distal intracranial vessels. However, the underlying etiology in the present case remains unknown. PMID:23092123

Prostatitis, steatitis, and diarrhea in a dog following presumptive flea-borne transmission of Bartonella henselae.

PubMed

Balakrishnan, Nandhakumar; Pritchard, Jessica; Ericson, Marna; Grindem, Carol; Phillips, Kathryn; Jennings, Samuel; Mathews, Kyle; Tran, Huy; Birkenheuer, Adam J; Breitschwerdt, Edward B

2014-09-01

Bartonella henselae is increasingly associated with a variety of pathological entities, which are often similar in dogs and human patients. Following an acute flea infestation, a dog developed an unusual clinical presentation for canine bartonellosis. Comprehensive medical, microbiological, and surgical interventions were required for diagnosis and to achieve a full recovery. Copyright © 2014, American Society for Microbiology. All Rights Reserved.

Distal trisomy 10q syndrome, report of a patient with duplicated q24.31 – qter, autism spectrum disorder and unusual features

PubMed Central

Al-Sarraj, Yasser; Al-Khair, Hakam Abu; Taha, Rowaida Ziad; Khattab, Namat; El Sayed, Zakaria H; Elhusein, Bushra; El-Shanti, Hatem

2014-01-01

Key Clinical Message We report on a patient with distal trisomy 10q syndrome presenting with a few previously undescribed physical features, as well as, autism spectrum disorder (ASD). We recommend that patients with distal trisomy 10q syndrome should have a behavioral evaluation for ASD for the early institution of therapy. PMID:25614812

Avulsion fracture of the posterior cruciate ligament in an uncommon location associated with distal injury to the patellar ligament☆

PubMed Central

e Albuquerque, Rodrigo Pires; da Palma, Idemar Monteiro; Cobra, Hugo; de Paula Mozella, Alan; Vaques, Victor

2015-01-01

Avulsion fractures of the posterior cruciate ligament in unusual locations are rare injuries. We report the first case in the literature of an avulsion fracture of the posterior cruciate ligament associated with distal injury to the patellar ligament. The aim of this study was to present a novel case, the therapy used and the clinical follow-up. PMID:27218089

Opsoclonus myoclonus syndrome: an unusual presentation for West Nile virus encephalitis

PubMed Central

Afzal, Aasim; Ashraf, Sahar

2014-01-01

A record number of West Nile virus (WNV) cases and fatalities seen in 2012 have brought to light the numerous manifestations of neuroinvasive disease. We report a case of opsoclonus myoclonus syndrome attributed to WNV and its clinical course after treatment with a combination of steroids and intravenous immunoglobulin. Our objective is to highlight opsoclonus myoclonus syndrome as a potential manifestation of WNV encephalitis. PMID:24688189

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.

Anophthalmia-plus syndrome with unusual findings. A clinical report and review of the literature.

PubMed

Cayir, A; Tasdemir, S; Eroz, R; Yuce, I; Orbak, Z; Tatar, A

2013-01-01

We present a male child at 3 years old with Anophthalmia-Plus Syndrome (APS). He has asymmetry of the face and head, left choanal atresia, a sunken facial appearance, microphthalmia in the right eye, severe microphthalmia in the left eye, bilateral low-set ears, scarring from cleft palate surgery. Magnetic resonance imaging (MRI) sections revealed decreased right globe volume, an undeveloped left globe, decreased left optical nerve thickness, Chiari type 2 malformation, left choanal atresia and cleft palate. Echocardiography and abdominal ultrasonography were normal. The patient has a 45 dB conductive hearing loss in the left ear. Repeated thyroid function tests were evaluated as compatible with central hypothyroidism. We report a Fryns Anophthalmia-Plus Syndrome in a child with unusual findings including central hypothyroidism, chiari type 2 malformation, conductive hearing loss and developmental regression. Summary of the features reported in the present case and all 14 previous cases that might be defined as APS.

Unusual Presentation of Melioidosis in a Case of Pseudoaneurysm of Descending Thoracic Aorta: Review of Two Case Reports

PubMed Central

Padmaja, Kanne; Lakshmi, Vemu; Sudhaharan, Sukanya; Venkata Surya Malladi, Subbalaxmi; Gopal, Palanki; Venkata Ravinuthala, Kumar

2015-01-01

Introduction: Melioidosis is a rapidly fatal infectious disease caused by Burkholderia pseudomallei, an agent of potential biothreat, endemic in several parts of India. Most melioidosis-induced infected aneurysms are located in the abdominal or thoracic aorta. Case Presentation: We reported two unusual cases of melioidosis resulting in pseudoaneurysm of the descending thoracic aorta. In both cases, blood cultures yielded B. pseudomallei. The first patient was managed with resection of aneurysm and reconstruction with Dacron graft followed by medical treatment and was discharged uneventfully. The second patient died within one week of admission before the infecting etiological agent was identified and aneurysmal repair was planned. Conclusions: A high clinical index of suspicion, especially in areas of endemicity is essential for timely management of intracavitary infected pseudoaneurysms caused by B. pseudomallei and use of rapid microbiological techniques, such as bact/alert 3D system, which enables rapid and early recovery of the etiological agent. PMID:26380820

Morphea "en coup de sabre": An unusual oral presentation.

PubMed

Niklander, Sven; Marín, Constanza; Martínez, René; Esguep, Alfredo

2017-02-01

Morphea, or localized scleroderma, is an inflammatory disease that leads to sclerosis of the skin and underlying tissues due to excessive collagen deposition. Oral involvement is unusual and it may produce white linear fibrotic areas with a scar-like appearance, atrophy of tongue papillae, gingival recession and alveolar bone resorption. We report a case of a 13-year-old girl who consulted for progressive recession on the attached gingiva of her upper left incisors. She also presented a hypopigmented line on the left side skin of her upper lip, which continued through the vermilion and the lip mucosa, including the gingiva of the affected teeth. Clinical examination, blood tests, computerized axial tomography, echo-Doppler ultrasound and histopathological evaluation confirmed the diagnosis of morphea. Treatment with methotrexate and systemic corticosteroids was conducted. After 24 months, no other lesions appeared. No adverse side effects have been reported so far. Key words: Localized scleroderma, oral morphea, linear scleroderma, oral involvement, intraoral lesions.

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.

[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.

Endodontic management of mandibular third molar with three mesial roots using spiral computed tomography scan as a diagnostic aid: a case report.

PubMed

Tomar, Deepak; Dhingra, Anil; Tomer, Anil; Sharma, Shalini; Sharma, Vivek; Miglani, Anjali

2013-05-01

Aberrant root canal anatomy is diagnostically and clinically challenging for clinicians. The most common root canal configuration of human molars is 2 roots and 3 canals, but various combinations may still exist. Third molars are known to have the most unusual anatomy among human teeth. Restorative, prosthetic, and orthodontic considerations often require endodontic treatment of third molars in order for them to be retained as functional components of the dental arch. The present case report demonstrates unusual root canal morphology of the mandibular third molar. Roentgenographic examination, which included spiral CT scan, revealed 3 separate mesial roots in tooth #48 with 3 independent canals and 3 canal orifices, indicating an endodontic rarity. The present case report puts impetus on exploration of additional canals using advanced diagnostic aids, such as spiral computed tomography, which can have a huge impact on the successful outcome of endodontic therapy. Copyright © 2013 Elsevier Inc. All rights reserved.

Unusual AIP mutation and phenocopy in the family of a young patient with acromegalic gigantism.

PubMed

Imran, Syed Ali; Aldahmani, Khaled A; Penney, Lynette; Croul, Sidney E; Clarke, David B; Collier, David M; Iacovazzo, Donato; Korbonits, Márta

2018-01-01

Early-onset acromegaly causing gigantism is often associated with aryl-hydrocarbon-interacting receptor protein ( AIP ) mutation, especially if there is a positive family history. A15y male presented with tiredness and visual problems. He was 201 cm tall with a span of 217 cm. He had typical facial features of acromegaly, elevated IGF-1, secondary hypogonadism and a large macroadenoma. His paternal aunt had a history of acromegaly presenting at the age of 35 years. Following transsphenoidal surgery, his IGF-1 normalized and clinical symptoms improved. He was found to have a novel AIP mutation destroying the stop codon c.991T>C; p.*331R. Unexpectedly, his father and paternal aunt were negative for this mutation while his mother and older sister were unaffected carriers, suggesting that his aunt represents a phenocopy. Typical presentation for a patient with AIP mutation with excess growth and eunuchoid proportions.Unusual, previously not described AIP variant with loss of the stop codon.Phenocopy may occur in families with a disease-causing germline mutation.

Unusual AIP mutation and phenocopy in the family of a young patient with acromegalic gigantism

PubMed Central

Aldahmani, Khaled A; Penney, Lynette; Croul, Sidney E; Clarke, David B; Collier, David M; Iacovazzo, Donato; Korbonits, Márta

2018-01-01

Summary Early-onset acromegaly causing gigantism is often associated with aryl-hydrocarbon-interacting receptor protein (AIP) mutation, especially if there is a positive family history. A15y male presented with tiredness and visual problems. He was 201 cm tall with a span of 217 cm. He had typical facial features of acromegaly, elevated IGF-1, secondary hypogonadism and a large macroadenoma. His paternal aunt had a history of acromegaly presenting at the age of 35 years. Following transsphenoidal surgery, his IGF-1 normalized and clinical symptoms improved. He was found to have a novel AIP mutation destroying the stop codon c.991T>C; p.*331R. Unexpectedly, his father and paternal aunt were negative for this mutation while his mother and older sister were unaffected carriers, suggesting that his aunt represents a phenocopy. Learning points: Typical presentation for a patient with AIP mutation with excess growth and eunuchoid proportions. Unusual, previously not described AIP variant with loss of the stop codon. Phenocopy may occur in families with a disease-causing germline mutation. PMID:29472986

The role of clinical pharmacology in molecular genetics

NASA Technical Reports Server (NTRS)

Robertson, D.

1997-01-01

PROBLEM: Discovering the causes of unusual phenotypes in human subjects is an important aspect of patient-oriented research. MATERIAL: The tools of clinical pharmacology are uniquely useful in addressing these problems. PATIENTS, SUBJECTS, OR CASE HISTORIES: We evaluated a 42-year-old patient with lifelong orthostatic hypotension and ptosis of the eyelids. He underwent a series of biochemical, physiological, and pharmacological tests outlined in this article. RESULTS: These studies indicated that sympathetic innervation was intact but that the sympathetic neurotransmitter was dopamine rather than norepinephrine. These results demonstrated that dopamine-beta-hydroxylase deficiency underlies the clinical abnormalities of this patient. CONCLUSION: In selected individuals with unusual phenotypes, the techniques of clinical chemistry and clinical pharmacology can define the nature of the defect at almost the resolution of the human genome.

An unexpected tetanus case.

PubMed

Ergonul, Onder; Egeli, Demet; Kahyaoglu, Bulent; Bahar, Mois; Etienne, Mill; Bleck, Thomas

2016-06-01

1 million cases of tetanus are estimated to occur worldwide each year, with more than 200 000 deaths. Tetanus is a life-threatening but preventable disease caused by a toxin produced by Clostridium tetani-a Gram-positive bacillus found in high concentrations in soil and animal excrement. Tetanus is almost completely preventable by active immunisation, but very rarely unexpected cases can occur in individuals who have been previously vaccinated. We report a case of generalised tetanus in a 22-year-old woman that arose despite the protective antitoxin antibody in her serum. The patient received all her vaccinations in the USA; her last vaccination was 6 years ago. The case was unusual because the patient had received all standard vaccinations, had no defined port of entry at disease onset, and had symptoms lasting for 6 months. Tetanus can present with unusual clinical forms; therefore, the diagnosis and management of this rare but difficult disease should be updated. In this Grand Round, we review the clinical features, epidemiology, treatment, and prognosis of C tetani infections. Copyright © 2016 Elsevier Ltd. All rights reserved.

Maxillary molars with morphologic variations of the palatal root canals: a report of four cases.

PubMed

Holderrieth, Silke; Gernhardt, Christian Ralf

2009-07-01

The purpose of this article was to show the importance of the knowledge of the anatomy of root canals. Unusual root and root canal morphologies associated with both buccal roots of upper molars have been recorded in several studies in the literature. However, scientific information focusing on variations of the palatal root is rare. In this report, four cases are presented involving the root canal treatment of maxillary first and second molars with unusual morphologic configurations of the palatal root canals. During root canal treatment, type IV and V configurations as defined by Vertucci of the palatal canals of two first and two second maxillary molars were identified. After mechanical instrumentation, the canals were obturated. Radiologic and clinical re-evaluation showed no signs of inflammation. This report describes and discusses the possibility of different root and canal variations of the maxillary molars from a clinical point of view. Anatomic variations can occur in any tooth, and palatal roots of maxillary first and second molars are no exception. Therefore, careful examination of radiographs and internal anatomy of teeth is essential.

Herpes simplex encephalitis (HSE) and the immunocompromised: a clinical and autopsy study of HSE in the settings of cancer and human immunodeficiency virus-type 1 infection.

PubMed

Schiff, D; Rosenblum, M K

1998-03-01

Although herpes simplex encephalitis (HSE) is not regarded as an opportunistic infection, the occurrence of HSE in immunocompromised patients has been documented and the suggestion made that unusual clinical and neuropathologic features characterize the disorder in this population. To further characterize HSE as it affects the immunodeficient, the authors reviewed the clinical and pathological findings in three immunocompromised patients with autopsy-proven HSE. Two patients had cancer (one with lymphoma and another with glioblastoma multiforme), one was known to be human immunodeficiency virus-type 1 (HIV-1)-seropositive and a second was suspected of harboring underlying HIV-1 infection. Two were receiving dexamethasone at onset of HSE. All had fever, mental status changes and new, focal neurological deficits or worsening of established deficits. Cerebrospinal fluid (CSF) pleocytosis was absent or minimal and head computerized tomographic (CT) scans, performed in all cases, were unrevealing. No patient was clinically suspected of having HSE, only one received acyclovir (for concurrent mucocutaneous herpes) and HSE played a major role in all deaths. Autopsy revealed an unusual form of HSE characterized by a noninflammatory, pseudoischemic histological presentation and the unexpected persistence of viral antigens in abundance despite survival beyond the clinical stage during which inflammatory responses usually peak and productive brain infection wanes. The incidence of HSE in the immunocompromised may be underestimated. Preexistent neurological disease, a noninflammatory CSF profile and negative CT scan may confound the diagnosis in this population, a typical clinical presentation notwithstanding. Increased clinical suspicion, the use of magnetic resonance imaging and polymerase chain reaction analysis of CSF for herpes simplex virus nucleic acid sequences may permit more rapid diagnosis and treatment. The absence of inflammatory infiltrates in some fatal cases of HSE suggests that an intact immune response is not requisite to the devastating neurological injury characteristic of this disorder.

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

[A single metastasis in the carpal bones as the first clinical manifestation of a hepatocellular carcinoma].

PubMed

Corrales Pinzón, R; Alonso Sánchez, J M; de la Mano González, S; El Karzazi Tarazona, K

2014-01-01

Hepatocellular carcinoma is the most common primary tumor of the liver. Spreading outside the liver usually takes place in advanced stages of the disease, and bone is the third most common site of metastases. We present a case of hepatocellular carcinoma in which the first clinical manifestation was a single metastasis to the carpal bones. The interest of this case lies in the way this hepatocellular carcinoma manifested as well as in the unusual site of the metastasis. Copyright © 2012 SERAM. Published by Elsevier Espana. All rights reserved.

Glycogen storage disease type 1a in three siblings with the G270V mutation.

PubMed

Parvari, R; Isam, J; Moses, S W

1999-04-01

Glycogen storage disease type 1a (von Gierke disease, GSD1a) is caused by the deficiency of microsomal glucose-6-phosphatase (G6Pase) activity. The cloning of G6Pase cDNA and characterization of the human G6Pase gene enabled the identification of the mutations causing GSD1a. Here we report on the clinical and biochemical features of three GSD1a siblings of a Muslin Arab family with a G270V mutation. Two older patients presented with an unusually mild clinical and biochemical course.

Ectopic pinealoma: an unusual clinical presentation and a histochemical comparison with a seminoma of the testis

PubMed Central

Beeley, J. M.; Daly, J. J.; Timperley, W. R.; Warner, J.

1973-01-01

A patient with ectopic pinealoma first presented with apparent anorexia nervosa and hypernatraemic coma. A history of diabetes insipidus two months previously was not known on admission to hospital. The diabetes insipidus was unmasked by the administration of steroids. Neuroendocrinal and neuropathological aspects of the case are discussed with reference to the march of symptoms due to the growth of the tumour. Histochemical evidence is presented supporting the similarity between ectopic pinealoma and seminoma which suggests that they may more properly be referred to as atypical teratomas. Images PMID:4356733

Idiopathic thoracic transdural intravertebral spinal cord herniation

PubMed Central

Turel, Mazda K; Wewel, Joshua T; Kerolus, Mena G; O'Toole, John E

2017-01-01

Idiopathic spinal cord herniation is a rare and often missed cause of thoracic myelopathy. The clinical presentation and radiological appearance is inconsistent and commonly confused with a dorsal arachnoid cyst and often is a misdiagnosed entity. While ventral spinal cord herniation through a dural defect has been previously described, intravertebral herniation is a distinct entity and extremely rare. We present the case of a 70-year old man with idiopathic thoracic transdural intravertebral spinal cord herniation and discuss the clinico-radiological presentation, pathophysiology and operative management along with a review the literature of this unusual entity. PMID:29021685

Recognition of unusual presentation of natural killer cell leukemia.

PubMed

Gardiner, C M; Reen, D J; O'Meara, A

1995-10-01

Expansion of the natural killer (NK) subset of lymphocytes represents a rare leukemia phenotype with variations in clinical presentation, morphology, surface phenotype, and effector function. This paper reports on a 5-year-old male patient who had an unusual presentation of an NK cell leukemia that was initially diagnosed as neuroblastoma. A bone marrow (BM) aspirate showed clumps of undifferentiated cells with the following phenotype: CD56bright+, CD33dim+, CD45-, CD2-, CD19-, CD16-, and CD57-. Cytochemistry was noncontributory. The patient, having failed to respond to conventional neuroblastoma chemotherapy, was subsequently diagnosed as having NK cell leukemia based on functional in vitro assays. The patient responded to acute lymphoblastic leukemia (ALL) chemotherapy but relapsed 4 weeks into treatment and eventually died 25 weeks after initial presentation. The cell surface phenotype observed is consistent with a rare NK cell subset, the biology of which has not been well defined. Freshly isolated BM cells killed K562 cells in a conventional 51Cr-release assay. Both interleukin-2 (IL-2) and interferon-alpha (IFN-alpha) induced LAK activity against the Daudi cell line. IL-2 induced proliferation of the leukemic cells. TNF-alpha, IFN-gamma, IL-6, IL-1ra, and TGF-beta levels were assessed and found to be concentrated in BM, in contrast to plasma samples. TNF-alpha was present at a high concentration in BM (150.9 pg/ml), probably a reflection of the associated disease pathology of severe bone pain and pyrexia. In summary, this paper details clinical and laboratory investigations of a leukemia of a rare NK cell subset.

Corkscrew angiopathy of intracranial vessels in a young stroke patient: a case report.

PubMed

Alurkar, Anand; Karanam, Lakshmi Sudha P; Oak, Sagar P

2012-10-23

We present a rare finding of a 'corkscrew appearance' of the distal cerebral vessels in a young Asian woman who presented with acute stroke. A 32-year-old Asian woman presented with a 3-month history of recurrent right-sided transient ischemic attacks. Her clinical workup and brain imaging results were normal. A digital subtraction angiogram revealed an abnormal corkscrew appearance of all intracranial distal vessels. She was discharged on a single antiplatelet drug. She had no further transient ischemic attacks on clinical follow-up. A digital subtraction angiogram performed 1 year later revealed no changes in the appearance of these vessels. To the best of our knowledge no similar previous reports exist in the literature. The present report describes a unique case of an unusual corkscrew appearance of the distal intracranial vessels. However, the underlying etiology in the present case remains unknown.

Unusual Aetiology of Pasteurella canis Biovar 2 Causing Dacryocystitis in HIV Patient: A Case Report and Review of Literature

PubMed Central

Negi, Sanjay Singh; Gade, Neeta

2017-01-01

Pasteurella species are zoonotic bacterial pathogens implicated very infrequently in various human infections following animal bites or licks usually of dogs and cats. This case report described a rare clinical presentation of dacryocystitis caused by P.canis in a Human Immunodeficiency Virus (HIV) positive young male patient involved in caring of cattle. It advocates the utmost need of recognizing the wide clinical manifestation spectrum of P.canis even without prior penetrating injury. P.canis associated clinical infection is more extensive than had been thought previously especially in immunocompromised patient. Early accurate identification and evidence based anti-microbial therapy may prove crucial in preventing further potential complications. PMID:28384864

Clinical Aspects of Idiopathic Inflammatory Bowel Disease: A Review for Pathologists.

PubMed

Lee, Hwajeong; Westerhoff, Maria; Shen, Bo; Liu, Xiuli

2016-05-01

-Idiopathic inflammatory bowel disease manifests with different clinical phenotypes showing varying behavior and risk for neoplasia. The clinical questions that are posed to pathologists differ depending on phase of the disease and the clinical circumstances. Understanding the clinical aspects of the dynamic disease process will enhance the role of pathology in optimizing the care of patients with inflammatory bowel disease. -To review clinical and surgical aspects of inflammatory bowel disease that are relevant to practicing pathologists. -The literature was reviewed. -Diagnosis and management of inflammatory bowel disease require an integrated evaluation of clinical, endoscopic, radiologic, and pathologic features. Therefore, close interaction between clinicians and pathologists is crucial. Having this team approach improves understanding of the pertinent clinical and surgical aspects of the disease and assists in the recognition of unusual presentation of variants, as well as mimics of idiopathic inflammatory bowel disease, by pathologists.

New clinical and histological patterns of acute disseminated histoplasmosis in human immunodeficiency virus-positive patients with acquired immunodeficiency syndrome.

PubMed

Ollague Sierra, Jose E; Ollague Torres, Jose M

2013-04-01

Histoplasmosis has attained increasing relevance in the past 3 decades because of the appearance of the human immunodeficiency virus (HIV). In most immunocompetent persons, the infection is asymptomatic or can produce a respiratory condition with symptoms and radiological images similar to those observed in pulmonary tuberculosis; in non-HIV+ immunocompromised patients, it can cause respiratory symptoms or evolve into a disseminated infection. The same can occur in acquired immunodeficiency syndrome (AIDS) patients. We have observed a series of HIV+ patients with AIDS who presented with cutaneous histoplasmosis and in whom the clinical and histopathological features were highly unusual, including variable mucocutaneous lesions that were difficult to diagnose clinically. These patients displayed unusual, previously undescribed, histological patterns, including lichenoid pattern, nodular pseudomyxoid pattern, pyogenic granuloma-like pattern, perifollicular pattern, and superficial (S), mid (M), and deep perivascular dermatitis; and more commonly encountered patterns, such as histiocytic lobular panniculitis and focal nodular dermatitis. The novel histopathological patterns of cutaneous involvement by histoplasmosis seen in these patients resembled other common inflammatory and infectious conditions and required a high level of suspicion and the application of special stains for organisms for confirmation. These new, clinical, and histological findings do not seem to be commonly encountered in HIV- patients infected with the fungus but seem to be displayed most prominently in HIV+ patients with AIDS.

Characterization of unusual bacteria isolated from respiratory secretions of cystic fibrosis patients and description of Inquilinus limosus gen. nov., sp. nov.

PubMed

Coenye, Tom; Goris, Johan; Spilker, Theodore; Vandamme, Peter; LiPuma, John J

2002-06-01

Using a polyphasic approach (including cellular protein and fatty acid analysis, biochemical characterization, 16S ribosomal DNA sequencing, and DNA-DNA hybridizations), we characterized 51 bacterial isolates recovered from respiratory secretions of cystic fibrosis (CF) patients. Our analyses showed that 24 isolates belong to taxa that have so far not (or only rarely) been reported from CF patients. These taxa include Acinetobacter sp., Bordetella hinzii, Burkholderia fungorum, Comamonas testosteroni, Chryseobacterium sp., Herbaspirillum sp., Moraxella osloensis, Pandoraea genomospecies 4, Ralstonia gilardii, Ralstonia mannitolilytica, Rhizobium radiobacter, and Xanthomonas sp. In addition, one isolate most likely represents a novel Ralstonia species, whereas nine isolates belong to novel taxa within the alpha-PROTEOBACTERIA: Eight of these latter isolates are classified into the novel genus Inquilinus gen. nov. as Inquilinus limosus gen. nov., sp. nov., or as Inquilinus sp. The remaining 17 isolates are characterized as members of the family ENTEROBACTERIACEAE: The recovery of these species suggests that the CF lung is an ecological niche capable of supporting the growth of a wide variety of bacteria rarely seen in clinical samples. Elucidation of the factors that account for the association between these unusual species and the respiratory tract of CF patients may provide important insights into the pathophysiology of CF infection. Because accurate identification of these organisms in the clinical microbiology laboratory may be problematic, the present study highlights the utility of reference laboratories capable of identifying unusual species recovered from CF sputum.

Endodontic treatment of an unusual connation of permanent mandibular molars: a case report.

PubMed

Liu, Shengbo; Fan, Bing; Peng, Bin; Fan, Mingwen; Bian, Zhuan

2006-10-01

A 27-year-old patient with an anomalous mandibular molar was referred for endodontic therapy. Clinical and radiographic examination revealed the connation of a second mandibular molar with a third molar. Challenging endodontic therapy was performed in the unusual connated molars. A 2-year recall showed good treatment result.

Salmonella Urinary Tract Infection Heralding Thoracic Mycotic Aneurysm: Case Report as Medical Apology

PubMed Central

White, Jennifer L.; Golfus, Gabriel R.; Sadosty, Annie T.

2017-01-01

We report a case as a patient apology as a means of teaching other physicians about a unique presentation of a rare disease. Salmonella species are unusually isolated organisms in urine. In the case described, appreciation for the rarity of Salmonella species in the urine facilitated recognition of a serious disseminated Salmonella infection. Physicians should consider disseminated Salmonella infection, as was found in a patient with an aortic mycotic an eurysm, after isolation of Salmonella in urine despite an initially benign clinical presentation.

An unusual presentation: trichomycosis (trichobacteriosis) capitis in an infant.

PubMed

Takcı, Zennure; Karadağ, Ayşe Serap

2014-01-01

Trichomycosis (trichobacteriosis) is an asymptomatic superficial bacterial colonization of the hair shaft that is clinically characterized by pale yellowish, reddish or blackish sticky, cylindrical concretions surrounding the hair shaft in the axillary or pubic region. As far as we know, the first and only case of trichomycosis capitis was reported in a 8-year-old boy in 2011. We encountered no cases of trichomycosis in infancy in the literature. The current case displays an atypical presentation of trichobacteriosis involving head hair in a 10-month-old male infant.

Sacral Stress Fracture Mimicking Lumbar Radiculopathy in a Mounted Police Officer: Case Report and Literature Review.

PubMed

Bednar, Drew A; Almansoori, Khaled

2015-10-01

Study Design Case report and review of the literature. Objective To present a unique case of L5 radiculopathy caused by a sacral stress fracture without neurologic compression. Methods We present our case and its clinical evolution and review the available literature on similar pathologies. Results Relief of the unusual mechanical loading causing sacral stress fracture led to rapid resolution of radiculopathy. Conclusion L5 radiculopathy can be caused by a sacral stress fracture and can be relieved by simple mechanical treatment of the fracture.

An unusual presentation of pseudocowpox associated with an outbreak of pustular ulcerative vulvovaginitis in a Swedish dairy herd.

PubMed

Blomqvist, Gunilla; Ullman, Karin; Segall, Thomas; Hauzenberger, Elenor; Renström, Lena; Persson-Waller, Karin; Leijon, Mikael; Valarcher, Jean-Francois

2018-03-01

Species Pseudocowpox virus (PCPV; family Poxviridae) is known to cause pustular cutaneous disease in cattle. We describe an outbreak of pseudocowpox with an unusual clinical picture in a free-stall dairy herd of ~80 cows. Approximately 90% of the cows had vesicles, erosions, papules, and scabs on the vulva and vaginal mucosa. Histologic analysis of biopsy tissues indicated a primary, although not specified, viral infection. Transmission electron microscopy revealed parapoxvirus particles in both tissue and vesicular materials. Deep sequencing analysis of extracted DNA from swabbed vesicle areas gave a contig of nearly 120,000 nucleotides, matching the PCPV strain VR 634 with 100% identity. Analyses confirmed the absence of other potential causes of pustular vulvovaginitis such as bovine herpesvirus 1 and Ureaplasma diversum. A rolling cow brush was suspected to be the fomite.

Dense pigmentation of the posterior lens capsule associated with the pigment dispersion syndrome.

PubMed

Lin, Danny Y; Volpicelli, Mark; Singh, Kuldev

2003-12-01

To report an unusual case of pigment dispersion syndrome associated with unilateral dense pigmentation of the posterior lens capsule. Case report. A 59-year-old male with bilateral pigment dispersion syndrome presented with progressive decrease in visual acuity in the left eye over the past 10 to 20 years. Clinical examination revealed the typical findings of pigment dispersion syndrome including the presence of bilateral Krunkenberg spindles, iris transillumination defects, and heavy trabecular meshwork pigmentation. Of note, there was remarkably dense pigmentation of the posterior lens capsule in the eye with decreased visual acuity. Pigmentation of the posterior lens capsule may be a rare finding associated with pigment dispersion syndrome. Such a finding suggests that there may be aqueous flow into the retrolental space in some patients with this condition. The optimal treatment of this unusual condition remains undetermined.

Prosthetic treatment of oligodontia with a tooth-supported overdenture--a case report.

PubMed

Akeredolu, P A

2002-01-01

An unusual case of oligodontia is reported in a 20 year old Nigerian male. It is unusual because of the isolated occurrence of the oligodontia which is unassociated with a family history or any other clinical features suggestive of specific syndromes or severe systemic abnormality. The patient presented with conically or peg shaped anterior and malformed posterior teeth in both the maxilla and mandible. Full mouth periapical radiographs revealed stunted roots, widening of the periodontal space and an unerupted tooth in the right mandibular premolar region. Tooth-supported upper and lower removable partial overdenture were fabricated for him. This modality of treatment is a better choice which helps not only to preserve the alveolar ridge height and improve aesthetics, but also preserves the proprioceptive mechanisms associated with the periodontal membrane of natural teeth.

Glial heterotopia of the orbit: a rare cause of proptosis.

PubMed

Bakhti, Souad; Terkmani, Fella; Tighilt, Nabila; Benmouma, Youcef; Boumehdi, Nazim; Djennas, Mohamed

2016-11-01

Glial heterotopia is defined as presence of normal glial tissue in an unusual location without connection with the brain. It is a very rare clinical entity occuring mostly in the head and neck region which is generally present at birth. Orbital location is very rare. We report a case of a 4-month-old girl presenting congenital proptosis with progressive increase. CT scan revealed an intraorbital mass without bony defect. The patient was operated, and resection was subtotal. Histologically, the tumor was composed of glial tissue with plexus choroid and pathologist concluded glial heterotopia. The child is under constant medical supervision because recurrences can be observed after incomplete resection; she had no new clinical signs at 18 months follow-up.

Atypical presentation of Leigh syndrome associated with a Leber hereditary optic neuropathy primary mitochondrial DNA mutation.

PubMed

Fruhman, Gary; Landsverk, Megan L; Lotze, Timothy E; Hunter, Jill V; Wangler, Michael F; Adesina, Adekunle M; Wong, Lee-Jun C; Scaglia, Fernando

2011-06-01

Leber hereditary optic neuropathy (LHON) is caused by point mutations in mitochondrial DNA (mtDNA), and is characterized by bilateral, painless sub-acute visual loss that develops during the second decade of life. Here we report the case of a five year old girl who presented with clinical and neuroradiological findings reminiscent of Leigh syndrome but carried a mtDNA mutation m.11778G>A (p.R340H) in the MTND4 gene usually observed in patients with LHON. This case is unusual for age of onset, gender, associated neurological findings and evolution, further expanding the clinical spectrum associated with primary LHON mtDNA mutations. Copyright © 2011 Elsevier Inc. All rights reserved.

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.

Stridor: an unusual presentation of juvenile nasopharyngeal angiofibroma

PubMed Central

Singh, Hitendra Prakash; Kumar, Sunil; Vashishtha, Madhukar; Agarwal, Satya Prakash

2014-01-01

Nasopharyngeal angiofibroma is a rare and benign disease, which is mainly found in adolescent male subjects. It is usually diagnosed on clinical grounds on the basis of its presenting symptoms of nasal obstruction, nasal mass and most importantly unprovoked recurrent moderate to severe epistaxis. Imaging studies are only needed to confirm the diagnosis and formulate the management plan. A case of juvenile nasopharyngeal angiofibroma is presented here, which presented to us with severe respiratory distress and stridor. Urgent tracheostomy had to be performed before definitive management could be started. Definitive treatment was excision through modified transpalatal with sublabial route, which resulted in successful outcome. PMID:24711471

Stridor: an unusual presentation of juvenile nasopharyngeal angiofibroma.

PubMed

Singh, Hitendra Prakash; Kumar, Sunil; Vashishtha, Madhukar; Agarwal, Satya Prakash

2014-04-07

Nasopharyngeal angiofibroma is a rare and benign disease, which is mainly found in adolescent male subjects. It is usually diagnosed on clinical grounds on the basis of its presenting symptoms of nasal obstruction, nasal mass and most importantly unprovoked recurrent moderate to severe epistaxis. Imaging studies are only needed to confirm the diagnosis and formulate the management plan. A case of juvenile nasopharyngeal angiofibroma is presented here, which presented to us with severe respiratory distress and stridor. Urgent tracheostomy had to be performed before definitive management could be started. Definitive treatment was excision through modified transpalatal with sublabial route, which resulted in successful outcome.

[Asperger Syndrome and/or Clinical High Risk of Psychosis? A Differential Diagnostic Challenge].

PubMed

Schmidt, Stefanie J; Behar, Ayla; Schultze-Lutter, Frauke

2018-03-01

Asperger Syndrome and/or Clinical High Risk of Psychosis? A Differential Diagnostic Challenge This case-study deals with the often difficult differential diagnosis of Asperger syndrome and a clinical high risk state of psychosis, in particular as indicated by attenuated psychotic symptoms, as well as with its therapeutic implications. The presented case is a 10-year old girl, who has not been diagnosed with an autism spectrum disorder before being referred to a specialized center for early detection of psychosis due to possible hallucinatory experiences and delusional ideas. We demonstrate how to perform a context-sensitive differential diagnosis to distinguish between specific interests as well as related behaviors and unusual thought content as well as perceptive abnormalities, between paranoid ideas and biased interpretations of the behaviors of others typical for autism, and between disorganized symptoms and autistic unusual communication and social behavior. The resulting dual diagnoses in our case-study formed the basis for a complex differential indication, which considered both the increased stress vulnerability associated with an increased risk for the development of psychosis as well as the rigid thinking style associated with autism. Our case-report shows that such a precise differential indication can lead to stabilization over the long-term, even in patients with dual diagnoses.

[Report of a case with Joubert syndrome and literature review].

PubMed

Yi, Ya-hui; Li, Gang; Lu, Zhong-lie; Zhou, Jian-sheng; Yao, Zhen-wei; Wang, Peng-fei; Yao, Jin-xiang

2011-12-01

To explore the clinical feature, imaging and their diagnostic value for Joubert syndrome (JS). The clinical data, imaging feature, and 31 references from China Biomedical literature database (CBMdise) were reviewed and analyzed. The age of onset of 32 patients including male 20 and female 12 ranged from 3 days to 6 years (mean 2.2 years). All the 32 patients with Joubert syndrome showed "slow growth" and "reduced muscle tension", 26 cases (81.3%) showed "gasp for breath", 26 cases (81.3%) showed "unusual motion of eyeball", 2 cases (6.3%) showed additional fingers (toes), 6 cases (18.8%) showed stretching tongue with agape. The typical imaging features of Joubert syndrome included "molar tooth sign", "midline cleavage" between cerebellar hemispheres and "bat-wing" like fourth ventricle, all the 32 patients with Joubert syndrome showed "midline cleavage", "molar tooth sign" was present in 29 cases (90.1%), and "bat-wing" like fourth ventricle in 30 cases (93.8%). Joubert syndrome is a rare congenital brain malformation. The typical clinical manifestations included "gasp for breath", "reduced tension of muscle", "slow growth" and "unusual motion of eyeball", and at the same time the patients had the following typical imaging features of brain: "molar tooth sign", "midline cleavage" and "bat-wing" like fourth ventricle.

18q- and 18q+ mosaicism in a mentally retarded boy

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

Ausems, M.G.E.M.; Bhola, S.L.; France, H.F. de

A mentally retarded boy was found to have an unusual chromosomal mosaicism [46,XY,del(18) (q22)/46,XY,iso psu dic(18)(q23)]. The clinical manifestations are compatible with the 18q- syndrome. The chromosome alteration was defined by high resolution banding and fluorescence in situ hybridization (FISH). A mechanism to explain the origin of the two cell lines is presented and discussed. 6 refs., 4 figs., 1 tab.

Allergic Colitis With Pneumatosis Intestinalis in an Infant.

PubMed

Liu, Helena; Turner, Troy W S

2018-01-01

Inflammatory causes of bloody diarrhea during infancy include necrotizing enterocolitis and allergic colitis, often due to cow's milk protein. We report this case of cow's milk protein allergy, managed successfully with elimination of dietary antigen, to highlight the unusual finding of pneumatosis intestinalis on abdominal x-ray, a radiographic hallmark associated with necrotizing enterocolitis. Detailed patient's history, clinical presentation, and physical examinations are discussed for cow's milk protein allergy and necrotizing enterocolitis.

Unusual Surprises in Glaucoma Filtering Surgeries: Lessons Learned and Review of Literature.

PubMed

Rao, Aparna; Padhy, Debananda; Roy, Avik Kumar; Senthil, Sirisha

2018-01-01

To describe an unusual series of complications after glaucoma filtering surgeries with their clinical findings and outcome after tailored non-conventional modes of therapy. Eighteen patients who underwent re-interventions (medical or surgical) after glaucoma filtering surgeries during the period at two tertiary centers, excluding those that required conventional modes of treatment (medical control or re-trabeculectomy, simple wound closure for traumatic wound dehiscence, bleb revision or needling, laser iridotomy), were included. Relevant clinical details with intraoperative videos, intraoperative or postoperative problems, and images with course after re-intervention were retrieved from the hospital database. Clinical details which helped in clinching diagnosis and cause for problems and course after intervention with final vision and intraocular pressure were evaluated. Six of 18 eyes required surgical management for an unusual course of events after an uneventful filtering surgery. Bleb morphology and close follow-up of the conjunctiva, in addition to intraocular pressure (IOP) and anterior chamber (AC) configuration, helped diagnose possible aetiology and appropriate tailored management. All patients had good IOP and visual outcome in all except one with macular scar status after retinal detachment surgery. Assessment of the bleb morphology in the postoperative course coupled with monitoring of the conjunctival wound are essential to conventional monitoring of IOP and anterior chamber configuration to arrive at appropriate management for rare unusual events after glaucoma surgery.

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

Diffuse Lewy body disease: clinical features in 15 cases.

PubMed Central

Byrne, E J; Lennox, G; Lowe, J; Godwin-Austen, R B

1989-01-01

Fifteen cases of diffuse Lewy body disease were diagnosed on pathological grounds during a single year in one health district. The range and frequency of clinical features contrast strikingly with previous reports. The majority of cases presented with classical levodopa-responsive Parkinson's disease either alone (6 cases) or with mild cognitive impairment (3 cases); the remaining 6 cases presented with cognitive impairment alone. In time almost all patients developed both dementia and Parkinsonism. The dementia was cortical in type, but unusual in that most (12 cases) showed day-to-day fluctuation in severity at some point in their illness. These findings suggest that diffuse Lewy body disease is not rare, and that it presents in a range of ways from dementia with subsequent Parkinsonism to Parkinson's disease with subsequent dementia. The latter mode of presentation suggests that it should be considered as a significant pathological substrate of dementia in Parkinson's disease. Images PMID:2545827

Congenital Shunts of the Portal Venous System: Case-series of Uncommon Shunts.

PubMed

Santos, Liliana; Nobre, Susana; Laezza, Nadia; Cunha, Catarina; Gonçalves, Isabel; Lopes, Maria F

Congenital shunts of the portal venous system are rare entities that can present in children with clinical heterogeneity. To evaluate the clinical course of children with uncommon shunts presenting to our institution and examine the available literature on this topic. Medical records of children with rare forms of congenital shunts were retrospectively reviewed for demographics, symptoms, management, and outcome between 2003 and 2016. Three female patients with congenital shunts, including a congenital mesenterico-portal Rex shunt (n = 1) and congenital portosystemic shunts (CPSS) (n = 2), were referred for surgical evaluation between ages 4 and 9. Median follow-up was 8 years (range, 6-13 years). One asymptomatic patient did not require treatment and remained disease-free during long-term follow-up. The other 2 patients with CPSS and unusual symptoms, including liver focal nodular hyperplasia (FNH) in infancy (n = 1) and bleeding from esophageal varices (n = 1), showed subsequent progression to liver nodules that were managed by endovascular shunt occlusion. One patient showed symptom resolution and the other showed stable lesions at last follow-up. Literature yielded descriptions of two cases of congenital mesenterico-portal Rex shunt, one case of coincident CPSS and FNH in infancy, but zero reports of bleeding from esophageal varices. This case series examines each distinct patient's presentation, discusses the diagnosis, management and outcome and compares findings while discussing literature on this topic. A high index of suspicion and familiarity with unusual forms and treatment options is required to allow timely diagnosis and appropriate treatment.

Severe intermittent anxiety attacks. A diagnosis challenge in temporal lobe epilepsy.

PubMed

Alshomrani, Abdulaziz T; Zaidan, Radwan M; Abdulmalik, Yosef T; Alrahili, Nader M

2017-01-01

Psychiatric symptoms are frequently reported with epilepsy. Anxiety symptoms are the most common psychiatric expressions of temporal lobe epilepsy (TLE). Longer duration of the epileptic manifestation can be mistaken for psychiatric diseases, particularly when psychiatric symptoms are the only manifestations of the disorder. Here we introduce a case of a 27-year-old Saudi man presented to our clinic with a history of sudden and severe anxiety attacks over the prior 2 years, each lasting for 2-3 days. The attacks recurred monthly without clear triggers, and he recovered his normal clinical state between them. His condition worsened with antidepressants and improved with antiepileptic. Later follow ups and work ups supported the diagnosis of temporal lobe epilepsy. Diagnosis after such presentation may be challenging and we tried, in this case, to enhance awareness of such an unusual presentation.

Bilateral sudden sensorineural hearing loss as a presenting feature of systemic lupus erythematosus

PubMed Central

Chawki, Sylvain; Aouizerate, Jessie; Trad, Selim; Prinseau, Jacques; Hanslik, Thomas

2016-01-01

Abstract Introduction: Sudden sensorineural hearing loss is an unusual presenting clinical feature of systemic lupus erythematosus. Case report: We report the case of a young woman who was admitted to hospital for sudden sensorineural hearing loss and hemophagocytic syndrome which was attributed to systemic lupus erythematosus on the basis of specific renal involvement, thrombocytopenia, and consistent autoantibodies. Favorable outcome was obtained on high-dose corticosteroids, and the hearing fully recovered. Discussion: Sudden sensorineural hearing loss in systemic lupus erythematosus is seemingly more frequently associated with severe systemic involvement and antiphospholipid antibodies may be present. Although management remains empirical, the high risk of permanent hearing impairment seems to justify emergency treatment with high-dose corticosteroids. When the clinical and laboratory criteria of antiphospholipid syndrome are met, antiplatelets agents or anticoagulation therapy shall be considered. PMID:27603334

Cervical Lymphadenopathy Mimicking Angioimmunoblastic T-Cell Lymphoma after Dapsone-Induced Hypersensitivity Syndrome

PubMed Central

Rim, Min Young; Hong, Junshik; Yo, Inku; Park, Hyeonsu; Chung, Dong Hae; Ahn, Jeong Yeal; Park, Jinny; Kim, Yun Soo; Lee, Jae Hoon

2012-01-01

A 36-year-old woman presented with erythematous confluent macules on her whole body with fever and chills associated with jaundice after 8 months of dapsone therapy. Her symptoms had developed progressively, and a physical examination revealed bilateral cervical lymphadenopathy and splenomegaly. Excisional biopsy of a cervical lymph node showed effacement of the normal architecture with atypical lymphoid hyperplasia and proliferation of high endothelial venules compatible with angioimmunoblastic T-cell lymphoma. However, it was assumed that the cervical lymphadenopathy was a clinical manifestation of a systemic hypersensitivity reaction because her clinical course was reminiscent of dapsone-induced hypersensitivity syndrome. A liver biopsy revealed drug-induced hepatitis with no evidence of lymphomatous involvement. Intravenous glucocorticoid was immediately initiated and her symptoms and clinical disease dramatically improved. The authors present an unusual case of cervical lymphadenopathy mimicking angioimmunoblastic T-cell lymphoma as an adverse reaction to dapsone. PMID:23323115

Peripheral T-cell lymphoma with unusual clinical presentation of rhabdomyolysis.

PubMed

Liu, Zhiyu; Medeiros, L Jeffrey; Young, Ken H

2017-03-01

Primary extranodal lymphoma is known to occur in nose, gastrointestinal tract, skin, bone, and central nervous system. However, it is extremely rare for primary lymphoma to arise in skeletal muscle. We report a case of a 32-year-old man who presented initially with fever and fatigue. He had a history of alcohol abuse. Laboratory studies and computerized tomography scan showed results consistent with rhabdomyolysis, but the cause of the rhabdomyolysis was undetermined. After biopsy of abdominal skeletal muscle with histologic examination and T-cell receptor gamma chain gene rearrangement analysis, the diagnosis of peripheral T-cell lymphoma was established. After two cycles of the cyclophosphamide, doxorubicin, vincristine, prednisone, and etoposide regimen, the patient's symptoms greatly improved. This is the third reported case of peripheral T-cell lymphoma arising in skeletal muscle reported in the literature and which presented clinically with rhabdomyolysis. The alcohol abuse during the clinical course likely worsens the pathologic process of the rhabdomyolysis. Copyright © 2015 John Wiley & Sons, Ltd. Copyright © 2015 John Wiley & Sons, Ltd.

Epidemiological findings and clinical and magnetic resonance presentations in subacute sclerosing panencephalitis.

PubMed

Cece, H; Tokay, L; Yildiz, S; Karakas, O; Karakas, E; Iscan, A

2011-01-01

Subacute sclerosing panencephalitis (SSPE) is a rare, progressive, inflammatory neurodegenerative disease. This study investigated the relationships of clinical stage with epidemiological and magnetic resonance imaging (MRI) findings in SSPE by retrospective review of 76 cases (57 male) diagnosed by typical periodic electroencephalographic features, clinical symptoms and elevated measles antibody titre in cerebrospinal fluid. Clinical stage at diagnosis was I or II in 48 patients, III in 25 and IV in three. Prominent findings at presentation were atonic/myoclonic seizures (57.9%) and mental deterioration with behaviour alteration (30.3%). Frequent MRI findings (13 - 32 patients) were subcortical, periventricular and cortical involvement and brain atrophy; the corpus callosum, basal ganglia, cerebellum and brainstem were less frequently involved. Five patients had pseudotumour cerebri. Cranial MRI at initial diagnosis was normal in 21 patients (19 stage I/II, two stage III/IV). Abnormal MRI findings were significantly more frequent in the later stages, thus a normal initial cranial MRI does not exclude SSPE, which should, therefore, be kept in mind in childhood demyelinating diseases even when the presentation is unusual.

Orthostatic hypotension as an unusual clinical manifestation of pheochromocytoma: a case report.

PubMed

Bortnik, Miriam; Occhetta, Eraldo; Marino, Paolo

2008-08-01

Pheochromocytoma is a rare endocrine tumor which can have a highly variable presentation related to increased catecholamine secretion. We report the case of a 74-year-old man in whom recurrent episodes of syncope due to orthostatic hypotension were the only clinical manifestations of this challenging entity. Diagnosis of pheochromocytoma was achieved by biochemical test samples and computed tomography scans. Surgical excision of the tumor resulted in clinical improvement with normalization of catecholamine concentrations and no more episodes of orthostatic hypotension during a follow-up of 24 months. Although rare, pheochromocytoma may frequently cause disorders of orthostatic tolerance; because of its meaningful implications, screening for this entity should be considered in case of recurrent syncopal episodes due to new-onset orthostatic hypotension.

Clinical spectrum of Kawasaki disease in infants younger than 6 months of age.

PubMed

Burns, J C; Wiggins, J W; Toews, W H; Newburger, J W; Leung, D Y; Wilson, H; Glodé, M P

1986-11-01

We report an unselected series of eight patients younger than 6 months of age with Kawasaki disease evaluated between January 1982 and May 1984. The incidence of coronary artery aneurysms (six patients) and the mortality (two patients) were unusually high in this small series. Because of the confusing clinical presentation in three patients, diagnosis was delayed until pathologic or echocardiographic evidence of coronary vasculitis or aneurysm was discovered. The currently accepted clinical criteria for Kawasaki disease may not always identify patients with the pathologic findings of the syndrome who are younger than 6 months of age. The diagnosis of Kawasaki disease and echocardiographic evaluation of the coronary arteries should be considered in young infants with prolonged fever of unknown origin.

Isolated scaphoid dislocation associated with axial carpal dissociation: an unusual injury report.

PubMed

Horton, Todd; Shin, Alexander Y; Cooney, William P

2004-11-01

We present a report of a patient with an isolated scaphoid dislocation associated with a hyperextension and axial loading injury of the carpus required a careful and extensive clinical and radiographic evaluation leading to surgical intervention to reduce and stabilize the scaphoid and to reduce and hold internally the axial carpal injury. Knowledge of the anatomy and the potential injury patterns of the carpus will aid the hand surgeon with injury recognition and proper treatment.

Spontaneous Tricuspid Valve Chordal Rupture in Idiopathic Pulmonary Hypertension.

PubMed

Rodrigues, Ana Clara Tude; Afonso, José E; Cordovil, Adriana; Monaco, Claudia; Piveta, Rafael; Cordovil, Rodrigo; Fischer, Claudio H; Vieira, Marcelo; Lira-Filho, Edgar; Morhy, Samira S

2016-03-01

Rupture of tricuspid valve is unusual, occurring mainly in the setting of blunt trauma or endomyocardial biopsy. Spontaneous tricuspid valve chordal rupture is particularly rare. We report herein a case of a patient with severe pulmonary hypertension, on the lung transplantation waiting list, who presented with spontaneous chordal rupture, exacerbation of tricuspid insufficiency and worsening of clinical status. Diagnosis and treatment, along with possible mechanisms for this complication, are discussed. © 2015, Wiley Periodicals, Inc.

Ultrasound and MRI of Pediatric Ocular Masses with Histopathologic Correlation

PubMed Central

Brennan, Rachel C.; Wilson, Matthew W.; Kaste, Sue; Helton, Kathleen J.; McCarville, M. Beth

2012-01-01

We review our experience with unusual ocular pathologies mimicking retinoblastoma that were referred to our institution over the past two decades. After presenting the imaging anatomy of the normal eye, we discuss pertinent clinical and pathological features, and illustrate the ultrasound and magnetic resonance imaging appearance of retinoblastoma, medulloepithelioma, uveal melanoma, persistent fetal vasculature, Coats disease, corneal dermoid, retinal dysplasia and toxocara granuloma. Features useful in discriminating between these entities are emphasized. PMID:22466750

Appendicular bleeding: an excepcional cause of lower hemorrhage.

PubMed

Magaz Martínez, Marta; Martín López, Javier; De la Revilla Negro, Juan; González Partida, Irene; de Las Heras, Tania; Sánchez Yuste, María Rosario; Ríos Garcés, Roberto; Salas Antón, Clara; Abreu García, Luis Esteban

2016-07-01

Chronic complications of acute appendicitis managed in a conservative manner are not frequent. We present a case of acute lower gastrointestinal hemorrhage in a young patient with a previous acute appendicitis without surgical intervention. The colonoscopy detected an appendicular bleeding which was surgically treated. The anatomopathological diagnosis was granulomatous appendicitis. The clinical evolution of the patient was favorable without bleeding recurrence. Appendicular hemorrhage can be an unusual complication-however potentially severe-of acute appendicitis not treated surgically.

Clinical and Molecular Aspects of an Informative Family with Neurofibromatosis Type 1 and Noonan Phenotype

PubMed Central

Stevenson, David A.; Viskochil, David H.; Rope, Alan F.; Carey, John C.

2011-01-01

NF-Noonan syndrome (NFNS) has been described as a unique phenotype, combining manifestations of neurofibromatosis type 1 (NF1) and Noonan syndromes, which are separate syndromes. Potential etiologies of NF-Noonan syndrome include a discrete syndrome of distinct etiology, co-segregation of two mutated common genes, variable clinical expressivity of NF1, and/or allelic heterogeneity. We present an informative family with an unusual NF1 mutation with variable features of NF1 and Noonan syndrome. We hypothesize that an NF1 mutant allele can lead to diagnostic manifestations of Noonan syndrome, supporting the hypothesis that NF1 allelic heterogeneity causes NFNS. PMID:16542390

Fundamental Ethical Principles in Sports Medicine.

PubMed

Devitt, Brian M

2016-04-01

In sports medicine, the practice of ethics presents many unique challenges because of the unusual clinical environment of caring for players within the context of a team whose primary goal is to win. Ethical issues frequently arise because a doctor-patient-team triad often replaces the traditional doctor-patient relationship. Conflict may exist when the team's priority clashes with or even replaces the doctor's obligation to player well-being. Customary ethical norms that govern most forms of clinical practice, such as autonomy and confidentiality, are not easily translated to sports medicine. Ethical principles and examples of how they relate to sports medicine are discussed. Copyright © 2016 Elsevier Inc. All rights reserved.

Small bowel obstruction by an anomalous congenital band.

PubMed

Nouira, F; Sarrai, N; Charieg, A; Jlidi, S; Chaouachi, B

2012-01-01

We report a case of a 3-year-old boy who presented with symptoms and signs of intestinal obstruction. The patient reported no previous history of abdominal surgery or trauma while clinical and radiographic examinations were not diagnostic. An open laparotomy was subsequently performed and the intraoperative findings were consistent with a congenital band extending from the antimesenteric wall of the jejunum to the root of mesentery. The band was ligated and divided with an uneventful postoperative course. Congenital bands are extremely rare. Their exact incidence is still unknown. This case, therefore, represents an unusual surgical problem in a child in which the diagnosis was clinically unexpected.

Sudden cardiac death and sarcoidosis of the heart in a young patient.

PubMed

Jotterand, Morgane; Grabherr, Silke; Lobrinus, Johannes Alexandre; Michaud, Katarzyna

Sarcoidosis is a granulomatous disease of unknown etiology affecting any organ, microscopically characterized by noncaseating granulomata. Cardiac involvement in sarcoidosis has been reported. It might be symptomatic or not and even revealed by sudden death. Heart conduction system is rarely investigated at autopsy, even in cases of sudden cardiac death. We present a case of a 32-year-old woman who died suddenly. The examination of the heart conduction system revealed a cardiac sarcoidosis that could explain the sudden death. The review of clinical data of the patient revealed some symptoms consistent/in agreement with this hypothesis. Cardiac sarcoidosis remains a diagnostic challenge and can be easily missed, clinically and pathologically. The retrospective analysis of clinical data and autopsy results of fatal and unusual cases might help to better understand sarcoidosis and its clinical presentations. Examination of the cardiac conduction system is crucial in selected cases of sudden cardiac death. Copyright © 2017 Elsevier Inc. All rights reserved.

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.

[The physician as Sherlock Holmes. Accident, murder by poisoning or suicide?].

PubMed

Penning, R

2001-12-06

Any case of unclear or atypical clinical presentation must arouse a suspicion of poisoning. Although pathognomonic findings are rare, there may nevertheless be an accumulation of signs and symptoms. These include impairment of consciousness, vertigo, headache, circulatory disorders, cramps/convulsions, vomiting, diarrhea and abdominal pains. Forensic terminology differentiates between outside influence, self-poisoning and accidental poisoning. In the former case, substances are used that are deadly in small amounts, and are unremarkable in appearance, smell and taste. The poisons used by suicides are usually commonly used poisonous substances that are freely available to purchasers. For forensic purposes, it is essential that specimens of blood, urine or stomach contents be obtained for toxicological investigations. Inspection of the corpse must routinely include a search for unusual signs (e.g. traces of powder around the mouth, foam at the mouth and nose, desiccation, unusual postmortem lividity, hair loss, etc.).

[Cornelia de Lange Syndrome and multiple hormonal deficiency, an unusual association. Clinical case].

PubMed

Mora-Bautista, Víctor M; Mendoza-Rojas, Víctor; Contreras-García, Gustavo A

2017-06-01

Cornelia de Lange syndrome is a genetic disease characterized by distinctive facial features, failure to thrive, microcephaly and several malformations associated. Its main endocrinological features are anomalies of the genitalia. We present a 13-year-old boy, who suffered from complicated aspiration pneumonia and showed Cornelia de Lange syndrome phenotype, with global developmental delay, suction-swallowing abnormalities, short stature and abnormal genitalia associated. His bone age was delayed, so he underwent full endocrinological panel. Central hypothyroidism, growth hormone deficiency and low luteinizing hormone-follicle-stimulating hormone levels were observed and multiple pituitary hormone deficiencies diagnosis was made. Basal cortisol, adrenocorticotropic hormone and prolactin levels were normal. He received thyroid hormonal substitution. Multiple pituitary hormone deficiencies are an unusual feature of De Lange syndrome. We suggest evaluating all different endocrine axes in these patients. Sociedad Argentina de Pediatría.

Thyrotropinoma and multinodular goiter: A diagnostic challenge for hyperthyroidism.

PubMed

Aksoy, Duygu Yazgan; Gedik, Arzu; Cinar, Nese; Soylemezoglu, Figen; Berker, Mustafa; Gurlek, Omer Alper

2013-11-01

Thyroid disorders are frequently encountered. The diagnosis is straightforward unless clinical or laboratory findings are inconclusive and/or perplexing. Hyperthyroidism due to a thyrotropin-secreting pituitary adenoma rarely occurs and symptoms due to thyroid hormone excess are subtle. The presentation of the disease becomes unusual when co-secretion of other hormones with thyrotropin or concomitant thyroid parenchymal pathology exist. We present the case of a 63-year-old female patient with thyrotropinoma co-secreting growth hormone and multinodular goiter. She developed hyperthyroidism first due to thyrotropinoma and later due to a toxic nodule. Herein, we discuss the diagnostic and therapeutic challenges of hyperthyroidism with atypical presentation.

Preclinical Cushing's syndrome presenting with isolated adrenocorticotropin (ACTH) deficiency-like manifestations and severe hypoalbuminemia without overt adrenal masses in a patient with Chilaiditi syndrome and mental retardation.

PubMed

Ikeda, Keiichi; Mizuguchi, Masato; Ebisawa, Toshihiro; Yoshida, Masaki; Uchida, Hiroyuki; Okabe, Hideaki; Sekita, Toru; Tojo, Katsuyoshi; Tajima, Naoko; Hosoya, Tatsuo

2003-05-01

A 52-year-old man with Chilaiditi syndrome and mental retardation was admitted to Kanagawa Rehabilitation Hospital for severe hypoglycemic coma with malnutrition. This patient was first diagnosed as partial isolated adrenocorticotropin deficiency according to his symptoms and clinical course, but he was finally diagnosed as preclinical Cushing's syndrome. Manifestations of this case seemed unusual in spite of autonomic cortisol secretion and the detailed mechanisms of symptoms were unclear. The present case indicates that preclinical Cushing's syndrome may present with various manifestations, and careful diagnosis is necessary.

Dyke-Davidoff-Masson Syndrome. An unusual cause of status epilepticus.

PubMed

Zawar, Ifrah; Khan, Ashfa A; Sultan, Tipu; Rathore, Ahsan W

2015-10-01

The Dyke-Davidoff-Masson Syndrome (DDMS) results from an insult to the growing brain in utero or early infancy, which lead to loss of neurons compromising the growth of the brain. Clinical presentation includes seizures, hemiparesis, facial asymmetry, and learning disability. Radiological findings include cerebral atrophy on one side. Here, we present a case with status epilepticus who had underlying DDMS. It is a rare syndrome and uncommon cause for status epilepticus. Infections of CNS, hypoxic ischemic encephalopathy, intracranial bleed, trauma, congenital vascular malformations are the common causes of this syndrome. Diagnosis is established after clinical history, examination, and MRI. Intractable seizures can be controlled with appropriate anticonvulsants. Subsequently, these children may require physiotherapy, speech therapy, and occupational therapy in addition to the anticonvulsant medication. Outcome is better if the seizures are controlled.

Pheochromocytoma presenting with Takotsubo syndrome.

PubMed

Marcovitz, Pamela A; Czako, Peter; Rosenblatt, Solomon; Billecke, Scott S

2010-10-01

The clinical presentation of Takotsubo syndrome, or apical ballooning syndrome, resembles an extensive anterolateral myocardial infarction with chest pain symptoms and electrocardiographic ST-elevation or T-wave inversion noted in most patients. However, coronary arteries are invariably found to be normal or to display minimal atherosclerotic disease despite modest elevation of cardiac enzymes. Since most cases of Takotsubo syndrome occur after intense physical and/or emotional stress, catecholamine surge appears to be a common underlying mechanism. We present a case of Takotsubo syndrome, which presented with unusual symptoms and was found to be caused by pheochromocytoma. A sudden rise in blood pressure moments after completion of echocardiographic stress testing aided in uncovering the diagnosis. ©2010, Wiley Periodicals, Inc.

Severe mitral stenosis with atypical presentation: hemorrhagic pleural effusion--a case report and literature review.

PubMed

Albalbissi, Kais A; Burress, Jonathan W; Garcia, Israel D; Iskandar, Said B

2009-02-01

Mitral stenosis is a well-described valvular heart disease. We report a 68-year-old patient with an unusual presentation of mitral stenosis. He presented with recurrent episodes of hemorrhagic pleural effusion. Afterwards, an extensive atrial thrombosis complicated his course of illness. We will discuss how the clinical presentation of mitral stenosis is mainly dictated by the underlying pathophysiology of the disease. Also, the need for anticoagulation in the setting of mitral stenosis is often linked to the presence of atrial fibrillation. We will discuss the independent risk factors for thromboembolism in the setting of mitral stenosis. Finally, a review of the current recommendation for anticoagulation is conferred.

Antenatal hemorrhage of a cervical lymphatic malformation presenting as a draining neck mass: An unusual presentation.

PubMed

Haricharan, R N; Nawaz, M; Bettolli, M; Ferretti, E

2014-01-01

Lymphatic malformations in the neck can present as large fetal neck masses causing airway obstructions with potential perinatal demise and can pose a therapeutic challenge. We present a rare case of prenatally diagnosed large fetal neck mass with features of lymphatic malformation with intralesional hemorrhage of uncertain origin. Postnatal evaluation showed a complex cystic-solid lesion eroding through the skin with an open wound that made it clinically hard to differentiate from a teratoma. Given that malignancy could not be completely ruled out, surgery was favored. Final pathology showed a complex lymphatic malformation with intralesional hemorrhage, despite having no associated capillary, venous or arterial malformations.

[Ureterostomy cytomegalovirus infection presenting as stoma ulceration in a kidney allograft receptor: a case report].

PubMed

Rico, J E; Cardona, X; Rodelo, J; Reino, A; Arias, L F; Arbeláez, M

2008-06-01

Cytomegalovirus (CMV) is the most common viral infection affecting transplant patients, but urinary tract involvement has been rare. Only a few cases of symptomatic ureteritis have been reported in renal transplant recipients. In previous reports the presentation of CMV ureteritis is obstructive nephropathy, often in the absence of systemic illness, or rarely it may also mimic allograft rejection with minimal obstructive symptoms. We describe an additional case of CMV ureteritis in a patient with cutaneous ureterostomy. The unusual clinical presentation with urinary infection symptoms and ureterostomy stoma ulceration constitute a very particular presentation. The increasing report cases with CMV ureteritis suggest an increase of this post-transplant complication.

Herpes simplex virus type 1 encephalitis and unusual retinitis in a patient with systemic lupus erythematosus.

PubMed

Zhang, L; Liu, J J; Li, M T

2013-11-01

In this report we discuss a case of a patient with systemic lupus erythematosus who developed herpes simplex virus type 1(HSV-1) infection presenting with encephalitis as well as necrotic and non-necrotic retinitis. The patient presented with typical clinical symptoms and radiologic abnormalities consistent with HSV-1 encephalitis and HSV-1 retinitis in patients with HIV infection, but lacked cerebrospinal fluid pleocytosis and had bilateral retinitis with poor visual acuity. To the best of our knowledge, this is the first such case reported in the literature.

Thyrotoxicosis Presenting as Unilateral Drop Foot

PubMed Central

Hara, Kenju; Miyata, Hajime; Motegi, Takahide; Shibano, Ken; Ishiguro, Hideaki

2017-01-01

Neuromuscular disorders associated with hyperthyroidism have several variations in their clinical phenotype, such as ophthalmopathy, periodic paralysis, and thyrotoxic myopathy. We herein report an unusual case of thyrotoxic myopathy presenting as unilateral drop foot. Histopathological examinations of the left tibialis anterior muscle showed marked variation in the fiber size, mild inflammatory cell infiltration, and necrotic and regenerated muscle fibers with predominantly type 1 fiber atrophy. Medical treatment with propylthiouracil resulted in complete improvement of the left drop foot. This case expands the phenotype of thyrotoxicosis and suggests that thyrotoxicosis be considered as a possible cause of unilateral drop foot. PMID:28768980

Thyrotoxicosis Presenting as Unilateral Drop Foot.

PubMed

Hara, Kenju; Miyata, Hajime; Motegi, Takahide; Shibano, Ken; Ishiguro, Hideaki

2017-01-01

Neuromuscular disorders associated with hyperthyroidism have several variations in their clinical phenotype, such as ophthalmopathy, periodic paralysis, and thyrotoxic myopathy. We herein report an unusual case of thyrotoxic myopathy presenting as unilateral drop foot. Histopathological examinations of the left tibialis anterior muscle showed marked variation in the fiber size, mild inflammatory cell infiltration, and necrotic and regenerated muscle fibers with predominantly type 1 fiber atrophy. Medical treatment with propylthiouracil resulted in complete improvement of the left drop foot. This case expands the phenotype of thyrotoxicosis and suggests that thyrotoxicosis be considered as a possible cause of unilateral drop foot.

An unusual case of osteonecrosis of the jaw associated with dengue fever and periodontitis.

PubMed

Indurkar, M S; Sethi, R

2016-03-01

Osteonecrosis is a disorder rarely occurring in the jaw. Dengue fever is a common mosquito-borne disease prevalent in many countries including India. The following report presents an interesting case of maxillary osteonecrosis in a middle aged male with a history of dengue infection. We also diagnosed symptoms of chronic periodontitis, which may have potentiated the necrosis. This case report will describe a novel clinical presentation and management of osteonecrosis of the jaw (ONJ) of unknown origin and a possible pathogenesis explaining the association of ONJ with dengue fever and periodontitis. © 2015 Australian Dental Association.

Unusual Clinical Presentation and Role of Decompressive Craniectomy in Herpes Simplex Encephalitis.

PubMed

Singhi, Pratibha; Saini, Arushi Gahlot; Sahu, Jitendra Kumar; Kumar, Nuthan; Vyas, Sameer; Vasishta, Rakesh Kumar; Aggarwal, Ashish

2015-08-01

Decompressive craniectomy in pediatric central nervous infections with refractory intracranial hypertension is less commonly practiced. We describe improved outcome of decompressive craniectomy in a 7-year-old boy with severe herpes simplex encephalitis and medically refractory intracranial hypertension, along with a brief review of the literature. Timely recognition of refractory intracranial hypertension and surgical decompression in children with herpes simplex encephalitis can be life-saving. Additionally, strokelike atypical presentations are being increasingly recognized in children with herpes simplex encephalitis and should not take one away from the underlying herpes simplex encephalitis. © The Author(s) 2014.

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.

Allergic Bronchopulmonary Aspergillosis Presenting as Chronic Cough in an Elderly Woman Without Previously Documented Asthma

PubMed Central

Roth, Richard; Schatz, Michael

2013-01-01

A nonsmoking woman in her mid-70s presents to the allergist for consultation of a chronic cough of almost 3-years’ duration without a specific diagnosis as to etiology in spite of numerous diagnostic tests and therapeutic trials. This is a case report from a specialist point of view that includes a comprehensive review of her clinical course pre- and postconsultation along with a brief but pertinent review of the literature as it relates to this particular unusual and protracted case, which was ultimately successfully diagnosed and treated. PMID:23704852

Multifocal avascular necrosis after liver transplantation: an unusual presentation of the antiphospholipid syndrome.

PubMed

Mundo, J; Peris, P; Monegal, A; Navasa, M; Cervera, R; Guañiabens, N

2006-01-01

We describe the case of a 31-year-old man who presented with an antiphospholipid syndrome (APS), which manifested as multifocal avascular necrosis (AVN) one year after orthotopic liver transplantation. The patient developed multiple AVN affecting hips, left knee, humerus and tarsal bones just after withdrawal of corticosteroid therapy. Three years later when lupus anticoagulant was detected, he began anticoagulant treatment and no further AVN episodes were observed. It is important to be aware of this clinical manifestation of APS, especially in these cases where it can be easily overlooked because of corticosteroid therapy.

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.

Acute viral hepatitis E presenting with haemolytic anaemia and acute renal failure in a patient with glucose-6-phosphate dehydrogenase deficiency.

PubMed

Tomar, Laxmikant Ramkumarsingh; Aggarwal, Amitesh; Jain, Piyush; Rajpal, Surender; Agarwal, Mukul P

2015-10-01

The association of acute hepatitis E viral (HEV) infection with glucose-6-phosphate dehydrogenase (G6PD) deficiency leading to extensive intravascular haemolysis is a very rare clinical entity. Here we discuss such a patient, who presented with acute HEV illness, developed severe intravascular haemolysis and unusually high levels of bilirubin, complicated by acute renal failure (ARF), and was later on found to have a deficiency of G6PD. The patient recovered completely with haemodialysis and supportive management. © The Author(s) 2014.

Unusual MRI findings in an immunocompetent patient with EBV encephalitis: a case report

PubMed Central

2011-01-01

Blackground It is well-known that Epstein-Barr virus (EBV) can affect the central nervous system (CNS). Case presentation Herein the authors report unusual timely Magnetic Resonance Imaging (MRI) brain scan findings in an immunocompetent patient with EBV encephalitis. Diffusion weighted MRI sequence performed during the acute phase of the disease was normal, whereas the Fast Relaxation Fast Spin Echo T2 image showed diffuse signal intensity changes in white matter. The enhancement pattern suggested an inflammatory response restricted to the brain microcirculation. Acyclovir and corticosteroid therapy was administered. After three weeks, all signal intensities returned to normal and the patient showed clinical recovery. Conclusion This report demonstrates that EBV in an immunocompetent adult can present with diffuse, reversible brain white matter involvement in the acute phase of mononucleosis. Moreover, our case suggests that a negative DWI sequence is associated with a favorable improvement in severe EBV CNS infection. More extensive studies are needed to assess what other instrumental data can help to distinguish viral lesions from other causes in the acute phase of disease. PMID:21435249

Calvarial bone cavernous hemangioma with intradural invasion: An unusual aggressive course—Case report and literature review

PubMed Central

Nasi, Davide; Somma, Lucia di; Iacoangeli, Maurizio; Liverotti, Valentina; Zizzi, Antonio; Dobran, Mauro; Gladi, Maurizio; Scerrati, Massimo

2016-01-01

Introduction Cavernous hemangioma of the skull is a rare pathological diagnosis, accounting for 0.2% of bone tumors and 7% of skull tumors. Usually calvarial bone cavernous hemangioma are associated with a benign clinical course and, despite their enlargement and subsequent erosion of the surrounding bone, the inner table of the skull remains intact and the lesion is completely extracranial. Presentation of a case The authors present the unique case of a huge left frontal bone cavernous malformation with intradural extension and brain compression determining a right hemiparesis. Discussion Calvarial cavernous hemangiomas are benign tumors. They arise from vessels in the diploic space and tend to involve the outer table of the skull with relative sparing of the inner table. More extensive involvement of the inner table and extradural space is very unusual and few cases are reported in literature. To the best of our knowledge, intradural invasion of calvarial hemangioma has not been previously reported. Conclusion Our case highlights the possibility of an aggressive course of this rare benign pathology. PMID:27061482

[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.

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.

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.

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.

Iris abscess as an unusual presentation of endogenous endophthalmitis in a patient with bacterial endocarditis.

PubMed

Ramonas, Krista M; Freilich, Benjamin D

2003-02-01

To report the clinical findings and management of a case of endogenous endophthalmitis in a patient with bacterial endocarditis presenting with a septic metastasis to the iris. Observational case report. Review of clinical findings and treatment. A 37-year-old intravenous drug user hospitalized with bacterial endocarditis secondary to methicillin-sensitive Staphylococcus aureus bacteremia presented with a painful red left eye, hypopyon, and iris abscess. Roth spots were noted in the fundus of the right eye. Aqueous culture was positive for methicillin-sensitive S aureus. The patient was treated with intravitreal, topical, and intravenous antibiotics. The hypopyon and iris abscess resolved within 2 weeks, and the patient achieved a final visual acuity of 20/25 in the left eye. Septic metastasis to the iris is a rare occurrence. To our knowledge this is the first reported case of an iris abscess secondary to bacterial endocarditis.

Primary intimal sarcoma of the left atrium presenting with constitutional symptoms

PubMed Central

Ferreira, António; Felgueiras, Paula; Silva, Augusta; Ribeiro, Carlos; Guerra, Diana; de Melo, Daniel Pereira; Manuel Lopes, José

2017-01-01

Abstract Intimal (spindle-cell) sarcomas are exceptionally rare and are highly aggressive cardiac tumors. The authors describe a case of a 43-year-old female, presenting with a 3-month history of constitutional symptoms with fever, night sweats, anorexia and weight loss, associated with productive cough and pleural effusion that was admitted with clinical suspicion of pulmonary tuberculosis. The patient developed sudden acute heart failure symptoms during hospitalization, leading to mechanical ventilation. Computed tomography scan with contrast showed a cardiac tumor filling the left atrium causing compression of pulmonary veins. Surgical resection was performed and histologic examination revealed an intimal sarcoma. Although commenced on adjuvant chemotherapy, local tumor recurrence occurred with pericardium invasion. The patient died within 4 months of initial diagnosis. This report aims to describe an unusual presentation of this rare disease entity, and to discuss its highly aggressive clinical course. PMID:28694971

Unusual sensory variant of Guillain-Barré syndrome.

PubMed

Semproni, Milena; Gibson, Gillian; Kuyper, Laura; Tam, Penny

2017-07-14

We describe a 52-year-old woman presenting with acute onset of severe burning paraesthesia in the hands and feet associated with allodynia and antalgic gait. At the time of admission to hospital no motor weakness was present. A diagnosis of Guillain-Barré syndrome (GBS) was considered when neurophysiological studies were completed showing convincing evidence of demyelination on motor conduction studies and sural sparing on sensory nerve studies. 1 We describe this case as a sensory variant of GBS. Clinical improvement followed treatment with a single course of intravenous immunoglobulin (IVIG). The patient made a complete clinical recovery within 6 months of onset and repeat neurophysiological studies showed marked improvement. We encourage clinicians to consider an atypical variant of GBS in patients presenting with acute sensory complaints. © 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.

Enterprise digital assistants: the progression of wireless clinical computing.

PubMed

Bergeron, Bryan P

2002-01-01

By virtue of increasingly pervasive wireless connectivity, the proliferation of wireless handheld devices in clinical care is rapidly transforming the concept of the personal digital assistant (PDA) to the enterprise digital assistant (EDA). Wireless handheld devices are becoming extensions of the central hospital information system, in which it's understood that the health care enterprise, not the clinician carrying the information-dispensing device, owns the data. The practical implication for clinicians is that, despite the potential long-term benefits of seamless, just-in-time clinical data access, this paradigm shift portends decreased efficiency in the short term, as clinicians duplicate clinical data collection on private devices. Assuming eventual clinician acceptance, EDAs can form the basis of a national real-time clinical data acquisition system that ensures uniform prescribing, decision support, and diagnosis, and the means for tracking unusual disease presentation patterns that could be indicative of bioterrorism or natural disease outbreaks.

An unusual initial presentation of mantle cell lymphoma arising from the lymphoid stroma of warthin tumor.

PubMed

Arcega, Ramir S; Feinstein, Aaron J; Bhuta, Sunita; Blackwell, Keith E; Rao, Nagesh P; Pullarkat, Sheeja T

2015-12-03

Warthin tumors presenting concomitantly with a lymphoma is vanishingly rare with only 15 reported cases in English literature. Herein, we report an unusual initial presentation of a mantle cell lymphoma involving the lymphoid stroma of a Warthin tumor. A seventy-seven year old otherwise healthy gentleman with a 50-pack year smoking history presents with a slowly enlarging left cheek mass. CT scan of the neck demonstrated a left parotid gland tumor measuring 3.4 cm in greatest dimension. He underwent a left superficial parotidectomy, with subsequent histopathologic examination revealing a Warthin tumor with extensive expansion of the lymphoid stroma. Flow cytometric, immunohistochemical, and cytogenetic studies of the stromal component of the tumor confirmed the presence of a mantle cell lymphoma. Clinical staging demonstrated stage IVa disease, and was considered to be at low to intermediate risk due to the slow growth of the parotid lesion. The patient is undergoing close follow up with repeat PET-CT scans at six months. To the best of our knowledge, this is the first well documented collision tumor between mantle cell lymphoma and a Warthin tumor. This case also brings to light the significance of thorough evaluation of the lymphoid component of Warthin tumor.

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.

The many faces of intestinal tract gastric heterotopia; a series of four cases highlighting clinical and pathological heterogeneity.

PubMed

Nasir, Aqsa; Amateau, Stuart K; Khan, Sabina; Simpson, Ross W; Snover, Dale C; Amin, Khalid

2018-04-01

Gastric heterotopia of the intestinal tract can have a diverse clinicopathologic presentation, resulting in a diagnostic dilemma. We present a series of four cases, two male and two female patients with age range of 31-82 years, found in the duodenum, jejunum, and transverse colon. The most common and rather unusual clinical presentation was iron deficiency anemia, seen in three cases, while one patient presented with abdominal pain. Endoscopically, two cases were visualized as pedunculated polyps and two as sessile/plaque-like lesions. Polypectomy was performed in three patients, and one patient underwent biopsy followed by resection. Two cases showed oxyntic-type epithelium, and two cases exhibited pyloric-type gastric epithelium. Three patients were relieved of their presenting symptoms after therapeutic procedures with no evidence of recurrence noted on follow-up. Follow-up was not available on one patient. This case series highlights a diverse clinicopathologic spectrum of gastric heterotopia. Accurate diagnosis is essential for proper management. Copyright © 2018. Published by Elsevier Inc.

Identifying influenza-like illness presentation from unstructured general practice clinical narrative using a text classifier rule-based expert system versus a clinical expert.

PubMed

MacRae, Jayden; Love, Tom; Baker, Michael G; Dowell, Anthony; Carnachan, Matthew; Stubbe, Maria; McBain, Lynn

2015-10-06

We designed and validated a rule-based expert system to identify influenza like illness (ILI) from routinely recorded general practice clinical narrative to aid a larger retrospective research study into the impact of the 2009 influenza pandemic in New Zealand. Rules were assessed using pattern matching heuristics on routine clinical narrative. The system was trained using data from 623 clinical encounters and validated using a clinical expert as a gold standard against a mutually exclusive set of 901 records. We calculated a 98.2 % specificity and 90.2 % sensitivity across an ILI incidence of 12.4 % measured against clinical expert classification. Peak problem list identification of ILI by clinical coding in any month was 9.2 % of all detected ILI presentations. Our system addressed an unusual problem domain for clinical narrative classification; using notational, unstructured, clinician entered information in a community care setting. It performed well compared with other approaches and domains. It has potential applications in real-time surveillance of disease, and in assisted problem list coding for clinicians. Our system identified ILI presentation with sufficient accuracy for use at a population level in the wider research study. The peak coding of 9.2 % illustrated the need for automated coding of unstructured narrative in our study.

Pustular irritant contact dermatitis caused by dexpanthenol in a child.

PubMed

Gulec, Ali Ihsan; Albayrak, Hulya; Uslu, Esma; Başkan, Elife; Aliagaoglu, Cihangir

2015-03-01

Pustular irritant contact dermatitis is rare and unusual clinic form of contact dermatitis. Dexpanthenol is the stable alcoholic analogue of pantothenic acid. It is widely used in cosmetics and topical medical products for several purposes. We present the case of 8-year-old girl with pustules over erythematous and eczematous areas on the face and neck. To the best of our knowledge, this is the first case reported that is diagnosed as pustular irritant contact dermatitis caused by dexpanthenol.

Enterobius vermicularis Salpingitis Seen in the Setting of Ectopic Pregnancy in a Malaysian Patient

PubMed Central

Ravindran, Sarala; Ong, Diana Bee Lan; Chow, Tak Kuan; Low, Kah Pin; Nureena, Zaidi Syeda; Rajoo, Yamuna; Chin, Yuee Teng; Amir, Amirah; Ahmad, Arine Fadzlun; Lim, Yvonne Ai Lian

2014-01-01

We report a rare and unusual case of invasive Enterobius vermicularis infection in a fallopian tube. The patient was a 23-year-old Malaysian woman who presented with suprapubic pain and vaginal bleeding. A clinical diagnosis of ruptured right ovarian ectopic pregnancy was made. She underwent a laparotomy with a right salpingo-oophorectomy. Histopathological examination of the right fallopian tube showed eggs and adult remnants of E. vermicularis, and the results were confirmed using PCR and DNA sequencing. PMID:24989613

Elephantiasis nostras verrucosa on the buttocks and sacrum of two immobile men.

PubMed

Setyadi, Hedy G; Iacco, Megan Reif; Shwayder, Tor A; Ormsby, Adrian

2011-02-15

Though typically involving the lower extremities, elephantiasis nostras verrucosa (ENV) can occur in any area affected by lymphedema. Here we report two cases of ENV: one is a biopsy-proven case and the other is a clinically diagnosed case. Both occurred on the buttocks and sacrum of immobile, morbidly obese men who were persistently in the supine or seated position. Whereas classic ENV is not uncommon, this striking presentation on these unusual areas is quite rare.

A rare case of isolated macronodular hepatic tuberculosis (Tuberculous) in an immunocompetent patient.

PubMed

Kayar, Yusuf; Ekinci, Iskender; Turkdogan, Figen Tunali; Atay, Musa; Soytas, Rabia Bag; Kayar, Nuket Bayram

2015-11-01

Tuberculosis is one of the most common and well described infectious diseases, with a world wide distribution and a vast spectrum of clinical manifestations. There are three forms of hepatic tuberculosis. Diffuse hepatic involvement with pulmonary or miliary tuberculosis, diffuse hepatic infiltration without recognizable pulmonary involvement is the second form and the third very rare form presents as a focal/local tuberculoma or abscess. In this case report we describe an unusual appearance of macronodular tuberculomas of the liver.

Pseudomyopia in a patient with blocked ventriculo-peritoneal shunt--a case report.

PubMed

Voon, L W; Goh, K Y; Lim, T H; Tan, K K; Yong, V S

1997-03-01

Accommodative spasm usually encompasses a classical triad of pseudomyopia, esodeviation and pupillary constriction. Accommodative spasm is most often psychogenic in nature; however, it may be associated with other organic diseases of which a rare cause is that of intracranial catheter complications. We report a case of dorsal midbrain syndrome with pseudomyopia in a patient with a blocked ventriculo-peritoneal shunt inserted for aqueductal stenosis. Clinical presentation was unusual in this patient as pseudomyopia occurred with exodeviation and without pupillary constriction.

Surgical reconstruction in female genital mutilation

PubMed Central

Gültekin, İsmail Burak; Altınboğa, Orhan; Dur, Rıza; Kara, Osman Fadıl; Küçüközkan, Tuncay

2016-01-01

Female genital mutilation (FGM) is an unusual condition for our country. However, an increase in FGM in future days can be predicted with the increasing numbers of exchange students coming from African countries, migration of refugees and socioeconomic relations with the African countries. We want to share our experience of two FGM victims admitted to our clinic with the request of reconstructive vulvar surgery before their marriage. Both women had WHO Type III FGM. Physical examination findings and surgical reconstruction techniques were presented. PMID:27274899

An unusual clinical presentation of tinea faciei caused by Trichophyton mentagrophytes var. erinacei.

PubMed

Lee, Deok-Woo; Yang, Ji-Hye; Choi, Seok-Joo; Won, Chong-Hyun; Chang, Sung-Eun; Lee, Mi-Woo; Choi, Jee-Ho; Moon, Kee-Chan; Kim, Mi-Na

2011-01-01

Trichophyton mentagrophytes var. erinacei, the natural host of which is the hedgehog, has been found to cause highly inflammatory and pruritic eruptions, including tinea manuum, tinea corporis, nail infection, kerion, scalp infection, and tinea barbae. To our knowledge, however, no reports have been made of tinea faciei caused by Trichophyton mentagrophytes var. erinacei in the English language literature. We provide here the case of tinea faciei caused by Trichophyton mentagrophytes var. erinacei. © 2011 Wiley Periodicals, Inc.

An Unusual Consolidation: Lobar Pulmonary Hemorrhage Due to Antithrombotic Therapy.

PubMed

D'Amore, Katrina; Traficante, David; McGovern, Terrance; Propersi, Marco; Barnes, Stacey

2017-11-01

Alveolar hemorrhage is a rare yet devastating clinical entity if not identified and treated aggressively. Exceedingly rare are the cases of anticoagulant-induced alveolar hemorrhage with very few cases described in the current literature. The nonspecific presentation of an alveolar hemorrhage makes its diagnosis and appropriate treatment difficult in the emergency department. We report a case of a patient on warfarin for atrial fibrillation who was initially misdiagnosed as having community-acquired pneumonia, but subsequently was identified to have a fatal alveolar hemorrhage.

Hydrocephalus in a patient with an unruptured pial arteriovenous fistula: hydrodynamic considerations, endovascular treatment, and clinical course.

PubMed

Morales-Gómez, Jesús A; Garza-Oyervides, Vicente V; Arenas-Ruiz, José A; Mercado-Flores, Mariana; Elizondo-Riojas, C Guillermo; Boop, Frederick A; de León, Ángel Martínez-Ponce

2017-03-01

Intracranial pial arteriovenous fistulas, also known as nongalenic fistulas, are rare vascular malformations affecting predominantly the pediatric population. Hydrocephalus is an unusual presentation in which the exact pathophysiology is not fully understood. The aim of treatment in these cases is occlusion of the fistula prior to considering ventricular shunting. Here, the authors describe the hydrodynamic considerations of the paravascular pathway and the resolution of hydrocephalus with endovascular treatment of the fistula.

An incidental finding on a diagnostic CBCT: a case report.

PubMed

Lyros, Ioannis; Fora, Eleni; Damaskos, Spyridon; Stanko, Peter; Tsolakis, Apostolos

2014-05-01

It is known that Cone Beam Computed Tomography (CBCT) provides reliable spatial data and has many clinical applications for dental and particularly orthodontic patients. The present article provides a short review of the literature and reports an unusual CBCT finding in an orthodontic patient referred for the assessment of impacted upper canines. A unilateral lesion in the left maxillary sinus, was an incidental finding. Following a histological examination, which revealed unilateral nasal polyps, surgical removal was performed as the treatment of choice.

Enamel Pit Defects and Taurodontism in a Patient with Ring Chromosome 14 and 47,XXX.

PubMed

Townsend, Janice A; Lacour, Letitia; Scheuerle, Angela E

2017-01-15

The purpose of this paper is to describe the clinical findings and management of a case involving a patient with co-occurring ring chromosome 14 syndrome and 47,XXX presenting with enamel pit defects and taurodontism. Ring chromosome 14 syndrome is an unusual condition with uncontrolled seizure disorder as its most significant finding; 47,XXX (trisomy X; triple X) is a more common condition and has characteristic physical and behavioral findings. Neither condition has been associated with enamel pit defects.

An unusual case of lung abscess caused by Acremonium species treated with itraconazole.

PubMed

Qazi, M S; Bowalekar, S S; Wanjare, V S; Shankar, A

2015-01-01

We present a report of a 37-year-old female with lung abscess due to Acremonium species that responded to oral itraconazole. There was a marked clinical as well as radiological improvement in patient. To the best of our knowledge, this is the first case of lung abscess due to Acremonium species which was treated by oral itraconazole. This cost-effective treatment modality proved to be significant in improving symptoms as well as morbidity in this patient.

An unusual presentation of adult Wilms' tumor.

PubMed

Mydlo, J H; Horowitz, M; Del Rosario, C; Cosgrove, J; Macchia, R J

1996-01-01

Wilms' tumor (nephroblastoma), a primary renal neoplasm containing primitive blastema and embryonic glomerulotubular structures, is the most common malignant tumor of the urinary tract in children. There have been about 240 cases of adult Wilms' tumor reported in the world literature, however due to some differences in histologic findings, many cases have been reclassified as rhabdoid or clear cell sarcomas, both of which are recognized as separate entities. We report a case of an adult Wilms' tumor and discuss the clinical, radiographic and histologic features of this tumor.

Periodic botulinum toxin injections for paradoxical vocal fold motion in a child with cerebral palsy: a case study.

PubMed

Cheng, Yew Song; Bhutta, Mahmood F; Ramsden, James D; Lennox, Penny

2014-03-01

We describe an unusual case of paradoxical vocal fold motion in a child with cerebral palsy. Clinically, the child presented with mild stridor, which worsened over months, eventually requiring emergency intubation. After an unsuccessful trial of medical management, microlaryngoscopy revealed abnormal adduction of the vocal folds during inspiration. This was successfully treated with periodic type A botulinum toxin injections to the vocal folds, sparing the child from tracheostomy. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

Congenital syphilis: an unusual presentation.

PubMed

Dzebolo, N N

1980-08-01

Congenital syphilis was discovered in a neonate with the unusual radiographic presentation of unilateral involvement of three bones showing lytic lesions and periostitis. Congenital syphilis should be considered in a newborn infant with these radiographic manifestations, especially when a suggestive history is obtained.

Chronic Granulomatous Disease Presenting as Aspergillus Fumigatus Pneumonia in a Previously Healthy Young Woman

PubMed Central

Williams, David; Kadaria, Dipen; Sodhi, Amik; Fox, Roy; Williams, Glenn; Threlkeld, Stephen

2017-01-01

Patient: Female, 23 Final Diagnosis: Chronic granulomatous disease Symptoms: Fever • shortness of breath Medication: — Clinical Procedure: Bronchoscopy Specialty: Pulmonology Objective: Unusual clinical course Background: Chronic Granulomatous Disease (CGD) is a rare immunodeficiency disease caused by a genetic defect in the NADPH (nicotinamide adenine dinucleotide phosphate) oxidase enzyme, resulting in increased susceptibility to bacterial and fungal infections. The inheritance can be X-linked or autosomal recessive. Patients usually present with repeated infections early in life. We present an unusual case of a 23-year-old patient diagnosed with CGD. Case Report: A 23-year-old white woman with no previous history of recurrent infections presented with complaints of fever, shortness of breath, and diffuse myalgia. She had been treated twice for similar complaints recently, but without resolution. She was febrile, tachypneic, tachycardic, and hypoxic at presentation. Physical examination revealed diffuse inspiratory rales. Laboratory results showed leukocytosis. Her initial chest X-ray and CT chest showed reticular nodular interstitial lung disease pattern. Despite being on broad-spectrum antibiotics for 5 days, she continued to require supplemental oxygen and continued to be tachypneic, with minimal activity. Initial diagnostic tests, including bronchoscopy with biopsy and lavage, did not reveal a diagnosis. She then underwent a video-assisted thoracoscopic surgery (VATS) lung biopsy. The biopsy slides showed suppurative granulomatous inflammation affecting greater than 50% of the parenchymal lung surface. Fungal hyphae consistent with Aspergillus were present in those granulomas. A diagnosis of CGD was made and she was started on Voriconazole. She improved with treatment. Her neutrophil burst test showed negative burst on stimulation, indicating phagocytic dysfunction consistent with CGD. Autosomal recessive CGD was confirmed by genetic testing. Conclusions: CGD can present in adulthood without any previous symptoms and signs. Clinicians should consider this disease in patients presenting with recurrent or non-resolving infections. Timely treatment and prophylaxis has been shown to reduce serious infections as well as mortality in these patients. PMID:28377567

An unusual case of priapism.

PubMed Central

Jam, M.; Datta, N. S.; Askari, A.

1993-01-01

A case of sickle cell disease with 63 documented episodes of priapism that were managed medically is presented. The case is very unusual because of the fact that despite so many episodes of priapism, he did not lose sexual potency. On the contrary, over a period of time, his penis hypertrophied. To the best of our knowledge, this is the first such case with so many episodes of priapism reported in the English literature. We present a hypothesis for such unusual occurrence. PMID:8366540

Immunoglobulin G4-related disease: a rare disease with an unusual presentation.

PubMed

Khan, Muhammad Waqas; Hadley, Terrance; Kesler, Melissa; Gul, Zartash

2016-07-01

IgG4-RD can also present in the skeletal muscle, mimicking several other diseases. It is unusual for this relatively new classification of diseases to present in the muscles and can be mistakenly diagnosed as other autoimmune diseases rendering a delay in the appropriate management and progression of the disease.

Two anthrax cases with soft tissue infection, severe oedema and sepsis in Danish heroin users

PubMed Central

2013-01-01

Background Anthrax had become extremely rare in Europe, but in 2010 an outbreak of anthrax among heroin users in Scotland increased awareness of contaminated heroin as a source of anthrax. We present the first two Danish cases of injectional anthrax and discuss the clinical presentations, which included both typical and more unusual manifestations. Case presentations The first patient, a 55-year old man with HIV and hepatitis C virus co-infection, presented with severe pain in the right thigh and lower abdomen after injecting heroin into the right groin. Computed tomography and ultrasonographic examination of the abdomen and right thigh showed oedematous thickened peritoneum, distended oedematous mesentery and subcutaneous oedema of the right thigh. At admission the patient was afebrile but within 24 hours he progressed to severe septic shock and abdominal compartment syndrome. Cultures of blood and intraperitoneal fluid grew Bacillus anthracis. The patient was treated with meropenem, clindamycin, ciprofloxacin and metronidazole. Despite maximum supportive care including mechanical ventilation, vasopressor treatment and continuous veno-venous hemodiafiltration the patient died on day four. The second patient, a 39-year old man with chronic hepatitis C virus infection, presented with fever and a swollen right arm after injecting heroin into his right arm. The arm was swollen from the axilla to the wrist with tense and discoloured skin. He was initially septic with low blood pressure but responded to crystalloids. During the first week, swelling progressed and the patient developed massive generalised oedema with a weight gain of 40 kg. When blood cultures grew Bacillus anthracis antibiotic treatment was changed to meropenem, moxifloxacin and metronidazole, and on day 7 hydroxycloroquin was added. The patient responded to treatment and was discharged after 29 days. Conclusions These two heroin-associated anthrax cases from Denmark corroborate that heroin contaminated with anthrax spores may be a continuous source of injectional anthrax across Europe. Clinicians and clinical microbiologists need to stay vigilant and suspect anthrax in patients with a history of heroin use who present with soft tissue or generalised infection. Marked swelling of affected soft tissue or unusual intra-abdominal oedema should strengthen clinical suspicion. PMID:24004900

Clinical Manifestations of Senecavirus A Infection in Neonatal Pigs, Brazil, 2015

PubMed Central

Leme, Raquel A.; Oliveira, Thalita E.S.; Alcântara, Brígida K.; Headley, Selwyn A.; Alfieri, Alice F.; Yang, Ming

2016-01-01

We identified new clinical manifestations associated with Senecavirus A infection in neonatal piglets in Brazil in 2015. Immunohistochemical and molecular findings confirmed the association of Senecavirus A with these unusual clinical signs and more deaths. Other possible disease agents investigated were not associated with these illnesses. PMID:27315157

An unusual percutaneous transmitral commissurotomy: A collection of four rare occurrences!

PubMed

Shankarappa, Ravindranath K; Agrawal, Navin; Patra, Soumya; Karur, Satish; Nanjappa, Manjunath C

2013-09-01

We are presenting an interesting case of a 30-year-old patient taken for percutaneous transvenous mitral commissurotomy (PTMC) for severe rheumatic mitral stenosis in which there was a collection of four unusual occurrences during the course of a procedure. She had recurrent generalized tonic-clonic seizures immediately after femoral sheath insertion requiring the patient to be mechanically ventilated. Subsequently, the pressure tracings recorded with catheters in the aorta and the pulmonary artery showed transient unusually high supra-systemic pulmonary artery pressure. During inflation the Accura PTMC balloon which was used to dilate the mitral valve ruptured and the procedure subsequently had to be completed using another balloon catheter. During the procedure the presence of a distended stomach due to insufflations of air during positive pressure ventilation which subsided subsequently was another unusual documentation on fluoroscopy. The final outcome of the procedure was successful. This case presents an interesting collection of unusual occurrences during a PTMC procedure which started on an unusual note but ended on a successful one. Careful assessment and appropriate management of complications can lead to successful outcome of procedures as in our case.

Atypical progression of multiple myeloma with extensive extramedullary disease.

PubMed Central

Jowitt, S N; Jacobs, A; Batman, P A; Sapherson, D A

1994-01-01

Multiple myeloma is a neoplastic disorder caused by the proliferation of a transformed B lymphoid progenitor cell that gives rise to a clone of immunoglobulin-secreting cells. Other plasma cell tumours include solitary plasmacytoma of bone (SPB) and extramedullary plasmacytomas (EMP). Despite an apparent common origin there exist pathological and clinical differences between these neoplasms and the association between them is not completely understood. A case of IgG multiple myeloma that presented with typical clinical and laboratory features, including a bone marrow infiltrated by well differentiated plasma cells, is reported. The tumour had an unusual evolution, with the development of extensive extramedullary disease while maintaining mature histological features. Images PMID:8163701

Meningoencephalitis Due to Listeria monocytogenes in a Pregnant Rhesus Macaque (Macaca mulatta)

PubMed Central

Lemoy, Marie-Josee MF; Lopes, Danielle A; Reader, J Rachel; Westworth, Diccon R; Tarara, Ross P

2012-01-01

We here report a spontaneous case of meningoencephalitis due to Listeria monocytogenes in an adult primiparous rhesus macaque (Macaca mulatta) during an outbreak of listeriosis in an outdoor enclosure. Clinical signs included tremors, abnormal posture, and altered mental status. Hematology and analyses of cerebrospinal fluid were consistent with bacterial infection. Pure cultures of L. monocytogenes were recovered from the placenta–abortus, cerebrospinal fluid, and brain tissue. The macaque did not respond to treatment and was euthanized. Histopathologic examination of the brain revealed acute meningoencephalitis. This case represents an unusual clinical and pathologic presentation of listeriosis in a nonhuman primate in which the dam and fetus both were affected. PMID:23114049

Presentaciones poco comunes y peligros de la sífilis secundaria: periosteitis, tenosinovitis y anomalías hepáticas.

PubMed

Rosa-Gonçalves, Diana; Bernardes, Miguel; Costa, Lúcia

2017-06-02

We herein describe two cases of secondary syphilis in patients with human immunodeficiency virus (HIV) infection with an unusual presentation, a diffuse polyostotic periosteitis. Patients referred mainly intense bone pain. Other relevant aspects of the clinical pictures were flexor tenosynovitis and hepatic abnormalities. Given the persistence of symptoms, the treatment duration performed was different from most described in literature. However, although more slowly than expected, both obtained a favorable clinical response after treatment with benzathine penicillin G. Copyright © 2017 Elsevier España, S.L.U. and Sociedad Española de Reumatología y Colegio Mexicano de Reumatología. All rights reserved.

Serial magnetic resonance imaging findings in subarachnoid hemorrhage due to an initially angiographically occult type II spinal aneurysm: Case report.

PubMed

Kogan, Michael; Morr, Simon; Siddiqui, Adnan H

2017-04-28

Spinal aneurysms are rare causes of spontaneous subarachnoid hemorrhage. We present an unusual, initially occult, case of an upper thoracic intradural extramedullary isolated aneurysm arising from the T2 intercostal-radicular circulation that was initially angiographically occult but was discovered due to unique, albeit nonspecific, magnetic resonance imaging findings of spinal cord T2 hyperintensity and contrast enhancement that were noted to progress with a clinical picture of ictal rehemorrhage. Repeat spinal angiography revealed a spinal aneurysm that was treated surgically. In cases of sufficient clinical suspicion and nonspecific imaging findings, continued vigilance is advised in seeking an underlying pathoanatomic etiology.

Primary sporadic Burkitt lymphoma of the orbit, clinical characteristics, management, and outcomes: a case study.

PubMed

Bouali, Sofiene; Said, Imed Ben; Yedeas, Mohamed Dahmani; Abderrahmen, Khansa; Maatar, Nidhal; Boubaker, Adnen; Kallel, Jalel; Jemel, Hafedh

2016-03-01

Involvement of the orbit with Burkitt's lymphoma is a very rare presentation of extra-nodal lymphoma. We report a case of a 2-year-old female presented an unusual location of sporadic Burkitt's lymphoma arising in the orbital region. Diagnostic magnetic resonance imagining identified an oval-shaped mass on the lateral rectus of the right orbit that caused dislocation of eyeball, for which she underwent a biopsy from the periorbital swellings. The mass was histologically confirmed as Burkitt's lymphoma, and postoperative aggressive chemotherapy was initiated. We describe clinical diagnosis, histological aspects, radiological features, and current management of this rapidly growing malignant tumor. Because of the rapid progression of Burkitt lymphoma, and considering that it responds well to treatment, early recognition and appropriate management are important factors for survival and to preserve visual function.

A Case of Neuro-Behcet’s Disease Presenting with Central Neurogenic Hyperventilation

PubMed Central

Alkhachroum, Ayham M.; Saeed, Saba; Kaur, Jaspreet; Shams, Tanzila; De Georgia, Michael A.

2016-01-01

Patient: Female, 46 Final Diagnosis: Central hyperventilation Symptoms: Hyperventilation Medication: — Clinical Procedure: None Specialty: Neurology Objective: Unusual clinical course Background: Behcet’s disease is a chronic inflammatory disorder usually characterized by the triad of oral ulcers, genital ulcers, and uveitis. Central to the pathogenesis of Behcet’s disease is an autoimmune vasculitis. Neurological involvement, so called “Neuro-Behcet’s disease”, occurs in 10–20% of patients, usually from a meningoencephalitis or venous thrombosis. Case Report: We report the case of a 46-year-old patient with Neuro-Behcet’s disease who presented with central neurogenic hyperventilation as a result of brainstem involvement from venulitis. Conclusions: To the best of our knowledge, central neurogenic hyperventilation has not previously been described in a patient with Neuro-Behcet’s disease. PMID:26965646

Childhood and Current Autistic Features in Adolescents with Schizotypal Personality Disorder

PubMed Central

Esterberg, Michelle L.; Trotman, Hanan D.; Brasfield, Joy L.; Compton, Michael T.; Walker, Elaine F.

2008-01-01

The diagnostic boundaries between autistic- and schizophrenia-spectrum disorders have varied over the years, and some overlap in diagnostic criteria persists. The present study examined childhood and current signs of autistic disorder (AD) in adolescents with schizotypal personality disorder (SPD) or other personality disorders, as well as healthy controls. A structured interview was administered to rate participants’ current symptoms. Participants’ guardians were interviewed with the Autism Diagnostic Inventory-Revised (ADI-R), a clinical assessment of childhood and current autistic signs. Compared to both the other personality-disordered and healthy groups, adolescents with SPD were rated as having significantly more impairment on childhood and current social functioning, and having more unusual interests and behaviors. For the entire sample, impaired childhood social functioning and unusual interests and behaviors were associated with higher negative symptom scores. Current impairments in social functioning, unusual interests and behaviors, and communication were also linked with greater negative symptoms. However, neither childhood nor current autistic features significantly predicted later conversion to an Axis I psychotic disorder over the course of three years of follow-up. The findings indicate that past and current autistic signs are more common in adolescents with SPD, but neither current nor childhood autistic features are linked with conversion to psychosis. PMID:18554872

Unusual X-chromosome inactivation pattern in patients with Xp11.23-p11.22 duplication: Report and review.

PubMed

Di-Battista, Adriana; Meloni, Vera Ayres; da Silva, Magnus Dias; Moysés-Oliveira, Mariana; Melaragno, Maria Isabel

2016-12-01

In females carrying structural rearrangements of an X-chromosome, cells with the best dosage balance are preferentially selected, frequently resulting in a skewed inactivation pattern and amelioration of the phenotype. The Xp11.23-p11.22 region is involved in a recently described microduplication syndrome associated with severe clinical consequences in males and females, causing intellectual disability, behavior problems, epilepsy with electroencephalogram anomalies, minor facial anomalies, and early onset of puberty. Female carriers usually present an unusual X-chromosome inactivation pattern in favor of the aberrant chromosome, resulting in functional disomy of the duplicated segment. Here, we describe a girl carrying a de novo ∼9.7 Mb Xp11.3-p11.22 duplication of paternal origin and skewed X-chromosome inactivation pattern of the normal X-chromosome. We reviewed other cases previously reported and determined the minimal critical region possibly responsible for this unusual inactivation pattern. The critical region encompasses 36 RefSeq genes, including at least 10 oncogenes and/or genes related to the cell cycle control. We discuss the molecular mechanisms that underlie the positive selection of the cells with the active duplicated chromosome. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

Clinical commentary on "Paroxysmal kinesigenic dyskinesia-like phenotype in multiple sclerosis" and "Secondary paroxysmal dyskinesia in multiple sclerosis: Clinical-radiological features and treatment. Case report of seven patients".

PubMed

Pareés, Isabel

2017-11-01

This clinical commentary discusses the phenomenology and treatment of paroxysmal dyskinesia in patients with multiple sclerosis. It calls for a consensus on the definition as well as for larger studies to better understand this unusual clinical association.

Inflammatory nasal polyps: an unusual late complication of Silastic sheet repair of orbital floor fracture.

PubMed

Andrews, A E; Hicklin, L

2006-02-01

Silastic implants are very widely used in surgical practice and are considered to be relatively inert. They do however present with complications, including infection, local foreign body inflammatory response,calcification, migration and failure of repair of the defect, which sometimes may necessitate explantation. Head and neck implants do present a special case, as complications can cause obstruction and disruption of function in small cavities. A pertinent history, clinical review and computed tomography scan are usually invaluable in obtaining a diagnosis. We present a rare case of migrated Silastic orbital sheet, presenting as a nasal polyp and causing maxillary antral pain and infection. A detailed search of the medical literature revealed no other such case.

Tinea pedis presenting as asymmetric purpuric papules on the sole of the foot: a case report.

PubMed

Chen, Jennifer Yan Fei; Stroz, Marianne J; Adam, David N

2015-01-01

In this report we describe a unique case of tinea pedis. A 29-year-old man presented with a 3-day history of asymptomatic purpuric papules predominantly on his left foot. Potassium hydroxide preparation demonstrated fungal hyphae and culture yielded Trichophyton mentagrophytes. This patient presented unusually with purpuric papules, unlike the three commonly described types of tinea pedis. Given the morphology, positive potassium hydroxide slide preparation, T. mentagrophytes on fungal culture and clinical response to ketoconazole cream, we conclude that this represents a unique variant of tinea pedis. We recognize that even common dermatological diagnoses can have unique presentations, and it is important for clinicians to maintain a broad differential for new dermatologic cases.

Tinea Pedis Presenting as Asymmetric Purpuric Papules on the Sole of the Foot: A Case Report

PubMed Central

Chen, Jennifer Yan Fei; Stroz, Marianne J.; Adam, David N.

2015-01-01

In this report we describe a unique case of tinea pedis. A 29-year-old man presented with a 3-day history of asymptomatic purpuric papules predominantly on his left foot. Potassium hydroxide preparation demonstrated fungal hyphae and culture yielded Trichophyton mentagrophytes. This patient presented unusually with purpuric papules, unlike the three commonly described types of tinea pedis. Given the morphology, positive potassium hydroxide slide preparation, T. mentagrophytes on fungal culture and clinical response to ketoconazole cream, we conclude that this represents a unique variant of tinea pedis. We recognize that even common dermatological diagnoses can have unique presentations, and it is important for clinicians to maintain a broad differential for new dermatologic cases. PMID:25873874

Heavy and Light chain amyloidosois presenting as complete heart block: A rare presentation of a rare disease.

PubMed

Priyamvada, P S; Morkhandikar, S; Srinivas, B H; Parameswaran, S

2015-01-01

Amyloidosis is an uncommon disease characterized by deposition of proteinaceous material in the extracellular matrix, which results from abnormal protein folding. Even though more than 25 precursor proteins are identified, majority of systemic amyloidosis results from deposition of abnormal immunoglobulin (Ig) light chains. In heavy chain amyloidosis (AH), deposits are derived from both heavy chain alone, whereas in heavy and light chain amyloidosis (AHL), the deposits are derived from Ig heavy chains and light chains. Both AH and AHL are extremely rare diseases. Here, we report an unusual presentation of IgG (lambda) AHL amyloidosis in the background of multiple myeloma, where the initial clinical presentation was complete heart block, which preceded the definitive diagnosis by 18 months.

Response of the Pre-Oriented Goal-Directed Attention to Usual and Unusual Distractors: A Preliminary Study

PubMed Central

Baghdadi, Golnaz; Towhidkhah, Farzad; Rostami, Reza; Raza, Mohsen

2017-01-01

Introduction: In this study, we investigated the distraction power of the unusual and usual images on the attention of 20 healthy primary school children. Methods: Our study was different from previous ones in that the participants were asked to fix the initial position of their attention on a predefined location after being presented with unusual images as distractors. The goals were presented in locations, which were far from the attraction basin of distractors. We expected that the pre-orienting of the attention to the position of targets would reduce the attractive effect of unusual images compared to the usual ones. The percentage of correct responses and the reaction time were measured as behavioral indicators of attention performance. Results: Results showed that using the goal-directed attention, subjects ignored both kinds of distractors nearly the same way. Conclusion: With regard to previous reports about more attraction towards the unusual images, it is suggested that the dynamics of the visual attention system be sensitive to the initial condition. That is, changing the initial position of the attention can lead to the decrement of the unusual images effects. However, several other possibilities such as a probable delay in processing unusual features could explain this observation, too. PMID:28540000

TH-B-BRC-00: How to Identify and Resolve Potential Clinical Errors Before They Impact Patients Treatment: Lessons Learned

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

NONE

2016-06-15

Radiation treatment consists of a chain of events influenced by the quality of machine operation, beam data commissioning, machine calibration, patient specific data, simulation, treatment planning, imaging and treatment delivery. There is always a chance that the clinical medical physicist may make or fail to detect an error in one of the events that may impact on the patient’s treatment. In the clinical scenario, errors may be systematic and, without peer review, may have a low detectability because they are not part of routine QA procedures. During treatment, there might be errors on machine that needs attention. External reviews ofmore » some of the treatment delivery components by independent reviewers, like IROC, can detect errors, but may not be timely. The goal of this session is to help junior clinical physicists identify potential errors as well as the approach of quality assurance to perform a root cause analysis to find and eliminate an error and to continually monitor for errors. A compilation of potential errors will be presented by examples of the thought process required to spot the error and determine the root cause. Examples may include unusual machine operation, erratic electrometer reading, consistent lower electron output, variation in photon output, body parts inadvertently left in beam, unusual treatment plan, poor normalization, hot spots etc. Awareness of the possibility and detection of error in any link of the treatment process chain will help improve the safe and accurate delivery of radiation to patients. Four experts will discuss how to identify errors in four areas of clinical treatment. D. Followill, NIH grant CA 180803.« less

TH-B-BRC-01: How to Identify and Resolve Potential Clinical Errors

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

Das, I.

2016-06-15

Radiation treatment consists of a chain of events influenced by the quality of machine operation, beam data commissioning, machine calibration, patient specific data, simulation, treatment planning, imaging and treatment delivery. There is always a chance that the clinical medical physicist may make or fail to detect an error in one of the events that may impact on the patient’s treatment. In the clinical scenario, errors may be systematic and, without peer review, may have a low detectability because they are not part of routine QA procedures. During treatment, there might be errors on machine that needs attention. External reviews ofmore » some of the treatment delivery components by independent reviewers, like IROC, can detect errors, but may not be timely. The goal of this session is to help junior clinical physicists identify potential errors as well as the approach of quality assurance to perform a root cause analysis to find and eliminate an error and to continually monitor for errors. A compilation of potential errors will be presented by examples of the thought process required to spot the error and determine the root cause. Examples may include unusual machine operation, erratic electrometer reading, consistent lower electron output, variation in photon output, body parts inadvertently left in beam, unusual treatment plan, poor normalization, hot spots etc. Awareness of the possibility and detection of error in any link of the treatment process chain will help improve the safe and accurate delivery of radiation to patients. Four experts will discuss how to identify errors in four areas of clinical treatment. D. Followill, NIH grant CA 180803.« less

Clinical Forms of Chikungunya in Gabon, 2010

PubMed Central

Caron, Mélanie; Grard, Gilda; Mombo, Illich; Bikié, Branly; Paupy, Christophe; Becquart, Pierre; Bisvigou, Ulrich; Leroy, Eric Maurice

2012-01-01

Background Chikungunya virus (CHIKV) has caused multiple outbreaks in tropical and temperate areas worldwide, but the clinical and biological features of this disease are poorly described, particularly in Africa. We report a prospective study of clinical and biological features during an outbreak that occurred in Franceville, Gabon in 2010. Methodology/Principal Findings We collected, in suspect cases (individuals presenting with at least one of the following symptoms or signs: fever, arthralgias, myalgias, headaches, rash, fatigue, nausea, vomiting, diarrhea, bleeding, or jaundice), blood samples, demographic and clinical characteristics and outcome. Hematological and biochemical tests, blood smears for malaria parasites and quantitative PCR for CHIKV then dengue virus were performed. CHIKV+ patients with concomitant malaria and/or dengue were excluded from the study. From May to July 2010, data on 270 laboratory-confirmed CHIK patients were recorded. Fever and arthralgias were reported by respectively 85% and 90% of patients, while myalgias, rash and hemorrhage were noted in 73%, 42% and 2% of patients. The patients were grouped into 4 clinical categories depending on the existence of fever and/or joint pain. On this basis, mixed forms accounted for 78.5% of cases, arthralgic forms 12.6%, febrile forms 6.7% and unusual forms (without fever and arthralgias) 2.2%. No cases of organ failure or death were reported. Elevated liver enzyme and creatinine levels, anemia and lymphocytopenia were the predominant biological abnormalities, and lymphocytopenia was more severe in patients with high viral loads (p = 0.01). Conclusions/Significance During CHIK epidemics, some patients may not have classical symptoms. The existence of unusual forms and the absence of severe forms of CHIK call for surveillance to detect any change in pathogenicity. PMID:22348166

[Mitochondrial leukoencephalopathy of infancy: is it an early expression of Leigh syndrome?].

PubMed

Rouco Axpe, I; Garaizar Axpe, C; Labairu Echevarría, M; Sanjurjo Crespo, P; Aldamiz Echevarría, L; Prats Viñas, J M

2003-06-01

Leigh syndrome is probably the most frequent metabolic disorder in infancy and childhood. The classic form of the disease is characterized by bilateral lesions of basal ganglia and brainstem. The extensive involvement of white matter, without radiological basal ganglia abnormalities, is an unusual manifestation of the disease. Four patients who presented the disease during the first year of life are described. The four patients presented a stereotyped clinical picture, consisting of regression of already acquired psychomotor abilities and very prominent pyramidal signs. These clinical manifestations and results of neuroimaging studies suggested a primary leukodystrophy. Increased values of lactic and piruvic acids suggested a mitochondrial disorder. Enzymatic studies confirmed a mitochondrial respiratory chain deficiency in two patients, and a pyruvate dehydrogenase complex defect in the remaining two patients. The pathological findings in the latter two sisters were consistent with the characteristic microscopic lesions of Leigh syndrome, but with atypical distribution. Diagnosis of Leigh syndrome must be taken into consideration in infants presenting with a leukodystrophic clinical and radiological pattern, despite the lack of basal ganglia involvement.

A multi-data source surveillance system to detect a bioterrorism attack during the G8 Summit in Scotland.

PubMed

Meyer, N; McMenamin, J; Robertson, C; Donaghy, M; Allardice, G; Cooper, D

2008-07-01

In 18 weeks, Health Protection Scotland (HPS) deployed a syndromic surveillance system to early-detect natural or intentional disease outbreaks during the G8 Summit 2005 at Gleneagles, Scotland. The system integrated clinical and non-clinical datasets. Clinical datasets included Accident & Emergency (A&E) syndromes, and General Practice (GPs) codes grouped into syndromes. Non-clinical data included telephone calls to a nurse helpline, laboratory test orders, and hotel staff absenteeism. A cumulative sum-based detection algorithm and a log-linear regression model identified signals in the data. The system had a fax-based track for real-time identification of unusual presentations. Ninety-five signals were triggered by the detection algorithms and four forms were faxed to HPS. Thirteen signals were investigated. The system successfully complemented a traditional surveillance system in identifying a small cluster of gastroenteritis among the police force and triggered interventions to prevent further cases.

Pink-pigmented non-fermentative gram-negative rods associated with human infections: a clinical and diagnostic challenge.

PubMed

Hogue, R; Graves, M; Moler, S; Janda, J M

2007-06-01

Over the past several decades, the appearance of pink-pigmented bacteria in clinical specimens has gone from being a microbiologic curiosity in the clinical laboratory to the recognition of these aerobic microorganisms as etiologic agents of human disease, most notably bloodstream infections. Advances in the fields of molecular taxonomy and phylogenetics indicate that at least four distinct genera and eight different species are associated with clinical infections in susceptible patient populations. However, these bacteria are slow growing and present multiple diagnostic challenges to the microbiology laboratory including culture, isolation, and identification to species rank. This article provides a current review of these unusual non-fermentative chromogenic bacteria including their disease spectrum, taxonomy, and laboratory identification. The review also highlights the pitfalls or shortcomings we currently have in our knowledge of these microbes and their disease-producing capabilities.

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.

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.

Pigmented well-differentiated hepatocellular neoplasm with beta-catenin mutation.

PubMed

Souza, Lara Neves; de Martino, Rodrigo Bronze; Thompson, Richard; Strautnieks, Sandra; Heaton, Nigel D; Quaglia, Alberto

2015-12-01

According to the most recent WHO classification of hepatocellular adenomas, a small percentage of inflammatory hepatocellular adenomas presents with mutation in the beta-catenin gene and are at higher risk of malignant transformation. It has been recognized that adenoma-like hepatocellular neoplasms with focal atypia, or in unusual clinical context present with similar cytogenetic and immunohistochemistry characteristics to well-differentiated hepatocellular carcinomas. We report a case of a well-differentiated hepatocellular neoplasm with Dubin-Johnson-like pigment displaying histological features overlapping with a beta-catenin mutated inflammatory adenoma and a well-differentiated hepatocellular carcinoma in a non-cirrhotic liver. The patient was a 48-year-old woman, who was asymptomatic, and had a clinical history of intra-uterine exposure to diethylstilbestrol, previous cancers and past oral contraceptive use. The recently proposed term "well-differentiated hepatocellular neoplasm of uncertain malignant potential" should be applied in such cases to highlight the different pathogenesis and risk of malignancy compared to the typical adenomas, and to suggest a careful and customized clinical management.

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.

Severe impulsiveness as the primary manifestation of multiple sclerosis in a young female.

PubMed

Lopez-Meza, Elmer; Corona-Vazquez, Teresa; Ruano-Calderon, Luis A; Ramirez-Bermudez, Jesus

2005-12-01

Severe impulsiveness in the absence of apparent neurological signs has rarely been reported as a clinical presentation of multiple sclerosis (MS). An 11-year-old female developed progressive and sustained personality disturbances including disinhibition, hypersexuality, drug abuse, aggressiveness and suicide attempts, without neurological signs. She was given several unsuccessful psychopharmacological and psychotherapeutic interventions. At age 21, a diagnosis of MS was made, confirmed by imaging, laboratory and neurophysiological studies. Although unusual, MS may produce pure neurobehavioral disturbances. In the present case, widespread demyelinization produced a complex behavioral disorder, with features compatible with orbitofrontal and Klüver-Bucy syndromes.

Adult pulmonary blastoma: Report of an unusual malignant lung tumor

PubMed Central

Magistrelli, Prospero; D’Ambra, Luigi; Berti, Stefano; Bonfante, Pierfrancesco; Francone, Elisa; Vigani, Antonella; Falco, Emilio

2014-01-01

Pulmonary blastoma is an uncommon lung malignancy, usually presenting itself as a large chest mass causing pain, hemoptysis, cough and dyspnea; however, it is asymptomatic in up to 40% of patients. We present the case and suggestive images of a 37-year-old non-smoking lady with a monophasic pulmonary blastoma located in the lower lobe of the left lung who underwent a left posterolateral thoracotomy with lower lobectomy, hilar and mediastinal node dissection, followed by chemo and radiation therapy. After 36 mo, there is no disease progression and the patient is in good health, clinically stable and without significant chest pain. PMID:25493248

Scaly scalp associated with crusted scabies: case series.

PubMed

Anbar, T S; El-Domyati, M B; Mansour, H A; Ahmad, H M

2007-07-13

The diagnosis of crusted scabies is becoming more relevant due to the increase in number of immunocompromised patients. To date, more than 200 cases have been reported in the literature. However, crusted scabies seems to be under-diagnosed because of its unusual presentations. In this case series we present history, clinical manifestations, KOH smear, and histopathological findings of a series of four patients with crusted scabies. Scaly scalp was a prominent feature of the disease in all cases. Examination of and treatment of the scalp of patients with suspected crusted scabies should not be neglected. A KOH smear from the scalp offers a simple and reliable technique for diagnosis.

Epithelioid Haemangioendothelioma (EHE) of the Liver.

PubMed

Khan, Abidullah; Humayun, Mohammad; Haider, Iqbal; Khan, Wazir Muhammad; Ajmal, Fahad; Ayub, Maimoona

2016-06-01

A45-year previously known hypertensive lady presented with 2-year history of upper abdominal pain, heaviness, and weight loss. Her radiological assessment suggested the possibility of hepatoma or liver metastases. Considering her age, overall good health and absence of cirrhosis, a liver biopsy was taken which showed hepatic epithelioidhaemangioendothelioma (HEHE), a rare and unusual intermediate grade vascular tumor which can easily be confused with hepatoma or metastatic liver disease. To the best of their knowledge, the authors are most probably reporting the first ever case of HEHE from Pakistan with special emphasis on its clinical presentations, clinico-radiological diagnostic clues, and the management options in the light of the limited retrospective studies.

Trauma: An Unusual Cause of Endocarditis.

PubMed

Braga, Ana; Marques, Marta; Abecacis, Miguel; Neves, José Pedro

2017-01-01

Infective endocarditis (IE) remains a dangerous condition with considerable associated mortality. Usual risk factors for IE include the presence of a prosthetic heart valve, structural or congenital heart disease, intravenous drug use, and a recent history of invasive procedures. The authors describe the case report of a patient with IE having trauma as an unusual risk factor. A 33-year old male patient was referred to our department due to infective endocarditis. The patient had a fever of unknown origin for 15 days before going to the emergency department. After admission it was identified by transthoracic echocardiography a 14mm posterior abscess of the aortic valve provoking major aortic regurgitation with moderate LV dysfunction. After careful evaluation of the clinical history it was found that the patient had a known bicuspid aortic valve with follow-up since the age of 14. All other usual risk factors for IE were excluded, including intravenous drug use and recent history of invasive procedures. The only relevant previous event was a traumatic haemathoma in his left jaw caused by a working accident with an iron beam in a construction site as the patient is a civil engineer. Vancomycin plus gentamicin were empirically started after blood cultures taken. The isolated infective agent was Staphylococcus lugdunensis methicillin sensitive and the antibiotherapy was de-escalated to flucloxacilin plus gentamicin. Due to cardiac dysfunction the patient was submitted to cardiac surgery on the fourth day of directed antibiotic therapy and a replacement of the aortic valve by a mechanical prosthetic valve and closure of the abscess with bovine pericardial patch was performed. The valve sent to microbiology evaluation showed the same infective provocative agent. The patient had a good clinical and laboratorial recovery completing the 42-day antibiotic scheme. After antibiotherapy period completion, echocardiography was repeated and the abscess found was larger then the previous one, presenting itself like an aortic pseudo aneurysm. The patient was resubmitted to surgery with re-closure of the initial abscess with autologous pericardial patch and replacement of the prosthetic mechanical valve for an undersized one. The patient was discharger clinically well, having a complete normal life at the moment. This clinical case illustrates trauma as an unusual cause of endocarditis and emphasizes the importance of a detailed clinical history.

[Pyelonephritis with massive renal tissue necrosis in child with urinary tract malformation--a case report].

PubMed

Pawlak-Bratkowska, Monika; Finke, Daria; Olejniczak, Dariusz; Midel, Anna; Tkaczyk, Marcin

2009-04-01

The aim of the case report is presentation of unusual and heavy clinical course of pyelonephritis with renal tissue necrosis in a child with urinary tract malformation. Nine month old girl was admitted to hospital in heavy clinical status due to pyelonephritis--urosepsis. It was complicated by acute renal insufficiency. Patient was treated by broad-spectrum antibiotics and parenteral nutrition. She was feverish for 14 days. Computed tomography done in order to exclude abdominal abscess showed massive renal tissue necrosis of on both sides. Antibiotic treatment was successful after 6 weeks. Urological evaluation revealed bilateral vesico-ureteral refluxes grade IV. Scintigraphy showed multiple scars. Patient was treated Deflux injections (twice). We noted 5 urinary tract recurrences despite antibiotic profilaxis. GFR of 75 ml/min/1.73 m2 was estimated at age of 16 m. Immunodeficiency or malignancy as background of clinical course were excluded. The case we describe presents severe clinical course of pyelonephritis due to complex urinary tract malformation that is to be considered despite based on modern publications "sparing" strategies of diagnosis and profilaxis in urinary tract malformations.

Two anthrax cases with soft tissue infection, severe oedema and sepsis in Danish heroin users.

PubMed

Russell, Lene; Pedersen, Michael; Jensen, Andreas V; Søes, Lillian Marie; Hansen, Ann-Brit Eg

2013-09-03

Anthrax had become extremely rare in Europe, but in 2010 an outbreak of anthrax among heroin users in Scotland increased awareness of contaminated heroin as a source of anthrax. We present the first two Danish cases of injectional anthrax and discuss the clinical presentations, which included both typical and more unusual manifestations. The first patient, a 55-year old man with HIV and hepatitis C virus co-infection, presented with severe pain in the right thigh and lower abdomen after injecting heroin into the right groin. Computed tomography and ultrasonographic examination of the abdomen and right thigh showed oedematous thickened peritoneum, distended oedematous mesentery and subcutaneous oedema of the right thigh. At admission the patient was afebrile but within 24 hours he progressed to severe septic shock and abdominal compartment syndrome. Cultures of blood and intraperitoneal fluid grew Bacillus anthracis. The patient was treated with meropenem, clindamycin, ciprofloxacin and metronidazole. Despite maximum supportive care including mechanical ventilation, vasopressor treatment and continuous veno-venous hemodiafiltration the patient died on day four.The second patient, a 39-year old man with chronic hepatitis C virus infection, presented with fever and a swollen right arm after injecting heroin into his right arm. The arm was swollen from the axilla to the wrist with tense and discoloured skin. He was initially septic with low blood pressure but responded to crystalloids. During the first week, swelling progressed and the patient developed massive generalised oedema with a weight gain of 40 kg. When blood cultures grew Bacillus anthracis antibiotic treatment was changed to meropenem, moxifloxacin and metronidazole, and on day 7 hydroxycloroquin was added. The patient responded to treatment and was discharged after 29 days. These two heroin-associated anthrax cases from Denmark corroborate that heroin contaminated with anthrax spores may be a continuous source of injectional anthrax across Europe. Clinicians and clinical microbiologists need to stay vigilant and suspect anthrax in patients with a history of heroin use who present with soft tissue or generalised infection. Marked swelling of affected soft tissue or unusual intra-abdominal oedema should strengthen clinical suspicion.

Hepatocellular carcinoma with both fibrolamellar and classical components: an unusual morphological pattern.

PubMed

Castro-Villabón, Diana; Barrera-Herrera, Luis E; Rodríguez-Urrego, Paula A; Hudacko, Rachel; Vera, Alonso; Álvarez, Johanna; Andrade, Rafael; López, Rocío

2015-01-01

Fibrolamellar carcinoma (FLC) is an uncommon form of primary liver malignancy with unique clinical, histological, and biological characteristics. It is usually seen in young adults without underlying liver disease. Histologically, it shows large cells with abundant eosinophilic cytoplasm, large vesicular nuclei, prominent nucleoli, and lamellar type fibrosis. In contrast, classical hepatocellular carcinoma (HCC) is typically present in elderly male patients with cirrhosis. It is the most common histological subtype, and it is characterized by its resemblance to the normal liver, both in its growth pattern and its cytology. The unusual case of a liver carcinoma that presented with histological features of both FLC and classical HCC is herein reported. This was the case of a 37-year-old female complaining of diffuse abdominal discomfort and epigastric pain for two months. She was referred to us for further management after she was diagnosed with HCC in a noncirrhotic liver. She underwent a left-sided hepatectomy. A yellow nodular mass with well-defined borders and a necrotic center was present in the resection specimen. The morphological features and immunohistochemical studies were consistent with a diagnosis of FLC mixed with classical HCC. The patient was followed up for five months, and no signs of recurrence were evident.

Case Reports of Five Cancer Patients with Unusual Course.

PubMed

Payrhuber, Dietmar; Thieves, Karin; Sangaletti, Piero; Muehlmann, Josef; Frass, Michael

2018-06-16

 The analysis of the periodic table of elements by Jan Scholten opened the way for a new kind of classification and repertorisation of homeopathic remedies. Thereby, group analysis (resorting to series and stages) makes precise prescriptions possible. This approach appears to yield striking results, even in severe cases. Whereas Hahnemann stressed the emotional state ('Gemüthssymptome', Organon § 210) when choosing a remedy, Scholten 200 years later investigated the mental picture that represents a life conflict or even a life theme that may maintain the disease process. The person's environment, emotional traumas or a conflict drives him or her to suppress and dissect painful emotions. Such compensations can become subconscious and so strong that they can no longer be controlled; they then influence the patient with a highly destructive energy.  We present five case reports, each dealing with an unusual clinical course of severe cancer associated with homeopathic treatment using the Scholten method.  By presenting these cases, we consider how the constitution (lifelong signs and symptoms of the patient) and the mental state are interwoven and, as a complex mechanism, might provoke disease.  The appropriate homeopathic remedy, reflecting the Scholten approach, seemed to have beneficial impact on the disease process of the five individuals presented. The Faculty of Homeopathy.

Lightning induced inappropriate ICD shock: an unusual case of electromagnetic interference.

PubMed

Anderson, Daniel R; Gillberg, Jeffrey M; Torrey, Jeffrey W; Koneru, Jayanthi N

2012-06-01

An unusual case of electromagnetic interference is presented. As a result of a lightning shock to a Shower House, our patient received two shocks. An elucidation of the different mechanisms for the two shocks is presented. ©2010, The Authors. Journal compilation ©2012 Wiley Periodicals, Inc.

An unusual presentation of an unusual complication of infectious mononucleosis: haematemesis and melaena.

PubMed

Koay, C B; Norval, C

1995-04-01

Tonsillar haemorrhage is a rare complication of infectious mononucleosis. We present a case of life-threatening tonsillar haemorrhage secondary to infectious mononucleosis in a young man whose predominant symptoms at presentation were haematemesis and melaena. The origin of the haemorrhage was not obvious until the patient was examined under anaesthesia. The bleeding was controlled by emergency tonsillectomy.

Cervical enamel projections in unusual locations: A case report and mini-review.

PubMed

Chan, Hsun-Liang; Oh, Tae-Ju; Bashutski, Jill; Fu, Jia-Hui; Wang, Hom-Lay

2010-02-02

Background: Periodontitis is primarily a bacteria-induced disease that can be modified by tooth-related local factors. Cervical enamel projections (CEPs) are a common tooth anomaly that can act as a contributing factor in the development of periodontitis. They are most commonly found at the buccal surfaces of mandibular molars. Methods: A 57-year-old female was referred to our clinic for treatment of chronic periodontitis. Clinical examination revealed moderate attachment loss that was localized to the palatal side of the maxillary secondary molars. The rest of the dentition was less affected, with a diagnosis of generalized slight chronic periodontitis. Initial non-surgical periodontal treatment was provided, followed by apically positioned flap surgery in the maxillary right and left posterior areas. At the time of surgery, CEPs were found where the periodontium was most affected. Results: Due to the fact that surgical intervention exposed the CEPs, they were not removed. After the active therapy, which resulted in inflammation resolution and maintainable probing depth, the patient was placed on a three-month recall for periodontal maintenance. Conclusions: This case report presents CEPs in an unusual location in the palatal roots of maxillary secondary molars. CEPs confirm their role as a local contributing factor in localized chronic periodontitis.

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.

Mycobacterium tuberculosis infection within parotid gland Warthin tumor.

PubMed

Ozcan, Cengiz; Apa, Duygu Düşmez; Aslan, Gönül; Gülhan, Stk; Görür, Kemal

2008-11-01

Tuberculosis of the parotid gland is extremely unusual. Tuberculosis comprises 2.5% to 10% of parotid gland lesions. Two clinical forms of parotid gland tuberculosis infection exist. One is a diffuse parenchymatous disease (either primary or secondary to nodal disease), resembling common infection. The second is a chronic, slow-growing, painless, and firm parotid mass mimicking a neoplasm. Most of these patients were diagnosed after parotid gland surgery and histopathologic evaluation. Warthin tumor is a well-known benign neoplasm of the salivary glands. It is the second most common tumor of the parotid gland. Mycobacterium tuberculosis within Warthin tumor is also unusual. Five cases with parotid gland tuberculosis within Warthin tumor were reported in the literature. In this report, we present a new patient with parotid gland tuberculosis within the Warthin tumor. This type parotid gland pathology is an extremely rare entity, and to the best of our knowledge, this is the second documented case using polymerase chain reaction. We also discussed the possible mechanisms of development of infection within Warthin tumor.

[Trapped temporal horn, an unusual form of obstructive hydrocephalus: 5 case-reports].

PubMed

Abderrahmen, K; Gdoura, Y; Kallel, J; Jemel, H

2016-04-01

"Entrapped temporal horn" is an unusual form of obstructive hydrocephalus which is due to an obstacle at the trigone of the lateral ventricle that seals off the temporal horn that may act as a space occupying process. In this study, our aim was to assess the clinical presentation, imaging, pathophysiology and the management of this entity. The medical records of patients with entrapped temporal horn diagnosed between January 2003 and December 2012 were reviewed retrospectively. Five patients were identified. In four cases, the condition developed after cranial surgery; an infant having two revisions of a ventriculoperitoneal shunt; an adult operated for a glioblastoma, an infant operated on for cerebral hydatidosis and an infant operated for an occipital encephalocele. In the last patient, the entrapped temporal horn revealed sarcoidosis. Trapped temporal horn syndrome can act as a space occupying process and requires surgical management. Internal shunting provides good results. However, the long term outcome depends on the etiology. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

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.

[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.

Trans-nasal-trans-sphenoidal brain injury by a fencing foil: an unusual case report and brief literature review.

PubMed

Özay, Rafet; Balkan, Mehmet S; Tönge, Çağhan; Şekerci, Zeki

2017-11-01

In this report, the authors present an unusual case of a 10-year-old child who suffered a severe headache and rhinorrhea that occurred as a result of fencing foil sports injury via trans-nasal-trans-sphenoidal (TNTS) pathway. Following trauma, the child had shown neurological symptoms such a pupil dilatation, change in consciousness and mild hemiparesia. Imaging demonstrated destruction of bone structures including posterior wall of sphenoid sinus and antero-superior part of sella turcica, and also a contusion at right thalamic region. For treatment of rhinorrhea lumbar drainage system (LDS) had planted in order to relieve cerebrospinal fluid (CSF) leakage. After the treatment, the patient had fully recovered without any need of further surgical intervention. CSF leakage had prevented and neurological symptoms were completely treated. This case represents the first report of brain injury via TNTS pathway in a sports practice. Diagnosis, clinic follow-up and treatment options of this rare accidental sports injury are discussed.

Hydatid cyst of parotid: Report of unusual cytological findings extending the cytomorphological spectrum.

PubMed

Arora, Vinod Kumar; Chopra, Neha; Singh, Poorva; Venugopal, Vasantha Kumar; Narang, Salil

2016-09-01

Hydatid disease is a zoonotic infestation caused by larval cestode of genus Echinococcus. Cystic form of this infection mostly involves liver and lung. Hydatid disease of the parotid gland is very rare even in endemic areas and is often clinically mistaken for parotid tumors or cysts. The presence of protoscolices, laminated membranes, and isolated hooklets are characteristic cytological features observed on fine-needle aspirate from hydatid cysts. We report unusual cytological features from a hydatid cyst of parotid in a 13-year-old girl. She presented with a slowly enlarging hard mass in left parotid. Fine-needle aspiration yielded slightly turbid fluid. Smears from the sediment revealed naked parasitic micronuclei, fragments of germinative layer (endocyst), and abortive brood capsules (buds from endocyst) seen as spherical structures with multiple parasitic nuclei. Some of these spherical structures were degenerated with recognizable nuclei and others were completely necrotic. Diagn. Cytopathol. 2016;44:770-773. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

An unusual case of infective endocarditis presenting as acute myocardial infarction.

PubMed

Chen, Zhong; Ng, Francesca; Nageh, Thuraia

2007-06-01

A 39-year-old Zimbabwean man presented with a 1 week history of fever, general malaise and acute-onset chest pain. He had a urethral stricture, which had been managed with an indwelling supra-pubic catheter. The electrocardiography on admission showed inferior ST-T segments elevation. His chest pain and electrocardiography changes resolved subsequent to thrombolysis, and he remained haemodynamically stable. The 12-h troponin I was increased at 10.5 microg/l (NR <0.04 microg/l). Echocardiography confirmed severe mitral regurgitation and a flail anterior mitral valve leaflet with an independently oscillating mobile vegetation. Enterococci faecalis were grown on blood cultures. A diagnosis of enterococci infective endocarditis with concomitant acute myocardial infarction due to possible septic emboli was made. Despite the successful outcome from thrombolysis in the setting of acute myocardial infarction with infective endocarditis, the case highlights the current lack of definitive data on the optimal acute management of such an unusual clinical scenario. Although there is serious concern that thrombolytic treatment for myocardial infarction in the setting of infective endocarditis may be associated with higher risk of cerebral haemorrhage, there is little documented evidence supporting the safety of primary percutaneous coronary intervention with these patients.

TFG-MET fusion in an infantile spindle cell sarcoma with neural features.

PubMed

Flucke, Uta; van Noesel, Max M; Wijnen, Marc; Zhang, Lei; Chen, Chun-Liang; Sung, Yun-Shao; Antonescu, Cristina R

2017-09-01

An increasing number of congenital and infantile sarcomas displaying a primitive, monomorphic spindle cell phenotype have been characterized to harbor recurrent gene fusions, including infantile fibrosarcoma and congenital spindle cell rhabdomyosarcoma. Here, we report an unusual spindle cell sarcoma presenting as a large and infiltrative pelvic soft tissue mass in a 4-month-old girl, which revealed a novel TFG-MET gene fusion by whole transcriptome RNA sequencing. The tumor resembled the morphology of an infantile fibrosarcoma with both fascicular and patternless growth, however, it expressed strong S100 protein immunoreactivity, while lacking SOX10 staining and retaining H3K27me3 expression. Although this immunoprofile suggested partial neural/neuroectodermal differentiation, overall features were unusual and did not fit into any known tumor types (cellular schwannoma, MPNST), raising the possibility of a novel pathologic entity. The TFG-MET gene fusion expands the genetic spectrum implicated in the pathogenesis of congenital spindle cell sarcomas, with yet another example of kinase oncogenic activation through chromosomal translocation. The discovery of this new fusion is significant since the resulting MET activation can potentially be inhibited by targeted therapy, as MET inhibitors are presently available in clinical trials. © 2017 Wiley Periodicals, Inc.

Unusual tumour ablations: report of difficult and interesting cases.

PubMed

Mauri, Giovanni; Nicosia, Luca; Varano, Gianluca Maria; Shyn, Paul; Sartori, Sergio; Tombesi, Paola; Di Vece, Francesca; Orsi, Franco; Solbiati, Luigi

2017-01-01

Image-guided ablations are nowadays applied in the treatment of a wide group of diseases and in different organs and regions, and every day interventional radiologists have to face more difficult and unusual cases of tumour ablation. In the present case review, we report four difficult and unusual cases, reporting some tips and tricks for a successful image-guided treatment.

FREQUENCY OF SPLENOMEGALY IN DENGUE FEVER IN CHILDREN.

PubMed

Arshad, Kashan; Sheikh, Saifuliah; Naqvi, Syeda Umm-ul-Baneen; Sarwar, Imran; Javaid, Sulman; Asghar, Madiha; Butt, Muhammad Asghar

2015-01-01

Dengue Fever is caused by arthropod born viruses. According to World Health Organization approximately 50-100 million infections of dengue fever occur yearly. Objective of this study was to determine the frequency of splenomegaly in dengue fever in children. This cross sectional study was conducted at the Department of Paediatrics, Allied Hospital, Faisalabad, during a period from June 2012 to May 2013 by including 93 Children, aged 4-14 years presenting with fever of less than 14 days with thrombocytopenia and positive IM or IgM and IgG dengue antibodies by ELISA. Patients were thoroughly evaluated by detailed history and clinical examination. Ultrasonography of the patients was performed to confirm the splenomegaly. The data was analysed to determine the frequency and percentage of disease. Out of 93 children, 51 (54.8%) were male and 42 (45.2%) were female. The most common clinical presentation was noted is chills and rigors in 80 (86.02%). Unusual clinical features were encephalopathy in 3T (39.78%) followed by bleeding manifestations and upper respiratory tract infection (upper RTI). Splenomegaly was seen in 45 (48.4%) children. Dengue fever is increasingly presenting with atypical presentation like splenomegaly, encephalopathy, bleeding manifestations and upper RTI.

Myriad presentations of penile fracture: report of three cases and review of literature

PubMed Central

Faridi, M. S.; Agarwal, Nitin; Saini, Pradeep; Kaur, Navneet; Gupta, Arun

2015-01-01

Penile fracture is an unusual though not a rare condition but underreported. It is defined classically as the disruption of the tunica albuginea with rupture of the corpus cavernosum. Penile fracture can be misdiagnosed with rupture of corpus spongiosum clinically. Therefore, we are presenting three cases due to its varied clinical presentation and management. In first patient, there was a tear in the corpus spongiosum and a partial tear in the ventral urethra. Both defects were repaired with interrupted sutures. In the second patient, there was a rupture of corpus cavernosum, which was primarily repaired. After 1-year of primary surgery, patient again came with similar complaints, and diagnosis of scar dehiscence was made. Patient was treated conservatively with satisfactory results on follow-up. Third patient came with a history of 1-week. Intra-operative findings revealed only hematoma without any defect in corpora cavernosum, corpus spongiosum, and urethra. Only evacuation of hematoma was done. Early surgical treatment of penile fracture is advantageous. In recurrent penile fracture, if no penile deformity or any reasonable clinical and radiological evidence, then conservative management is advocated. Even when presentation is delayed up to 1-week, operative management has shown good results. PMID:25949981

Adrenal haemangioblastoma presenting as phaeochromocytoma: a rare manifestation of extraneural hemangioblastoma.

PubMed

Deb, Prabal; Pal, Seerat; Dutta, Vibha; Srivastava, Anand; Bhargava, Akshay; Yadav, Krishan Kumar

2012-09-01

Adrenal haemangioblastoma presenting clinically as pheochromocytoma is a rare manifestation of extraneural haemangioblastoma. We present an unusual case of von Hippel-Lindau (VHL) disease that had adrenal and cerebellar haemangioblastoma with multiple renal cysts, and a review of the literature. Unlike the usual manifestations of secondary polycythemia or increased intracranial pressure and hydrocephalus due to cerebellar lesion, this 36-year-old male presented with hypertension. Investigations revealed right suprarenal mass with raised urinary catecholamines and serum vanillylmandelic acid (VMA) levels, apparently confirming the clinical diagnosis of phaeochromocytoma. Histopathology of the biopsy specimen showed features of haemangioblastoma, which was confirmed by immunohistochemistry using antibodies to neuron specific enolase and aquaporin-1. Based on this, the patient was screened for possible features of VHL, which revealed cerebellar haemangioblastoma and multiple renal cysts with angiomatous lesion. Postoperative follow-up showed normal levels of catecholamines without any symptoms of phaeochromocytoma. Adrenal haemangioblastoma is a rare entity with only four cases reported in the literature. Surgical removal is the treatment of choice. However, screening for other possible features of VHL, even in the absence of clinical features, is essential to exclude other potential lesions.

Myriad presentations of penile fracture: report of three cases and review of literature.

PubMed

Faridi, M S; Agarwal, Nitin; Saini, Pradeep; Kaur, Navneet; Gupta, Arun

2015-01-01

Penile fracture is an unusual though not a rare condition but underreported. It is defined classically as the disruption of the tunica albuginea with rupture of the corpus cavernosum. Penile fracture can be misdiagnosed with rupture of corpus spongiosum clinically. Therefore, we are presenting three cases due to its varied clinical presentation and management. In first patient, there was a tear in the corpus spongiosum and a partial tear in the ventral urethra. Both defects were repaired with interrupted sutures. In the second patient, there was a rupture of corpus cavernosum, which was primarily repaired. After 1-year of primary surgery, patient again came with similar complaints, and diagnosis of scar dehiscence was made. Patient was treated conservatively with satisfactory results on follow-up. Third patient came with a history of 1-week. Intra-operative findings revealed only hematoma without any defect in corpora cavernosum, corpus spongiosum, and urethra. Only evacuation of hematoma was done. Early surgical treatment of penile fracture is advantageous. In recurrent penile fracture, if no penile deformity or any reasonable clinical and radiological evidence, then conservative management is advocated. Even when presentation is delayed up to 1-week, operative management has shown good results.

Atypical cerebellar slump syndrome and external hydrocephalus following craniocervical decompression for Chiari I malformation: case report.

PubMed

Thakar, Sumit; Dadlani, Ravi; Tawari, Manish; Hegde, Alangar S

2014-01-01

Symptomatic cerebellar slump (CS) and external hydrocephalus (EH) are amongst the rarer complications of foramen magnum decompression (FMD) for Chiari I malformation (CM). CS typically presents with delayed onset headache related to dural traction or with neurological deficit offsetting the benefit of FMD. EH, consisting of ventriculomegaly along with subdural fluid collection(s) (SFCs), has been related to cerebrospinal fluid egress from a tiny breach in an otherwise intact arachnoid. We describe the case of a 21-year-old man with CM and syringomyelia who presented with impaired gag, spastic quadriparesis, and raised intracranial pressure 1 week following an uneventful FMD during which the arachnoid had been widely fenestrated. Magnetic resonance imaging (MRI) showed an infratentorial SFC, dilated aqueduct and triventriculomegaly, features of CS, and a residual but resolving syrinx. His symptoms resolved following a high pressure ventriculo-peritoneal shunt. At a 6-month follow-up visit, he was asymptomatic and demonstrated partial resolution of the syrinx, with no recurrence of the SFC. The unusual features in the clinical course of this patient were an atypical CS syndrome presenting with concomitantly resolving syringomyelia, and the development of EH after a wide arachnoidal fenestration. This is the first case in indexed literature describing such a combination of unusual postoperative complications of a FMD. A hypothesis is presented to explain the clinico-radiological findings of the case.

Atypical Cerebellar Slump Syndrome and External Hydrocephalus following Craniocervical Decompression for Chiari I Malformation: Case Report

PubMed Central

THAKAR, Sumit; DADLANI, Ravi; TAWARI, Manish; HEGDE, Alangar S

2014-01-01

Symptomatic cerebellar slump (CS) and external hydrocephalus (EH) are amongst the rarer complications of foramen magnum decompression (FMD) for Chiari I malformation (CM). CS typically presents with delayed onset headache related to dural traction or with neurological deficit offsetting the benefit of FMD. EH, consisting of ventriculomegaly along with subdural fluid collection(s) (SFCs), has been related to cerebrospinal fluid egress from a tiny breach in an otherwise intact arachnoid. We describe the case of a 21-year-old man with CM and syringomyelia who presented with impaired gag, spastic quadriparesis, and raised intracranial pressure 1 week following an uneventful FMD during which the arachnoid had been widely fenestrated. Magnetic resonance imaging (MRI) showed an infratentorial SFC, dilated aqueduct and triventriculomegaly, features of CS, and a residual but resolving syrinx. His symptoms resolved following a high pressure ventriculo-peritoneal shunt. At a 6-month follow-up visit, he was asymptomatic and demonstrated partial resolution of the syrinx, with no recurrence of the SFC. The unusual features in the clinical course of this patient were an atypical CS syndrome presenting with concomitantly resolving syringomyelia, and the development of EH after a wide arachnoidal fenestration. This is the first case in indexed literature describing such a combination of unusual postoperative complications of a FMD. A hypothesis is presented to explain the clinico-radiological findings of the case. PMID:24257499

Spontaneous splenic haematoma in a teenager with infectious mononucleosis.

PubMed

Halkic, Nermin; Jayet, Cristian; Pezzetta, Edgardo; Mosimann, Francois

2003-01-01

Spontaneous subcapsular splenic hematoma formation without rupture in infectious mononucleosis is a very unusual occurrence. Splenic rupture in infectious mononucleosis (Pfeiffer disease, or glandular fever) is a rare but life-threatening complication. A conservative management is successful in those patients in stable condition. We describe the presentation and the clinical progress of a case in whom a sudden enlargement in hematoma's diameter needed a splenectomy to avoid the risk of blood effusion in the abdominal cavity. The contribution of the sonographic examination and follow-up in the diagnosis of infectious mononucleosis is emphasised.

Enterobius vermicularis salpingitis seen in the setting of ectopic pregnancy in a Malaysian patient.

PubMed

Ngui, Romano; Ravindran, Sarala; Ong, Diana Bee Lan; Chow, Tak Kuan; Low, Kah Pin; Nureena, Zaidi Syeda; Rajoo, Yamuna; Chin, Yuee Teng; Amir, Amirah; Ahmad, Arine Fadzlun; Lim, Yvonne Ai Lian; Mahmud, Rohela

2014-09-01

We report a rare and unusual case of invasive Enterobius vermicularis infection in a fallopian tube. The patient was a 23-year-old Malaysian woman who presented with suprapubic pain and vaginal bleeding. A clinical diagnosis of ruptured right ovarian ectopic pregnancy was made. She underwent a laparotomy with a right salpingo-oophorectomy. Histopathological examination of the right fallopian tube showed eggs and adult remnants of E. vermicularis, and the results were confirmed using PCR and DNA sequencing. Copyright © 2014, American Society for Microbiology. All Rights Reserved.

A Mimicker of Gallbladder Carcinoma: Cystic Gastric Heterotopia with Intestinal Metaplasia.

PubMed

Özgün, Gonca; Adim, Şaduman Balaban; Uğraş, Nesrin; Kiliçturgay, Sadık

2017-01-01

Heterotopic gastric mucosa in the gallbladder is an unusual entity and is usually clinically silent. We report a 75-year-old female patient who presented with intermittent upper abdomial pain radiating to the back. Abdominal imaging studies showed a sessile polypoid lesion and a gallstone in the gallbladder. Gallbladder carcinoma was suspected and cholecystectomy performed. Intraoperative frozen section examination suggested mucinous tumor, suspicious for malignancy. However, the permanent sections revealed aberrant gastric tissue consisted of gastric pyloric and fundic glands of heterotopic gastric mucosa with intestinal metaplasia in the gallbladder.

Invasive aspergillosis in a patient with MELAS syndrome

PubMed Central

McKee, D; Cooper, P; Denning, D

2000-01-01

Invasive infection with the opportunistic fungus Aspergillus fumigatus predominantly affects people with impaired cell mediated immunity. The case of a 31 year old woman with no identified cause for immunosuppression who presented with severe refractory aspergillosis of the paranasal sinuses is reported. She subsequently developed clinical and molecular evidence of mitochondrial encephalomyopathy with lactic acidosis and stroke-like events (MELAS) syndrome. It is proposed that MELAS syndrome may represent an unusual risk factor for the development of invasive aspergillosis and mechanisms are supported by which mitochondrial dysfunction may predispose to this.

 PMID:10811702

Something fishy: six patients with an unusual cause of food poisoning!

PubMed

Hall, Michael

2003-06-01

Scombroid fish poisoning is a clinical syndrome attributed to the ingestion of contaminated fish. A toxin or toxins, known as scombrotoxin, result from decomposition by endogenous flora of the amino acid histidine liberating bioactive amines, predominantly histamine. The presentation has features of histamine toxicity, typically with urticaria, flushing, headache, abdominal cramps, diarrhoea and vomiting. The course is usually mild and self-limiting. The author describes six cases of scombroid poisoning after ingestion of fish from the same Canberra restaurant. One case resulted in significant hypotension necessitating a prolonged stay in the ED.

[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.

Herpes simplex virus following stab phlebectomy.

PubMed

Hicks, Caitlin W; Lum, Ying Wei; Heller, Jennifer A

2017-03-01

Herpes simplex virus infection following surgery is an unusual postoperative phenomenon. Many mechanisms have been suggested, with the most likely explanation related to latent virus reactivation due to a proinflammatory response in the setting of local trauma. Here, we present a case of herpes simplex virus reactivation in an immunocompetent female following a conventional right lower extremity stab phlebectomy. Salient clinical and physical examination findings are described, and management strategies for herpes simplex virus reactivation are outlined. This is the first known case report of herpes simplex virus reactivation following lower extremity phlebectomy.

Monodontella giraffae infection in wild-caught southern giraffes (Giraffa camelopardalis giraffa).

PubMed

Bertelsen, Mads F; Østergaard, Kristine; Monrad, Jesper; Brøndum, Emil T; Baandrup, Ulrik

2009-10-01

Postmortem examination of seven wild-caught southern giraffes (Giraffa camelopardalis giraffa) from Namibia demonstrated focal discoloration, biliary thickening, and peribiliary fibrosis affecting mainly the left liver lobe. The giraffes were infected with Monodontella giraffae, previously associated with lethal infections in captive okapis (Okapia johnstoni) and giraffes. Contrary to this, all seven giraffes investigated in the present study were clinically healthy. Based on these findings, it is suggested that the nematode M. giraffae may not be an unusual parasite of the giraffe and that it does not necessarily cause detrimental liver disease.

Renal arteriovenous malformation: an unusual cause of recurrent haematuria

PubMed Central

Ali, Mazhar; Aziz, Wajahat; Abbas, Farhat

2013-01-01

A 54-year-old woman presented with gross painless haematuria. Initial workup showed no abnormality except mild hydronephrosis on CT scan. Cystoscopy and retrograde pyelography did not find any gross lesion and her urine cytology was also negative. She had recurrent haematuria so her CT was reviewed with the radiologist with clinical suspicion of arteriovenous malformation (AVM) which was suggested by relatively increased contrast density in the hemiazygous vein and renal vein in the arterial phase. She underwent angioembiolisation of left renal AVM after which her haematuria settled. PMID:23867881

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

Retrobulbar anaplastic astrocytoma in a dog: clinicopathological and ultrasonographic features.

PubMed

Martín, E; Pérez, J; Mozos, E; López, R; Molleda, J M

2000-08-01

An 11-year-old entire female German shepherd dog was presented with a progressive non-painful exophthalmos of the right eye. Ultrasonographic examination revealed a solid and well-defined orbital mass compressing the globe. Thoracic radiography revealed multiple pulmonary metastases of different sizes. The histopathological and immunohistochemical features of both the retrobulbar tumour and pulmonary metastases were consistent with an anaplastic astrocytoma. This represents an unusual case of an extracranial astrocytoma with multiple pulmonary metastases. The clinical features and the ultrasonographic, histopathological and immunohistochemical findings are described.

Sporotrichosis in Rio de Janeiro, Brazil: Sporothrix brasiliensis is associated with atypical clinical presentations.

PubMed

Almeida-Paes, Rodrigo; de Oliveira, Manoel Marques Evangelista; Freitas, Dayvison Francis Saraiva; do Valle, Antônio Carlos Francesconi; Zancopé-Oliveira, Rosely Maria; Gutierrez-Galhardo, Maria Clara

2014-09-01

There have been several recent changes in the taxonomy of Sporothrix schenckii as well as new observations regarding the clinical aspects of sporotrichosis. In this study, we determined the identification of the Sporothrix species associated with both classic and unusual clinical aspects of sporotrichosis observed in the endemic area of sporotrichosis in Rio de Janeiro, Brazil. To verify whether S. brasiliensis is associated with clinical manifestations of sporotrichosis, a cross-sectional study was performed in which Sporothrix isolates from 50 patients with different clinical manifestations were analyzed and their isolates were studied by phenotypic and genotypic methods. Data from these patients revealed a distinct clinical picture and therapeutic response in infections caused by Sporothrix brasiliensis (n = 45) compared to patients with S. schenckii sensu stricto (n = 5). S. brasiliensis was associated with disseminated cutaneous infection without underlying disease, hypersensitivity reactions, and mucosal infection, whereas patients with S. schenckii presented with less severe and more often localized disease, similar to the majority of previously described sporotrichosis cases. Interestingly, S. brasiliensis-infected patients overall required shorter durations of itraconazole (median 16 weeks) compared to the individuals with S. schenckii (median 24 weeks). These findings suggest that Sporothrix species are linked to different clinical manifestations of sporotrichosis and that S. brasiliensis is effectively treated with oral itraconazole.

Adrenal cortical oncocytoma mimicking pheochromocytoma.

PubMed

Kiriakopoulos, Andreas; Papaioannou, Dimitrios; Linos, Dimitrios

2011-01-01

Adrenal tumors present with clinical features and signs unique to their specific hormonal hypersecretion. However, there have been cases in which the clinical expression has been in conflict with the histologic features of the tumor. In this communication we report an unusual clinical presentation of an adrenal cortical tumor with histologic features of an oncocytoma that clinically mimicked a pheochromocytoma. A 49-year old man was referred to our Unit due to type B aortic dissection and a mass of the left adrenal gland. Computed tomography and magnetic resonance imaging confirmed the presence of aortic dissection extending from the left subclavian artery to both iliac arteries and also revealed a 6 cm tumor on the left adrenal gland. Preoperative endocrine evaluation showed a near tenfold increase of urinary vanillylmandelic acid (VMA) and metanephrine values. Transperitoneal laparoscopic adrenalectomy was successfully performed. The adrenal tumor proved to be an adrenal cortical neoplasm with histologic features of oncocytoma. Although the case of an adrenal cortical adenoma clinically mimicking a pheochromocytoma has been described in the literature, to the best of our knowledge, there has been no previous report of an adrenal cortical neoplasm with predominant features of oncocytoma.

[Cerebral artery infarction presented as an unusual complication of acute middle otitis].

PubMed

Moscote-Salazar, Luis Rafael; Alcalá-Cerra, Gabriel; Castellar-Leones, Sandra Milena; Gutiérrez-Paternina, Juan José

2013-01-01

acute otitis media is a frequent disease in the pediatric age. About 2 % of all cases develop intracranial complications such as meningitis. The cerebral infarction originates meningitis and usually occurs in the venous system. The presence of a cerebral artery infarction secondary to acute otitis media is a rare cause described in the literature. a girl of 12 months who presented a febrile syndrome due to acute otitis media and mental confusion. On physical examination, she appeared sleepy with anisocoria, mydriasis in the right eye and left hemiparesis. The computed tomography examination showed extensive cerebral artery infarction. The patient's parents refused the proposed surgical treatment and the girl died 48 hours later. regardless of the current technological advances, the clinical prognosis of cerebral infarction associated with acute otitis media is bad. The focused neurological signs and progressive clinical deterioration should raise suspicion that antimicrobial therapy is not effective.

Acute appendicitis with unusual dual pathology

PubMed Central

Riddiough, Georgina E.; Bhatti, Imran; Ratliff, David A.

2011-01-01

INTRODUCTION Meckel's diverticulum is a rare congenital abnormality arising due to the persistence of the vitelline duct in 1–3% of the population. Clinical presentation is varied and includes rectal bleeding, intestinal obstruction, diverticulitis and ulceration; therefore diagnosis can be difficult. PRESENTATION OF CASE We report a case of acute appendicitis complicated by persistent post operative small bowel obstruction. Further surgical examination of the bowel revealed an non-inflamed, inverted Meckel's diverticulum causing intussusception. DISCUSSION Intestinal obstruction in patients with Meckel's diverticulum may be caused by volvulus, intussusception or incarceration of the diverticulum into a hernia. Obstruction secondary to intussusception is relatively uncommon and frequently leads to a confusing and complicated clinical picture. CONCLUSION Consideration of Meckel's diverticulum although a rare diagnosis is imperative and this case raises the question “should surgeons routinely examine the bowel for Meckel's diverticulum at laparoscopy?” PMID:22288035

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

In vitro activity of daptomycin against clinical isolates of Gram-positive bacteria.

PubMed

Piper, Kerryl E; Steckelberg, James M; Patel, Robin

2005-08-01

We determined the activity of daptomycin, a recently FDA-approved antimicrobial agent, against clinical isolates of Gram-positive bacteria, including viridans group streptococci (16 Streptococcus mitis species group, 12 S. mutans species group, 9 S. anginosus species group, 8 S. sanguinis species group, 5 S. salivarius species group) from patients with infective endocarditis, 32 methicillin-resistant Staphylococcus aureus, 32 high-level penicillin-resistant Streptococcus pneumoniae, 38 vancomycin-resistant enterococci (including 1 linezolid-resistant isolate), and the following unusual Gram-positive bacteria: 3 Listeria monocytogenes, 4 Erysipelothrix rhusiopathiae, 9 Corynebacterium species, 10 Abiotrophia/Granulicatella species, 2 Rothia (Stomatococcus) mucilaginosus, and 4 Gemella morbillorum. Daptomycin minimum inhibitory concentration (MIC)(90) values for the viridans group streptococci, methicillin-resistant S. aureus, penicillin-resistant S. pneumoniae, and Enterococcus species were 0.5, 0.5, < or =0.125, and 4 microg/ml, respectively. The daptomycin MIC range for the unusual Gram-positive bacteria was < or =0.125-2 microg/ml. We conclude that daptomycin has in vitro activity against viridans group streptococci associated with endocarditis as well as against several types of unusual Gram-positive bacteria that can cause endocarditis.

Persistent problems with the Munchausen syndrome by proxy label.

PubMed

Pankratz, Loren

2006-01-01

After nearly 30 years of clinical and legal experience, the definition of Munchausen syndrome by proxy remains controversial. As a result, mothers who present the problems of their children in ways perceived as unusual or problematic have become entangled in legal battles that should have been resolved clinically. Re-labeling the disorder as Pediatric Condition Falsification misdirects the focus onto mistakes and misunderstandings while avoiding the more crucial issue of intentions. Experts have enflamed the fears of harm by confusing warning signs with diagnostic signs and by citing retrospective studies instead of the more optimistic outcome studies. Accused mothers need the support of multidisciplinary teams but are often forced into contentious struggles with legal professionals and child protection services.

Advance modern medicine with clinical case reports.

PubMed

Wáng, Yì-Xiáng J

2014-12-01

Randomized clinical trial (RCT) can fail to demonstrate the richness of individual patient characteristics. Given the unpredictable nature of medicine, a patient may present in an unusual way, have a strange new pathology, or react to a medical intervention in a manner not seen before. The publication of these novelties as case reports is a fundamental way of conveying medical knowledge. Throughout history there have been famous case studies that shaped the way we view health and disease. Case reports can have the following functions: (I) descriptions of new diseases; (II) study of mechanisms; (III) discovery new therapies; (IV) recognition of side effects; and (V) education. Before submitting a case report, it is worthwhile to refer to the Case Report Check Sheet described by Green and Johnson [2006].

Infectious mononucleosis with atypical manifestations accompanied by transient IgM antibody response for cytomegalovirus.

PubMed

Nishikawa, Jun; Funada, Hisashi; Miyazaki, Takako; Fujinami, Haruka; Miyazono, Takayoshi; Murakami, Jun; Kudo, Takahiko; Sugiyama, Toshiro

2011-10-01

Infectious mononucleosis (IM) is a clinical syndrome caused by primary infection with Epstein-Barr virus (EBV) that is common in adolescents. In adults, particularly in elderly people, the clinical picture of IM tends to be atypical, often leading to a diagnostic challenge. Diagnosis is also complicated because infection with EBV can induce the synthesis of cross-reacting immunoglobulin M antibodies for other herpesviruses. We report an unusual case of infectious mononucleosis in a 34-year-old immunocompetent adult. Epidemiological studies indicate that the average age of primary EBV infection in developed countries is increasing. IM with atypical presentation will be a diagnostic challenge in the future as the number of EBV-naïve adults increases.

Recurrent Obstructive Giant Inflammatory Polyposis of the Colon

PubMed Central

Budhraja, Vikram

2016-01-01

Inflammatory polyps are relatively common in patients with inflammatory bowel disease. The term giant inflammatory polyposis is used to describe inflammatory polyps greater than 1.5 cm in any dimension. Their clinical presentation can be varied, ranging from asymptomatic, with incidental detection on radiological or endoscopic testing, to symptomatic, with rectal bleeding and colonic obstruction. Although giant inflammatory polyposis is a rare finding, it is of clinical importance, since it is easily mistaken for colon cancer, with patients sometimes undergoing radical surgeries. We describe an unusual case of giant inflammatory polyposis causing recurrent symptomatic obstruction despite multiple segmental colectomies in a patient with indeterminate colitis. This is the first such reported case in English literature to the best of our knowledge. PMID:27807551

Recurrent Obstructive Giant Inflammatory Polyposis of the Colon.

PubMed

Syal, Gaurav; Budhraja, Vikram

2016-08-01

Inflammatory polyps are relatively common in patients with inflammatory bowel disease. The term giant inflammatory polyposis is used to describe inflammatory polyps greater than 1.5 cm in any dimension. Their clinical presentation can be varied, ranging from asymptomatic, with incidental detection on radiological or endoscopic testing, to symptomatic, with rectal bleeding and colonic obstruction. Although giant inflammatory polyposis is a rare finding, it is of clinical importance, since it is easily mistaken for colon cancer, with patients sometimes undergoing radical surgeries. We describe an unusual case of giant inflammatory polyposis causing recurrent symptomatic obstruction despite multiple segmental colectomies in a patient with indeterminate colitis. This is the first such reported case in English literature to the best of our knowledge.

Tinea capitis caused by Trichophyton tonsurans presenting as an obscure patchy hair loss due to daily antifungal shampoo use.

PubMed

Sombatmaithai, Alita; Pattanaprichakul, Penvadee; Tuchinda, Papapit; Surawan, Theetat; Muanprasart, Chanai; Matthapan, Lalita; Bunyaratavej, Sumanas

2015-04-01

Tinea capitis is unusual and often misdiagnosed in healthy adults. We report a case of a healthy woman with a several-year history of asymptomatic, bizarre-shaped, non-scarring alopecia. She had used over-the-counter ketoconazole shampoo regularly for a long time. An initial potassium hydroxide preparation showed negative result for fungal organism. The scalp biopsy revealed endothrix infection, and dermoscopic examination demonstrated the comma hair and corkscrew hair signs. The fungal culture showed Trichophyton tonsurans. The daily use of antifungal shampoo could be the important factor to conceal clinical and laboratory findings for diagnosis of T. tonsurans tinea capitis in our case, which required high clinical suspicion and histopathology and dermoscopic examinations.

Tinea capitis caused by Trichophyton tonsurans presenting as an obscure patchy hair loss due to daily antifungal shampoo use

PubMed Central

Sombatmaithai, Alita; Pattanaprichakul, Penvadee; Tuchinda, Papapit; Surawan, Theetat; Muanprasart, Chanai; Matthapan, Lalita; Bunyaratavej, Sumanas

2015-01-01

Tinea capitis is unusual and often misdiagnosed in healthy adults. We report a case of a healthy woman with a several-year history of asymptomatic, bizarre-shaped, non-scarring alopecia. She had used over-the-counter ketoconazole shampoo regularly for a long time. An initial potassium hydroxide preparation showed negative result for fungal organism. The scalp biopsy revealed endothrix infection, and dermoscopic examination demonstrated the comma hair and corkscrew hair signs. The fungal culture showed Trichophyton tonsurans. The daily use of antifungal shampoo could be the important factor to conceal clinical and laboratory findings for diagnosis of T. tonsurans tinea capitis in our case, which required high clinical suspicion and histopathology and dermoscopic examinations. PMID:26114071

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.

Blindness, dancing extremities, and corpus callosum and brain stem involvement: an unusual presentation of fulminant subacute sclerosing panencephalitis.

PubMed

Singhi, Pratibha; Saini, Arushi Gahlot; Sankhyan, Naveen; Gupta, Pankaj; Vyas, Sameer

2015-01-01

A 4-year-old girl presented with acute visual loss followed 2 weeks later with loss of speech and audition, fulminant neuroregression, and choreo-athetoid movements of extremities. Fundus showed bilateral chorioretinitis. Electroencephalography showed periodic complexes. Measles antibody titers were elevated in both serum and cerebrospinal fluid, consistent with subacute sclerosing panencephalitis. Neuroimaging showed discontiguous involvement of splenium of the corpus callosum and ventral pons with sparing of cortical white matter. Our case highlights the atypical clinical and radiologic presentations of subacute sclerosing panencephalitis. Pediatricians need to be aware that necrotizing chorioretinitis in a child and/or atypical brain stem changes could be the heralding feature of this condition in endemic countries. © The Author(s) 2014.

Isolated brain stem lesion in children: is it acute disseminated encephalomyelitis or not?

PubMed

Alper, G; Sreedher, G; Zuccoli, G

2013-01-01

Isolated brain stem lesions presenting with acute neurologic findings create a major diagnostic dilemma in children. Although the brain stem is frequently involved in ADEM, solitary brain stem lesions are unusual. We performed a retrospective review in 6 children who presented with an inflammatory lesion confined to the brain stem. Two children were diagnosed with connective tissue disorder, CNS lupus, and localized scleroderma. The etiology could not be determined in 1, and clinical features suggested monophasic demyelination in 3. In these 3 children, initial lesions demonstrated vasogenic edema; all showed dramatic response to high-dose corticosteroids and made a full clinical recovery. Follow-up MRI showed complete resolution of lesions, and none had relapses at >2 years of follow-up. In retrospect, these cases are best regarded as a localized form of ADEM. We conclude that though ADEM is typically a disseminated disease with multifocal lesions, it rarely presents with monofocal demyelination confined to the brain stem.

Sciatica as a presenting feature of thyroid follicular adenocarcinoma in a 79-year-old woman

PubMed Central

Ogbodo, Elisha; Kaliaperumal, Chandrasekaran; Keohane, Catherine; Bermingham, Niamh; Kaar, George

2011-01-01

The authors describe an unusual case of metastatic thyroid follicular adenocarcinoma presenting with sciatica in a 79-year-old woman. The primary thyroid tumour was undiagnosed until this clinical presentation. The patient gave a short history of back pain and right-sided sciatica, which was progressive and nocturnal in nature. Neuroimaging revealed an enhancing intradural mass lesion, which was completely excised through a right L1-L3 hemilaminectomy. Histopathological examination of the excised tissue revealed a follicular thyroid carcinoma. Subsequent metastatic investigation revealed a heterogeneously attenuating mixed solid cystic mass in a retrosternal thyroid gland, with multiple solid pulmonary nodules suggestive of metastatic disease. She opted for palliative radiotherapy for the primary thyroid cancer and made remarkable postoperative improvement. The authors conclude that surgical treatment of solitary metastatic lesion may produce good symptomatic relief irrespective of patient’s age and primary pathology, while emphasising the need for detailed clinical evaluation of patients with ‘red flag’ symptoms. PMID:22674960

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.

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.

Spontaneous haemothorax: an unusual presentation of primary lung cancer.

PubMed Central

Chou, S. H.; Cheng, Y. J.; Kao, E. L.; Chai, C. Y.

1993-01-01

An unusual case of spontaneous haemothorax caused by a subpleural primary lung cancer is reported. Tumour invasion of the pulmonary vessels and visceral pleura was the possible cause. Images PMID:8296269

Multicentric visceral epithelioid hemangioendothelioma, with extremity dermal deposits, unusual late recurrence on the nasal bridge, and TFE3 gene rearrangement.

PubMed

Thway, Khin; Mentzel, Thomas; Perrett, Conal M; Calonje, Eduardo

2018-02-01

Epithelioid hemangioendothelioma (EHE) is a malignant neoplasm with vascular differentiation that most frequently occurs within soft tissues, bone, lung, and liver. It is histologically typified by epithelioid or spindle cells present singly or in cords or clusters, many with cytoplasmic vacuoles that can contain intraluminal erythrocytes (in keeping with primitive vascular differentiation), within myxohyaline or sclerotic matrix. Up to 50% present with synchronous lesions as multifocal disease. The WWTR1-CAMTA1 fusion has been demonstrated in EHEs at a variety of sites and is considered to represent its genetic hallmark. We describe a case of EHE in a patient who initially presented with multiple liver and pulmonary deposits, was found to have a soft tissue lesion in the foot, and then presented with further lesions on the nasal bridge and the arm approximately 6 years after initial presentation. Interestingly, the case showed diffuse CAMTA1 expression but negative TFE3 immunohistochemically, but in contrast showed TFE3 gene rearrangement with fluorescence in situ hybridization but no evidence of WWTR1-CAMTA1 translocation. The clinical behavior of EHE is unpredictable, and this case highlights unusual anatomic, immunohistochemical, and molecular cytogenetic findings. Characterization of the genetics of EHE is important because targeted therapies toward products of the specific WWTR1-CAMTA1 gene fusion may have an impact in the near future. Copyright © 2017 Elsevier Inc. All rights reserved.

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

Ruptured intracranial dermoid: an unusual cause of headache in an older patient.

PubMed

Rajapakse, Anoja; Diack, Alison

2008-02-01

A 76-year-old woman with a history of migraine presented with worsening headache. Computerized tomography brain scan and magnetic resonance imaging brain scan showed the presence of fat globules in the cerebrospinal fluid space. This appearance was suggestive of ruptured intracranial dermoid. She recovered spontaneously. While headache is a known presentation of ruptured intracranial dermoid, the condition is unusual to present in older people.

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.

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

An occult aldosterone-producing adenoma initially presenting as hyperosmolar hyperglycaemic state.

PubMed

Kuo, Feng-Chih; Hung, Yi-Jen; Hsieh, Chang-Hsun; Hsiao, Fone-Ching

2012-09-01

Aldosterone-producing adenoma (APA), one of the most common causes of primary hyperaldosteronism, is clinically characterized by hypertension, increased sodium retention, increased potassium excretion and altered glucose metabolism. APA can also manifest in the form of hyperosmolar hyperglycaemic state (HHS), which is a life-threatening acute diabetic complication. Infection and inadequate fluid replacement are the common precipitating and predisposing factors for the occurrence of HHS. Here, we report a case of occult APA with the initial presentation of HHS, in which an unusually rapid correction of diabetes was observed after correct diagnosis and surgical resection of the APA. To our knowledge, this is the first case with such manifestations and outcome.

Endodontic treatment of a maxillary central incisor with two roots.

PubMed

Maghsoudlou, Amir; Jafarzadeh, Hamid; Forghani, Maryam

2013-03-01

This clinical report presents a rare case of maxillary central incisor with two separate roots. Unusual morphology of the roots and root canals may exist in any tooth. Recognition of the dental anatomy and its variations is necessary for successful endodontic therapy. It is well known that maxillary incisors are usually single-rooted teeth. The root canals were instrumented with conventional hand files and Gates Glidden and obturated by using the lateral technique. Recall radiograph after 1 year shows the healing process of the preoperative apical periodontitis. Clinicians should be aware of unexpected root canal morphology when performing root canal therapy. The present case demonstrated the importance of accurate preoperative radiograph and adequate access preparation.

[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.

A rare cause of headache: cerebral venous sinus thrombosis due to hyperthyroidism.

PubMed

Pekdemir, Murat; Yilmaz, Serkan; Ersel, Murat; Sarisoy, Hasan Tahsin

2008-03-01

Headache represents up to 4% of all emergency department (ED) visits. Emergency physicians generally are concerned with identifying those patients whose headaches are caused by life-threatening conditions. Cerebral venous sinus thrombosis may be difficult to diagnose clinically because of its various and nonspecific manifestations. The most frequent but least specific symptom of sinus thrombosis is severe headache, which is present in more than 90% of adult patients. In the case report we present, a patient had severe headache and was diagnosed until third ED visit at different hospitals. He had one of the most unusual causes of headache, that is, cerebral venous sinus thrombosis due to hyperthyroidism.

A Rare Bilateral Presentation of Multiple Dens Invaginatus, Shovel-Shaped Incisor and Talon Cusp With Mesiodens.

PubMed

Hegde, S; Jain, M; Shubha, A B

2014-01-01

The aim of this paper is to describe a unique and unusual case of concomitant appearance of morphological dental anomalies in the maxillary anterior region, along with its management in a patient with no systemic abnormality. This case report describes the clinical and radiographic features of talon cusp, dens invaginatus, shovel-shaped incisors and a supernumerary tooth occurring in a single patient, which is a rare presentation. All 4 permanent maxillary incisors had dens invaginatus, the permanent maxillary canines showed the presence of talon cusps, the permanent maxillary central incisors were shovel-shaped and an erupted mesiodens was also observed. Treatment included restorative, surgical and orthodontic approaches.

Infrasellar craniopharyngioma of the posterior nasal septum: a rare entity.

PubMed

Chiun, Kian Chai; Tang, Ing Ping; Vikneswaran, Tharumalingam; Nurshaline Pauline, H Kipli

2012-02-01

To report an unusual location of infrasellar craniopharyngioma in a peadiatric patient. A six-year-old boy presented with persistent bilateral nasal obstruction for one year. Clinical examination revealed a posterior choanal mass arising from septum and the finding was confirmed by paranasal sinuses computed tomography scan. He then underwent wide local excision. Histopathological examination confirmed the diagnosis of craniopharyngioma (adamantinomatous type). There were no signs and symptoms of recurrence after a year of followup. Infracranial craniopharyngioma without sellar involvement is extremely rare. Persistent nasal obstruction without endocrine dysfunction is the common presentation. Radiological imaging is important to diagnose and assess the extent. The mainstay of treatment for infrasellar craniopharyngioma is surgery. Regular follow up is mandatory.

Variation in psychosocial influences according to the dimensions and content of children's unusual experiences: potential routes for the development of targeted interventions.

PubMed

Ruffell, Tamatha; Azis, Matilda; Hassanali, Nedah; Ames, Catherine; Browning, Sophie; Bracegirdle, Karen; Corrigall, Richard; Laurens, Kristin R; Hirsch, Colette; Kuipers, Elizabeth; Maddox, Lucy; Jolley, Suzanne

2016-03-01

The psychosocial processes implicated in the development and maintenance of psychosis differ according to both the dimensional attributes (conviction, frequency, associated distress, adverse life impact) and the content or type (e.g. grandiosity, hallucinations, paranoia) of the psychotic symptoms experienced. This has informed the development of 'targeted' cognitive behavioural therapy for psychosis (CBTp): interventions focusing on specific psychological processes in the context of particular symptom presentations. In adults, larger effect sizes for change in primary outcomes are typically reported in trials of targeted interventions, compared to those for trials of generic CBTp approaches with multiple therapeutic foci. We set out to test the theoretical basis for developing targeted CBTp interventions for young people with distressing psychotic-like, or unusual, experiences (UEs). We investigated variations in the psychosocial processes previously associated with self-reported UE severity (reasoning, negative life events, emotional problems) according to UE dimensional attributes and content/type (using an established five-factor model) in a clinically referred sample of 72 young people aged 8-14 years. Regression analyses revealed associations of conviction and grandiosity with reasoning; of frequency, and hallucinations and paranoia, with negative life events; and of distress/adverse life impact, and paranoia and hallucinations, with emotional problems. We conclude that psychological targets for intervention differ according to particular characteristics of childhood UEs in much the same way as for psychotic symptoms in adults. The development of targeted interventions is therefore indicated, and tailoring therapy according to presentation should further improve clinical outcomes for these young people.

Non-inflammatory destructive periodontal disease: a clinical, microbiological, immunological and genetic investigation

PubMed Central

REPEKE, Carlos Eduardo; CARDOSO, Cristina Ribeiro; CLAUDINO, Marcela; SILVEIRA, Elcia Maria; TROMBONE, Ana Paula Favaro; CAMPANELLI, Ana Paula; SILVA, João Santana; MARTINS JÚNIOR, Walter; GARLET, Gustavo Pompermaier

2012-01-01

Periodontitis comprises a group of multifactorial diseases in which periodontopathogens accumulate in dental plaque and trigger host chronic inflammatory and immune responses against periodontal structures, which are determinant to the disease outcome. Although unusual cases of non-inflammatory destructive periodontal disease (NIDPD) are described, their pathogenesis remains unknown. A unique NIDPD case was investigated by clinical, microbiological, immunological and genetic tools. The patient, a non-smoking dental surgeon with excessive oral hygiene practice, presented a generalized bone resorption and tooth mobility, but not gingival inflammation or occlusion problems. No hematological, immunological or endocrine alterations were found. No periodontopathogens (A. actinomycetemcomitans, P. gingivalis, F. nucleatum and T. denticola) or viruses (HCMV, EBV-1 and HSV-1) were detected, along with levels of IL-1β and TNF-α in GCF compatible with healthy tissues. Conversely ALP, ACP and RANKL GCF levels were similar to diseased periodontal sites. Genetic investigation demonstrated that the patient carried some SNPs, as well HLA-DR4 (*0404) and HLA-B27 alleles, considered risk factors for bone loss. Then, a less vigorous and diminished frequency of toothbrushing was recommended to the patient, resulting in the arrest of alveolar bone loss, associated with the return of ALP, ACP and RANKL in GCF to normality levels. In conclusion, the unusual case presented here is compatible with the previous description of NIDPD, and the results that a possible combination of excessive force and frequency of mechanical stimulation with a potentially bone loss prone genotype could result in the alveolar bone loss seen in NIDPD. PMID:22437688

Dangers of neglect: partially embedded ring upon a finger.

PubMed

Kumar, Anand; Edwards, Huw; Lidder, Surjit; Mestha, Prabhakar

2013-05-09

Digital swelling is a common presentation in clinical practice. Patients presenting with swollen fingers to the emergency department will often have rings on their finger, which can be removed using a variety of simple non-operative techniques or by cutting the ring off and thus avoiding any long-term consequences. Very rarely, when there is a delay in presentation of these patients, serious consequences may proceed, including finger ischaemia, infection, tendon attrition or ultimately the need for surgical amputation. We present an unusual case of patient with psychiatric illness who presented late with a ring that had embedded upon the volar aspect of the index finger. The difficulties faced by the emergency care practitioners in such circumstances, the consequences of rings acting as a tourniquet and strategies for removal of rings on swollen fingers are highlighted.

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

Pleural effusion as the initial clinical presentation in disseminated cryptococcosis and fungaemia: an unusual manifestation and a literature review.

PubMed

Chen, Mayun; Wang, Xiaomi; Yu, Xianjuan; Dai, Caijun; Chen, Dunshun; Yu, Chang; Xu, Xiaomei; Yao, Dan; Yang, Li; Li, Yuping; Wang, Liangxing; Huang, Xiaoying

2015-09-22

Cryptococcus neoformans infection usually presents as chronic meningitis and is increasingly being recognized in immunocompromised patients. Presentation with pleural effusion is rare in cryptococcal disease; in fact, only 4 cases of pleural effusion as the initial clinical presentation in cryptococcosis have been reported in English-language literature to date. We report the first case of pleural effusion as the initial clinical presentation in a renal transplant recipient who was initially misdiagnosed with tuberculous pleuritis but who then developed fungaemia and disseminated cryptococcosis. The examination of this rare manifestation and the accompanying literature review will contribute to increased recognition of the disease and a reduction in misdiagnoses. We describe a 63-year-old male renal transplant recipient on an immunosuppressive regimen who was admitted for left pleural effusion and fever. Cytological examinations and pleural fluid culture were nonspecific and negative. Thoracoscopy only found chronic, nonspecific inflammation with fibrosis in the pleura. After empirical anti-tuberculous therapy, the patient developed an elevated temperature, a severe headache and vomiting and fainted in the ward. Cryptococci were specifically found in the cerebrospinal fluid following lumbar puncture. Blood cultures were twice positive for C. neoformans one week later. He was transferred to the respiratory intensive care unit (RICU) immediately and was placed on non-invasive ventilation for respiratory failure for 2 days. He developed meningoencephalitis and fungaemia with C. neoformans during hospitalization. He was given amphotericin B liposome combined with 5-flucytosine and voriconazole for first 11 days, then amphotericin B liposome combined with 5-flucytosine sustained to 8 weeks, after that changed to fluconazole for maintenance. His condition improved after antifungal treatment, non-invasive ventilation and other support. Further pathological consultation and periodic acid-Schiff staining revealed Cryptococcus organisms in pleural sections, providing reliable evidence for cryptococcal pleuritis. Pleural effusion is an unusual manifestation of cryptococcosis. Cryptococcal infection must be considered in the case of patients on immunosuppressives, especially solid-organ transplant recipients, who present with pleural effusion, even if pleural fluid culture is negative. Close communication between the pathologist and the clinician, multiple special biopsy section stains and careful review are important and may contribute to decreasing misdiagnosis.

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.

Asymmetry in mesial root number and morphology in mandibular second molars: a case report

PubMed Central

Shetty, Shashit; Shekhar, Rhitu

2014-01-01

Ambiguity in the root morphology of the mandibular second molars is quite common. The most common root canal configuration is 2 roots and 3 canals, nonetheless other possibilities may still exist. The presence of accessory roots is an interesting example of anatomic root variation. While the presence of radix entomolaris or radix paramolaris is regarded as a typical clinical finding of a three-rooted mandibular second permanent molar, the occurrence of an additional mesial root is rather uncommon and represents a possibility of deviation from the regular norms. This case report describes successful endodontic management of a three-rooted mandibular second molar presenting with an unusual accessory mesial root, which was identified with the aid of multiangled radiographs and cone-beam computed tomography imaging. This article also discusses the prevalence, etiology, morphological variations, clinical approach to diagnosis, and significance of supernumerary roots in contemporary clinical dentistry. PMID:24516829

“Adenomatous Polyps Of The Gallbladder” Adenomas oF the Gallbladder

PubMed Central

Pacella, Antonio; Cetta, Francesco; Sianesi, Mario

1991-01-01

The finding of adenomatous polyps of the gallbladder is a rare occurrence and an unusual clinical problem. Among 2,145 patients who underwent cholecystectomy for gallbladder disease only 9 (0.4 per cent) presented with adenomatous polyps. There were 6 women and 3 men, aged 17 to 70 years. Preoperative ultrasonographic diagnosis was made in only 1 of 7 patients with gallstones, in contrast polypoid lesions within a gallbladder without stones were easily confirmed by both ultrasonography and oral cholecystography in the remaining 2 patients. All polyps were 1.0 cm or less in size and without histologic evidence of malignant change. The clinical significance of this rare condition is discussed, with particular reference to a possible role in development of gallbladder carcinoma. Surgical treatment should be advocated regardless of clinical manifestation when the polyp exceeds 1.0 cm in diameter or rapid growth of the lesion is seen on ultrasonographic follow-up examinations. PMID:1859800

[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.

[Stroke in young adults: incidence and clinical picture in 280 patients according to their aetiological subtype].

PubMed

Arboix, Adrià; Massons, Joan; García-Eroles, Luís; Oliveres, Montserrat

2016-03-04

To assess the clinical features and incidence rate of stroke in young adults (less than 55 years of age). Hospital-based descriptive study of 280 young inpatients consecutively admitted for stroke over a period of 24 years. We conducted a comparison with the remaining 4,312 patients admitted for stroke. Stroke in young adults represented 6.1% of all strokes, 5.7% of transient ischaemic attacks, 5.8% of cerebral infarctions and 8.4% of brain haemorrhages. However, reported minimal frequency of cardioembolic (2.1%) and atherothrombotic (3.4%) infarctions, accounted for 5.9% of lacunar and for 10.7% of essential infarctions and showed a maximum frequency in those infarctions of unusual aetiology (36%). Factors independently associated with stroke in young adults were cigarette smoking (OR 4.23; 95% CI 3.02-5.93; P=.000), unusual aetiology (OR 4.97; 95% CI 3.15-7.84; P=.000), headache (OR 4.57; 95% CI 2.59-8.07; P=.000), alcohol abuse (OR 3.93; 95% CI 2.46-6.29; P=.000), oral contraceptives (OR 14.07; 95% CI 2.37-83.40; P=.004), atrial fibrillation (OR 0.15; 95% CI 0.08-0.28; P=.000), arterial hypertension (OR 0.43; 95% CI 0.33-0.57; P=.000), COPD (OR 0.20; 95% CI 0.09-0.44; P=.000), atherothrombotic infarction (OR 0.51; 95% CI 0.34-0.77; P=.001), female sex (OR 0.71; 95% CI 0.52-0.97; P=.029), diabetes mellitus (OR 0.66; 95% CI 0.46-0.98; P=.030), ischaemic heart disease (OR 0.56; 95% CI 0.33-0.95; P=.032) and intermittent claudication (OR 0.48; 95% CI 0.24-0.94; P=.033). Stroke in young adults is infrequent (6.1% of the total), but represents the highest frequency of cerebral infarcts of unusual aetiology (36%). We conclude that stroke in younger patients presents its own and differentiated clinical profile. Copyright © 2015 Elsevier España, S.L.U. All rights reserved.

Anesthesia in a 12 year old boy with somatic overgrowth secondary to pericentric inversion of chromosome 12.

PubMed

Wong, Tina B; Rowell, Jonathan C; Waldhausen, John H T; Parisi, Melissa A; Jonmarker, Christer

2013-03-01

The management of a splenectomy in a boy with an unusual form of somatic overgrowth is presented. Except for a moderately difficult airway, no unusual reactions to anesthesia and surgery were encountered. Possible anesthetic implications of different somatic overgrowth syndromes in children are presented. Copyright © 2013. Published by Elsevier Inc.

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.

Syphilitic punctate inner retinitis in immunocompetent gay men.

PubMed

Wickremasinghe, Sanjeewa; Ling, Cecilia; Stawell, Richard; Yeoh, Jonathan; Hall, Anthony; Zamir, Ehud

2009-06-01

To describe the features of an unusual syphilitic uveitis syndrome in a cluster of homosexual patients. Retrospective case series. Five consecutive patients diagnosed with syphilitic retinitis in our Melbourne uveitis clinic over a period of 8 months. The case notes of patients diagnosed with syphilitic retinitis were reviewed and the clinical features are presented and discussed. Description of retinal findings and documentation of any associated sequelae. All patients were homosexual men. Two were human immunodeficiency virus positive. None of the patients had been previously diagnosed with syphilis, although 3 presented with systemic symptoms and signs of secondary syphilis. All patients had marked anterior uveitis and vitritis. All patients had acute retinal arteriolitis and inner retinitis, with distinctive, inner retinal and preretinal white dots. These retinal findings were remarkably similar in all patients, and resolved with little or no sequelae after standard systemic treatment for syphilis, combined with oral prednisolone. Syphilitic retinitis may be an increasingly common clinical problem, reflecting the growing incidence of syphilis among homosexual men in Australia. Our patients showed stereotypical ocular and systemic features, which are useful in differentiating this condition clinically from other types of acute posterior uveitis, such as necrotizing viral retinitis. Proprietary or commercial disclosure may be found after the references.

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.

Velocardiofacial syndrome in Mexican patients: Unusually high prevalence of congenital heart disease.

PubMed

Márquez-Ávila, Candy Sue; Vizcaíno-Alarcón, Alfredo; García-Delgado, Constanza; Núñez-Martínez, Paulina María; Flores-Ramírez, Francisco; Reyes-de la Rosa, Alejandra del Pilar; Mendelsberg-Fishbein, Paola; Ibarra-Grajeda, Diana; Medina-Bravo, Patricia; Balderrábano-Saucedo, Norma; Esteva-Solsona, Salvador; Márquez-Quiróz, Luz del Carmen; Flores-Cuevas, Arturo; Sánchez-Urbina, Rocío; Morales-Jiménez, Ariadna Berenice; Garibay-Nieto, Nayely; Del Bosque-Garza, Jesús; Pietropaolo-Cienfuegos, Dino; Gutiérrez-Camacho, Claudia; García-Morales, Leticia; Morán-Barroso, Verónica Fabiola

2015-11-01

Velocardiofacial syndrome (VCFS) is the most common microdeletion syndrome with an incidence of 1:4000 live births. Its phenotype is highly variable with facial, velopharyngeal, cardiac, endocrine, immunologic and psychiatric abnormalities. It is caused by a microdeletion in chromosome 22q11.2. We present 7 years of experience evaluating patients with VCFS regarding their main clinical characteristics. The patients included were multidisciplinary evaluated and had a positive FISH analysis for del22q11.2. A total of 62 patients were assessed, a 34 female/28 male ratio was observed with ages ranging from 9 days to 16 years, all but one patient had typical facial features. A diagnosis of congenital heart disease was established in 97% of the patients; other clinical characteristics were identified with different percentages such as cleft palate, and hypocalcaemia. Three cases had a familial presentation. While the clinical findings of this study were in general terms in keeping with the literature, it is interesting the unexpectedly high percentage of congenital heart disease identified in Mexican children with VCFS that also was the main cause for clinical referral. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

Cutaneous leishmaniasis in Syria: clinical features, current status and the effects of war.

PubMed

Hayani, Kinan; Dandashli, Anwar; Weisshaar, Elke

2015-01-01

Cutaneous leishmaniasis (CL) is a worldwide disease caused by an infection with the protozoan parasite Leishmania transmitted via sand flies. It is endemic in many of the poorest countries of all continents. "Aleppo boil" is one of the recognised names given to this disease in the medical literature. Although CL used to be well-controlled and well-documented in Syria, its incidence has dramatically increased since the beginning of the war; however, there is lack of documentation. Here, we present the past and current epidemiological situation of the disease in Syria. We also draw attention to gross and highly unusual clinical variants of CL presented to the Department of Dermatology in Aleppo covering the important differential clinical diagnoses, since this disease is already known to mimic other conditions. Diagnostic procedures and treatment as well as prevention are summarised. Due to the increased ability to travel, and especially the flight of Syrians to neighbouring countries, as well as to Europe, CL may become a new threat in formerly unaffected regions. Through this account, we hope to give weight to the aspiration that CL does not remain a neglected and often clinically overlooked tropical dermatosis.

Thyroid storm complicated by bicytopenia and disseminated intravascular coagulation.

PubMed

Tokushima, Yoshinori; Sakanishi, Yuta; Nagae, Kou; Tokushima, Midori; Tago, Masaki; Tomonaga, Motosuke; Yoshioka, Tsuneaki; Hyakutake, Masaki; Sugioka, Takashi; Yamashita, Shu-ichi

2014-07-24

Male, 23. Thyroid storm. Delirium • diarrhea • fever • hypertension • hyperventilation • tachycardia • weight loss. -. -. Endocrinology and Metabolic. Unusual clinical course. The clinical presentation of thyroid storm includes fever, tachycardia, hypertension, and neurological abnormalities. It is a serious condition with a high mortality rate. Furthermore, some other complications affect the clinical course of thyroid storm. Although it is reported that prognosis is poor when thyroid storm is complicated by disseminated intravascular coagulation syndrome (DIC) and leukopenia, reports of such cases are rare. A 23-year-old man presented with delirium, high pyrexia, diarrhea, and weight loss of 18 kg over 2 months. According to the criteria of Burch and Wartofsky, he was diagnosed with thyroid storm on the basis of his symptom-complex and laboratory data that confirmed the presence of hyperthyroidism. Investigations also found leukopenia, thrombocytopenia, and disseminated intravascular coagulation, all of which are very rare complications of thyroid storm. We successfully treated him with combined therapy including anti-thyroid medication, despite leukopenia. Early diagnosis and treatment are essential in ensuring a good outcome for patients with this rare combination of medical problems.

Atypical Clinical Presentation of Xeroderma Pigmentosum in a Patient Harboring a Novel Missense Mutation in the XPC Gene: The Importance of Clinical Suspicion.

PubMed

Meneses, Marina; Chavez-Bourgeois, Marion; Badenas, Celia; Villablanca, Salvador; Aguilera, Paula; Bennàssar, Antoni; Alos, Llucia; Puig, Susana; Malvehy, Josep; Carrera, Cristina

2015-01-01

Xeroderma pigmentosum (XP) is a genodermatosis caused by abnormal DNA repair. XP complementation group C (XPC) is the most frequent type in Mediterranean countries. We describe a case with a novel mutation in the XPC gene. A healthy Caucasian male patient was diagnosed with multiple primary melanomas. Digital follow-up and molecular studies were carried out. During digital follow-up 8 more additional melanomas were diagnosed. Molecular studies did not identify mutations in CDKN2A, CDK4 or MITF genes. Two heterozygous mutations in the XPC gene were detected: c.2287delC (p.Leu763Cysfs*4) frameshift and c.2212A>G (p.Thr738Ala) missense mutations. The p.Thr738Ala missense mutation has not been previously described. Missense mutations in the XPC gene may allow partial functionality that could explain this unusual late onset XP. Atypical clinical presentation of XPC could be misdiagnosed when genetic aberrations allow partial DNA repair capacity. © 2015 S. Karger AG, Basel.

Pediatric frontal mucocele secondary to a bifid frontal sinus septum.

PubMed

Plikaitis, Christina M; Purzycki, Adam R; Couture, Daniel; David, Lisa R

2010-09-01

A mucocele is a mucus-containing sac lined with epithelium that arises within a sinus when its drainage is compromised. The frontal sinus is the most common location, with frontal mucocele development occurring when the nasofrontal duct becomes obstructed because of polyps, bone tumors, prior surgery, sinusitis, trauma, or anatomic variation. We report an unusual case of a sterile pediatric frontal mucocele presenting as a slowly enlarging forehead mass due to a bifid frontal sinus septum. A 9-year-old girl presented to the craniofacial clinic for evaluation of a right frontal mass that had been slowly growing over the past year. She was otherwise healthy and had no history of previous trauma or sinus infections. Computed tomography (CT) scan results revealed a localized frontal fluid collection with protrusion and thinning of the anterior frontal bone between 2 midline bony septii. Surgical cranialization of the frontal sinus was performed. The anatomy of her lesion seen both on CT scan and intraoperatively likely explains this unusual case presentation. Instead of the usual inciting event of an intact frontal sinus drainage system becoming blocked, this patient seemed to have a primary developmental lack of any drainage system that led to her mucocele. During formation of her frontal sinus, she developed a bifid septum within the midline that excluded a portion of her frontal sinus from the lateral nasofrontal ducts. With mucus-producing epithelium trapped within these bony confines, pressure began to mount with expansion and thinning of the bone both anteriorly and posteriorly. The lack of any infectious symptoms and sterile culture results may support that this space developed primarily and was never in continuity with the external drainage system. Only 4 other patients have been reported with asymptomatic forehead swelling as the only presenting symptom, with the age ranging from 33 to 79 years. This patient represents the first clinical report of a congenital developmental mucocele.

The T1048I mutation in ATP7A gene causes an unusual Menkes disease presentation

PubMed Central

2012-01-01

Background The ATP7A gene encodes the ATP7A protein, which is a trans-Golgi network copper transporter expressed in the brain and other organs. Mutations in this gene cause disorders of copper metabolism, such as Menkes disease. Here we describe the novel and unusual mutation (p.T1048I) in the ATP7A gene of a child with Menkes disease. The mutation affects a conserved DKTGT1048 phosphorylation motif that is involved in the catalytic activity of ATP7A. We also describe the clinical course and the response to copper treatment in this patient. Case presentation An 11-month-old male Caucasian infant was studied because of hypotonia, ataxia and global developmental delay. The patient presented low levels of serum copper and ceruloplasmin, and was shown to be hemizygous for the p.T1048I mutation in ATP7A. The diagnosis was confirmed when the patient was 18 months old, and treatment with copper-histidinate (Cu-His) was started immediately. The patient showed some neurological improvement and he is currently 8 years old. Because the p.T1048I mutation affects its catalytic site, we expected a complete loss of functional ATP7A and a classical Menkes disease presentation. However, the clinical course of the patient was mild, and he responded to Cu-His treatment, which suggests that this mutation leads to partial conservation of the activity of ATP7A. Conclusion This case emphasizes the important correlation between genotype and phenotype in patients with Menkes disease. The prognosis in Menkes disease is associated with early detection, early initiation of treatment and with the preservation of some ATP7A activity, which is necessary for Cu-His treatment response. The description of this new mutation and the response of the patient to Cu-His treatment will contribute to the growing body of knowledge about treatment response in Menkes disease. PMID:22992316

Non-HIV-related Kaposi sarcoma in 2 Hispanic patients arising in the setting of chronic venous insufficiency.

PubMed

Que, Syril Kt; DeFelice, Taylor; Abdulla, Farah R; Cassarino, David; Patel, Rishi R

2015-06-01

Kaposi sarcoma (KS) is a vascular neoplasm associated with human herpesvirus 8 (HHV-8) infection that can be confused with the clinical and histological findings of chronic venous insufficiency. Definitive diagnosis of KS can only be achieved by performing a polymerase chain reaction for HHV-8 or by immunostaining for the HHV-8 antigen. We describe 2 unusual clinical presentations of KS in the setting of chronic venous insufficiency with clinical and histologic features consistent with stasis dermatitis but positive HHV-8 immunostaining. Both patients had no known risk factors for KS. We propose the possibility that these cases may represent a new clinical variant of KS that may become more prevalent over time. Further studies are needed to identify the risk factors involved. Meanwhile, skin biopsy with HHV-8 testing may be warranted for violaceous patches and plaques arising on the legs in the setting of chronic venous insufficiency, especially in patients who are unresponsive to treatment.

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

Osteomyelitis Caused by Moraxella osloensis

PubMed Central

Sugarman, Barrett; Clarridge, Jill

1982-01-01

Moraxella osloensis osteomyelitis of the femur developed in a paraplegic man. He responded to treatment with oral ampicillin. Disease in humans caused by this unusual clinical isolate is reviewed. PMID:7107844

Unusual Dermatoglyphic Findings Associated with Cytomegalic Inclusion Disease of Infancy—First Report and Practical Review

PubMed Central

Wright, Harry T.; Parker, Charles E.; Mavalwala, Jamshed

1972-01-01

Infection with the human cytomegalovirus has a teratogenic effect on the fetus during the first trimester of gestation as does rubella. Since unusual dermatoglyphic findings have been observed in infants with congenital rubella infection, the present study was designed to determine whether or not unusual dermatoglyphics occur in patients with cytomegalic inclusion disease of infancy. Analysis of dermatoglyphics in 15 infants with cytomegalic inclusion disease revealed unusual features in all infants. These features are reported here for the first time and are compared with dermatoglyphic findings in a normal population as well as with those of available parents of the infants. PMID:4335498

Veterans' Reactions to Release of American Hostages

PubMed Central

Pope, Frederick E.; Painter, Joel H.; Bergant, Carole

1983-01-01

Soon after the return of the hostages from Iran, the staff of the Mental Health Clinic of the Veterans Administration Outpatient Clinic, Santa Barbara, California, began noting an unusual association between veterans' feelings and the attention given the returning hostages. Of 100 veterans referred at random for diagnosis and treatment, not one had positive feelings about the reception given the returning hostages; 34 viewed the festivities and proclamations of welcome as excessive and unfair, and 12 expressed violent feelings toward the hostages, media people or members of the government. Of these 100 veterans, 52 expressed anxiety and excessive irritability, 41 were having psychic symptoms of depression and 38 reported sexual disturbances. This unusual form of stress had activated long-dormant feelings in veterans of four different wars and several generations. PMID:6858122

Majewski osteodysplastic primordial dwarfism type II (MOPD II): natural history and clinical findings.

PubMed

Hall, Judith G; Flora, Christina; Scott, Charles I; Pauli, Richard M; Tanaka, Kimi I

2004-09-15

A description of the clinical features of Majewski osteodysplastic primordial dwarfism type II (MOPD II) is presented based on 58 affected individuals (27 from the literature and 31 previously unreported cases). The remarkable features of MOPD II are: severe intrauterine growth retardation (IUGR), severe postnatal growth retardation; relatively proportionate head size at birth which progresses to true and disproportionate microcephaly; progressive disproportion of the short stature secondary to shortening of the distal and middle segments of the limbs; a progressive bony dysplasia with metaphyseal changes in the limbs; epiphyseal delay; progressive loose-jointedness with occasional dislocation or subluxation of the knees, radial heads, and hips; unusual facial features including a prominent nose, eyes which appear prominent in infancy and early childhood, ears which are proportionate, mildly dysplastic and usually missing the lobule; a high squeaky voice; abnormally, small, and often dysplastic or missing dentition; a pleasant, outgoing, sociable personality; and autosomal recessive inheritance. Far-sightedness, scoliosis, unusual pigmentation, and truncal obesity often develop with time. Some individuals seem to have increased susceptibility to infections. A number of affected individuals have developed dilation of the CNS arteries variously described as aneurysms and Moya Moya disease. These vascular changes can be life threatening, even in early years because of rupture, CNS hemorrhage, and strokes. There is variability between affected individuals even within the same family. Copyright 2004 Wiley-Liss, Inc.

Case Report of Myeloid Sarcoma Masquerading as In-Transit Metastasis at a Previous Melanoma Site: Avoiding a Diagnostic Pitfall.

PubMed

Curry, Jonathan L; Tetzlaff, Michael T; Wang, Sa A; Landon, Gene; Alouch, Nail; Patel, Sapna P; Nagarajan, Priyadharsini; Gupta, Shiva; Aung, Phyu P; Devine, Catherine E; Khoury, Joseph D; Loghavi, Sanam; Prieto, Victor G; DiNardo, Courtney D; Gershenwald, Jeffrey E

2018-06-01

Myeloid sarcoma is a rare extramedullary hematologic malignancy. Accurate and timely diagnosis may be challenging because myeloid sarcoma is known to mimic solid tumors, including hepatobiliary, nasopharyngeal, and breast carcinomas. We report a case of myeloid sarcoma that developed in the primary tumor lymphatic drainage field of a previously treated intermediate-thickness cutaneous melanoma, clinically and radiographically mimicking an in-transit metastasis, in a patient with myelodysplastic syndrome. The diagnosis of myeloid sarcoma was achieved after surgical excision of the mass and pathological examination that included extensive immunohistochemical studies. Awareness of such an unusual clinical presentation can help reduce diagnostic delay and ensure that adequate tissue is obtained for pathological examination and ancillary studies that are critical for accurate diagnosis and appropriate patient management.

Acute appendicitis with unusual dual pathology.

PubMed

Riddiough, Georgina E; Bhatti, Imran; Ratliff, David A

2012-01-01

Meckel's diverticulum is a rare congenital abnormality arising due to the persistence of the vitelline duct in 1-3% of the population. Clinical presentation is varied and includes rectal bleeding, intestinal obstruction, diverticulitis and ulceration; therefore diagnosis can be difficult. We report a case of acute appendicitis complicated by persistent post operative small bowel obstruction. Further surgical examination of the bowel revealed an non-inflamed, inverted Meckel's diverticulum causing intussusception. Intestinal obstruction in patients with Meckel's diverticulum may be caused by volvulus, intussusception or incarceration of the diverticulum into a hernia. Obstruction secondary to intussusception is relatively uncommon and frequently leads to a confusing and complicated clinical picture. Consideration of Meckel's diverticulum although a rare diagnosis is imperative and this case raises the question "should surgeons routinely examine the bowel for Meckel's diverticulum at laparoscopy?"

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.

[Ewing sarcoma located in the mandible: A case report].

PubMed

Hernandez, M; Droz, D; Mansuy, L; Simon, E; Chastagner, P

2015-06-01

Ewing sarcoma is the second most common primary malignant bone cancer in children and adolescents. Clinical presentation is usually dominated by local pain and a palpable mass. These symptoms justify imaging investigations: the first one, when an osseous lesion is suspected, is usually a conventional radiograph in two planes. Ewing sarcoma appears as a poorly defined osteolytic lesion that may frequently be associated with cortical erosion or laminar periosteal response ("onion skin"). However, this aspect is not pathognomonic and the definitive diagnosis is made by biopsy. Absence of pain or an unusual localization can lead to misdiagnosis. We report the case of a 7-year-old boy with Ewing sarcoma located in the mandible with a clinical picture including progressive mandibular swelling but no pain. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

[Extrinsic compression of the hepatocholedocus caused by cavernomatosis of the portal vein. Report of a case].

PubMed

Carpani, M; Guma, C I; Casal, M A

1982-01-01

The extrinsic compression of the hepatocholedochus by a cavernomatosis of the portal vein, is an unusual pathology. The present case begun clinically as an obstructive jaundice, assuming that the vascular origin of the compression increased the litiasic biliary disease. The percutaneous transhepatic cholangiography was the diagnostic method that suggested a double illness of the biliary system. The surgery and the pathology certificated the diagnosis. The correct treatment once confirmed the obstructive trial, must be: the extraction of the biliary gallstones and the bile-digestive derivation (preferently the hepatic-jejunum anastomosis in Y of Roux).

Constitutional trisomy 8 mosaicism syndrome: case report and review

PubMed Central

Udayakumar, Achandira M.; Al-Kindy, Adila

2013-01-01

Trisomy 8 mosaicism (Warkany syndrome) is a rare viable condition with variable phenotypes, ranging from mild dysmorphic features to severe malformations. Karyotyping and fluorescence in-situ hybridization potentially help detecting this low mosaic clone to confirm the diagnosis of patients with classical and unusual clinical presentations. This report reviews few previous cases to describe our case - a boy who had trisomy 8 mosaicism with severe dysmorphic features, born to a consanguineous Arabic couple. This study concludes that careful cytogenetic diagnoses of trisomy 8 mosaicism is essential for appropriate management and follow up of this rare disorder. PMID:27625859

Constitutional trisomy 8 mosaicism syndrome: case report and review.

PubMed

Udayakumar, Achandira M; Al-Kindy, Adila

2013-12-01

Trisomy 8 mosaicism (Warkany syndrome) is a rare viable condition with variable phenotypes, ranging from mild dysmorphic features to severe malformations. Karyotyping and fluorescence in-situ hybridization potentially help detecting this low mosaic clone to confirm the diagnosis of patients with classical and unusual clinical presentations. This report reviews few previous cases to describe our case - a boy who had trisomy 8 mosaicism with severe dysmorphic features, born to a consanguineous Arabic couple. This study concludes that careful cytogenetic diagnoses of trisomy 8 mosaicism is essential for appropriate management and follow up of this rare disorder.

Case report: transpalatal arch resulting in soft tissue damage of the tongue 3 years post-orthodontic treatment.

PubMed

Noar, Joe; Woods, Eva; Hodgson, Tim

2015-03-01

Whilst transient effects of orthodontic appliances on the oral mucosa are well recognized, chronic lesions, persisting post therapy are unusual. We describe a persistent lingual mucosal defect related to a transpalatal arch (TPA) in a healthy 19-year-old female. The asymptomatic lesion is presently being monitored, however, surgical revision in the future may be requested by the patient if the area fails to remodel. Clinical Relevance: Soft tissue trauma to the tongue by anchorage reinforcing appliances may result in long-term effects that could require surgical management.

A thrombus in transit through a patent foramen ovale.

PubMed

Ibebuogu, Uzoma N; Khouzam, Rami N; Sharma, Gyanendra; Thornton, John W; Robati, Roshanak; Silverman, David

2014-10-01

Patent foramen ovale (PFO) is a congenital heart defect that may first be diagnosed in adulthood and has a prevalence of 25% to 30%. Although many patients with PFO are asymptomatic and do not require treatment, paradoxical embolism can cause stroke or myocardial infarction. The authors report an unusual case of PFO with a transversing thrombus in an 80-year-old man. The patient's initial presentation appeared clinically as acute coronary syndrome, but he was subsequently diagnosed with a massive thrombus in transit via a PFO and pulmonary embolus leading to right-sided heart failure.

Familial erythrokeratodermia variabilis with pustular lesions: a new variant?

PubMed

Zhang, Li; Huo, Wei; Gao, Xing-Hua; Ma, Lei; Xiu, Yuhong; Zheng, Song; Hong, Yuziao; Chen, Hong-Duo

2010-05-01

We report here a Chinese family with erythrokeratodermia variabilis which had 30 affected members. The patients had characteristic clinical features of stationary and migratory lesions. Some of the patients had adult onset of the disease. Five out of 30 patients noted episodes of pustule-like lesions during their disease course. Histological examination of the proband showed granular cell vacuolation and upper-epidermal neutrophil aggregates. Mitochondria vacuolation was noted in keratinocytes by electron microscopic examination. No GJB3 and GJB4 pathogenic mutation was detected. These unusual presentations suggested a new phenotypic and genetic correlation in this Chinese pedigree of erythrokeratodermia variabilis.

Partial segmental thrombosis of the corpus cavernosum: imaging findings.

PubMed

Moya-Sánchez, E; Medina-Benítez, A; Medina-Salas, V; Fernández-Navarro, L

2018-03-05

Partial segmental thrombosis of the corpus cavernosum is an unusual clinical condition of unknown origin that mainly affects young males, whose characteristic presentation is the appearance of unexplained perineal pain associated with a palpable perineal mass. This entity consists of thrombosis in the perineal portion of the corpus cavernosum, usually unilateral and it is associated with underlying malignant pathologies and predisposing factors such as microtrauma. After the adequate adherence to conservative treatment, the appearance of complications such as erectile dysfunction is very uncommon. Copyright © 2018 SERAM. Publicado por Elsevier España, S.L.U. All rights reserved.

Alzheimer and his disease: a brief history.

PubMed

Cipriani, Gabriele; Dolciotti, Cristina; Picchi, Lucia; Bonuccelli, Ubaldo

2011-04-01

More than 100 years ago, Alois Alzheimer first described the clinical and pathological features of an unusual brain disease during the meeting of the Society of Southwest German Psychiatrists in Tübingen: the patient, Auguste Deter, suffered memory loss, disorientation, hallucinations and delusions and died at the age of 55. In 1910, Emil Kraepelin named the condition with the eponym of "Alzheimer's disease" (AD) that is, now, the most common neurodegenerative disease with more than 25 million cases worldwide and a major medical problem nearing catastrophic levels. The present article discusses Alzheimer's work in the context of his life and time.

An unusual case of folliculitis spinulosa decalvans.

PubMed

Fan, Wenge; Zhang, Qingsong; Song, Linyi

2016-09-01

We report the case of a 24-year-old man who presented with pustules, atrophic scars, and alopecia on the scalp, along with follicular keratotic papules on the cheeks, chest, abdomen, back, lateral upper arms, thighs, and axillae, of 6 years' duration. A diagnosis of folliculitis spinulosa decalvans (FSD) was made based on the clinical manifestation and histopathological findings. Dental examination also revealed dental anomalies and a fissured tongue, which are not known to be related to FSD. We provide an overview of the characteristic findings of FSD as well as a review of previously reported cases.

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.

Splenomegaly in the returning traveller: a diagnostic workup.

PubMed

Patel, Priya Umesh; Sastry, Padmini; Jawad, Muhammad

2017-01-11

Isolated splenomegaly is an unusual condition encompassing a broad range of diagnoses. We report a case of a 38-year-old Asian man who presented with insidious abdominal discomfort and night sweats following recent travel to India. Massive splenomegaly was the only prominent feature on clinical examination and on subsequent imaging. Extensive investigations were performed, ultimately resulting in transfer to a tertiary centre for definitive diagnosis via a splenic biopsy. A fine-needle aspiration was performed, and revealed diffuse large B-cell lymphoma (DLBCL). Consequently, he was successfully treated with a course of chemotherapy. 2017 BMJ Publishing Group Ltd.

Subclavian Artery Pseudoaneurysm in an Unusual Case of Digital Gangrene.

PubMed

Majhi, Bhuban; Pal, Nandita

2017-01-01

A young male patient presented at a tertiary care hospital with cold and bluish left upper limb accompanied with digital gangrene arousing suspicion of peripheral vascular disease. History did not reveal any high-risk behavior. Clinical examination and subsequent investigations lead to the diagnosis of acute infective endocarditis of native aortic valve along with peripheral embolism caused by methicillin-resistant Staphylococcus aureus . Fogarty's balloon embolectomy was done following which patient developed pseudoaneurysm of the left subclavian artery. These iatrogenic sequelae were managed with the resection of the pseudoaneurysm and prolonged antibiotic therapy as per the culture and sensitivity report.

Sporotrichosis in Rio de Janeiro, Brazil: Sporothrix brasiliensis Is Associated with Atypical Clinical Presentations

PubMed Central

Almeida-Paes, Rodrigo; de Oliveira, Manoel Marques Evangelista; Freitas, Dayvison Francis Saraiva; do Valle, Antônio Carlos Francesconi; Zancopé-Oliveira, Rosely Maria; Gutierrez-Galhardo, Maria Clara

2014-01-01

Background There have been several recent changes in the taxonomy of Sporothrix schenckii as well as new observations regarding the clinical aspects of sporotrichosis. In this study, we determined the identification of the Sporothrix species associated with both classic and unusual clinical aspects of sporotrichosis observed in the endemic area of sporotrichosis in Rio de Janeiro, Brazil. Methodology/Principal Findings To verify whether S. brasiliensis is associated with clinical manifestations of sporotrichosis, a cross-sectional study was performed in which Sporothrix isolates from 50 patients with different clinical manifestations were analyzed and their isolates were studied by phenotypic and genotypic methods. Data from these patients revealed a distinct clinical picture and therapeutic response in infections caused by Sporothrix brasiliensis (n = 45) compared to patients with S. schenckii sensu stricto (n = 5). S. brasiliensis was associated with disseminated cutaneous infection without underlying disease, hypersensitivity reactions, and mucosal infection, whereas patients with S. schenckii presented with less severe and more often localized disease, similar to the majority of previously described sporotrichosis cases. Interestingly, S. brasiliensis-infected patients overall required shorter durations of itraconazole (median 16 weeks) compared to the individuals with S. schenckii (median 24 weeks). Conclusions/Significance These findings suggest that Sporothrix species are linked to different clinical manifestations of sporotrichosis and that S. brasiliensis is effectively treated with oral itraconazole. PMID:25233227

Unusual Spread of Renal Cell Carcinoma to the Clivus with Cranial Nerve Deficit.

PubMed

Okudo, Jerome; Anusim, Nwabundo

2016-01-01

Renal cell carcinoma (RCC) has unusual presentation affecting elderly males with a smoking history. The incidence of RCC varies while the incidence of spread of RCC to the clivus is rare. The typicality of RCC presentation includes hematuria, flank pain, and a palpable flank mass; however, RCC can also present with clival metastasis. The unique path of the abducens nerve in the clivus makes it susceptible to damage in metastasis. We report a case of a 54-year-old African American female that was evaluated for back pain, weakness, numbness, and tingling of bilateral lower extremities and subsequently disconjugate gaze and diplopia. Brain MRI confirmed metastasis to the clivus. She was started on radiotherapy and was planned for chemotherapy and transfer to a nursing home. When a patient presents with sudden unusual cranial nerve pathology, the possibility of metastatic RCC should be sought.

Painless thyroiditis complicating with hypercalcemic encephalopathy.

PubMed

Thewjitcharoen, Yotsapon; Lumlertgul, Nuttha

2012-01-01

Severe hypercalcemia has rarely been reported in patients with hyperthyroidism. Although the pathogenesis is not clear; it is believed to be due to activation of osteoclasts resulting in excessive bone resorption. To recognize the unusual cause of hypercalcemia from painless thyroiditis, which could manifest with transient hyperthyroidism in the early stage. A 70-year-old woman presented with watery diarrhea, nausea and vomiting and significant weight loss for two months. Initially, she was misdiagnosed as having Graves'disease from her clinical presentation and thyroid function tests. Oral propylthiouracil was given to treat hyperthyroidism. However two weeks after discharge, she developed altered consciousness due to severe hypercalcemia. After combined treatment of hypercalcemia and severe hyperthyroidism, her symptoms resolved quickly. Later on, her thyroid function tests switched to subclinical hypothyroid at two months after initial presentation. No concurrent pathological conditions could be found to explain the other causes of hypercalcemia. Therefore, painless thyroiditis complicated with severe hypercalcemia was subsequently diagnosed based on her clinical course. Hypercalcemic encephalopathy is an uncommon manifestation of hyperthyroidism that should be kept in mind in patients who demonstrated clinical pictures of hyperthyroidism and alteration of consciousness. Moreover the present case emphasizes the consideration of painless thyroiditis as a differential diagnosis of hyperthyroidism because anti-thyroid medications were not indicated in this condition.

An unusual location of a papillary fibroelastoma.

PubMed

Bajaj, Sharad; Nandigam, Harish; Gupta, Nishant; Alkhouri, Yazan; Galldin, Lars M; Parikh, Nalini S; Patel, Nilesh; Shamoon, Fayez

2014-03-01

Papillary fibroelastomas are benign, avascular tumors and 90 % of them are attached to the cardiac valves. We present an unusual case, where papillary fibroelastoma was found attached to the interventricular septum, flopping in and out of the left ventricular outflow tract.

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.

Filarial abscess: Aspiration of adult gravid female worm from submandibular region, an unusual presentation.

PubMed

Afrose, Ruquiya; Alam, Mohammad Feroz; Ahmad, Syed Shamshad; Naim, Mohammed

2017-01-01

Microfilaria is a major public health problem in tropical and subtropical countries and is an endemic problem in India. Wuchereria bancrofti is the most common filarial infection. In some cases, microfilariae and adult filarial worm have been incidentally detected in fine-needle aspirates of various lesions; detection of microfilaria from subcutaneous site or from abscess site is even rarer. We here report an unusual case of Bancroftian microfilariasis in a 68-year-old female coming from endemic area presenting with right submandibular abscess. Our aim is to highlight the chances of finding microfilaria and adult worm in cytology of an unsuspected case at an unusual site.

Filarial abscess: Aspiration of adult gravid female worm from submandibular region, an unusual presentation

PubMed Central

Afrose, Ruquiya; Alam, Mohammad Feroz; Ahmad, Syed Shamshad; Naim, Mohammed

2017-01-01

Microfilaria is a major public health problem in tropical and subtropical countries and is an endemic problem in India. Wuchereria bancrofti is the most common filarial infection. In some cases, microfilariae and adult filarial worm have been incidentally detected in fine-needle aspirates of various lesions; detection of microfilaria from subcutaneous site or from abscess site is even rarer. We here report an unusual case of Bancroftian microfilariasis in a 68-year-old female coming from endemic area presenting with right submandibular abscess. Our aim is to highlight the chances of finding microfilaria and adult worm in cytology of an unsuspected case at an unusual site. PMID:28182103

An unusual case of posttrabeculectomy conjunctival granuloma.

PubMed

Choudhary, Samiksha; Sen, Swarnali; Gupta, Omprakash

2018-01-01

We report an unusual case of granulomatous inflammation that presented adjacent to bleb 3 weeks postoperatively after combined phacoemulsification and trabeculectomy surgery with mitomycin-C due to retained microfragments of methyl cellulose sponge. The commonly used antimetabolite delivery devices are made of cellulose. Methyl cellulose sponges are friable, and they are likely to leave behind microfragments in subconjunctival space. In our case, bleb integrity was maintained, unlike the earlier reported cases which presented with bleb leak. Hence, one should have high index of suspicion in unusual cases of postoperative inflammation not resolving conservatively. Although rare, retained sponge particles can be a cause of early bleb-related inflammation which can lead to bleb failure.

An unusual case of posttrabeculectomy conjunctival granuloma

PubMed Central

Choudhary, Samiksha; Sen, Swarnali; Gupta, Omprakash

2018-01-01

We report an unusual case of granulomatous inflammation that presented adjacent to bleb 3 weeks postoperatively after combined phacoemulsification and trabeculectomy surgery with mitomycin-C due to retained microfragments of methyl cellulose sponge. The commonly used antimetabolite delivery devices are made of cellulose. Methyl cellulose sponges are friable, and they are likely to leave behind microfragments in subconjunctival space. In our case, bleb integrity was maintained, unlike the earlier reported cases which presented with bleb leak. Hence, one should have high index of suspicion in unusual cases of postoperative inflammation not resolving conservatively. Although rare, retained sponge particles can be a cause of early bleb-related inflammation which can lead to bleb failure. PMID:29563697

[Atypical scurvy associated with anorexia nervosa].

PubMed

André, R; Gabrielli, A; Laffitte, E; Kherad, O

2017-02-01

Scurvy, or "Barlow's disease", is a widely described disease involving cutaneous and mucosal lesions resulting from vitamin C deficiency. Herein, we report a case of scurvy in a 48-year-old woman that was unusual in its atypical cutaneous-mucosal presentation as well as its association with anorexia nervosa. A 48-year-old woman treated for depression for several years was admitted to hospital for her impaired general state of health. Over the last year, she had presented palmoplantar rash and episodes of perimalleolar oedema. The clinical examination showed the patient to have wasting syndrome, with a BMI of 11.9kg/m 2 , lower-limb oedema, palmoplantar fissures, geographic tongue, telogen effluvium and purpuric petechiae on her right knee. However, no gingival bleeding was noted and there was no loss of tooth enamel. The remainder of the clinical examination was normal. Blood tests revealed extremely low vitamin C levels without any other associated deficiencies, as well as laboratory signs of cytolysis and anicteric cholestasis without inflammatory syndrome. The diagnosis of anorexia nervosa was made by psychiatrists, despite the unusual age of onset. Favorable clinical outcome was rapidly achieved via a one-month course of vitamin C supplements at a daily dose of 1g. The absence of classical buccal-dental symptoms and the presence of keratotic dermatosis with fissures and ulcers on the hands and feet are atypical in scurvy; however, this diagnosis was confirmed by the existence of purpura evoking capillary fragility, the patient's drastically low vitamin C level and the rapid subsidence of symptoms following treatment with oral vitamin C alone. Anorexia nervosa was doubtless the cause of deficiency. This situation is rare and a systematic review of the literature in Medline via PubMed showed that only three reports of scurvy associated with mental anorexia have been published since 1975. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

Calvarial bone cavernous hemangioma with intradural invasion: An unusual aggressive course-Case report and literature review.

PubMed

Nasi, Davide; Somma, Lucia di; Iacoangeli, Maurizio; Liverotti, Valentina; Zizzi, Antonio; Dobran, Mauro; Gladi, Maurizio; Scerrati, Massimo

2016-01-01

Cavernous hemangioma of the skull is a rare pathological diagnosis, accounting for 0.2% of bone tumors and 7% of skull tumors. Usually calvarial bone cavernous hemangioma are associated with a benign clinical course and, despite their enlargement and subsequent erosion of the surrounding bone, the inner table of the skull remains intact and the lesion is completely extracranial. The authors present the unique case of a huge left frontal bone cavernous malformation with intradural extension and brain compression determining a right hemiparesis. Calvarial cavernous hemangiomas are benign tumors. They arise from vessels in the diploic space and tend to involve the outer table of the skull with relative sparing of the inner table. More extensive involvement of the inner table and extradural space is very unusual and few cases are reported in literature. To the best of our knowledge, intradural invasion of calvarial hemangioma has not been previously reported. Our case highlights the possibility of an aggressive course of this rare benign pathology. Copyright © 2016 The Authors. Published by Elsevier Ltd.. All rights reserved.

Aetiology, incidence and morphology of the C-shaped root canal system and its impact on clinical endodontics

PubMed Central

Kato, A; Ziegler, A; Higuchi, N; Nakata, K; Nakamura, H; Ohno, N

2014-01-01

The C-shaped root canal constitutes an unusual root morphology that can be found primarily in mandibular second permanent molars. Due to the complexity of their structure, C-shaped root canal systems may complicate endodontic interventions. A thorough understanding of root canal morphology is therefore imperative for proper diagnosis and successful treatment. This review aims to summarize current knowledge regarding C-shaped roots and root canals, from basic morphology to advanced endodontic procedures. To this end, a systematic search was conducted using the MEDLINE, BIOSIS, Cochrane Library, EMBASE, Google Scholar, Web of Science, PLoS and BioMed Central databases, and many rarely cited articles were included. Furthermore, four interactive 3D models of extracted teeth are introduced that will allow for a better understanding of the complex C-shaped root canal morphology. In addition, the present publication includes an embedded best-practice video showing an exemplary root canal procedure on a tooth with a pronounced C-shaped root canal. The survey of this unusual structure concludes with a number of suggestions concerning future research efforts. PMID:24483229

An unusual case of cerebral penetrating injury by a driven bone fragment secondary to blunt head trauma.

PubMed

Lee, Jae Il; Ko, Jun Kyeung; Cha, Seung Heon; Han, In Ho

2011-12-01

Temple trauma that appears initially localized to the skin might possess intracranial complications. Early diagnosis and management of such complications are important, to avoid neurologic sequelae. Non-penetrating head injuries with intracranial hemorrhage caused by a driven bone fragment are extremely rare. A 53-year-old male was referred to our hospital because of intracerebral hemorrhage. He was a mechanic and one day before admission to a local clinic, tip of metallic rod hit his right temple while cutting the rod. Initial brain computed tomography (CT) and magnetic resonance imaging demonstrated scanty subdural hematoma at right temporal lobe and left falx and intracerebral hematoma at both frontal lobes. Facial CT with 3-D reconstruction images showed a small bony defect at the right sphenoid bone's greater wing and a small bone fragment at the left frontal lobe, crossing the falx. We present the unusual case of a temple trauma patient in whom a sphenoid bone fragment migrated from its origin upward, to the contralateral frontal lobe, producing hematoma along its trajectory.

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.

Intraductal fibroadenomatosis: an unusual variant of fibroadenoma.

PubMed

Chung, Alice; Scharre, Karen; Wilson, Matthew

2008-01-01

We present a case of a benign breast lesion that contains histopathologic characteristics of fibroadenoma, phyllodes tumor, intraductal adenoma and papilloma. This may represent an unusual variant of fibroadenoma that has not been described in the literature and its likelihood of recurrence is unknown.

Iatrogenic hypervitaminosis D as an unusual cause of persistent vomiting: a case report.

PubMed

Bansal, Rinkesh Kumar; Tyagi, Pankaj; Sharma, Praveen; Singla, Vikas; Arora, Veronica; Bansal, Naresh; Kumar, Ashish; Arora, Anil

2014-02-26

Vitamin D is increasingly recognized to have several beneficial effects. Vitamin D deficiency is widely prevalent. Physicians often treat patients with high doses of vitamin D for various ailments without any monitoring for adverse effects and the prescribed doses often far exceed requirements resulting in toxicity. We present here a classic case of iatrogenic hypervitaminosis D, which presented with persistent vomiting and acute renal failure. Here we present a case of a 45-year-old Asian Indian woman who presented to us with persistent vomiting the cause of which was iatrogenic hypervitaminosis D. She was treated with intravenous fluid, diuretics and calcitonin and had clinical improvement. We suggest that in any patient presenting with persistent vomiting and hypercalcemia, particularly in the presence of normal parathyroid hormone, a diagnosis of overdose of vitamin D should be suspected. Its treatment not only alleviates symptoms but also prevents ongoing acute kidney injury.

Unusual presentations of melanoma: melanoma of unknown primary site, melanoma arising in childhood, and melanoma arising in the eye and on mucosal surfaces.

PubMed

Sondak, Vernon K; Messina, Jane L

2014-10-01

Most melanomas present as primary tumors on the skin surface in adults; however, melanomas also arise in the eye and on the mucosal surfaces or present as apparently metastatic disease without any known history of a cutaneous primary. Melanoma is also being diagnosed during childhood more frequently than ever. Surgeons need to be aware of and understand these unusual presentations of melanoma to optimally manage their patients. Copyright © 2014 Elsevier Inc. All rights reserved.

Mycobacterium Tuberculosis Pyomyositis in an Infant

PubMed Central

Malik, ZA; Shehab, M

2013-01-01

Mycobacterium tuberculosis is endemic to many parts of the world. It may have variable clinical presentations, especially in the pediatric age group. Presented here is the case of a 9-month old infant who was referred for infectious disease opinion when his thigh induration failed to improve after surgical drainage and a course of oral antibiotic therapy. Mycobacterial PCR on the operative sample fluid was found to be positive; and mycobacterial culture grew M. tuberculosis. He received 9 months of treatment with anti-TB medications, with excellent results and complete recovery. This is the first report of TB pyomyositis in an infant; and highlights the need to have a high index of suspicion for unusual organisms when conventional therapy fails to demonstrate expected results. PMID:23919207

Mycobacterium tuberculosis pyomyositis in an infant.

PubMed

Malik, Za; Shehab, M

2013-04-01

Mycobacterium tuberculosis is endemic to many parts of the world. It may have variable clinical presentations, especially in the pediatric age group. Presented here is the case of a 9-month old infant who was referred for infectious disease opinion when his thigh induration failed to improve after surgical drainage and a course of oral antibiotic therapy. Mycobacterial PCR on the operative sample fluid was found to be positive; and mycobacterial culture grew M. tuberculosis. He received 9 months of treatment with anti-TB medications, with excellent results and complete recovery. This is the first report of TB pyomyositis in an infant; and highlights the need to have a high index of suspicion for unusual organisms when conventional therapy fails to demonstrate expected results.

Bilateral vocal cord paralysis and hypothyroidism as presenting symptoms of Williams-Beuren syndrome: a case report.

PubMed

Koren, Ilana; Kessel, Ira; Rotschild, Avi; Cohen-Kerem, Raanan

2015-09-01

Williams-Beuren syndrome is a rare neurodevelopmental disorder caused by deletion of 1.5-1.8Mb genes on chromosome 7q11.23. The syndrome was first described as a triad of supra-valvular aortic stenosis, mental retardation, and distinctive facial features. Our patient was referred due to audible inspiratory stridor when he was seven days old. Following endoscopy he was diagnosed with bilateral vocal cord paralysis and was eventually intubated due to respiratory de-compensation followed by tracheotomy. On further workup he was diagnosed with hypothyroidism. Genetic workup supported the diagnosis of Williams-Beuren syndrome. We report here a case with an unusual clinical presentation. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

Aorta-Left Renal Vein Fistula Complicating an Aortic Aneurysm: Preoperative and Postoperative Multislice CT Findings

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

Barrier, Pierre, E-mail: p.barrier@gmail.com; Otal, Philippe; Garcia, Olivier

Fistulas complicating an abdominal aortic aneurysm (AAA) are rare, and fistulas involving the left renal vein are particularly uncommon. We highlight here a fistula between an infrarenal aortic aneurysm and a retroaortic left renal vein, revealed by left flank pain associated with hematuria and acute renal failure. The multislice CT angiography performed in this 68-year-old patient revealed communication and equal enhancement between the aorta and the left gonadic vein, suggesting the presence of a fistula. The three-dimensional VRT reconstructions presented in this case were of great value in the preoperative planning, enabling immediate visualization of this unusual feature. Alternative diagnosesmore » to consider when encountering this clinical presentation are reviewed.« less

[Parotid involvement in Churg-Strauss syndrome].

PubMed

Bonnet, R; Bertin, H; Delemazure, A S; Clairand, R; Mercier, J; Corre, P

2014-06-01

Churg-Strauss syndrome is a rare systemic vascularitis. This disease causes eosinophilic tissue infiltration. The most frequent manifestations are cortico-dependent asthma, mono- or polyneuropathy, paranasal sinus polyposis, and digestive and renal dysfunction. Salivary glands are very rarely involved. We describe a case of CSS in a patient presenting with bilateral parotid swelling. The morphological study of salivary glands revealed an unusual thickening of the salivary duct walls. Salivary gland involvement in Churg and Strauss syndrome can be difficult to demonstrate histologically; it does not usually present in the clinical foreground of the disease, and can be a source of misdiagnosis. The biopsy should be performed in the symptomatic gland, away from any previous corticoid treatment. Copyright © 2014 Elsevier Masson SAS. All rights reserved.

A young man with polyuria and lethargy.

PubMed

Imtiaz, Salman; Qayyum, Shahid; Kafouri, Hala; Al Khoiter, Mohammad; Askar, Akram

2011-07-01

We report a 20-year-old man who presented to our emergency room with a history of polyuria, weakness, constipation, nausea, and vomiting of two months duration. History and clinical examination revealed a significant weight loss and mild hepatomegaly. Laboratory investigations revealed hypokalemia, hypernatremia, and severe metabolic acidosis and anemia. Ultra-sound of the abdomen revealed enlarged kidneys without hydronerphrosis. The patient developed paralysis due to further decline in serum potassium level, which improved after an aggressive fluid and electrolyte management. He was investigated extensively for polyuria and type of acidosis. The kidney biopsy showed interstitial leukemic infiltration. He was managed accordingly and recovered from the condition. This case demonstrates an unusual presentation of a hematological malignancy, which was a diagnostic as well as a management challenge.

Occlusion of the artery of Percheron: an unusual cause of bilateral stroke.

PubMed

Anderson, Clare; O'Brien, Richard

2012-11-19

The artery of Percheron is a rare anatomical variant whereby a single vessel arising from the proximal segment of one posterior cerebral artery supplies both medial thalami. This is a rare example of a single arterial supply to brain structures on both sides of the midline. Occlusion of the artery of Percheron results in bilateral medial thalamic infarction, which is manifest clinically as gaze paresis, cognitive disturbance and altered consciousness. The presentation can mimic subarachnoid haemorrhage, drug intoxication, encephalitis and other inflammatory or infective conditions. The presentation is similar to the 'top of the basilar syndrome' and early recognition should prompt further investigation for underlying stroke aetiologies and consideration can be given to thrombolysis if vascular occlusion can be confirmed.

Bilateral nanophthalmos and pigmentary retinal dystrophy--an unusual syndrome.

PubMed

Proença, Helena; Castanheira-Dinis, A; Monteiro-Grillo, M

2006-09-01

To report the clinical picture of the rare association of nanophthalmos and pigmentary retinal dystrophy and its cataract surgery outcome. We report a case of a 60-year-old female who presented with bilateral slowly progressive visual loss. The patient presented with bilateral light perception visual acuity, exotropia, brunescent cataract hindering fundus examination and hypodontia. Ultrasonography revealed bilateral nanophthalmos. A visual-evoked potential was also performed preoperatively. Cataract surgery with +40D IOL implantation was uneventful. Postoperative fundus examination revealed pigmentary retinal dystrophy, confirmed by electrophysiologic tests. Glycosaminoglycan urinary excretion was normal. Congenital bilateral nanophthalmos may rarely be associated with pigmentary retinal dystrophy. We suggest thorough preoperative evaluation in nanophthalmic eyes for the exclusion of significant features concerning visual prognosis.

An Unusual Presentation of Addison's Disease-A Case Report.

PubMed

Choudhary, Sandeep; Alam, Anwer; Dewan, Vivek; Yadav, Dinesh; Dubey, N K

2011-07-01

Addison's disease is most commonly due to autoimmune adrenalitis and tuberculosis and refers to primary hypoadrenalism caused by a total or near total destruction or dysfunction of both adrenal cortices. Usual manifestations involve chronic fatigue, muscle weakness, loss of appetite, nausea, vomiting, diarrhea, hypotension and hyperpigmentation of skin. We herein report a case of primary adrenal insufficiency presenting with fever and seizures in an 11-yr-old boy. His symptoms resolved after starting specific therapy. This kind of presentation of Addison's disease is rather unusual.

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.

An Unusual Complication of EVAR, Spontaneous Rectus Sheath Hematoma: A Case Report

PubMed Central

Sirivanichai, Chusak

2009-01-01

Objective: To report a successful conservative management in a case of spontaneous rectus sheath hematoma (SRSH) after Endovascular Aneurysmal Repair (EVAR) of infrarenal Abdominal Aortic Aneurysm (AAA). Case Presentation: An 84-year-old woman with a 6 cm in diameter infrarenal AAA underwent EVAR at our hospital. During the procedure, intravenous heparin was administered to keep the activated clotting time around 300 seconds. One hour after the procedure, the patient complained of pain on her right side abdomen. Physical examination revealed a tender mass in the right lower abdominal wall. Laboratory studies showed a fall in hemoglobin from 12.7 g/dl to 9.3 g/dl. Ultrasound (US) examination demonstrated an 8 × 5 cm hematoma within the right rectus muscle. Follow-up US examination revealed that the hematoma had enlarged and a computed tomography (CT) examination of the lower abdomen was performed. CT scan showed a smooth-shaped mass within the layers of the anterolateral abdominal wall leading to enlargement of the right rectus abdominis muscle without signs of active bleeding. A conservative management was considered. Result: The clinical course was uneventful with a stable hemodynamic state. The patient was discharged 12 days later and was doing well at the 2 week follow-up. Conclusion: Spontaneous rectus sheath hematoma is an unusual complication of a patient on anticoagulant therapy during EVAR. A prompt radiological investigation may prevent unnecessary surgical procedures in this unusual complication. PMID:23555371

Kidney fibroxanthoma (malignant fibrous xanthoma): a rare tumor and an unusual cause of retroperitoneal hemorrhage.

PubMed

Witz, M; Bernheim, J; Dinbar, A; Griffel, B

1984-06-01

A case of kidney fibroxanthoma (malignant fibrous xanthoma, malignant variant of xanthogranuloma), a rare malignant neoplasm of kidney, is described. In addition to the typical histologic features of retroperitoneal xanthogranuloma, this tumor showed obvious pleomorphism and mitotic activity of the histiocytes. We present this case in view of the rarity of this neoplasm and the unusual presentation as massive retroperitoneal hemorrhage.

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.

Intramuscular Dirofilariasis Mimicking an Orbital Metastasis in a Patient with Breast Cancer

PubMed Central

Henderson, Brett M.; Hunt, Christopher H.; Eckel, Laurence J.; Schwartz, Kara M.; Diehn, Felix E.; Pritt, Bobbi S.; Schembri Wismayer, David J.; Garrity, James A.

2012-01-01

We present the unusual case of a 74 year-old female with a history of breast cancer who presented with acute painless orbital swelling and vertical diplopia. MRI revealed a focal enhancing mass within the superior rectus muscle. As the concern for metastatic disease was high, surgical biopsy was performed and revealed an unusual mimicker of metastatic disease, the parasitic infection dirofilariasis. PMID:23008795

Unusual blunt force wound produced by a gun muzzle.

PubMed

Hanzlick, R; Zaki, S A

1986-09-01

Most blunt force injuries produced by guns are associated with gun butts, and patterned, muzzle/sight impressions are usually produced by discharging firearms. An unusual and distinct forehead laceration produced by a blow with the muzzle end of a .32 caliber revolver is presented.

Glycogen storage disease type III in Israel: presentation and long-term outcome.

PubMed

Hershkovitz, Eli; Forschner, Itay; Mandel, Hanna; Spiegel, Ronen; Lerman-Sagie, Tally; Anikster, Yair; Zeharia, A; Moses, Shimon

2014-03-01

Glycogen storage disease type III (GSD III) was found in the past with an unusual frequency among North African Jews in Israel. The aim of this study was to review the long-term clinical course of GSD III's patients in Israel. Relevant pediatric and adult clinical units of all Israeli hospitals were approached to report on their GSD III patients. 21 (14 M/7F) live patients were located. The average age of the patients was nearly twenty years. Eleven patients were older than 18 years of age. 76% of the patients were of Jewish North African origin, 14% of Jewish European origin, and 10% were Arab Muslims. The symptoms at presentation were fasting, hypoglycemia, hepatomegaly slight hypotonia in infancy and delayed growth. Although in most of the patients their signs and symptoms ameliorated after childhood, significant complications were observed in some 20% of the patients. Consequently, a life long follow up of GSD-III patients is required.

Granulomatosis with polyangiitis mimicking infective endocarditis in an adolescent male.

PubMed

Varnier, Giulia Camilla; Sebire, Neil; Christov, Georgi; Eleftheriou, Despina; Brogan, Paul A

2016-09-01

Granulomatosis with polyangiitis (GPA) is a rare but serious small vessel vasculitis with heterogeneous clinical presentation ranging from mainly localised disease with a chronic course, to a florid, acute small vessel vasculitic form characterised by severe pulmonary haemorrhage and/or rapidly progressive vasculitis or other severe systemic vasculitic manifestations. Cardiac involvement is, however, uncommon in the paediatric population. We report a case of a 16-year-old male who presented with peripheral gangrene and vegetation with unusual location on the supporting apparatus of the tricuspid valve, initially considered to have infective endocarditis but ultimately diagnosed with GPA. We provide an overview of the limited literature relating to cardiac involvement in GPA, and the diagnostic challenge relating to infective endocarditis in this context, especially focusing on the interpretation of the antineutrophil cytoplasmic antibody (ANCA) and the characteristic clinical features to identify in order to promptly recognise GPA, since timely diagnosis and treatment are essential for this potentially life-threatening condition.

Acute coronary syndrome-like presentation with prolonged QT interval: an unusual case of pheochromocytoma.

PubMed

Ozyuncu, Nil; Akturk, Sevinc; Tan Kurklu, Turkan Seda; Erol, Cetin

2016-09-26

Pheochromocytoma is a rare adrenal gland tumour, usually alerting the physician by causing hypertensive tachycardic attacks. Patients with pheochromocytoma can rarely present with clinical signs similar to acute coronary syndrome. QT interval prolongation and ST segment changes due to pheochromocytoma have also been reported in the literature in a few case reports. We report a patient who had been admitted to the emergency department with chest pain, ischaemic ECG changes and marked QT prolongation. Despite a normal coronary angiogram, we observed that the QT interval and ST segment morphologies had changed during the hospitalisation period. Adrenal adenoma was diagnosed incidentally on abdominal CT scan, and the final diagnosis was pheochromocytoma. The tumour was successfully excised and the patient is now symptom free. When there is lack of a typical clinical picture, the diagnosis of pheochromocytoma might be challenging. It is also very crucial, since misdiagnosis can be life-threatening. 2016 BMJ Publishing Group Ltd.

Pulmonary fibrosis secondary to siderosis causing symptomatic respiratory disease: a case report.

PubMed

McCormick, Liam M; Goddard, Martin; Mahadeva, Ravi

2008-08-05

Pulmonary siderosis secondary to the inhalation of iron compounds is a rare condition which, despite striking radiological and histopathological features, has not traditionally been associated with symptoms or functional impairment. Although not the first of its kind, we present an unusual case of pulmonary siderosis with symptomatic respiratory disease, most likely secondary to associated fibrosis. A 66-year-old Caucasian man was referred to the outpatient clinic with a 2-year history of exertional breathlessness. He had worked as an engineer for 20 years where he did a significant amount of welding but always wore a face shield. Clinical, radiological and histological features were consistent with a diagnosis of pulmonary siderosis, with associated fibrosis, most likely related to his occupational welding history. Our report illustrates that symptomatic respiratory disease due to mild peribronchiolar fibrosis can occur with pulmonary siderosis despite wearing a mask. Furthermore, it reinforces the need for all clinicians to compile a detailed occupational history in individuals presenting with breathlessness.

Pretibial Located Stewart-Treves Syndrome: Uncommon Presentation in a Bulgarian Patient!

PubMed

Tchernev, Georgi; Yungareva, Irina; Mangarov, Hristo; Stavrov, Konstantin; Lozev, Ilia; Temelkova, Ivanka; Chernin, Svetoslav; Pidakev, Ivan; Tronnier, Michael

2018-04-15

The Stewart-Treves syndrome with localisation in the region of the lower extremities is not something unusual as clinical pathology, but the clinical diagnostics is rather difficult, and it can be further complicated maximally because of: the similar locoregional findings in patients with other cutaneous malignancies. Presented is a rare form of an epithelioid variant of the Stewart Treves syndrome in a woman, aged 81, localised in the region of the lower leg and significantly advanced only for 2 months. The diagnosis was confirmed histologically and immunohistochemically. Amputation of the affected extremity was planned. Discussed are important etiopathogenetic aspects regarding the approach in patients with lymphedema and possibility for development of the Stewart Treves syndrome. Analyzing the evidence from the literature worldwide, we concluded that perhaps the only reliable (to some extent) therapeutic option in patients with Stewart Treves Syndrome is 1) the early diagnostics and 2) the following inevitable radical excision or amputation with the maximal field of surgical security in the proximal direction.

Small Bowel Perforations by Metallic Grill Brush Bristles: Clinical Presentations and Opportunity for Prevention.

PubMed

Sordo, Salvador; Holloway, Travis L; Woodard, Russell L; Conway, Bruce E; Liao, Lillian F; Eastridge, Brian J; Myers, John G; Stewart, Ronald M; Dent, Daniel L

2016-05-01

Increasing reports on the incidental ingestion of metallic bristles from barbeque grill cleaning brushes have been reported. We sought to describe the clinical presentation and grilling habits of patients presenting after ingesting metallic bristles in an attempt to identify risk factors. We performed a chart review of six patients with documented enteric injury from metallic bristles. Subjects were contacted and administered a survey focused on the events surrounding the bristle ingestion. We arranged for in-home visits to inspect the grill and grill brush whenever possible. Of the six subjects identified, three (50%) were male, five (83%) were white, and they ranged in age from 18 to 65 years (mean 42.5). All complained of abdominal pain. All bristles were identified by CT scan. Three patients underwent laparoscopic enterorrhaphy, and two underwent laparotomy. The remaining patients did not require intervention. None had replaced their grill brush in at least two years. Surgeon's awareness of this unusual injury is important to identify and manage this problem. Alternative methods to clean the grill should be sought and grill brushes should be replaced at least every two years.

Hashimoto's Encephalopathy Presenting with Unusual Behavioural Disturbances in an Adolescent Girl

PubMed Central

Subashini, Viswanath; Balakrishnan, Ramasamy

2017-01-01

Hashimoto's encephalopathy (HE) is a rare autoimmune disorder with neurological and neuropsychiatric manifestations and elevated titres of anti-thyroid antibodies. Here we are reporting a case of HE in a 19-year-old girl who presented with seizure-like episodes, confusion, and behavioural disturbances with catatonic symptoms such as posturing, echopraxia, echolalia, and ambivalence. Patient did not respond to antipsychotics and anticonvulsants. On further investigation, patient was found to have high serum anti-TPO antibodies of about 1261 U/mL with euthyroid status, which supported a suspicion of HE. Our consultant neurologist confirmed the diagnosis and she was started on injection of methylprednisolone 750 mg OD. Since patient started showing clinical improvement, her antipsychotic medications were tapered off. On follow-up, patient has recovered and is functioning well. Since HE is a diagnosis of exclusion, very high anti-TPO antibodies and good response to steroids supported the diagnosis of HE in this patient after excluding other etiological possibilities. This case has been reported because the clinical presentation was predominantly neurobehavioural manifestations which is uncommon with HE. PMID:28607558

An unusual presentation of osteogenesis imperfecta type I

PubMed Central

Rebelo, Marta; Lima, Jandira; Vieira, José Diniz; Costa, José Nascimento

2011-01-01

Osteogenesis imperfecta (OI) is a rare inherited disorder with a broad spectrum of clinical and genetic variability. The genetic diversity involves, in the majority of the cases, mutations in one of the genes that encodes the type 1 collagen protein (COL1 A1 and COL1 A2), but it is not a requirement for the diagnosis. The most benign form is OI type I. The authors present a case report of a 25-year-old woman who had severe low back pain associated with incapacity to walk and breast-feed post-partum. Symptoms developed 2 weeks after delivery. The radiological examination revealed severe osteoporosis with no abnormalities in the laboratory findings. The clinical signs and a positive personal and family history of multiple fractures in childhood suggested OI type I, although other diagnosis, such as pregnancy-associated osteoporosis, was also considered. The atypical presentation of this rare disorder in adulthood calls attention to the need for early diagnosis for prompt treatment. Treatment of OI is never curative, but it improves the quality of the patient’s life. PMID:23754901

Non-Hodgkin's lymphoma is a pathological lead point causing large gut (colo-colic varity) intussusception.

PubMed

Saha, N; Ferdous, K N; Rahman, M A; Islam, M K

2012-04-01

Intussusception secondary to Primary Non-Hodgkin lymphoma presenting colo-colic variety is a very rare clinical entity and sometimes causing diagnostic dilemma due to non-specific, varied & wide spectrum presentation. In this study, a 9 years female child presented with recurrent, intermittent, colicky abdominal pain with occasional bilious vomiting, along with a left illiac fossa swelling & occasional per rectal bleeding and constipation for 3 months was clinically diagnosed as a case of recurrent obstructing intussusception. At laparotomy, a colo-colic intussusception with prolapsed intussusception was marked & finally on histopathology, she was diagnosed as a case of colo-colic variety of intussusception due to primary Non-Hodgkin lymphoma- a pathological lead point in mid transverse colon. After uneventful recovery of post operative period she was treated with combination chemotherapy accordingly & follow up was given up to 5 years. She had been found alright without any recurrence or organ involvement. The study focused on the avoidance of unusual delay in diagnosis as well as in proper management of rare variants of intussusception.

Interesting and unusual clinical presentations in leprosy at a referral center.

PubMed

Tayshetye, Pritam U; Pai, Vivek V; Khanolkar, Subhash A; Rathod, Vikram; Ganapati, Ramaswamy

2013-10-01

Leprosy is a disease of declining global endemicity but is still an important health-care problem in India. Pure neural leprosy is an important subset of presentations of leprosy in India. Leprosy is a known disease of the skin and nerves, but cases of pure neural involvement are relatively less. We hereby present 10 cases of pure neural leprosy in which the diagnosis of leprosy was difficult with routine methods. The study was conducted at the main referral center and satellite clinics of our organization. A retrospective analysis of patient records for the last four years was undertaken to identify patients presenting with predominantly neurological manifestations and uncommon presentations including those without skin lesions. The medical records of the patients were used as source of data. All the patients were subjected to a detailed clinical examination and bacteriological examination with slit-skin smears. Investigations like nerve biopsy, electromyography, and nerve conduction studies were done in patients with diagnostic difficulties. Patients presented with neurological symptoms like paresthesias (60%), diminished sensations (40%), nonhealing ulcers (30%), and blisters (20%). All except one had thickened nerves on clinical examination. Slit-skin smear was negative in all but one patient. Nerve biopsy confirmed the diagnosis of leprosy in seven cases. Pure neural leprosy is difficult to diagnose with routine methods. The diagnosis should be considered, especially by neurologists and dermatologists, who are more likely to see such patients with predominant neural manifestations. The diagnosis should be confirmed with nerve biopsy to prevent delay in therapy and associated complications.

A neo-sex-chromosome that drives post-zygotic sex determiniation in the Hessian fly

USDA-ARS?s Scientific Manuscript database

Two nonoverlapping autosomal inversions defined unusual neo-sex chromosomes in the Hessian fly (Mayetiola destructor). Like other neo-sex chromosomes, these were normally heterozygous, present only in one sex, and suppressed recombination around a sex-determining master switch. Their unusual propert...

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

Unilateral facial palsy in an infant: an unusual presentation of familial multiple cerebral cavernous malformation

PubMed Central

Zakaria, Zaitun; Kaliaperumal, Chandrasekaran; Caird, John; Sattar, Mohammad

2012-01-01

Cerebral cavernous malformation (CCM) in infants tends to have genetic predisposition. These cavernomas have a progressive course of events and associated neurological symptoms with increase in age. They most commonly present with seizure and syndrome of increased intracranial pressure comprising of headache, vomiting and focal neurological signs. We describe a case of a 7-month-old infant who presented with an acute onset of right facial paralysis with a background of familial CCM. The CT and MRI scan revealed fresh haemorrhage in the right cerebellar and pontine cavernomas with surrounding oedema and no evidence of obstructive hydrocephalus. These two cavernomas re-bled in a week duration causing episodes of incessant crying and irritability. After discussing the pros and cons of treatment, owing to stable clinical status, the patient is currently been managed conservatively. PMID:23203183

Gynaecomastia: an unusual presenting symptom of bladder cancer.

PubMed

Ahmed, Mashrafi; Kanji, Aleem; Begum, Tahmina

2015-06-25

A 74-year-old man presented to the outpatient clinic with painful gynaecomastia. A detailed physical examination to sort out possible causes of the gynaecomastia, including intracranial tumour, liver cirrhosis, hyperthyroidism, and adrenal and testicular tumour, was negative. No offending agent was found in his medication list. A CT scan of the head and ultrasound of the scrotum did not show any mass lesion. His serum β-human chorionic gonadotropin (β-hCG) and oestradiol levels were elevated. A CT scan of the abdomen and pelvis revealed bladder wall thickening with soft tissue mass. A cystoscopic biopsy confirmed transitional cell carcinoma with muscle invasion. The patient was started on chemotherapy but responded poorly. This case report describes the β-hCG and oestradiol-secreting transitional cell carcinoma of the bladder presenting as gynaecomastia in an older man. 2015 BMJ Publishing Group Ltd.

Massive periosteal reaction a presenting feature of acute megakaryocytic leukemia.

PubMed

Ueda, Takahiro; Ito, Yasuhiko; Maeda, Miho; Fukunaga, Yoshitaka

2007-12-01

Acute megakaryoblastic leukemia (AML M7) is a biologically heterogeneous form of acute myeloid leukemia accounting for 14.6% of cases. In many instances in the past, AML M7 has been classified as undifferentiated leukemia, myelodysplasia, myelofibrosis or some other disease because of its complex clinical presentation or the difficulty of obtaining and interpreting bone marrow samples. However, with currently available morphological, cytochemical, cytogenetic and immunophenotypic methods, AML M7 can now be reliably diagnosed. Although the radiographic spectrum of bony changes in leukemia have been well characterized, skeletal X-ray abnormalities in the setting of AML M7 in pediatric patients have been described in few reports that were associated with bone marrow fibrosis. Here we report on a 14-month-old girl who presented with a massive periosteal reaction of the extremities and clavicles associated with myelofibrosis, a presenting feature of AML M7. The bone changes were very unusual in this case.

Secondary syphilis presenting as leucoderma syphiliticum: case report and review.

PubMed

Eyer-Silva, Walter de Araujo; Martins, Carlos José; Silva, Guilherme Almeida Rosa da; Acakpovi, Giresse; Pinto, Jorge Francisco da Cunha

2017-11-06

Leucoderma syphiliticum (LS), originally described as syphilide pigmentaire, encompasses a spectrum of dyschromic lesions that emerge during the course of secondary syphilis. Very few case reports are available in modern biomedical databases. We present the case of a 57-year-old HIV-infected male patient who presented with several round to oval, non-scaling, slightly raised and well-demarcated hypochromic lesions scattered over the trunk, abdomen, dorsum, and arms. Prior non-treponemal tests were negative for syphilis, but novel studies yielded positive results at high titers. Skin lesions slowly regressed and the hypochromic areas repigmented a few weeks after benzathine penicillin G treatment. This is the first report of LS in an HIV-infected patient. A review of modern and ancient literature was performed. The present case report emphasizes the need for clinicians to have a heightened awareness of the varied and unusual clinical phenotypes of syphilis.

Primary epidermoid carcinoma of the breast presenting as a breast abscess and sepsis.

PubMed

Damin, Andrea Pires; Nascimento, Fernanda Costa; Andreola, João Batista; Cerutti, Talita Haubert; Roehe, Adriana; Damin, Daniel Carvalho

2011-12-01

Squamous cell carcinoma (SCC) of the breast is an extremely rare form of cancer, accounting for approximately 0.04% of all malignant breast tumors. To date, only a limited number of cases of SCC of the breast have been reported, and most of them presented like the usual breast carcinomas. A 39-year-old woman presented with a large breast abscess and signs of sepsis. After surgical debridement of the lesion, histopathological examination of the abscess capsule revealed the presence of SCC of the breast. The definitive treatment for the tumor consisted of modified radical mastectomy with resection of the residual lesion in the right breast. This unusual case illustrates how an apparently benign disorder such as a breast abscess might be related to a clinically occult malignancy. A review of the literature on SCC of the breast is presented.

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.

Unusual ocular clinical manifestation of leptospirosis.

PubMed

Asensio-Sánchez, V M; Haro-Álvarez, B; Herreras, J; Martín-Prieto, A

2018-02-01

An uncommon case is presented of a 15 year-old girl with bilateral, multiple serous detachments of retina and retinal pigment epithelium. With clinical and laboratory (IgG 1/160 and IgM 1/160, using an indirect immunofluorescence assay) diagnoses of leptospirosis, a complete ophthalmic examination, fluorescein angiography, autofluorescence and optical coherence tomography were performed, and the patient was followed for two years. Bilateral, multiple serous detachments of retina and retinal pigment epithelium can be a complication of systemic leptospirosis, a zoonotic disease caused by Leptospira. Without a detailed medical history it may be underdiagnosed, mainly because it can mimic other more common diseases. It may be prudent to ask patients regarding contact with pets. Copyright © 2018 Sociedad Española de Oftalmología. Publicado por Elsevier España, S.L.U. All rights reserved.

Primary Sjögren's syndrome and bronchiolitis. An unusual association.

PubMed

Medina-Paz, Lourdes; Che-Morales, José Luis; Alonso Moshe Barrera-Pérez, Hirian; Cortes-Telles, Arturo

2017-03-03

Sjögren's syndrome (SS) is a systemic autoimmune disease that mainly affects the exocrine glands. It has been reported that the association between SS and respiratory involvement occurs in 11% and 45% of cases, and can be the initial manifestation of the disease. The diagnosis is based on the integration of clinical, immunological and histopathological criteria. This paper examines a 58-year-old man with SS, severe dyspnea and recurrent exacerbations associated with bronchiolitis-bronchiectasis. The absence of anti-Ro and anti-La antibodies associated with severe bronchiolitis is a clinical presentation that is poorly characterized in this group of patients; moreover, how to treat them remains unclear. Copyright © 2016 Elsevier España, S.L.U. and Sociedad Española de Reumatología y Colegio Mexicano de Reumatología. All rights reserved.