Khan, Arif O; Aldahmesh, Mohammad
Duane retraction syndrome has been reported in association with structural abnormalities of the eye, including epibulbar dermoid, keratoconus, iris dysplasia, heterochromia iridis, persistent fetal vasculature, cataract, choroidal coloboma, microphthalmia, and optic nerve dysplasia. A novel association, that of bilateral Duane syndrome with bilateral aniridia, is the subject of this report.
Milanlioglu, Aysel; Aydın, Mehmet Nuri; Gökgül, Alper; Hamamcı, Mehmet; Erkuzu, Mehmet Atilla; Tombul, Temel
Opercular syndrome, also known as Foix-Chavany-Marie syndrome, is a paralysis of the facial, pharyngeal, masticatory, tongue, laryngeal, and brachial muscles. It is a rare cortical form of pseudobulbar palsies caused by vascular insults to bilateral operculum. Its clinical presentations include anarthria, weakness of voluntary muscles involving face, tongue, pharynx, larynx, and masticatory muscles. However, autonomic reflexes and emotional activities of these structures are preserved. In the present case, an 81-year-old male presented with acute onset of anarthria with difficulties in chewing, speaking, and swallowing that was diagnosed with opercular syndrome.
Milanlioglu, Aysel; Aydın, Mehmet Nuri; Gökgül, Alper; Hamamcı, Mehmet; Erkuzu, Mehmet Atilla; Tombul, Temel
Opercular syndrome, also known as Foix-Chavany-Marie syndrome, is a paralysis of the facial, pharyngeal, masticatory, tongue, laryngeal, and brachial muscles. It is a rare cortical form of pseudobulbar palsies caused by vascular insults to bilateral operculum. Its clinical presentations include anarthria, weakness of voluntary muscles involving face, tongue, pharynx, larynx, and masticatory muscles. However, autonomic reflexes and emotional activities of these structures are preserved. In the present case, an 81-year-old male presented with acute onset of anarthria with difficulties in chewing, speaking, and swallowing that was diagnosed with opercular syndrome. PMID:23476665
Jousse-Joulin, Sandrine; Plat, Emmanuel; Guias, Bruno; D'agostino, Maria Antonietta; Bressollette, Luc; Saraux, Alain
Thenar hammer syndrome is a very rare condition that mimics rheumatic diseases such as carpal syndrome tunnel, Raynaud's phenomenon, and hand synovitis. To describe the sonographic presentation of thenar hammer syndrome in a typical patient. Grey-scale sonography and colour Doppler imaging of the hands with an iU22 scanner (Philips) were performed. In B mode, the lesion was seen as a large, rounded, heterogeneous area combining hypoechoic and echogenic components. Pseudoaneurysm was diagnosed based on presence of a cystic saccular formation arising directly from the adjacent artery and exhibiting an irregular thick wall with turbulent blood flow in the lumen. Colour Doppler showed blood flow in part of the lumen, the rest of which was filled with a thrombus seen as echogenic tissue. Sonography can help to diagnose thenar hammer syndrome. Angiography may be unnecessary in patients with normal colour Doppler findings. Copyright © 2010 Société française de rhumatologie. Published by Elsevier SAS. All rights reserved.
Scherrer, Karin Sofia; Weitz, Marcus; Eisenack, Johannes; Truffer, Béatrice; Konrad, Daniel
Iatrogenic Cushing syndrome induced by oral and parenteral corticosteroid administration is a well-known complication, and necessary precautions have to be taken. Cushing syndrome, however, following treatment with glucocorticoid-containing eye drops is a very rare complication. To the best of our knowledge, there have been only four reported cases in the literature. Herein, we present an infant boy who developed Cushing syndrome after receiving dexamethasone-containing eye drops after bilateral cataract extraction to prevent postoperative inflammatory complications. At the age of 5 months, after approx. 3 months of dexamethasone therapy, the patient presented with cushingoid facies, nephrocalcinosis and failure to grow. Iatrogenic Cushing syndrome was diagnosed and dexamethasone-containing eye drops were reduced and eventually stopped. Follow-up examinations revealed catch-up growth. Ocularly administered corticosteroids may have substantial systemic side effects in infants.
Cheikhrouhou, Héla; Khiari, Karima; Chérif, Lotfi; Ben Abdallah, Néjib; Ben Maïz, Hédi
The authors report a case of a 49-year-old woman presenting a Cushing's syndrome (January 1997). The Magnetic Resonance Image of the pituitary gland revealed a microadenoma without extension in the cavernous sinus and a partial empty sella. The computed tomography scan showed a discreet bilateral adrenal hyperplasia with a left nodule (23 mm in diameter) a second nodule was noted. These data suggested the eventuality of maconodular adrenocortical hyperplasia in long-standing Cushing's disease. We discuss the implications of this finding for diagnosis, treatment and follow-up.
Yakubov, Yakov; Mandel, Louis
Polycystic ovarian syndrome (PCOS) is recognized by the presence of polycystic ovaries, irregular menstruation, and increased androgen levels. Many patients have insulin resistance or impaired glucose tolerance and an associated development of type 2 diabetes mellitus. A patient with PCOS is presented whose cosmetic concerns centered on the prolonged existence of substantial bilateral parotid swelling. The pathophysiology, diagnosis, and therapy of sialosis are discussed.
Pirschner, Fernanda; Bastos, Pollyana Marçal; Contarato, George Luiz; Bimbato, Anna Carolina Bon Lima; Filho, Antônio Chambô
INTRODUCTION Gorlin syndrome (GS), also known as nevoid basal cell carcinoma syndrome (NBCCS), is a rare hereditary, autosomal dominant disease that affects various systems. Its prevalence is estimated at 1/57,000 to 1/256,000 of the population. It is characterized by basal cell carcinomas, multiple odontogenic keratocysts, skeletal abnormalities and ovarian fibroma, among other disorders. PRESENTATION OF CASE To report the case of a young patient with Gorlin syndrome and bilateral ovarian fibroma. DISCUSSION A 20-year old patient with Gorlin syndrome presented with facial asymmetry, broad nasal root, dental abnormalities, micrognathism, convergent strabismus, multiple pigmented lesions on the trunk and face, pectus excavatum, kyphoscoliosis and a palpable mass in the abdomen occupying the entire pelvic region. CONCLUSION Gorlin–Goltz syndrome is a hereditary pathology that includes numerous clinical manifestations. Diagnosis is clinical and genetic confirmation is unnecessary. PMID:22771908
Vicente, P; Canelles, E; Díaz, A; Fons, A
A 19 year-old boy who developed a right Horner's syndrome after a bilateral sympathectomy as a treatment for palmoplantar hyperhidrosis. Horner's syndrome is defined by the occurrence of miosis, ptosis and enophthalmos as a result of involvement of sympathetic innervation. This is quite rare, but identification is very important because it may also be an ominous sign secondary to a neoplasm, neurological diseases, or surgery of the sympathetic chain, as in our case. Copyright © 2010 Sociedad Española de Oftalmología. Published by Elsevier Espana. All rights reserved.
Yamanaka, Toshiaki; Sawai, Yachiyo; Hosoi, Hiroshi
Subclavian steal syndrome (SSS) is usually caused by unilateral subclavian artery (SA) occlusion, and bilateral SSS is very rare. Takayasu's arteritis (TA) is a chronic granulomatous form of vasculitis that affects the SA, most commonly in women aged 15-40 years. We report a rare case of bilateral SSS due to TA in a 52-year-old woman, who exhibited severe vertigo. Although her blood pressure was within the normal range and did not differ between her arms, Doppler ultrasonography revealed low antegrade blood flow in the right SA and retrograde flow in the left SA. Computed tomography angiography demonstrated complete obstruction of the bilateral SA proximal to the vertebral artery origin. The more marked decrease in the blood flow of the vertebrobasilar artery experienced in bilateral SSS compared with unilateral SSS is considered to have caused the severe rotatory vertigo in the present patient. Since the vascular conditions of TA progressively deteriorate, delayed diagnosis and treatment could result in poor outcomes and unfavorable prognosis. We suggest that SSS with TA might require an early detection and treatment as well as careful follow-up for preventing vertigo and other neurological deficits in the vertebrobasilar arterial region.
Chang, B S; Piao, X; Giannini, C; Cascino, G D; Scheffer, I; Woods, C G; Topcu, M; Tezcan, K; Bodell, A; Leventer, R J; Barkovich, A J; Grant, P E; Walsh, C A
Syndromes of bilateral symmetric polymicrogyria include an autosomal recessive form of bilateral frontoparietal polymicrogyria (BFPP), in which the malformation is most severe rostrally. The authors describe a new syndrome they have termed "bilateral generalized polymicrogyria" (BGP), in which the malformation occurs in a generalized distribution but is often most severe in the perisylvian regions. Patients with bilateral polymicrogyria were identified from multiple medical centers worldwide. The diagnosis of BGP was based on findings from conventional spin echo MRI and, in one case, postmortem neuropathologic findings. Genetic analysis was performed for those patients from consanguineous pedigrees and those with multiple affected siblings to rule out linkage to the BFPP locus on chromosome 16q. Twelve patients were identified with BGP. Clinical features included cognitive and motor delay as well as seizures. Some specific features characteristic of other known bilateral polymicrogyria syndromes, such as pseudobulbar palsy and dysconjugate gaze, were not commonly seen in these patients. Radiologically, polymicrogyria appeared widespread but was often most severe in the perisylvian regions. Pathologic examination in one case revealed a diffusely thin and excessively folded cerebral cortex lacking normal six-layered architecture. Seven patients subjected to genetic analysis did not demonstrate linkage to the BFPP locus. BGP is a distinct syndrome of cortical malformation. Several features allow BGP to be distinguished from other disorders on the growing list of bilateral symmetric polymicrogyria syndromes.
Djerić, Dragoslava; Čvorović, Ljiljana; Blažić, Srbislav
Crouzon syndrome is an autosomal dominant genetic disease characterized by bicoronal craniosynostosis, exorbitism with hypertelorism, and maxillary hypoplasia with mandibular prognathism. We present the first reported case of Crouzon syndrome associated with a bilateral con- genital cholesteatoma of the temporal bone and discuss about the potential pathogenesis. Early diagnosis and management are crucial to prevent complications and an otologist should be an integral part of the multidisciplinary team.
Fernández-Faith, Esteban; Kress, Douglas; Piliang, Melissa; Sachdeva, Mandi; Vidimos, Allison
A 3-year-old boy presented with asymptomatic elastomas on the posterior trunk. Radiographic studies revealed osteopoikilosis, confirming the diagnosis of Buschke-Ollendorff syndrome. The patient had a history of bilateral simple cutaneous syndactyly, which has not been previously reported with this condition. Buschke-Ollendorff syndrome is a rare autosomal-dominant disorder characterized by connective tissue nevi and osteopoikilosis. Several associated systemic abnormalities have been reported, but morbidity and mortality are generally not affected.
Boland, Michael R; Heck, Chris
Acute compartment syndrome of the thigh is rare due to the space's ability to accommodate large volumes of fluid and, with the exception of the lateral septum, its thin compliant linings. This article describes a case of bilateral exercise-induced severe compartment syndrome treated with anterior and posterior fasciotomies. A 29-year-old man was admitted to intensive care with myoglobinuria. His left thigh was evaluated 18 hours later for compartment syndrome. The patient reported that 14 hours prior to initial presentation, he had participated in a 1-hour session of vigorous basketball. He gradually developed bilateral moderately severe thigh pain and tea-colored urine. Physical examination revealed pain secondary to passive stretch of both knees at 20 degrees flexion, plus firm anterior and posterior compartments to palpation. A handheld pressure monitor revealed the following compartment pressures: left anterior 80 mm Hg; left posterior 75 mm Hg; right anterior 45 mm Hg; and right posterior 50 mm Hg. Bilateral emergent anterior and posterior compartment fasciotomies were performed. The patient developed a significant severe distal motor and sensory neurological deficit on the left side, which recovered to 3/5 motor strength and protective sensation. At 6-month follow-up, he ambulated with the assistance of a left ankle foot orthosis. Acute severe compartment syndrome can occur following vigorous exercise. We recommend fasciotomies after exercise-induced acute compartment syndrome rather than initial observation because of the severity of morbidity associated with undertreated compartment syndrome.
Rodriguez, Maria Matilde; Correa-Medina, Mayrin; Whittington, Elizabeth E.
Bilateral nephroblastomatosis (NB) is an uncommon renal anomaly characterized by multiple confluent nephrogenic rests scattered through both kidneys, with only a limited number of cases reported in the medical literature. Some of these children may have associated either Perlman or Beckwith–Wiedemann syndrome and others do not demonstrate syndromic features. We report a full-term boy with anteverted nose, bilateral bronchial stenosis due to lack of cartilage, bilateral obstructive renal dysplasia and NB with glomeruloid features. The infant had visceromegaly, but neither gigantism nor hemihypertrophy. Immunohistochemistry for PAX2 (Paired box gene-2) and WT-1 (Wilms Tumor 1) were strongly positive in the areas of NB. GLEPP-1 (Glomerular Epithelial Protein) did not stain the areas of NB with a glomeruloid appearance, but was positive in the renal glomeruli as expected. We found neither associated bronchial stenosis nor the histology of NB resembling giant glomeruli in any of the reported cases of NB. PMID:25871299
Acharya, Sonu; Panda, Swagatika; Singh Dhull, Kanika; Sahoo, Sujit Ranjan; Ray, Prayas
Gorlin's syndrome is a rare disorder transmitted as an autosomal dominant trait. It is characterized by multiple disorders involving multiple systems. We present a case of 11-year-old male child presenting with multiple odontogenic keratocyst to the dental clinic. Retrograde diagnosis of Gorlin-Goltz syndrome was made after clinical and radiological investigation. How to cite this article: Acharya S, Panda S, Dhull KS, Sahoo SR, Ray P. Gorlin Syndrome with Bilateral Polydactyly: A Rare Case Report. Int J Clin Pediatr Dent 2013;6(3):208-212.
Han, Jennifer Y; Mirsadraei, Leili; Yeh, Michael W; Suh, Jeffrey D; Yong, William H; Bergsneider, Marvin; Heaney, Anthony P
To discuss the role of bilateral adrenalectomy in Cushing syndrome, as illustrated in a case of severe hypercortisolism that was unresponsive to combination agent medical therapy. We report the clinical, laboratory, imaging, and pathologic findings in a patient with ectopic Cushing syndrome attributable to an adrenocorticotropic hormone (ACTH)-secreting neuroblastoma. In addition, we provide a literature review regarding olfactory neuroblastoma and discuss current and emerging therapeutic options for Cushing syndrome. A 59-year-old man presented with nasal congestion and neck swelling and was noted to have hypokalemia, hypertension, and hyperglycemia. A nasal biopsy demonstrated a poorly differentiated carcinoma with neuroendocrine features. He was subsequently diagnosed as having ACTH-dependent Cushing syndrome, but despite high-dose combination medical therapy, his condition rapidly deteriorated. Urgent bilateral adrenalectomy provided rapid control of the hypercortisolism, and the patient was later able to undergo an uncomplicated total macroscopic resection of his locally metastatic primary tumor. This report describes the challenges in the diagnosis and management of ACTH-dependent Cushing syndrome and highlights the important role that bilateral adrenalectomy can still have in patients with severe hypercortisolism causing life-threatening complications.
Karaoren, Gulsah; Bakan, Nurten; Tomruk, Senay Goksu; Topaç, Zelin; Kurtulmuş, Tuhan; Irkören, Saime
Compartment syndrome is a serious condition characterized by raised intracompartmental pressure, which develops following trauma. Well leg compartment syndrome (WLCS) is a term reserved for compartment syndrome in a nontraumatic setting, usually resulting from prolonged lithotomy position during surgery. In literature, 8 cases have been reported regarding well leg compartment syndrome in a supine position and bilateral symmetrical involvement was observed in only 2 cases. In WLCS etiology, lengthy surgery, lengthy hypotension, and extremity malpositioning have been held responsible but one of the factors with a role in the etiology may have been the tissue oedema and impaired microcirculation formed from the effect of vasoactive mediators expressed into the circulation associated with the massive blood transfusion. The case is presented here regarding symmetrical lower extremity compartment syndrome after surgery in which massive transfusion was made for gross haemorrhage from an abdominal injury. In conclusion, blood transfusion applied at the required time is life-saving but potential risks must always be considered.
Plaza, M; du Boullay, V; Perrault, A; Chaby, L; Capelle, L
We report the longitudinal case study of a right-handed patient harboring two frontal tumors that benefited from bilateral simultaneous surgery. The tumors were WHO Grade II gliomas located in the left inferior frontal area (including the cingulate gyrus) and the right anterior superior frontal gyrus. The double tumor resection was guided by direct electrical stimulation of brain areas while the patient was awake. Neuropsychological assessments were administered before and after the surgery to analyse how the brain functions in the presence of two frontal gliomas that affect both hemispheres and reacts to a bilateral resection, which can brutally compromise the neuronal connectivity, progressively established during the infiltrating process. We showed that both the tumor infiltration and their bilateral resection did not lead to a "frontal syndrome" or a "dysexecutive syndrome" predicted by the localization models. However, a subtle fragility was observed in fine-grain language, memory and emotional skills. This case study reveals the significance of brain plasticity in the reorganization of cognitive networks, even in cases of bilateral tumors. It also confirms the clinical relevance of hodotopical brain models, which considers the brain to be organized in parallel-distributed networks around cortical centers and epicenters.
Sarıman, Nesrin; Koca, Öncel; Boyacı, Zerrin; Levent, Ender; Soylu, Akın Cem; Alparslan, Sümeyye; Saygı, Attila
Vocal cord paralysis is a rare cause of obstructive sleep apnea syndrome (OSAS). Recurrent laryngeal nerve injury after thyroid gland surgery is one of the leading causes of acquired vocal cord paralysis. A 46-year-old woman with OSAS due to bilateral abductor vocal cord paralysis was presented. She had thyroidectomy 30 years ago and had a weak, breathy voice. She had been referred with a history of high-pitched snoring, apnea witnessed by her spouse, and excessive daytime sleepiness for the last 5 years. Full-night polysomnography revealed that her apnea-hypopnea index was 72/h and minimal oxygen saturation level was 81%. There was no REM and deep sleep periods. Ear-nose-throat consultation offered an endoscopic bilateral posterior cordotomy operation via microscopic suspension laryngoscopy (MLS) as a treatment option. Instead of using a nasal positive airway pressure (nCPAP) device, she was treated surgically. Her OSAS resolved completely within 5 months of the surgery. Her phonation was preserved, and symptoms such as snoring and hypersomnolance disappeared. In OSAS patients with bilateral vocal cord paralysis, MLS-associated bilateral posterior cordotomy can be a choice of treatment as an alternative to nCPAP application.
Sarkar, Supriya; Saha, Kaushik
Rhupus syndrome, the overlap of rheumatoid arthritis (RA) and systemic lupus erythematosus (SLE), is an extremely uncommon condition. Organ damages found due to SLE are usually mild in rhupus. Lupus pneumonitis in rhupus syndrome has not been reported worldwide. We are reporting a 23-year-old female with bilateral symmetric erosive arthritis, oral ulcer, alopecia, polyserositis, anemia, leucopenia, positive RA-factor, anti nuclear antibody (ANA) and anti ds-DNA. She presented with acute onset dyspnea, high fever, chest pain, tachycardia, tachypnea, hypoxia and respiratory alkalosis. High resolution computed tomography (HRCT)-thorax showed bilateral, basal consolidation with air bronchogram. Repeated sputum and single broncho alveolar lavage (BAL) fluid examination revealed no organism or Hemosiderin-laden macrophage. The diagnosis of rhupus was confirmed by combined manifestations of RA and SLE, and the diagnosis of acute lupus pneumonitis was established by clinico-radiological picture and by excluding other possibilities.
Banerjee, D; Anderson, J A; Taveras, N A; González Della Valle, A
Stickler Syndrome is an infrequent autosomal dominant connective tissue disorder. The most prevalent mutation affects type II collagen gene and results in abnormalities in cartilage, vitreous and nucleus pulposus. Orthopaedic manifestations include joint hyper- mobility and pain with early development of secondary osteoarthritis. The condition has a predilection for the femoral head and patients usually present in their third to fourth decade with secondary hip arthritis. We report on two siblings with Stickler Syndrome who presented with hip osteoarthritis in their third decade of life and underwent staged bilateral total hip arthroplasties (THA). The patients experienced pain relief and improved quality of life after surgery.
Prajapati, O. P.; Verma, A. K.; Mishra, A.; Agarwal, G.; Agarwal, A.; Mishra, S. K.
Aim: To assess the outcome of patients undergoing bilateral adrenalectomy for Cushing's syndrome (CS). Methods: All patients who underwent bilateral adrenalectomy for CS at the Department of Endocrine Surgery, Sanjay Gandhi Postgraduate Institute of Medical Sciences hospital between 1991 and 2013 were included. Medical records were reviewed to obtain patient characteristics and follow-up data. Results: Twenty-seven patients were studied. Mean age was 28.74 ± 12.95 years (range 9–60), male:female ratio was 1.7:1. About half that is, 48.19% were of Cushing's disease (failed trans-sphenoidal surgery [TSS]), 37.04% were of ectopic CS (ECS), and 14.81% were of CS due to bilateral adrenal pathology. Median follow-up period was 80.5 months. Before surgery, 74.1% patients had body mass index > which after surgery declined to <25 in 75% of them. Hypertension was present in 85.2% and after surgery resolved in 40%. Diabetes mellitus was present in 44.4% and after surgery resolved in 33% of them. Hirsutism and proximal muscle weakness were present in 55.6% and 70.4% patients, respectively, and after surgery improved markedly in all patients. Adrenal crisis developed in 36.3% and Nelson's syndrome in 41.7% patients during follow-up. Three patients died in perioperative period while three succumbed to the disease during follow-up. Two patients developed recurrence of endogenous cortisol production during the follow-up period. Conclusions: Bilateral adrenalectomy is a valid treatment option for palliating severe symptoms in Pituitary Cushing's with failed TSS and unlocalized ECS but the procedure is curative for CS due to bilateral adrenal disease. Overall morbidity and mortality is higher than other endocrine operations. Co-morbidities tend to be more severe and are a risk factor for mortality during the time patient survives. PMID:26693437
Jack, Andrew S; Chow, Michael M; Fiorillo, Loretta; Chibuk, Thea; Yager, Jerome Y; Mehta, Vivek
The acronym PHACE has been used to denote a constellation of abnormalities: posterior fossa anomalies, facial hemangiomas, arterial anomalies, cardiac anomalies, and eye abnormalities. Approximately 30% of patients with large facial hemangiomas have PHACE syndrome, with the vast majority having intracranial arteriopathy. Few reports characterize neurological deterioration from this intracranial arteriopathy, and even fewer report successful treatment thereof. The authors report on a case of a child with PHACE syndrome who presented with an ischemic stroke from a progressive intracranial arteriopathy and describe her successful treatment with bilateral pial synangiosis. An 8-month old girl diagnosed with PHACE syndrome was found to have bilateral internal carotid artery stenosis. Although initially asymptomatic, a few months after diagnosis she suffered a right frontal and parietal stroke. MRI and cerebral angiography investigations demonstrated progressive intracranial arterial stenosis and occlusion. The patient then underwent indirect cerebral revascularization surgery. At 2-year follow-up, she exhibited clinical improvement with persistent speech and motor developmental delay. Follow-up MRI and cerebral angiography showed no new ischemic events and robust extensive vascular collateralization from surgery. PHACE syndrome is an uncommon disease, and affected patients often have cerebral arteriopathy. Although the underlying natural history of cerebral arteriopathy in PHACE remains unclear, cerebral revascularization may represent a potential therapy for symptomatic patients.
Kilinc, Ozden; Ekinci, Gazanfer; Demirkol, Ezgi; Agan, Kadriye
Congenital bilateral perisylvian syndrome (CBPS) is a type of cortical developmental abnormality associated with distinctive clinical and imaging features. Clinical spectrum of this syndrome is quite heterogeneous, with different degrees of neurological impairment in affected individuals. High-definition magnetic resonance imaging (MRI) has a great importance in revealing the presence of CBPS, but is limited in elucidating the heterogeneous clinical spectrum. The arcuate fasciculus (AF) is a prominent language tract in the perisylvian region interconnecting Broca and Wernicke areas, and has a high probability of being affected developmentally in CBPS. Herein, we report a case of CBPS with investigation of AF using diffusion tensor imaging (DTI) and fiber tractography in relation to clinical findings. We postulated that proven absence of AF on DTI and fiber tractography would correlate with a severe phenotype of CBPS.
Bilateral anterior opercular syndrome and partial Kluver–Bucy syndrome are associated with bilateral middle cerebral artery lesions. The combination of these two syndromes has only been reported in a child with limbic encephalitis. In this case, a 44-year-old woman with bilateral middle cerebral artery infarction, which occurred 2 years prior, could walk independently. However, she showed automatic-voluntary dissociation and anarthria with preserved writing skills. She also presented hypersexuality, hypermetamorphosis, and memory disturbances. Here, we report a case of an adult stroke patient who suffered from bilateral anterior opercular syndrome accompanied by partial Kluver–Bucy syndrome. PMID:27446793
Cho, Ah-Ra; Lim, Young-Ho; Chung, Sae-Hoon; Choi, Eun-Hi; Lim, Jong Youb
Bilateral anterior opercular syndrome and partial Kluver-Bucy syndrome are associated with bilateral middle cerebral artery lesions. The combination of these two syndromes has only been reported in a child with limbic encephalitis. In this case, a 44-year-old woman with bilateral middle cerebral artery infarction, which occurred 2 years prior, could walk independently. However, she showed automatic-voluntary dissociation and anarthria with preserved writing skills. She also presented hypersexuality, hypermetamorphosis, and memory disturbances. Here, we report a case of an adult stroke patient who suffered from bilateral anterior opercular syndrome accompanied by partial Kluver-Bucy syndrome.
Haruki, Takashi; Ito, Hiroshi; Sakata, Kensuke; Kobayashi, Yurio
A man with Marfan syndrome underwent a Bentall procedure for annuloaortic ectasia and severe aortic regurgitation at 43 years of age. Twenty-eight years after the Bentall procedure, he developed bilateral axillary artery aneurysms (length × diameter: right: 80 × 39 mm; left: 103 × 45 mm). Aneurysmectomy and reconstruction of the axillary artery were performed using an artificial vascular graft. Histological examination revealed cystic medial necrosis. The postoperative course was uneventful, but long-term follow-up is necessary.
Karaoren, Gulsah; Bakan, Nurten; Tomruk, Senay Goksu; Topaç, Zelin; Kurtulmuş, Tuhan; Irkören, Saime
Compartment syndrome is a serious condition characterized by raised intracompartmental pressure, which develops following trauma. Well leg compartment syndrome (WLCS) is a term reserved for compartment syndrome in a nontraumatic setting, usually resulting from prolonged lithotomy position during surgery. In literature, 8 cases have been reported regarding well leg compartment syndrome in a supine position and bilateral symmetrical involvement was observed in only 2 cases. In WLCS etiology, lengthy surgery, lengthy hypotension, and extremity malpositioning have been held responsible but one of the factors with a role in the etiology may have been the tissue oedema and impaired microcirculation formed from the effect of vasoactive mediators expressed into the circulation associated with the massive blood transfusion. The case is presented here regarding symmetrical lower extremity compartment syndrome after surgery in which massive transfusion was made for gross haemorrhage from an abdominal injury. In conclusion, blood transfusion applied at the required time is life-saving but potential risks must always be considered. PMID:26885421
Bayer-Karpinska, Anna; Patzig, Maximilian; Adamczyk, Christopher; Dimitriadis, Konstantinos; Wollenweber, Frank A; Dichgans, Martin; Jahn, Klaus; Opherk, Christian
The pathophysiological basis of reversible cerebral vasoconstriction syndrome is poorly understood but carotid artery dissection has been discussed as a rare possible cause. So far, only single cases of unilateral carotid artery dissection and reversible cerebral vasoconstriction syndrome have been reported. Here, we describe the case of a 54-year old patient presenting to the emergency department with right hemiparesis, hypaesthesia and dysarthria. Furthermore, he reported two episodes of thunderclap headache after autosexual activity. Cerebral imaging showed ischaemic infarcts, slight cortical subarachnoid haemorrhage, bilateral carotid artery dissection and fluctuating intracranial vessel irregularities, compatible with reversible cerebral vasoconstriction syndrome. An extensive diagnostic work-up was normal. No typical trigger factors of reversible cerebral vasoconstriction syndrome could be found. The patient received intravenous heparin and the calcium channel blocker nimodipine. Follow-up imaging revealed no vessel irregularities, the left internal carotid artery was still occluded. This case supports the assumption that carotid artery dissection should be considered as a potential trigger of reversible cerebral vasoconstriction syndrome, possibly by altering sympathetic vascular tone.
Sahu, Sabin; Yadav, Reena; Gupta, Sharad; Raj Puri, Lila
A rare case of bilateral ectopia lentis with isolated lens coloboma in Marfan syndrome is reported. A 21-year-old female presented with decreased vision in both eyes. Her unaided visual acuity was 20/200 and 20/400 in the right and left eye, respectively, improving to 20/40 with –4.5 DS/–3.0 DC x 10° correction in the right eye and 20/80 with –10.0 DS/–6.5 Dc x10° correction in the left eye. On slit lamp examination under mydriasis, both eyes revealed ectopia lentis with lens coloboma and stretched zonules. Fundus examination revealed pigmentary changes at the fovea. On systemic evaluation, she was diagnosed with Marfan syndrome. She was prescribed a refractive correction in form of a contact lens and kept under observation. PMID:28028488
Sahu, Sabin; Yadav, Reena; Gupta, Sharad; Raj Puri, Lila
A rare case of bilateral ectopia lentis with isolated lens coloboma in Marfan syndrome is reported. A 21-year-old female presented with decreased vision in both eyes. Her unaided visual acuity was 20/200 and 20/400 in the right and left eye, respectively, improving to 20/40 with -4.5 DS/-3.0 DC x 10° correction in the right eye and 20/80 with -10.0 DS/-6.5 Dc x10° correction in the left eye. On slit lamp examination under mydriasis, both eyes revealed ectopia lentis with lens coloboma and stretched zonules. Fundus examination revealed pigmentary changes at the fovea. On systemic evaluation, she was diagnosed with Marfan syndrome. She was prescribed a refractive correction in form of a contact lens and kept under observation.
Bremner, F D; Smith, S E
To compare the pupil signs in patients with bilateral pupillotonia caused by Holmes-Adie syndrome or generalised peripheral neuropathy. Infrared video pupillographic techniques were used to measure a number of pupil variables in patients with Holmes-Adie syndrome, generalised neuropathy (various aetiologies) and healthy age-matched control subjects. Regardless of aetiology, the patients generally had pupil signs typical of pupillotonia (small dark diameters, large light diameters, tonic near responses, attenuated light responses with light-near dissociation, and sector palsy). However, significant differences were found in the prevalence and magnitude of several pupil variables in the two patient groups. In particular, sector palsy and anisocoria exceeding 1 mm (in the light) were seen much more commonly in Holmes-Adie patients than patients with generalised neuropathy. The presence of both these pupil signs can be used to distinguish between these diagnoses with a sensitivity of 58% and a specificity of 90%. The tonic pupils of patients with Holmes-Adie syndrome are significantly different to those found in patients with generalised neuropathy; recognition of these differences may allow distinction between these diagnoses.
Hasegawa, Satoshi; Aoyama, Tomoki; Kakinoki, Ryosuke; Toguchida, Junya; Nakamura, Takashi
Phlegmasia dolens is a rare disorder caused by massive venous thrombosis. The clinical condition is subclassified as phlegmasia cerulea dolens (PCD) and phlegmasia alba dolens. The 2 forms differ in the venous area affected and remaining blood flow, causing arterial involvement and resulting in a difference in therapeutic strategy and prognosis. In PCD, the mortality rate is high, and amputation for venous gangrene is needed. Phlegmasia alba dolens is a mild form of PCD; the collateral venous system is intact, and the prognosis is better than for PCD. We experienced a rare case of bilateral phlegmasia dolens associated with Trousseau's syndrome. The patient was diagnosed with phlegmasia alba dolens because the artery was not occluded. She was treated with anticoagulant therapy, the placement of a vena cava filter, and a rehabilitation program. The bilateral soleus muscles underwent necrosis, and the occurrence of equinus foot disturbed her walking, but careful rehabilitation with stretching, a range of passive motion exercises by a physical therapist, a tilting table, and ergometer training strengthened the muscles and allowed the patient to walk unaided 8 months after onset. Through this case, we hope to learn more about the pathogenesis of phlegmasia dolens and clinical treatment measures.
Arzul, L; Henoux, M; Marion, F; Corre, P
Chronic dislocation of the temporo-mandibular joint (TMJ) is rare. It occurs when an acute dislocation is left untreated, in certain situations, including severe illness, neurologic or psychiatric diseases or prolonged oral intubation. A 79 years old woman, with Meige syndrome, suffered from bilateral dislocation of the TMJ for over 1 year. Surgical repositioning of the mandibular condyles and temporal bone eminectomy were performed. At the 18 postoperative months control, no recurrence has been noted. Treatment of chronic TMJ dislocations often requires a surgical procedure. Manual reduction, even under general anaesthesia, often fails because of severe muscular spasm and periarticular fibrotic changes. The management of this disorder is still controversial. We review available surgical procedures. Copyright © 2015 Elsevier Masson SAS. All rights reserved.
Lee, Young Sil; Moon, Seong Su
Hypothyroidism can cause a variety of signs and symptoms of the neuromuscular system. However, ptosis in a patient with hypothyroidism is very rare. We report here on a case of central hypothyroidism that was due to Sheehan's syndrome and it manifested as bilateral ptosis in a 51-yr-old woman. She complained of exertional dyspnea and weakness. About 25-yr ago, she had a history of severe postpartum vaginal bleeding. The laboratory studies demonstrated hypopituitarism with secondary hypothyroidism. The ptosis was improved by replacement of thyroid hormone. Hypothyroidism should be considered in the differential diagnosis of patients who manifest with ptosis and that prompt replacement of hormone can lead to a complete recovery.
Squintani, Giovanna; Mezzina, Corrado; Lettieri, Christian; Critelli, Adriana; Eleopra, Roberto
We report an unusual case of Parsonage-Turner syndrome with relapses and simultaneous bilateral anterior interosseous neuropathy (AIN). A 66-year-old man, after a typical right brachial amyotrophic neuralgia few months previously, underwent surgery for left carpal tunnel syndrome. The day following surgery, wrist aching and bilateral weakness, even if prevalent on the right side, on thumb and index finger flexion appeared. Neurophysiology was consistent with bilateral AIN neuropathy and serology revealed anti-nucleus antibody positivity. Association of relapses with bilateral acute AIN involvement in the subject with autoantibody detection can suggest an immunological pathogenesis.
Sucher, B M; Cavanaugh, J A
A case of Guillain-Barre syndrome (GBS), with secondary entrapment of the posterior interosseous nerve bilaterally, is presented. It is felt that this was caused by the edema associated with the primary GBS, which led to compression with an anatomically narrowed supinator space, previously aggravated by repetitive pronation-supination. Diagnosis of such cases demands careful serial physical examinations, electromyography, and nerve conduction velocity studies. Appropriate splinting and careful exercise to balance muscle return are essential in physiatric management.
Belfield, J C; Witana, J S; Connolly, D J A
Melnick-Needles Syndrome is a rare disorder associated with many abnormalities. This case report describes a patient with Melnick-Needles Syndrome who was found to have bilateral hypoplasia of the cochlea, a finding not previously described in the literature. The case report describes the syndrome and demonstrates the findings on CT and MR imaging of temporal bones.
Cougard, P; Peix, J L; Peschaud, F; Goudet, P
Two cases of acute necrotizing pancreatitis after bilateral laparoscopic adrenalectomy were observed in patients with an ectopic ACTH syndrome. Two reasons may be suspected: the difficulty of dissection in such patients and the specific morbidity in relation to hypercorticism.
Pledger, S R; Hirsch, B; Freiberg, R A
A 30-year-old patient developed bilateral carpal tunnel syndrome secondary to gouty tenosynovitis. Relief of symptoms followed removal of the tophaceous masses from the carpal tunnel. Surgical treatment is recommended whenever there is symptomatic median nerve compression.
Khanna, Geetika; Kantawala, Kartikeya; Shinawi, Marwan; Sarwate, Sandhya; Dehner, Louis P
Bilateral synchronous intratesticular masses are rare but can be caused by metastatic disease to the testicle, primary testicular masses or benign etiologies such as congenital adrenal hyperplasia and granulomatous orchitis. We present an unusual case of McCune-Albright syndrome presenting with unilateral testicular enlargement and bilateral testicular masses secondary to Sertoli cell hyperplasia. To our knowledge, this is a unique case of testicular masses secondary to McCune-Albright syndrome.
Cronje, W H; Vashisht, A; Studd, J W W
Premenstrual syndrome (PMS) is a chronic, poorly understood psycho-endocrine disorder severely affecting 5%; of women. Hormonal therapy which suppresses ovulation is the mainstay of medical treatment, but these interventions are rarely permanent. We evaluated the effectiveness and patient satisfaction with total abdominal hysterectomy/bilateral salpingo-oophorectomy (TAH/BSO) in PMS sufferers, and assessed the post-operative HRT continuation. All women undergoing TAH/BSO for severe PMS between January 1994 and April 2000 were interviewed and responses recorded by structured questionnaire. Forty-seven women were interviewed. Median age was 42 years (interquartile range 39.8-46.6) at the time of surgery. They had suffered with PMS for a mean of 9.68 years (SD 6.8) and received treatment for a mean of 3.57 years (SD 2.0) prior to referral to a gynaecologist. Fifty-two percent were treated with estradiol patches and 48% with estradiol implants prior to TAH/BSO. Ninety-six percent of women were 'satisfied' or 'very satisfied' with TAH/BSO, and 93.6% declared complete resolution of their cyclical symptoms; 93.6% were continuing with HRT usually by implants of estradiol and testosterone for a mean duration of 3.8 years (SD 1.86) post-operatively. Despite few reports of TAH/BSO as a treatment for severe PMS, we have found surgery, coupled with appropriate HRT, to be an extremely effective and well-accepted permanent cure for PMS.
Tandon, Yasmeen K; Rubin, Michael; Kahlifa, Mohamed; Doumit, Gaby; Naffaa, Lena
Craniosynostosis is a pathologic condition which is characterized by the premature fusion of cranial sutures. It may occur alone or in association with other anomalies making up various syndromes. Crouzon syndrome is the most common craniosynostosis syndrome. Bicoronal sutures fusion is most commonly involved in Crouzon syndrome. There have only been a handful of cases of squamosal suture synostosis described in the surgery literature with the few ones described in Crouzon syndrome associated with other types of craniosynostosis. To the best of our knowledge, we are presenting the first case of isolated bilateral squamosal suture synostosis in a patient with Crouzon syndrome in a radiology journal with emphasis on its radiological appearance.
Tsai, C Y; Yu, C L; Tsai, S T
A 65-year-old man with long-term gouty arthritis developed bilateral carpal tunnel syndrome. At surgery a chalky substance, which showed negative birefringence on polarized microscopy, was found infiltrating around the intensely inflamed transverse carpal ligaments. In differential diagnosis of carpal tunnel syndrome, tophaceous compression over the median nerve should be taken into consideration.
Bhat, Anil K; Madi, Sandesh; Mane, Prajwal Prabhudev; Acharya, Ashwath
Tarsal tunnel syndrome (TTS) is one of the frequently encountered entrapment neuropathies of the lower limb. Most often the aetiology is considered to be idiopathic. However, it has to be thoroughly investigated to rule out diverse extrinsic and intrinsic causes. The sustentaculum tali (ST) forms the superior part of the distal tarsal tunnel, and any increase in its size may result in irritation of the tibial nerve or its branches, the medial and lateral plantar nerves or decrease the overall volume of the tarsal tunnel culminating to clinical features of TTS. A hypertrophied ST is an extremely rare cause for TTS, and we report perhaps a first case of bilateral TTS in a young adult due to bilateral symmetrical hypertrophied ST which in turn was a result of bilateral fibrous tarsal coalition. Staged bilateral surgical excision of the hypertrophied part of ST and the underlying fibrous tarsal coalition ensured prompt symptomatic relief. © 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.
Stefanou, E-G G; Hanna, G; Foakes, A; Crocker, M; Fitchett, M
A case of prenatally detected cri du chat syndrome (5p-) is reported. Amniocentesis was performed following an abnormal ultrasound finding of isolated moderate bilateral ventriculomegaly. The karyotype showed a terminal deletion of the short arm of chromosome 5 including the critical region 5p15 for cri du chat syndrome. This was confirmed by fluorescence in situ hybridisation (FISH). Isolated mild ventriculomegaly may be a non-specific marker for cri du chat syndrome.
García-Esperón, Carlos; López-Cancio, Elena; Martín-Aguilar, Lorena; Millán, Mónica; Castaño, Carlos; Munuera, Josep; Dávalos, Antoni
The "pontine warning syndrome" is characterized by recurrent episodes of motor hemiparesis, dysarthria and horizontal gaze palsy associated with basilar artery branch infarction. We report a case of a patient who presented with recurrent, self-limited episodes of locked-in syndrome, related to a bilateral pontine infarction. As far as we know, this clinical presentation as a subtype of pontine warning syndrome has never been described. We discuss the case, the differential diagnosis of the neuroimaging and the possible underlying mechanism.
Aggarwal, Sandeep; Yadav, Kunal; Sharma, Aditya P; Sethi, Vrishketan
Laparoscopic adrenalectomy is well established for treatment of adrenal lesions. However, bilateral adrenalectomy for Cushing syndrome is a challenging and time-consuming operation. We report our experience of laparoscopic bilateral adrenalectomy for this disease in 19 patients. From September 2009 to August 2012, we have operated 19 patients with Cushing syndrome and performed bilateral laparoscopic adrenalectomy using the transperitoneal approach; synchronous in 15 patients and staged in 4 patients. In 15 patients, the surgery was carried out sequentially on both the sides in lateral position with intraoperative change in position. Complete adrenalectomy including periadrenal fat was carried out on both the sides. Nineteen patients were referred from Department of Endocrinology for bilateral adrenalectomy for adrenocorticotropin hormone (ACTH)-dependent and ACTH-independent Cushing syndrome. The indications for surgery were Cushing disease in 15 patients, occult/ectopic source of ACTH in 2 patients, and primary adrenal hyperplasia in 2 patients. Fifteen patients underwent bilateral adrenalectomy during the same operation. Four patients underwent staged procedures. All procedures were completed laparoscopically with no conversions. The mean operating time for simultaneous bilateral adrenalectomy was 210 minutes (range, 150 to 240 min). This included the repositioning and reprepping time. There were no major intraoperative complications. The average blood loss was 100 mL (range, 50 to 200 mL). None of the patients required blood transfusions in the postoperative period. The postoperative complications included minor port-site infection in 2 patients. One severely debilitated patient died on the 14th postoperative day because of hospital-acquired pneumonia. The remaining 18 patients have done well in terms of impact on the disease. Laparoscopic bilateral adrenalectomy for Cushing syndrome is feasible and safe. It confers all the advantages of minimally invasive
Baba, Akira; Yamazoe, Shinji; Okuyama, Yumi; Shimizu, Kanichiro; Kobashi, Yuko; Nozawa, Yosuke; Munetomo, Yohei; Mogami, Takuji
Klippel-Trenaunay syndrome (KTS) is a vascular lymphatic malformation underlying with bony and soft tissue hypertrophy. It is a rare condition presenting in 1 out of 10 000 people. The growth disturbance due to KTS is more commonly unilateral (85%) than bilateral (12.5%), and most rarely crossed-bilateral (2.5%). A man in his 40s presented to our hospital with a complaint of lower limb discomfort. Radiograph, ultrasonography, computed tomography venography, magnetic resonance (and venography) showed various radiological findings characteristic for KTS. Because the patient was symptomatic, he underwent stripping of bilateral great saphenous vein and varicectomy of bilateral legs. The surgical procedures were undertaken successfully, and there has been no recurrent symptom for about 2 years and a half. In this study, we report a very rare case of bilateral KTS diagnosed by radiological and clinical manifestations with some literature review.
Fernández-de-las-Peñas, César; de la Llave-Rincón, Ana Isabel; Fernández-Carnero, Josué; Cuadrado, María Luz; Arendt-Nielsen, Lars; Pareja, Juan A
The aim of this study was to investigate whether bilateral widespread pressure hypersensitivity exists in patients with unilateral carpal tunnel syndrome. A total of 20 females with carpal tunnel syndrome (aged 22-60 years), and 20 healthy matched females (aged 21-60 years old) were recruited. Pressure pain thresholds were assessed bilaterally over median, ulnar, and radial nerve trunks, the C5-C6 zygapophyseal joint, the carpal tunnel and the tibialis anterior muscle in a blinded design. The results showed that pressure pain threshold levels were significantly decreased bilaterally over the median, ulnar, and radial nerve trunks, the carpal tunnel, the C5-C6 zygapophyseal joint, and the tibialis anterior muscle in patients with unilateral carpal tunnel syndrome as compared to healthy controls (all, P < 0.001). Pressure pain threshold was negatively correlated to both hand pain intensity and duration of symptoms (all, P < 0.001). Our findings revealed bilateral widespread pressure hypersensitivity in subjects with carpal tunnel syndrome, which suggest that widespread central sensitization is involved in patients with unilateral carpal tunnel syndrome. The generalized decrease in pressure pain thresholds associated with pain intensity and duration of symptoms supports a role of the peripheral drive to initiate and maintain central sensitization. Nevertheless, both central and peripheral sensitization mechanisms are probably involved at the same time in carpal tunnel syndrome.
Sumiyoshi, Takayuki; Utsunomiya, Noriaki; Segawa, Takehiko; Muguruma, Koei; Ichikawa, Koichi; Kawakita, Mutsushi
We report a case of compartment syndrome in bilateral lower legs after total cystectomy with urethrectomy and ileal conduit diversion. A 64-year-old man who had diabetes mellitus for 20 years underwent an operation for invasive bladder cancer. He was placed in the lithotomy position and both lower legs were protected with an elastic stocking and intermittent pneumatic compression for prevention of deep vein thrombosis during the operation. Seven hours postoperatively, he complained of bilateral calf pain. Eleven hours postoperatively, skin redness, swelling, movement and sensory disorder of bilateral lower legs were found. Contrasting computed tomography (CT) of lower legs showed the swelling of bilateral soleus muscles and gastrocnemius muscles without any contrasting effect. Creatinine phosphokinase (CPK) increased to 46, 740 IU/l and the intramuscular pressure was 50 mmHg. He was diagnosed with compartment syndrome, in bilateral lower legs and emergent fasciotomy was performed. Bilateral calf pain was improved immediately after fasciotomy and could walk on his own after rehabilitation. Lower leg compartment syndrome is an uncommon disease but may require lower leg amputation or result in death if the treatment is delayed. Urologists should recognize this disease as a complication after prolonged operation in the lithotomy position.
Ishizuka, Masato; Yamamoto, Yuko; Yamada, Shintaro; Maemura, Sonoko; Nakata, Ryo; Motozawa, Yoshihiro; Yamamoto, Keisuke; Takizawa, Masataka; Uozumi, Hiroki; Ikenouchi, Hiroshi
A 79-year-old Asian man was hospitalized because of progressive exertional dyspnea with decreasing left ventricular ejection fraction and frequent non-sustained ventricular tachycardia. Pre-procedure venography for implantable cardioverter defibrillator (ICD) implantation showed occlusion of the bilateral subclavian veins. In consideration of subcutaneous humps in the sterno-clavicular area and palmoplantar pustulosis, we diagnosed him as having synovitis, acne, pustulosis, hyperostosis, osteitis (SAPHO) syndrome and speculated that it induced peri-osteal chronic inflammation in the sterno-clavicular area, resulting in occlusion of the adjacent bilateral subclavian veins. An automatic external defibrillator (AED) was installed in the patient's house and total subcutaneous ICD was considered. Venous thrombosis in SAPHO syndrome is not frequent but has been reported. To the best of our knowledge, this is the first case of bilateral subclavian vein occlusion in a SAPHO syndrome patient who needs ICD implantation.
Chou, Chao-Liang; Lin, Ya-Ju; Sheu, Yu-Lin; Lin, Chen-Ju; Hseuh, I-Hung
Klüver-Bucy (KBS) syndrome is a rare and complicated neurobehavioral syndrome in humans resulting from damage of bilateral anterior temporal portion, especially the amygdala. It can be seen in association with a variety of etiologies. Stroke is a rarely reported. Here we present a 50-year-old right handed man who developed persistent KBS after cardioembolic stroke involving bilateral lateral temporal lobes. He exhibited all clinical features of KBS including visual agnosia, hypersexuality, placidity, hyperorality and hypermetamorphosis. The anatomical basis of pathophysiolgy, clinical course and possible treatment are discussed.
Lee, Eun Jung; Yoon, Yong Joo
This study reports an unusual case in which myelodysplastic syndrome presented bilateral sudden sensorineural hearing loss as the first symptom of the disease. The aural symptoms and signs such as tinnitus, dizziness, and hearing impairment of a hematologic disease are common. However, sudden hearing loss as the first manifestation of a hematologic disease is extremely rare. A 76-year-old woman presented with bilateral sudden hearing loss. The patient was found to have myelodysplastic syndrome during a workup for her hearing loss. Unfortunately, the patient's hearing loss did not improve after the medical treatment.
Zare, Mohammad Ali; Akbari, Mohammad Reza; Kiarudi, Mohammad Yaser; Mehrjardi, Hadi Zare
Duane's retraction syndrome (DRS) is characterized by limitations in horizontal eye movements, globe retraction, and palpebral fissure narrowing on attempted adduction. This disorder is caused by a disturbance in innervation originating in the brain stem and represents <1% of all cases of strabismus. It is postulated that this syndrome is due to an insult during the early weeks (8–10 weeks) of pregnancy and is 10–20 times more frequently associated with other systemic congenital anomalies. This case report of bilateral DRS included bilateral iris-retinal coloboma and congenital heart disease, sensory hearing loss, and inguinal hernia. PMID:27555711
Mocan, Mehmet C; Ozgen, Burce; Irkec, Murat
A 15-month-old girl was referred for evaluation of congenital absence of both eyelids. Clinical evaluation revealed bilateral total cryptophthalmos and enlarged globes in addition to genitourinary anomalies, umbilical hernia, renal agenesis, and facial anomalies. The clinical findings were consistent with Fraser syndrome. Magnetic resonance imaging of the orbits revealed dysplastic globes that were characterized by cystic expansions that extended laterally anterior to the lateral orbital rim. Bilateral orbito-palpebral cysts that communicate with a dysplastic globe and extend beyond the orbital cavity may be a rare presenting feature of Fraser syndrome.
Mitchell, Lex A; Santarelli, Justin G; Singh, Inder Paul; Do, Huy M
Reversible cerebral vasoconstriction syndrome (RCVS) is characterized by sudden-onset thunderclap headache and focal neurologic deficits. Once thought to be a rare syndrome, more advanced non-invasive imaging has led to an increase in RCVS diagnosis. Unilateral vertebral artery dissection has been described in fewer than 40% of cases of RCVS. Bilateral vertebral artery dissection has rarely been reported. We describe the case of a patient with RCVS and bilateral vertebral artery dissection presenting with an intramedullary infarct treated successfully with medical management and careful close follow-up. This rare coexistence should be recognized as the treatment differs. PMID:23354867
Mitchell, Lex A; Santarelli, Justin G; Singh, Inder Paul; Do, Huy M
Reversible cerebral vasoconstriction syndrome (RCVS) is characterized by sudden-onset thunderclap headache and focal neurologic deficits. Once thought to be a rare syndrome, more advanced non-invasive imaging has led to an increase in RCVS diagnosis. Unilateral vertebral artery dissection has been described in fewer than 40% of cases of RCVS. Bilateral vertebral artery dissection has rarely been reported. We describe the case of a patient with RCVS and bilateral vertebral artery dissection presenting with an intramedullary infarct treated successfully with medical management and careful close follow-up. This rare coexistence should be recognized as the treatment differs.
Tennant, Joshua N; Rungprai, Chamnanni; Phisitkul, Phinit
We present a case of bilateral anterior tarsal tunnel syndrome secondary EHB hypertrophy in a dancer, with successful treatment with bilateral EHB muscle excisions for decompression. The bilateral presentation of this case with the treatment of EHB muscle excision is the first of its type reported in the literature.
Erturan, Gurhan; Davies, Nev; Williams, Huw; Deo, Sunny
Acute compartment syndrome, a surgical emergency, is defined as increased pressure in an osseofascial space. The resulting reduction of capillary perfusion to that compartment requires prompt fasciotomy. Treatment delay has a poor prognosis, and is associated with muscle and nerve ischemia, resultant infarction, and late-onset contractures. We report a case of traumatic bilateral upper limb acute compartment syndrome associated with anabolic steroids, requiring bilateral emergency fasciotomies. A 25-year-old male bodybuilder taking anabolic steroids, with no past medical history, presented to the Emergency Department 25 min after a road traffic accident. Secondary survey confirmed injuries to both upper limbs with no distal neurovascular deficit. Plain radiographs demonstrated bilateral metaphyseal fractures of the distal humeri. Within 2 h of the accident, the patient developed clinical features that were consistent with bilateral upper arm compartment syndrome. Bilateral fasciotomies of both anterior and posterior compartments were performed, confirming clinical suspicion. We suggest consideration of a history of anabolic steroid use when evaluating patients with extremity trauma. Copyright © 2013 Elsevier Inc. All rights reserved.
Küker, W; Friese, S; Riethmüller, J; Krägeloh-Mann, I
Congenital bilateral perisylvian syndrome (CBPS) is a syndrome of cortical malformation characterized by faciopharyngoglossomasticatory diplegia. We report on two cases of CBPS with associated esophageal malformations and a poor mental and motor development. The association of CBPS and esophageal malformations may indicate a subgroup of patients with a very early prenatal injury, characterised by a bad prognosis due to severe cortical disorganization. However, it can not be excluded that the association of CBPS and esophageal malformation is purely coincidental.
Saricam, Merve Hatun; Tekin, Burak; Unver, Olcay; Ekinci, Gazanfer; Ergun, Tulin
Gómez-López-Hernández syndrome is a rare neurocutaneous disorder characterized by the triad of rhombencephalosynapsis, parietal alopecia, and trigeminal anesthesia. We report a 16-year-old girl with bilateral parietotemporal alopecia in whom cranial magnetic resonance imaging revealed rhombencephalosynapsis, suggesting a diagnosis of Gómez-López-Hernández syndrome. Neurologic examination and neuroimaging may be warranted in select patients with parietal alopecia to exclude this uncommon entity.
Guo, Ya-Wun; Hwu, Chii-Min; Won, Justin Ging-Shing; Chu, Chia-Huei
Summary A functional lesion in corticotrophin (ACTH)-independent Cushing’s syndrome is difficult to distinguish from lesions of bilateral adrenal masses. Methods for distinguishing these lesions include adrenal venous sampling and 131I-6β-iodomethyl-19-norcholesterol (131I-NP-59) scintigraphy. We present a case of a 29-year-old Han Chinese female patient with a history of hypercholesterolaemia and polycystic ovary syndrome. She presented with a 6month history of an 8kg body weight gain and gradual rounding of the face. Serial examinations revealed loss of circadian rhythm of cortisol, elevated urinary free-cortisol level and undetectable ACTH level (<5pg/mL). No suppression was observed in both the low- and high-dose dexamethasone suppression tests. Adrenal computed tomography revealed bilateral adrenal masses. Adrenal venous sampling was performed, and the right-to-left lateralisation ratio was 14.29. The finding from adrenal scintigraphy with NP-59 was consistent with right adrenal adenoma. The patient underwent laparoscopic right adrenalectomy, and the pathology report showed adrenocortical adenoma. Her postoperative cortisol level was 3.2μg/dL, and her Cushingoid appearance improved. In sum, both adrenal venous sampling and 131I-NP-59 scintigraphy are good diagnostic methods for Cushing’s syndrome presenting with bilateral adrenal masses. Learning points The clinical presentation of Cushing’ syndrome includes symptoms and signs of fat redistribution and protein-wasting features. The diagnosis of patients with ACTH-independent Cushing’s syndrome with bilateral adrenal masses is challenging for localisation of the lesion. Both adrenal venous sampling and 131I-NP-59 scintigraphy are good methods to use in these patients with Cushing’s syndrome presenting with bilateral adrenal masses. PMID:27252858
Migliaccio, Americo A.; Halmagyi, G. Michael; McGarvie, Leigh A.; Cremer, Phillip D.
We report four patients with the syndrome of cerebellar ataxia with bilateral vestibulopathy (CABV) and, using search coil oculography, we validate its characteristic clinical sign, namely impairment of the visually enhanced vestibulo-ocular reflex (VVOR) or doll's head reflex. In our four patients, CABV began in the sixth decade of life; they are…
Carpenter, J L; King, N W; Abrams, K L
A 5-year-old male Doberman Pinscher had nasal stenosis, dropped mandible, bilateral atrophy of masseter and temporalis muscles, and Horner's syndrome caused by aleukemic myelomonocytic leukemia. Neoplastic cellular neurotropism, diffuse turbinate and nodular peribronchial infiltrate, and a hepatic portal infiltrative pattern similar to that of lymphoma were microscopic features of interest.
Hagspiel, Klaus D.; Bonatti, Hugo; Sabri, Saher; Arslan, Bulent; Harthun, Nancy L.
Ehlers-Danlos syndrome type IV is a life-threatening genetic connective tissue disorder. We report a 24-year-old woman with EDS-IV who presented with metachronous bilateral aneurysms/pseudoaneurysms of the posterior tibial arteries 15 months apart. Both were treated successfully with transarterial coil embolization from a distal posterior tibial approach.
Migliaccio, Americo A.; Halmagyi, G. Michael; McGarvie, Leigh A.; Cremer, Phillip D.
We report four patients with the syndrome of cerebellar ataxia with bilateral vestibulopathy (CABV) and, using search coil oculography, we validate its characteristic clinical sign, namely impairment of the visually enhanced vestibulo-ocular reflex (VVOR) or doll's head reflex. In our four patients, CABV began in the sixth decade of life; they are…
Tandon, Yasmeen K; Rubin, Michael; Kahlifa, Mohamed; Doumit, Gaby; Naffaa, Lena
Craniosynostosis is a pathologic condition which is characterized by the premature fusion of cranial sutures. It may occur alone or in association with other anomalies making up various syndromes. Crouzon syndrome is the most common craniosynostosis syndrome. Bicoronal sutures fusion is most commonly involved in Crouzon syndrome. There have only been a handful of cases of squamosal suture synostosis described in the surgery literature with the few ones described in Crouzon syndrome associated with other types of craniosynostosis. To the best of our knowledge, we are presenting the first case of isolated bilateral squamosal suture synostosis in a patient with Crouzon syndrome in a radiology journal with emphasis on its radiological appearance. PMID:25071892
Omulecki, Wojciech; Wilczynski, Michal; Gerkowicz, Marek
A 52-year-old patient presented with signs clinically consistent with ectopia lentis et pupillae syndrome. The patient was treated successfully with vitrectomy, dislocated lens removal using perfluorocarbon liquid and phacofragmentation in the vitreous cavity, pupil reconstruction, and scleral-fixated intraocular lens implantation in both eyes. Despite the fact that the surgery was successful in technical terms, the final visual outcome was not as good as expected. This was caused by the optic nerve atrophy resulting from long-lasting glaucoma. Nevertheless, the described surgical techniques may be considered an effective method of treatment in cases of ectopia lentis et pupillae syndrome.
Nur, Banu Güzel; Altıok-Clark, Özden; İlhan, Hatice Deniz; Sayar, Ersin; Yücel, İclal; Mıhçı, Ercan
Congenital cataract is one of the most treatable causes of visual impairment and blindness during infancy, with an estimated prevalence of approximately 2.5:10,000 infants under the age of 1 year. Congenital cataract can be observed with certain chromosomal abnormalities, such as trisomies, deletions, translocations and Turner syndrome. In Klinefelter syndrome, however, ocular complications and cataract are not commonly encountered, so reports in the literature are very rare. In this manuscript, we present a 3-month-old male infant who had congenital cataracts. Chromosomal analysis revealed that his karyotype was 47,XXY. He did not show any of the main clinical signs of Klinefelter syndrome because of his very young age. To the best of our knowledge, our patient is only the second-ever case reported in the literature in which congenital cataracts have been found in an infant with a nonmosaic 47,XXY karyotype. The aim of the present report is to both describe the ocular abnormalities that can sometimes be found in Klinefelter syndrome and to emphasize the importance of performing a karyotype analysis in order to rule out chromosome abnormalities in patients with congenital cataracts.
Mikalef, P; Beslikas, T; Gigis, I; Bisbinas, I; Papageorgiou, T; Christoforides, I
Background: Weaver syndrome is a congenital paediatric syndrome characterized by mental, respiratory and musculoskeletal manifestations. The coexisting deformities of the skull, the face, fingers and toes are typical. We report a case of a girl with Weaver syndrome associated with rare bilateral congenital dislocation of the hips associated with congenital hypoplastic talus and subtalar dislocation of her ankle joint. Case Report: A 3-year old girl was admitted in our department with typical manifestations of Weaver syndrome, associated with congenital dislocation of bilateral hips, hypoplastic talus and subtalar dislocation of her right ankle. She was in pain while standing upright and incapable of independent walking. Both hips were treated operatively with open reduction and bilateral iliac osteotomy. Two years afterwards she had an open reduction of her talus and extraarticular arthrodesis of her subtalar joint in her right ankle. Six years postoperatively after the hip operations and four years after the ankle operation the girl is ambulant with a painless independent and unaided walking with a mild limp and full range of movements in all the operated joints. Conclusions: We suggest that children with Weaver syndrome and disabling musculosceletal deformities, particularly affecting their ability to stand up and walk should be treated early, before bone maturity, in order to achieve the best potential musculoskeletal as well as developmental outcome. PMID:20981173
Berrada, Khadija; Abourazzak, Fatima Ezzahra; Houssaini, Ghita Sqalli; Kadi, Nadira; Tahiri, Latifa; Amrani, Kawthar; Khammar, Zineb; Lahlou, Meriam; Berrady, Rhizlane; Rabhi, Samira; Tizniti, Siham; Bono, Wafaa; Harzy, Taoufik
Joint manifestations in scleroderma (Scl) and polymyositis (PM) are dominated by inflammatory arthralgia. Arthritis is less common and preferentially affects the hands, wrists, knees, and ankles. Involvement of the hip has been rarely reported in the literature. We report a case of coxitis diagnosed in a patient suffering from scleroderma-polymyositis overlap syndrome successfully treated by ultrasound-guided infiltration of triamcinolone hexacetonide PMID:27708891
Vimercati, Luigi; Lorusso, Antonio; L’Abbate, Nicola; Assennato, Giorgio
A case of bilateral carpal tunnel syndrome and ulnar neuropathy at the elbow in a 22-year-old pizza chef is described. An on-site analysis revealed that job tasks performed by the worker exposed him to a combination of biomechanical risk factors. Patient history and workplace observations suggest that occupational physical exposure may have caused the bilateral entrapment neuropathies. The present report underlines the advisability of a detailed occupational history in the case of entrapment neuropathies of the upper limbs commonly regarded as being related to biomechanical occupational exposure. PMID:21686375
Park, Hong-Kyun; Kim, Kyeong-Joon; Moon, Hye-Jin; Kim, Seon-Jeong; Yun, Chang-Ho; Park, Seong-Ho
Klüver-Bucy syndrome may result from affection of various location of brain. We report a case of Klüver-Bucy syndrome associated with isolated bilateral hippocampal atrophy without any abnormal lesion in other areas following status epilepticus. A 31-year-old man who had no significant medical history presented with status epilepticus after encephalitis of unknown etiology. He had been recovered from status epilepticus three weeks later, but afterwards he developed Klüver-Bucy syndrome: hyperphagia, hypersexuality, hypermetamorphosis, anterograde amnesia and dysosmia. Initial brain MRI showed T2 hyperintensity and swelling of isolated bilateral hippocampus, especially CA1 region without any abnormal lesion in other areas. One month later, follow-up brain MRI showed isolated bilateral hippocampal atrophy. This is a meaningful case report because this case differs from other reports of Klüver-Bucy syndrome in humans in that the anatomic abnormalities revealed by MRI were very selective. We report this case because this case is very educative for above reason. Moreover, this report would give us additional information of the relationship between human behavior and limbic system. PMID:24649454
Park, Hong-Kyun; Kim, Kyeong-Joon; Moon, Hye-Jin; Kim, Seon-Jeong; Yun, Chang-Ho; Park, Seong-Ho
Klüver-Bucy syndrome may result from affection of various location of brain. We report a case of Klüver-Bucy syndrome associated with isolated bilateral hippocampal atrophy without any abnormal lesion in other areas following status epilepticus. A 31-year-old man who had no significant medical history presented with status epilepticus after encephalitis of unknown etiology. He had been recovered from status epilepticus three weeks later, but afterwards he developed Klüver-Bucy syndrome: hyperphagia, hypersexuality, hypermetamorphosis, anterograde amnesia and dysosmia. Initial brain MRI showed T2 hyperintensity and swelling of isolated bilateral hippocampus, especially CA1 region without any abnormal lesion in other areas. One month later, follow-up brain MRI showed isolated bilateral hippocampal atrophy. This is a meaningful case report because this case differs from other reports of Klüver-Bucy syndrome in humans in that the anatomic abnormalities revealed by MRI were very selective. We report this case because this case is very educative for above reason. Moreover, this report would give us additional information of the relationship between human behavior and limbic system.
Merle, Christian; Waldstein, Wenzel; Lipman, Joseph D; Kasparek, Maximilian F; Boettner, Friedrich
Background: Larsen syndrome is a rare genetic disorder caused by congenital weakness of the connective tissues. It can present with a variety of musculoskeletal and cardiovascular abnormalities. The current report describes two siblings with Larsen Syndrome who presented with severe bilateral hip arthritis and underwent one stage bilateral total hip arthroplasty (THA). The aim was to report on the clinical features of Larsen Syndrome and their implications for total hip replacement surgery. Methods: Two siblings, a 32 year-old female and a 30 year-old male, presented with severe bilateral hip arthritis and a history of Larsen Syndrome. Both patients underwent a detailed, multidisciplinary preoperative medical work up and radiological imaging including computer tomography. All four hips were operated using a cementless primary press-fit cup (Pinnacle, DePuy, Warsaw, IN) and a cementless modular stem system (S-ROM, DePuy, Warsaw, IN) utilizing a posterior approach. Prophylactic cerclages wires were placed proximal to the lesser trochanter before stem preparation and bone grafting of bone cysts in the greater trochanter was performed in all four hips. Results: After 2 years both patients reported significant improvements of function, pain and quality of life. The Oxford hip score improved from preoperative 21 (range 12-24) points up to 39 (range 38-41) points at 2-year follow up. Radiographic follow-up showed good graft incorporation and no signs of implant loosening. Conclusion: The current case report suggests that one stage bilateral THA is a feasible treatment option for young adults with Larsen syndrome and secondary arthritis of the hip. PMID:28144369
Osteen, Kristie D.; Haque, Shireen H.
Background Gluteal compartment syndrome is a rare occurrence traditionally found in settings of extended immobilization. Thrombolytics and medications with myositis as a potential side effect have also been implicated in a few isolated cases of spontaneous compartment syndrome. Early signs are pain on passive stretching and pain out of proportion to physical examination findings. Failure to recognize and definitively treat compartment syndrome within the first 24 to 36 hours can lead to permanent limb loss and morbidity from a host of systemic complications such as hyperkalemia, renal failure, and sepsis. Case Report We report a case of bilateral gluteal compartment syndrome in a 52-year-old patient following a right total knee revision. On postoperative day 2, physical examination after the patient became agitated and in severe distress from bilateral buttock pain showed that the right and left gluteal regions were tense, hard, and erythematous. Creatinine phosphokinase and liver function tests were significantly elevated. Following emergency fasciotomy, physicians thoroughly reviewed the operative course, medication history, and imaging studies. We withdrew simvastatin, a medication associated with spontaneous compartment syndrome, from our patient's daily medications. By day of discharge, both creatinine phosphokinase and liver function problems were decreasing, and the gluteal pain had significantly resolved. The etiology of bilateral gluteal compartment syndrome in our patient could have been a combination of intraoperative length and positioning with simvastatin-induced myositis. Obesity presented an additional risk factor. Conclusion This case highlights the importance of identifying patients at increased risk of compartment syndrome in the preoperative assessment and following them with more intensive intraoperative and postoperative monitoring. PMID:22778678
Osteen, Kristie D; Haque, Shireen H
Gluteal compartment syndrome is a rare occurrence traditionally found in settings of extended immobilization. Thrombolytics and medications with myositis as a potential side effect have also been implicated in a few isolated cases of spontaneous compartment syndrome. Early signs are pain on passive stretching and pain out of proportion to physical examination findings. Failure to recognize and definitively treat compartment syndrome within the first 24 to 36 hours can lead to permanent limb loss and morbidity from a host of systemic complications such as hyperkalemia, renal failure, and sepsis. We report a case of bilateral gluteal compartment syndrome in a 52-year-old patient following a right total knee revision. On postoperative day 2, physical examination after the patient became agitated and in severe distress from bilateral buttock pain showed that the right and left gluteal regions were tense, hard, and erythematous. Creatinine phosphokinase and liver function tests were significantly elevated. Following emergency fasciotomy, physicians thoroughly reviewed the operative course, medication history, and imaging studies. We withdrew simvastatin, a medication associated with spontaneous compartment syndrome, from our patient's daily medications. By day of discharge, both creatinine phosphokinase and liver function problems were decreasing, and the gluteal pain had significantly resolved. The etiology of bilateral gluteal compartment syndrome in our patient could have been a combination of intraoperative length and positioning with simvastatin-induced myositis. Obesity presented an additional risk factor. This case highlights the importance of identifying patients at increased risk of compartment syndrome in the preoperative assessment and following them with more intensive intraoperative and postoperative monitoring.
Fujimoto, Yasunori; Ohnishi, Yu-ichiro; Wakayama, Akatsuki; Yoshimine, Toshiki
Locked-in syndrome (LIS) usually occurs as a result of pontine lesions and has been classified into various categories on the basis of neurologic conditions, of which transient total mesencephalic LIS is extremely rare. A 53-year-old man presented with bilateral ptosis followed by a total locked-in state. In the clinical course, the patient successfully recovered with only left slight hemiparesis and skew deviation remaining. Magnetic resonance imaging revealed multiple ischemic lesions caused by thrombosis at the top of basilar artery, including the bilateral cerebral peduncles, tegmentum of the midbrain, and the right cerebellar hemisphere. Antecedent bilateral ptosis before the locked-in state may be related to ischemia in the central caudal nucleus of the oculomotor nuclei. We should pay attention to this easily missed condition during the treatment of ischemic stroke involving the basilar artery.
Entezari, Morteza; Karimi, Saeed; Feizi, Mohammadali
Susac syndrome (SS) is a rare retinal-cochlear-cerebral disease with an unclear etiology. A 35-year-old man presented with sudden painless vision loss in the right eye and 2 months later in the left eye with hemiparesis, behavioral changes, and hearing loss. Ophthalmic examinations revealed multiple branch retinal artery occlusions (BRAOs) in both eyes. Brain magnetic resonance imaging showed inflammatory changes with multiple “punched-out” lesions in the corpus callosum which confirmed the diagnosis of SS. Despite intravenous and oral corticosteroid therapy, the disease progressed with the development of new BRAOs, low vision in both eyes, and disability. Prompt diagnosis and early treatment may save the vision and even patient's life. PMID:27853020
Entezari, Morteza; Karimi, Saeed; Feizi, Mohammadali
Susac syndrome (SS) is a rare retinal-cochlear-cerebral disease with an unclear etiology. A 35-year-old man presented with sudden painless vision loss in the right eye and 2 months later in the left eye with hemiparesis, behavioral changes, and hearing loss. Ophthalmic examinations revealed multiple branch retinal artery occlusions (BRAOs) in both eyes. Brain magnetic resonance imaging showed inflammatory changes with multiple "punched-out" lesions in the corpus callosum which confirmed the diagnosis of SS. Despite intravenous and oral corticosteroid therapy, the disease progressed with the development of new BRAOs, low vision in both eyes, and disability. Prompt diagnosis and early treatment may save the vision and even patient's life.
Nassour, Dima N; Patel, Sudhirkumar V; Kosseifi, Semaan G; Jordan, Richard M; Peiris, Alan N
Bilateral non inflammatory salivary gland enlargement (sialadenosis) is seen with a diverse number of diseases. It is commonly recognized in alcoholism, anorexia and bulimia nervosa and HIV infections. The association between diabetes mellitus and sialadenosis has been reported rarely in the last three decades. We report a patient with sialadenosis in association with metabolic syndrome. We discuss the clinical implications of this novel association including possible regression of salivary gland enlargement with intensive glycemic and lipid control.
Papadimitriou, Konstantinos; Kountourakis, Panteleimon; Morakis, Emmanouil; Vassiliou, Vassilios; Barbounis, Vasileios; Ardavanis, Alexandros
Aromatase inhibitors are widely used as one of the main treatment options of both early and advanced hormone receptor-positive breast cancer in postmenopausal women. Unfortunately, musculoskeletal symptoms are often presented in patients treated with aromatase inhibitors (AIs), and, although the pathogenesis is unknown, postulated mechanisms have been described. Herein, to our knowledge, we present the first report of bilateral De Quervain syndrome related with AIs therapy with a review of the relevant literature.
Undas, Anetta; Ryś, Donata; Wegrzyn, Wojciech; Musiał, Jacek
A 40-year-old man with Fabry disease, confirmed by decreased leukocyte alpha-galactosidase A activity in 2001, complained of sudden bilateral deafness, as evidenced by clinical history and audiometry. Magnetic resonance of the brain revealed features typical of Fabry disease. Other clinical manifestations of the disease included: angiokeratoma, mild proteinuria with normal renal function, lymphoedema of the lower limbs, pre-excitation syndrome, myocardial hypertrophy.
Papadimitriou, Konstantinos; Kountourakis, Panteleimon; Morakis, Emmanouil; Vassiliou, Vassilios; Barbounis, Vasileios; Ardavanis, Alexandros
Aromatase inhibitors are widely used as one of the main treatment options of both early and advanced hormone receptor-positive breast cancer in postmenopausal women. Unfortunately, musculoskeletal symptoms are often presented in patients treated with aromatase inhibitors (AIs), and, although the pathogenesis is unknown, postulated mechanisms have been described. Herein, to our knowledge, we present the first report of bilateral De Quervain syndrome related with AIs therapy with a review of the relevant literature. PMID:22567020
Saha, Kaushik; Saha, Arnab; Mitra, Mrinmoy; Panchadhyayee, Prabodh
Rhupus syndrome is a rare syndrome characterized by overlap of rheumatoid arthritis (RA) and systemic lupus erythematosus (SLE). Our patient was a diagnosed case of RA and developed SLE 2 years after. She was a middle-aged woman, presented with bilateral pleural effusion with exacerbation of skin and joint symptoms of SLE. We diagnosed the case as tubercular pleural effusion by positive Mycobacterium tuberculosis in bactec 460 culture. She had also anti-phospholipid antibody positivity without any symptoms and signs of thrombosis.
Cruz Martínez, A; Arpa, J; Pérez Conde, M C; Ferrer, M T
The case of a 7-year-old girl, the only descendant of non-consanguineous parents, who presented typical features of the Schwartz-Jampel syndrome and electrophysiological evidence of bilateral carpal tunnel is reported. Conventional electromyogram (EMG) showed persistent and continuous electrical activity and high frequency discharges elicited spontaneously by movement of the needle or after voluntary activation. Electrical silence after phenytoin therapy was sometimes seen. Single fiber electromyography (SFEMG) showed that high frequency discharges had a complex configuration and multiple components. Occasionally the discharges showed a progressive decrease in amplitude. Increased jitter was also found in some potential pairs that had been isolated under voluntary contraction after phenytoin therapy. Motor and sensory conduction velocities on the median nerve were slowed bilaterally across the carpal tunnel. Bilateral carpal tunnel syndrome is an unusual condition in children and its clinical picture differs from that in adults. Carpal tunnel syndrome was not clinically suspected in the patient reported in this article and the diagnosis was confirmed by the conduction velocity study.
Ku, Eu Jeong; Hong, A Ram; Kim, Ye An; Bae, Jae Hyun; Chang, Mee Soo; Kim, Sang Wan
A 48-year-old woman was incidentally found to have bilateral adrenal masses, 2.8 cm in diameter on the right, and 2.3 cm and 1.7 cm in diameter on the left, by abdominal computed tomography. The patient had a medical history of hypertension, which was not being controlled by carvedilol, at a dose of 25 mg daily. She presented with signs and symptoms that suggested Cushing Syndrome. We diagnosed adrenocorticotropic hormone (ACTH)-independent Cushing Syndrome based on the results of basal and dynamic hormone tests. Adrenal vein sampling (AVS) was performed to localize a functioning adrenal cortical mass. AVS results were consistent with hypersecretion of cortisol from both adrenal glands, with a cortisol lateralization ratio of 1.1. Upon bilateral laparoscopic adrenalectomy, bilateral ACTH-independent adrenal adenomas were found. The patient's signs and symptoms of Cushing Syndrome improved after surgery just as the blood pressure was normalized. After surgery, the patient was started on glucocorticoid and mineralocorticoid replacement therapy.
Tamgadge, Avinash; Tamgadge, Sandhya; Bhatt, Daivat; Bhalerao, Sudhir; Pereira, Treville; Padhye, Mukul
Dentigerous cysts are the most common developmental cysts of the jaws, most frequently associated with impacted mandibular third molar teeth and impacted canines. Bilateral dentigerous cysts are rare and occur typically in association with a developmental syndrome. The occurrence of bilateral dentigerous cysts is rare and, to date, only 21 cases have been reported in literature till 2009. Here, we report a case of bilateral dentigerous cysts in maxillae of non-syndromic 10-year-old patient with brief review of literature. PMID:21731287
Kuzniecky, R; Andermann, F; Guerrini, R
We studied the frequency, clinical and EEG characteristics, and outcome of the epileptic syndrome in 31 patients with a congenital neurologic syndrome characterized by pseudobulbar palsy, cognitive deficits, and bilateral perisylvian polymicrogyria. Seizures were present in 27 of 31 patients (87%) and usually began between the ages of 4 and 12 years; they commonly consisted of atypical absence, atonic/tonic, and generalized tonic-clonic seizures. Partial attacks were present in 26%. EEG demonstrated generalized spike and wave abnormalities and, less frequently, multifocal discharges, predominantly in centro-parietal regions. Seizures were poorly controlled in 65%, with the remaining patients well controlled. Seven patients underwent callosotomy, which resulted in seizure improvement. This study indicates that the epileptic spectrum in this syndrome is broad but follows predictable patterns. Callosotomy is a valuable treatment strategy in those with intractable drop attacks.
Jones, Gabriela E; Robertson, Lisa; Maniyar, Amit; Shammas, Christos; Phelan, Marie M; Vasudevan, Pradeep C; Tanteles, George A
Steinfeld syndrome (MIM #184705) was first reported in 1982. It is characterised by holoprosencephaly and limb defects, however other anomalies may also be present. Following the initial description, three further cases have been reported in the literature. We report on a 23-year-old girl, with features of microform holoprosencephaly and bilateral congenital elbow dislocation in association with hypoplastic radial heads. She was identified to have a variant in the CDON gene inherited from her father who had ocular hypotelorism, but no other clinical features. We discuss the clinical features of Steinfeld syndrome, and broaden the phenotypic spectrum of this condition. Structural analysis suggests that this variant could lead to destabilisation of binding of CDON with hedgehog proteins. Further work needs to be done to confirm whether mutations in the CDON gene are the cause of Steinfeld syndrome.
Cala, Cather M.; Kole, Lauren; Sami, Naveed
Sweet's syndrome is an inflammatory systemic disease which has been associated with various underlying causes. The disease can involve multiple areas of the body including the skin and neurological system. There have been only two cases which have described otological involvement. This report presents a patient who developed loss of hearing secondary to Sweet's syndrome after developing cutaneous involvement along with peripheral neuropathy. Despite the patient's skin and neuropathy noticing improvement with intravenous immunoglobulin and azathioprine, he required bilateral cochlear implants for partial recovery of his hearing loss. This case highlights the need to recognize Sweet's syndrome as a complicated disease process where the role of otolaryngologists is important in the multidisciplinary coordination of care in both diagnosis and treatment. PMID:26770858
Tchernev, Georgi; Mangarov, Hristo; Lozev, Ilia; Pidakev, Ivan; Lotti, Torello; Wollina, Uwe; Gianfaldoni, Serena; Semkova, Kristina; Lotti, Jacopo; França, Katlein; Batashki, Atanas
We present a 35-year-old male patient with Bureau-Barrière syndrome. Bureau-Barrière syndrome is an ulcero-mutilating acropathy almost invariably associated with excessive alcohol intake. It presents with a triad of trophic skin changes with recurrent ulcerations, bone lesions and nerve damage. The clinical presentation includes chronic painless plantar ulcerations with periulcerous hyperkeratosis, hyperhidrosis, livedoid skin colour, nail dystrophy, widening and infiltration of the toes and common interdigital mycoses. Other non-specific skin changes related to the alcohol consumption are commonly observed as well. The condition affects mainly middle-aged men suffering from alcoholism. Often a bilateral location at the lower limb of male alcoholics has been described, as in our patient. Successful treatment of the Bureau-Barrière syndrome requires an interdisciplinary approach. Cessation of alcohol intake and smoking is of paramount importance. PMID:28785364
Bothun, Erick D; Kao, Tim; Guo, Yan; Christiansen, Stephen P
Klippel-Trenaunay syndrome (KTS) consists of a vascular nevus involving an extremity, varicosities of that extremity, and hypertrophy of bone and soft tissue. When arteriovenous malformation is also present, it is called Klippel-Trenaunay-Weber syndrome (KTWS). Ophthalmic features of these syndromes include vascular anomalies of the orbit, iris, retina, choroid, and optic nerve. We report a case of a 16-year-old girl with KTS who was found to have bilateral optic nerve and chiasmal gliomas, optic disk drusen, and acquired myelination of the retinal nerve fiber layer. These findings have not been previously reported to be associated with KTS or KTWS. Copyright © 2011 American Association for Pediatric Ophthalmology and Strabismus. Published by Mosby, Inc. All rights reserved.
Sargsyan, Sona; Rahne, Torsten; Kösling, Sabrina; Eichler, Gerburg; Plontke, Stefan K
Hearing is of utmost importance for normal speech and social development. Even children who have mild or unilateral permanent hearing loss may experience difficulties with understanding speech, as well as problems with educational and psycho-social development. The increasing advantages of middle-ear implant technologies are opening new perspectives for restoring hearing. Active middle-ear implants can be used in children and adolescents with hearing loss. In addition to the well-documented results for improving speech intelligibility and quality of hearing in sensorineural hearing loss active middle-ear implants are now successfully used in patients with conductive and mixed hearing loss. In this article we present a case of successful, single-stage vibroplasty, on the right side with the fixation of the FMT on the stapes and PORP CLiP vibroplasty on the left side in a 6-year-old girl with bilateral mixed hearing loss and multiple dyslalia associated with Franceschetti syndrome (mandibulofacial dysostosis). CT revealed bilateral middle-ear malformations as well as an atretic right and stenotic left external auditory canal. Due to craniofacial dysmorphia airway and (post)operative, management is significantly more difficult in patients with a Franceschetti syndrome which in this case favoured a single-stage bilateral procedure. No intra- or postoperative surgical complications were reported. The middle-ear implants were activated 4 weeks after surgery. In the audiological examination 6 months after surgery, the child showed 100% speech intelligibility with activated implants on each side.
Misiolek, Maciej; Namyslowski, Grzegorz; Karpe, Jacek; Ziora, Dariusz; Misiolek, Hanna; Czecior, Eugeniusz; Scierski, Wojciech
The analysis of the correlation between bilateral vocal cord paralysis and the occurrence of obstructive sleep apnea syndrome and snoring is presented. The aim of the study was to establish whether the decrease of the air flow in the upper airway in patients with bilateral vocal cord paralysis involves OSAS and/or snoring occurrence and whether arytenoidectomy affects an improvement of breathing parameters measured during sleep. Fourteen patients with bilateral vocal cord paralysis underwent Poly-MESAM examination before and 3 months after arytenoidectomy. They had never complained of snoring before. The Epworth sleepiness scale was used to quantify excessive daytime somnolence. The RDI, DI, mean saturation and percentage of snoring, loud snoring and sleep without snoring were estimated and compared pre- and postoperatively. The results were compared by the Student's t-test for dependent values. No significant differences were shown between the Epworth scores before and after the treatment. The RDI, DI and mean saturation were normal before and after the operation. The percentage of loud snoring decreased and the percentage of sleep without snoring increased significantly after arytenoidectomy in both cases. The mechanism of snoring in patients with vocal cord paralysis seems to be similar to OSAS. The difference consists in the level of flow limitation. On the basis of the results there is no reason to diagnose OSAS and UARS in patients with bilateral vocal cord paralysis. On the other hand, the intensive snoring that occurs after paralysis was significantly reduced as a result of arytenoidectomy.
Oh, Mi Kyung; Jeon, Woo Jae; Kwon, Yong Deok; Kim, Kyoung Hun
A 33-year-old male visited the emergency room with abdominal pain which developed after a vomiting episode. Based on the pneumomediastinum findings from a chest radiograph and a contrast-enhanced chest and abdominal computed tomography scan, the patient was diagnosed with Boerhaave's syndrome. Preoperative radiologic findings showed no pneumothorax or pleural effusion. Once anesthesia was administered, the patient developed near complete cardiopulmonary collapse due to a bilateral tension pneumothorax, which was treated by bilateral thoracentesis, followed by chest tube insertion. Despite a left side rupture, the damaged right lung was unable to overcome single right ventilation, so the surgery was completed via right thoracotomy. The ruptured site was treated, and the patient was transferred to the intensive care unit. We discuss the anesthetic implications of this disease and how to prevent fatal complications. PMID:27066209
Jefferies, James Gordon; Carter, Tom; White, Tim Oliver
We present the case of a young man with a 48 h delayed presentation of bilateral lower limb acute compartment syndrome (ACS) affecting the anterior compartments following an extended period of dancing at a music festival. On making the diagnosis of ACS, the patient was immediately taken to theatre for fasciotomies and compartmental decompression. Repeat look fasciotomies revealed further necrosis to the muscles of the anterior compartments bilaterally and, effectively, all the muscle bellies within the anterior compartments were excised. The patient has been left with a significant functional deficit and disability. This case highlights the importance of timely diagnosis of ACS as delay in presentation can impact significantly on subsequent functional outcome and quality of life.
Pereira da Silva, Janaina; Vieira Balla, Bruno; Neves Ferreira, Rodrigo; Chambô Filho, Antônio
Androgen insensitivity syndrome is the most common cause of male pseudohermaphroditism and the third most common cause of primary amenorrhea. This genetic alteration is a consequence of inherited defects on the X chromosome causing total or partial damage to the intrauterine virilization process due to functional abnormalities in the androgen receptors. The present report describes a 22-year-old patient with a female phenotype and a 46, XY karyotype, presenting with bilateral inguinal tumors. The tumors were surgically removed at the Santa Casa de Misericórdia Hospital in Vitória, Espírito Santo, Brazil. Pathology revealed bilateral testicles with Sertoli cell tumors. According to the international literature, prophylactic gonadectomy following puberty is recommended due to the progressive risk of neoplastic transformation in the residual gonads. PMID:28386495
Milla, Elena; Leszczynska, Ania; Rey, Amanda; Navarro, Manuel; Larena, Concepcion
We report the case of a 41-year-old woman with bilateral lens subluxation and medically uncontrolled glaucoma in whom Marfan syndrome (MFS) was diagnosed. The patient underwent complete clinical eye and systemic examinations and blood samples were drawn for mutational screening of fibrillin 1 gene (FBN1). The patient was diagnosed with MFS on a clinical basis and according to the Ghent criteria and the genetic testing revealed a novel heterozygous mutation in the FBN1 gene. The patient required pars plana vitrectomy with lensectomy and Ahmed valve implantation in the vitreous cavity to control her severe glaucoma. The diagnosis of a bilateral lens luxation must be followed by complete systemic examination and genetic analysis of the FBN1 gene in order to discard MFS due to its severe systemic complications. Frequently, the condition causes an aggressive secondary glaucoma that requires surgical treatment with lensectomy, vitrectomy, and drainage device implantation in order to avoid its devastating progression toward glaucomatous optic atrophy.
Makimoto, Go; Asano, Michiko; Fujimoto, Nobukazu; Fuchimoto, Yasuko; Ono, Katsuichiro; Ozaki, Shinji; Taguchi, Koji; Kishimoto, Takumi
Sjögren's syndrome (SS) is a systemic autoimmune disease characterized by sicca symptoms. Interstitial pulmonary fibrosis and tracheobronchial sicca are the most common symptoms of pulmonary involvement in primary SjS, and they are rarely accompanied by serositis such as pleuritis or pericarditis. We report a case of SS presenting initially with bilateral pleural effusions. A 63-year old man was admitted to our hospital with a one-month history of cough, dyspnea, and right chest pain. Chest-computed tomography revealed bilateral pleural effusions. Serum anti-SS-A antibody titer was 1 : 256. Ophthalmological examination revealed a positive Schirmer test. Lip biopsy showed atrophy and plasmacytic infiltration of the salivary gland. Corticosteroid treatment was initiated. Pleural effusions were almost completely resolved by day 30. The patient has not experienced any recurrence. PMID:23198246
Amer, Tarek A
Möbius syndrome is a rare congenital disorder characterized by a variety of cranial nerve defects. Although there are several variants of Möbius syndrome depending on which cranial nerves are affected, the commonest form involves facial and abducens cranial nerve paralysis. Despite several strategies for bilateral smile reconstruction that have been advocated, the condition still presents a challenge to the plastic surgeon. The most acceptable method nowadays is bilateral free neurovascularized muscle transfer. The author represents a new method of using a single hypoglossal nerve to supply both free flaps in a Möbius patient. The procedure is done on 2 stages using both latissimus dorsi muscles and a single hypoglossal nerve. The patient regained a natural symmetric smile 12 months after the first stage. Despite hemilingual atrophy, no tongue morbidity was observed. The author concludes that despite the limitation of the study, the hypoglossal nerve is a good nerve source to supply both free flaps for smile reconstruction in Möbius syndrome.
Guhra, M; Poppenborg, M; Hagemeister, C
Bilateral lesions of the opercula frontoparietalia are uncommon and cause a symptom cluster including anarthria, severe dysphagia, inability to chew and sometimes facial paresis. At the same time there is an automatic-voluntary dissociation, meaning that the affected muscles are functional within the scope of involuntary movements. This syndrome is known as Foix-Chavany-Marie syndrome (FCMS), (bilateral) anterior operculum syndrome or facio-pharyngo-glosso-masticatory diplegia. We report the case of a patient who suffered from FCMS after having infarctions in the territory of the middle cerebral artery on each side 4 years apart.
Pérez-de-Heredia-Torres, Marta; Martínez-Piédrola, Rosa M; Cigarán-Méndez, Margarita; Ortega-Santiago, Ricardo; Fernández-de-Las-Peñas, César
The aim of the current study was to investigate fine motor control ability and manual dexterity women with fibromyalgia syndrome (FMS) without symptoms in the upper extremity compared to healthy women. Subtests of the Purdue Pegboard Test (one-hand, bilateral and assembly) and of the Jebsen-Taylor hand-function test (writing, turning cards, picking up small, light and large heavy objects, simulated feeding and stacking checkers) were evaluated bilaterally in 20 women with FMS (aged 35-55 years) without symptoms in the upper limb and 20 age- and hand dominance-matched healthy women. Differences between sides and groups were analysed with several analysis of variance (ANOVA). The ANOVA revealed significant differences between groups (P < 0.001) and sides (P = 0.007) for one-hand pin placement subtest: women with FMS showed bilateral worse scores than controls. Patients also exhibited significantly lower scores in bilateral pin placement and assembly subtests when compared to healthy controls (P < 0.001). The ANOVA also revealed significant differences between groups for writing, turning over cards, picking up small objects, stacking checkers, picking up large light objects and picking up large heavy objects (all, P < 0.001): women with FMS needed more time for these subtests than healthy women with both hands. No difference for simulated feeding was found between groups. Our findings revealed bilateral deficits in fine motor control ability and manual dexterity in patients with FMS without symptoms in the upper extremity. These deficits are not related to the clinical features of the symptoms supporting an underlying central mechanism of altered motor control.
de la Llave-Rincón, Ana Isabel; Fernández-de-las-Peñas, César; Fernández-Carnero, Josué; Padua, Luca; Arendt-Nielsen, Lars; Pareja, Juan A
The aim of the current study was to evaluate bilaterally warm/cold detection and heat/cold pain thresholds over the hand/wrist in patients with carpal tunnel syndrome (CTS). A total of 25 women with strictly unilateral CTS (mean 42 +/- 10 years), and 20 healthy matched women (mean 41 +/- 8 years) were recruited. Warm/cold detection and heat/cold pain thresholds were assessed bilaterally over the carpal tunnel and the thenar eminence in a blinded design. Self-reported measures included both clinical pain history (intensity, location and area) and Boston Carpal Tunnel Questionnaire. No significant differences between groups for both warm and cold detection thresholds in either carpal tunnel or thenar eminence (P > 0.5) were found. Further, significant differences between groups, but not between sides, for both heat and cold pain thresholds in both the carpal tunnel and thenar eminence were found (all P < 0.001). Heat pain thresholds (P < 0.01) were negatively correlated, whereas cold pain thresholds (P < 0.001) were positively correlated with hand pain intensity and duration of symptoms. Our findings revealed bilateral thermal hyperalgesia (lower heat pain and reduced cold pain thresholds) but not hypoesthesia (normal warm/cold detection thresholds) in patients with strictly unilateral CTS when compared to controls. We suggest that bilateral heat and cold hyperalgesia may reflect impairments in central nociceptive processing in patients with unilateral CTS. The bilateral thermal hyperalgesia associated with pain intensity and duration of pain history supports a role of generalized sensitization mechanisms in the initiation, maintenance and spread of pain in CTS.
Yoshimura, N; Asada, T; Matsuda, H; Nohara, H; Higami, T; Nishiwaki, M; Mukohara, N; Chibana, M; Ogawa, K
A 17-year-old male patient with Marfan syndrome was admitted due to recurrent bilateral pneumothorax which had recurred totally 11 times during the past 3 years. For the treatment of obstinately continuing right pneumothorax resection of bullae in combination with pleuropexy using OK 432 was effective. Two months thereafter Bentall operation with a composite graft consisting of a woven Dacron tube and a Björk-Shiley 27 mm aortic valve prosthesis was performed for his anuloartic ectasia. Left pneumothorax recurred 2 weeks after Bentall operation. But it was treated successfully with OK 432 injection into the left pleural cavity. Now, he is doing well as a student.
Sundu, Cem; Dinç, Erdem; Sari, Ayça; Ünal, Selma; Dursun, Özer
A 14-year-old boy with sickle cell disease presented with preseptal cellulitis findings as proptosis, eyelid edema, and hyperemia. His best corrected visual acuity in the right eye was 20/20 and 16/20 in the left eye. He had limited ductions in vertical and lateral gazes in both eyes. Bilateral venous tortuosity was observed in posterior segment examination. Orbital bone infarction and subperiosteal hematoma were seen in magnetic resonance imaging. He was diagnosed as having orbital compression syndrome secondary to vaso-occlusive crisis of sickle cell disease and was treated with intravenous ampicilin-sulbactam and methylprednisolone.
Cerny, Rudolf; Rozsypal, Hanus; Kozner, Pavel; Machala, Ladislav
A 38-year-old HIV-1 infected woman affected with bilateral tonic pupils. Ophthalmologic examination confirmed Holmes-Adie syndrome (HAS), and peripheral distal polyneuropathy, orthostatic hypotension and leg hyperhidrosis were detected on further workup. The HAS can be either idiopathic or associated with neuropathy of various etiology (autoimmune, paraneoplastic and infectious). In our patient, the pupillotonia was the first and early symptom of hitherto unrecognized HIV neuropathy. HAS has been previously observed in association with syphilis, Lyme borreliosis, herpes simplex and parvovirus B19 infection. Our case is the first report of HAS in a case of HIV infection.
Anand, Pria; Mann, Sharan K; Fischbein, Nancy J; Lansberg, Maarten G
A 39-year-old woman presented with a right-hemispheric stroke 1 year after she had suffered a left-hemispheric stroke. Her diagnostic workup was notable for bilateral occlusions of the internal carotid arteries at their origins and a positive lupus anticoagulant antibody test. There was no evidence of carotid dissection or another identifiable cause for her carotid occlusions. These findings suggest that the antiphospholipid antibody syndrome may be implicated in the pathological changes that resulted in occlusions of the extracranial internal carotid arteries. Young stroke patients who present with unexplained internal carotid artery occlusions may benefit from testing for the presence of antiphospholipid antibodies.
Anand, Pria; Mann, Sharan K.; Fischbein, Nancy J.; Lansberg, Maarten G.
A 39-year-old woman presented with a right-hemispheric stroke 1 year after she had suffered a left-hemispheric stroke. Her diagnostic workup was notable for bilateral occlusions of the internal carotid arteries at their origins and a positive lupus anticoagulant antibody test. There was no evidence of carotid dissection or another identifiable cause for her carotid occlusions. These findings suggest that the antiphospholipid antibody syndrome may be implicated in the pathological changes that resulted in occlusions of the extracranial internal carotid arteries. Young stroke patients who present with unexplained internal carotid artery occlusions may benefit from testing for the presence of antiphospholipid antibodies. PMID:24707268
Purple urine bag syndrome (PUBS) is a constellation of findings resulting in purple discoloration of the urine and/or urine drainage bag(s) occurring in patients with long-term urinary indwelling catheters. Other causative factors may include constipation, female gender, the presence of bacteria containing sulphatase and phosphatase enzymes, and alkaline urine. While the contributing factors for PUBS are linked with high morbidity, PUBS itself is a benign condition. A case study of monolateral PUBS in a patient with bilateral nephrostomy tubes (NTs) is presented.
Background Capsular warning syndrome was first described in 1993, featured with repetitive episodes of motor and/or sensory dysfunction without cortical signs. Recently, it has been demonstrated that clinically typical capsular warning syndrome can be associated with pontine infarct and the term â€œpontine warning syndromeâ€� was coined. Case Presentation A 54-year-old woman with a history of hypertension was seen with profound left-sided hemiplegia. She had had 3 episodes of left-sided weakness before complete hemiplegia. Her speech was slurred. Left central facial palsy and hemiglossoplegia were presented. Her left plantar response was extensor and bilateral posterior internuclear ophthalmoplegia was seen on neurologic examination. Biochemical tests revealed hyperglycemia and dyslipidemia on the next day. MRI demonstrated an acute right paramedian pontine infarct. The patient was commenced on oral clopidogrel, atorvastatin and acarbose. After 23 days of hospitalization, she was discharged with severe left hemiplegia. Conclusions 1) Pontine warning syndrome may be underestimated and understudied. 2) Posterior internuclear ophthalmoplegia is a rare clinical sign in cerebrovascular diseases, while it can help to locate a brainstem lesion rather than an internal capsular one. 3) Blood pressure lowing administration may be improper for patients with pontine warning syndrome. PMID:20584318
Reincke, Martin; Ritzel, Katrin; Oßwald, Andrea; Berr, Christina; Stalla, Günter; Hallfeldt, Klaus; Reisch, Nicole; Schopohl, Jochen; Beuschlein, Felix
Our aim was to review short- and long-term outcomes of patients treated with bilateral adrenalectomy (BADx) in ACTH-dependent Cushing's syndrome. We reviewed the literature and analysed our experience with 53 patients treated with BADx since 1990 in our institution. BADx is considered if ACTH-dependent Cushing's syndrome is refractory to other treatment modalities. In Cushing's disease (CD), BADx is mainly used as an ultima ratio after transsphenoidal surgery and medical therapies have failed. In these cases, the time span between the first diagnosis of CD and treatment with BADx is relatively long (median 44 months). In ectopic Cushing's syndrome, the time from diagnosis to BADx is shorter (median 2 months), and BADx is often performed as an emergency procedure because of life-threatening complications of severe hypercortisolism. In both situations, BADx is relatively safe (median surgical morbidity 15%; median surgical mortality 3%) and provides excellent control of hypercortisolism; Cushing's-associated signs and symptoms are rapidly corrected, and co-morbidities are stabilised. In CD, the quality of life following BADx is rapidly improving, and long-term mortality is low. Specific long-term complications include the development of adrenal crisis and Nelson's syndrome. In ectopic Cushing's syndrome, long-term mortality is high but is mostly dependent on the prognosis of the underlying malignant neuroendocrine tumour. BADx is a relatively safe and highly effective treatment, and it provides adequate control of long-term co-morbidities associated with hypercortisolism. © 2015 European Society of Endocrinology.
Newaskar, Vilas; Rajmohan, Sushmita; Dashore, Dolly
Odontogenic Keratocyst (OKC) also termed as Keratocystic Odontogenic Tumour (KCOT) (WHO 2005) is a pathology with unique behavior because of which it is under much scrutiny and continued study. The pathology usually presents itself commonly in mandible and less commonly in maxilla. The occurrence of KCOT in maxillary sinus is reported as rare and multiple occurrences are mostly associated along with the presence of Nevoid Basal Cell Carcinoma (NBCC) syndrome. Here, we present a rare case of bilateral Maxillary OKC involving maxillary sinuses, without the presence of NBCC syndrome. An interesting feature of this case is the presence of left upper third molar in ectopic position in maxillary sinus and a vertically impacted right third molar suggesting an origin from the dental lamina. PMID:27656578
Kempermann, G; Neumann, H P; Scheremet, R; Volk, B; Mann, W; Gilsbach, J; Laszig, R
A case of bilateral endolymphatic sac tumours is reported. In a patient with von Hippel-Lindau syndrome, tumour growth in the right cerebellopontine angle caused deafness. The tumour was removed and classified as a metastasis from a thyroid carcinoma. However, on thyroidectomy no primary neoplasm could be found. Eight years later a similar tumour was operated on in the left petrosal bone. Histological appearance, immunocytochemical findings, and the clinical context gave evidence that the tumours had to be reclassified as endolymphatic sac tumours--extremely rare entities. The report supports the hypothesis, suggested by the few earlier case reports, that endolymphatic sac tumours could be one of the inherent tumour manifestations in von Hippel-Lindau syndrome. Images PMID:8795608
Taşdemir, Arzu; Karaman, Hatice; Ünal, Dilek; Mutlu, Hasan
Stewart-Treves syndrome is an angiosarcoma that occurs because of chronic lymphedema, which in most cases is a complication after mastectomy with axillary node dissection and postoperative radiation. Prognosis for this rare tumor is poor. The best therapy is early and radical excision. Chronic lymphedema seems to be an important pathogenic factor. We report a 59-year-old patient with chronic lymphedema and lymphangiosarcoma of the left upper limb who had a left modified radical mastectomy with axillary node dissection and postoperative radiation nine years ago. Additionally, the patient underwent a right modified radical mastectomy with axillary node dissection and postoperative radiation one year ago. In this report, we present a case of Stewart-Treves syndrome after the patient was operated for bilateral breast carcinoma, a review of literature, and principles of treatment.
Malcolm, George L; Barton, Jason J S
Bálint's syndrome is characterized by visuospatial dysfunction, with failure to attend to multiple objects in space and poor spatial localization manifested as impaired reaching and saccadic targeting. Less investigated in this disorder is perceptual processing along the dimension of time. We studied the performance of a patient with Bálint's syndrome on two oddity paradigms in which she had to indicate which of three objects was different in color, shape, or structure. Her initial difficulty with processing multiple objects present simultaneously in different locations recovered, but she had persistent difficulty processing objects seen sequentially at the same location. Further studies showed that this deficit was not due to impairments in sustained attention or in distributing attention over time, but to impaired processing of temporal sequences. The deficit was also present with auditory stimuli, indicating a multimodal failure of temporal sequencing. These findings show that bilateral parietal lesions affect not only the spatial but also the temporal organization of perception.
Kamusella, Peter; Andresen, Reimer
We present the case of a man of 47 years with vertical and horizontal paresis of view combined with periorbital pain that developed initially on the right side but extended after 3-4 days to the left. Gadolinum uptaking tissue in the cavernous sinus was shown by MRI of the orbital region in the T1 spin echo sequence with fat saturation (SEfs) with a slice thickness of 2 mm. As no other abnormalities were found and the pain resolved within 72 hours of treatment with cortison a bilateral Tolosa-Hunt Syndrome (THS) was assumed. THS is an uncommon cause for Painful Ophthalmoglegia (PO) and only few cases of bilateral appearance have been reported. Even though the diagnostic criteria for THS oblige unilateral symptoms we suggest that in patients with bilateral PO THS should not be excluded as a differential diagnosis. Further more when using MRI to detect granulomatous tissue in the orbital region the chosen sequence should be T1 SEfs and slice thickness should possibly be as low as 2 mm, as granulomas are often no larger than 1-2 mm. PMID:27134970
Harashima, Shiho; Taira, Takaomi; Hori, Tomokatsu
The authors report a case of chronic attackwise pain in the bilateral feet for five years due to tethered cord syndrome. Despite extensive examinations, this condition had been overlooked. The patient is a 21-year-old man. He had suffered attackwise pain resembling sticking a thumbtack in the soles of his feet, since he was 16 years old. The pain appeared several times a day and continued for 30 seconds to 30 minutes for 5 years. Physical examination revealed hammer toes and high-arched feet. The fingers and knee joints showed hyperextension. The neurological findings showed weakness of toe extension, hyporeflexia of deep tendon reflexes in the leg. Mild hypesthesia was seen in the bilateral soles. Myelography showed sacral dural ectasia. Magnetic resonance images showed dorsal displacement of the conus medullaris, the filum terminale and the cauda equina. A computed tomographic scan after myelography also showed a dorsally located thick filum terminale (the diameter is 2 mm). Surgery disclosed thick and tight filum terminale directly under the dura mater. Its flexibility was diminished. Abnormal lesions such as lipoma, spinal dysraphysm, diastematomyelia, myelomeningocele were not observed. After the untethering operation, the pain attacks decreased dramatically. The condition of the present case is adult onset tethered cord Group 2 described by Yamada. When unusual pain is manifested, we always have to keep this syndrome in mind.
Roy, K K; Baruah, Jinee; Moda, Nidhi; Kumar, Sunesh
Laparoscopic ovarian drilling (LOD) has been put forward as the treatment of choice in women with clomiphene citrate (CC)-resistant polycystic ovary syndrome (PCOS), with tubo-ovarian adhesion formation as the major disadvantage. Our study proposed to compare the efficacy of laparoscopic unilateral ovarian drilling with bilateral ovarian drilling in terms of ovulation and pregnancy rate with the expected advantage of decreasing postoperative adhesion rate and change in fimbiro ovarian relationship with unilateral drilling. This prospective randomized study included 44 patients with anovulatory infertility due to PCOS. Twenty-two patients underwent unilateral ovarian drilling in group-I and 22 patients underwent bilateral ovarian drilling in group-II between June 2005 and June 2007. The number of drilling site in each ovary was limited to five. The clinical and biochemical response, ovulation and pregnancy rates over a follow-up period of 1 year were compared. Tubo-ovarian adhesion rate was compared during cesarean section or during repeat laparoscopy. There was no statistical difference between the two groups in terms of clinical and biochemical response, ovulation rate and pregnancy rate. Postoperatively, tubo-ovarian adhesions could be assessed in 36.3% of the patients and no adhesions were found in a single case in either group. Unilateral drilling cauterization of ovary is equally efficacious as bilateral drilling in inducing ovulation and achieving pregnancy. Unilateral ovarian drilling may be a suitable option in clomiphene citrate resistant infertility patient of PCOS which can replace bilateral ovarian drilling with the potential advantage of decreasing the chances of adhesion formation.
Wolter, Tilman; Kieselbach, Kristin
Spinal cord stimulation (SCS) has been described in a variety of neuropathic and vasospastic pain conditions including Raynaud's syndrome. We report here the outcome of single lead SCS in the case of a 49-year-old woman with severe Raynaud's syndrome, which had failed to respond to medical therapy. With a single quadripolar cervical lead in midline position at the C2/C3 level sustained pain relief of the bilateral pain was accomplished. Pain scores sank from 7/10 to 2-3/10 on the nominal analog scale and remained stable more than nearly four years by now. Treatment of bilateral pain in Raynaud's syndrome with SCS in a single technique is feasible. Advantages and disadvantages as compared with stimulation with bilateral leads are discussed. © 2011 International Neuromodulation Society.
Pillai, Manju R; Hasini, P P; Ahuja, Ashish; Krishnadas, S R
A 6-year-old girl presented with blurred vision and was found to have elevated intraocular pressure (IOP) and glaucomatous optic disc damage in both eyes. She also displayed capillary malformations on the face (port-wine stain), upper back and all four limbs, angiomatosis in the brain and had hypertrophy of the left upper and lower limbs typical of overlapping Sturge-Weber syndrome and Klippel-Trenaunay syndromes. She was initially managed with IOP lowering topical medications but required trabeculectomy in the right eye followed by Ahmed valve implantation in both eyes. Despite multiple measures over a 7-year period, her IOP still remained uncontrolled with gradual progression of the glaucomatous damage. This case exhibits a very rare occurrence of overlapping syndromes reported only a handful of times in literature. Most cases with Sturge-Weber syndrome have ipsilateral glaucoma affecting the eye on the same side as the port-wine stain. This case presented with bilateral refractory childhood glaucomas, which is exceedingly rare.
Pillai, Manju R; Hasini, P P; Ahuja, Ashish; Krishnadas, S R
A 6-year-old girl presented with blurred vision and was found to have elevated intraocular pressure (IOP) and glaucomatous optic disc damage in both eyes. She also displayed capillary malformations on the face (port-wine stain), upper back and all four limbs, angiomatosis in the brain and had hypertrophy of the left upper and lower limbs typical of overlapping Sturge–Weber syndrome and Klippel–Trenaunay syndromes. She was initially managed with IOP lowering topical medications but required trabeculectomy in the right eye followed by Ahmed valve implantation in both eyes. Despite multiple measures over a 7-year period, her IOP still remained uncontrolled with gradual progression of the glaucomatous damage. This case exhibits a very rare occurrence of overlapping syndromes reported only a handful of times in literature. Most cases with Sturge–Weber syndrome have ipsilateral glaucoma affecting the eye on the same side as the port-wine stain. This case presented with bilateral refractory childhood glaucomas, which is exceedingly rare. PMID:28724825
Yamashiro, Kazuo; Kunoki, Makiko; Miura, Yoshiharu; Tomiyama, Junji; Mochizuki, Hideki; Mizuno, Yoshikuni
We report a 45 years old right-handed woman who developed acute respiratory distress syndrome (ARDS) after the operation for rupture of an ovarian cyst. One week after the onset of ARDS, she presented visual disturbance and Gerstmann syndrome. MRI T2-weighted images demonstrated abnormal high intensity lesions involving the gray and white matter of the occipital lobes bilaterally extending to the parietal lobes. Based on these findings, she was diagnosed as having posterior leukoencephalopathy syndrome (PLES). Her neurologic symptoms gradually improved, however, she started to complain of difficulty in grasping a cup placed on her peripheral visual fields. Neurological examination revealed no visual disturbance, weakness or cerebellar ataxia. She could easily reach objects presented in the central visual field, however, she could not grasp objects presented peripheral visual fields, while she was looking straight ahead. This disorder was observed both in the right and left visual field, whether she used the right hand or the left hand. We thought she had ataxie optique of Garcin. She was noted to have bilateral both direct and crossed ataxie optique. Ataxie optique is characterized by disturbance in reaching objects presented in the peripheral visual field. The underlying pathophysiologic mechanism is believed to be disconnection of the fibers between the primary visual area and the angular gyrus at the parietooccipital junction. Crossed ataxie optique consisting of difficulty in reaching objects presented in the contralateral visual field believed to be caused by disconnection of crossed pathways of the corpus callosum. Ataxie optique in our patient can be explained by disconnection of both direct and crossed fibers. Ataxie optique is sometimes unrecognized by the patient. Our patient suggests that ataxie optique may well be a symptom of PLES.
Balkin, Daniel M; Chen, Isaac; Oberoi, Snehlata; Pomerantz, Jason H
Hecht Syndrome is an autosomal dominant distal arthrogryposis caused by mutation in the MYH8 locus characterized by trismus and pseudocamptodactyly. Hecht-associated trismus is thought to result from bilateral hyperplasia of the mandibular coronoid processes. Although several interventions to address trismus have been pursued, no consensus exists regarding optimal management. In this report, the authors present a 7-month-old male with Hecht Syndrome referred for management of trismus. By age 2, interincisal opening had progressively decreased from 12 to 5 mm despite physical therapy. Nutrition was limited to liquids, oral hygiene was compromised, and aspiration risk was present. Computed tomography examination revealed enlarged coronoid processes extending medially and superiorly to the zygomatic arches. To release bony impaction of the coronoid processes against the zygoma and to prevent reossification of the temporalis tendon insertion, resection of the enlarged coronoids and distal temporalis muscles as well as placement of Alloderm spacers were performed via an open craniofacial transzygomatic approach. Jaw motion rehabilitation was used following surgery. Two years postoperatively, the patient had no signs of recurrence and good functional stability of jaw excursion. He was able to chew and swallow solid foods, protrude his tongue, use utensils, and perform regular oral hygiene, none of which were possible before surgery. This case demonstrates that open bilateral coronoidectomy can be a successful and durable management option for trismus in patients with Hecht Syndrome. The open transzygomatic approach is safe, has low morbidity, and provides direct access and adequate exposure for coronoid resection, spacer placement, and prevention of temporalis reinsertion.
Itonaga, Tomoyo; Goto, Hironori; Toujigamori, Manabu; Ohno, Yasuharu; Korematsu, Seigo; Izumi, Tatsuro; Narumi, Satoshi; Hasegawa, Tomonobu; Ihara, Kenji
Bilateral adrenalectomy is performed in cases with infantile-onset Cushing syndrome due to bilateral adrenal hyperplasia in McCune-Albright syndrome (MAS) because severe Cushing syndrome with heart failure and liver dysfunction can have a lethal outcome. This procedure can completely ameliorate hypercortisolism, although lifetime steroid replacement therapy and steps to prevent adrenal crisis are necessary. Recently, the efficacy of unilateral adrenalectomy has been reported in adult cases of bilateral macronodular adrenal hyperplasia, but there is no consensus regarding the appropriate surgical treatment for bilateral adrenal hyperplasia in MAS. A 6-month-old girl presented with café-au-lait spots, short stature, central obesity, a moon face, and hypertension. Endocrinological tests and imaging studies led to the diagnosis of ACTH-independent Cushing syndrome due to bilateral adrenal hyperplasia induced by MAS. "Three-quarters adrenalectomy", namely right-sided total adrenalectomy and left-sided half adrenalectomy, was carried out. An activating mutation of the GNAS1 gene (p.Arg201Cys) was identified in the adrenal tissues. Since the operation, our patient has been in a state of clinical remission for more than 2 years. Our original surgical intervention, three-quarters adrenalectomy, may be a new treatment option for Cushing syndrome associated with MAS. © 2017 S. Karger AG, Basel.
Kyrtsos, Christina Rose; Stahl, Mark C.; Eslinger, Paul; Subramanian, Thyagarajan; Lucassen, Elisabeth B.
Capgras syndrome is a delusional misidentification syndrome (DMS) which can be seen in neurodegenerative diseases such as Lewy body dementia and, to a lesser extent, in Parkinson's disease (PD). Here, we report the case of a 78-year-old man with a history of idiopathic PD who developed Capgras syndrome following bilateral subthalamic nucleus deep brain stimulation (DBS) implantation. As the risk of DMS has been related to deficits in executive, memory, and visuospatial function preoperatively, this case highlights the importance of continuing to improve patient selection for DBS surgery. Capgras syndrome is a rare potential complication of DBS surgery in PD patients with preexisting cognitive decline. PMID:26078747
Tashakkor, A Yashar; Macadam, Sheina A
'Well leg compartment syndrome' refers to compartment syndrome occurring in a nontraumatic setting. This occurs most commonly in the lower limb during surgery performed with the patient in an anatomically vulnerable position. While this complication is well documented in the setting of orthopedic, urological and gynecological surgeries, it is an exceptionally rare complication in plastic surgery; only seven cases have been published on compartment syndrome complicating an operation performed on a supine patient. A case involving a 56-year-old woman who developed an anterior compartment syndrome of her right lower leg following a bilateral mastectomy with immediate breast reconstruction is presented. A detailed literature review is also included.
Background Injecting estradiol valerate (EV) to pre-pubertal or adult female rat results in effects similar to those observed in women with polycystic ovarian syndrome (PCOS). One of the mechanisms involved in PCOS development is the hyperactivity of the sympathetic nervous system. In EV-induced PCOS rats, the unilateral sectioning of the superior ovarian nerve (SON) restores ovulation of the innervated ovary. This suggests that, in addition to the sympathetic innervation, other neural mechanisms are involved in the development/maintenance of PCOS. The aims of present study were analyze if the vagus nerve is one of the neural pathways participating in PCOS development. Methods Ten-day old rats were injected with EV dissolved in corn oil. At 24-days of age sham-surgery, unilateral, or bilateral sectioning of the vagus nerve (vagotomy) was performed on these rats. The animals were sacrificed at 90–92 days of age, when they presented vaginal estrous preceded by a pro-estrus smear. Results In EV-induced PCOS rats, unilateral or bilateral vagotomy restored ovulation in both ovaries. Follicle-stimulating hormone (FSH) levels in PCOS rats with unilateral or bilateral vagotomy were lower than in control rats. Conclusions This result suggests that in EV-induced PCOS rats the vagus nerve is a neural pathway participating in maintaining PCOS. The vagus nerve innervates the ovaries directly and indirectly through its synapsis in the celiac-superior-mesenteric ganglion, where the somas of neurons originating in the SON are located. Then, it is possible that vagotomy effects in EV-induced PCOS rats may be explained as a lack of communication between the central nervous system and the ovaries. PMID:23866168
Welinder, Lotte G; Robitaille, Johane M; Rupps, Rosemarie; Boerkoel, Cornelius F; Lyons, Christopher J
The birth of a bilaterally blind child is catastrophic for families and a challenging diagnostic and management problem for ophthalmologists. Early identification of the underlying cause and its genetic basis helps initiate possible treatment, delineate prognosis, and identify risks for future pregnancies. In some cases, an early diagnosis can also influence the treatment of other family members. We report two sisters with bilateral retinal detachment and retro-lental masses from birth with no detectable NDP or FZD4 mutations. They were born to parents without detectable retinal anomalies. At 1 year of age, the elder sister had low impact bone fractures, and further evaluation identified severe osteopenia and multiple spinal compression fractures. Molecular testing identified biallelic lipoprotein receptor-related protein 5 (LRP5) mutations (NM_002335.3:c. [889dupA]; [2827 + 1G > A]) confirming a diagnosis of osteoporosis-pseudoglioma (OPPG) syndrome. After this diagnosis, the father and mother were found to have low bone mass and the father started on therapy. We conclude that early detection of LRP5 mutations is important for initiation of treatment of reduced bone density in the patients and their carrier relatives.
Szmulewicz, David J; Seiderer, Linda; Halmagyi, G Michael; Storey, Elsdon; Roberts, Leslie
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (CANVAS) is a recently described multisystem ataxia defined by the presence of cerebellar ataxia, bilateral vestibulopathy, and a somatosensory deficit. The characteristic clinical sign is an abnormal visually enhanced vestibuloocular reflex. The somatosensory deficit contributes to a significant level of disability in CANVAS. This study was a neurophysiological investigation of 14 patients with CANVAS. Findings revealed uniformly absent sensory nerve action potentials in all limbs, abnormal blink reflexes in 13 of 14 patients, and abnormal masseter reflexes in 6 of 11 patients. Tibial H-reflexes were absent in 11 of 14 patients. Somatosensory evoked potentials were abnormal in 10 of the 11 patients tested, and brainstem auditory evoked responses were abnormal in 3 of 8. Cutaneous silent period responses were abnormal in 7 of 14 patients. We suggest that a sensory neuronopathy should be sought in cerebellar and/or vestibular ataxias, particularly where the degree of ataxia is out of proportion to the clinically identified cerebellar and/or vestibular dysfunction. © 2014 Wiley Periodicals, Inc.
Matsuoka, Shozo; Kobayashi, Toru; Kusunoki, Soshi; Ogishima, Daiki
Cases involving polycystic ovaries (PCOs) with adnexal torsion in a natural cycle without ovulation induction are rare, and no reports of such cases have described asynchronous bilateral adnexal torsion. Here, we report a case of PCO syndrome (PCOS) with asynchronous bilateral adnexal torsion in a natural cycle. The patient was a 37-year-old woman with a history of 2 gravidas 1 para. Her primary complaint was left lower abdominal pain. Ultrasonography and MRI identified multiple uterine myomas occupying the pelvis and the left ovary, with oedematous swelling that had moved ventrally to the uterus. She was diagnosed with adnexal torsion and underwent emergency laparoscopic adnexectomy. Nine months after surgery, she experienced right lower abdominal pain. Ultrasonography revealed suspected right adnexal torsion and she underwent emergency surgery. The right ovary was twisted 540° counterclockwise and swollen to 7 cm in size, with partial polycystic changes. She was histopathologically diagnosed with a PCO, and the final diagnosis, which also considered the endocrine test results, was PCOS. In PCOS, adnexal torsion may occur if the swollen ovary moves because of a hysteromyoma or other cause. Accordingly, torsion should be considered during the follow-up of patients with PCOS. © 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.
Karim, Adil; Abed, Firas; Bachuwa, Ghassan
A change in the colour of urine is always of clinical significance, and a source of concern for the patient and his physician. Among the different urine colours observed, purple is the least common. Although purple discolouration of a catheter and a urine bag is an uncommon finding, it was reported in the literature as early as 1978, by Barlow and Dickson. We present a unique case of purple urine bag syndrome in a patient with bilateral nephrostomy tubes (NT) and associated urine bags (UB) with only the left nephrostomy tube and urine bag exhibiting the purple colour, which resolved with a course of appropriate antibiotics eradicating the causative bacterial pathogen, and change of NT and UB.
Sachdev, Perminder Singh; Cannon, Elisabeth; Coyne, Terry J; Silburn, Peter
We present the case of a 32-year-old Caucasian woman with severe treatment-refractory obsessive compulsive disorder (OCD) and Tourette's syndrome. Both conditions were present prior to age 5 and impacted significantly on the patient's functioning. Multiple trials of evidence-based pharmacological and behavioural therapies had not achieved remission of symptoms. Bilateral deep brain stimulation of the nucleus accumbens was undertaken to treat both illnesses but with a particular focus on OCD, as the patient identified this as the more debilitating of the two disorders. Following surgery there was an immediate improvement in OCD and tic severity. At follow-up 8 months later, there was a 90% improvement in OCD symptoms and a 57% improvement in tic severity. No intraoperative or postoperative complications or adverse events occurred and there were no undesired effects of stimulation.
Magaudda, A; Dalla Bernardina, B; De Marco, P; Sfaello, Z; Longo, M; Colamaria, V; Daniele, O; Tortorella, G; Tata, M A; Di Perri, R
Twenty patients affected by bilateral occipital cortical-subcortical calcification (BOC) are described, 19 (95%) had epilepsy. In 8 of 16 cases studied, intestinal biopsy revealed coeliac disease. Fourteen patients had occipital partial epilepsy with a relatively benign outcome, while 4 patients were affected by a severe form of epilepsy, with very frequent, drug-resistant, generalised and partial seizures with mental deterioration. One patient had a single episode of convulsive status epilepticus at four months of age. The neurological examination was normal in all patients. CT showed flocculo-nodular, cortico-subcortical BOC, without enhancement and without lobar or hemispheric atrophy. MRI was normal. The clinical and neuroimaging features of these patients are different therefore from those with the Sturge-Weber Syndrome. The study confirms a high prevalence of coliac disease in patients with BOC, but the relationship between these two pathologies still needs to be clarified. Images PMID:8350105
Dujardin, K; Krystkowiak, P; Defebvre, L; Blond, S; Destée, A
In treatment for severe Parkinson's disease (PD), a recent procedure was developed which consists of implanting electrodes in the internal Globus Pallidus (GPi) for chronic electrical stimulation. The consequences on cognitive function of such an intervention are quite variable. Although most group studies observed no significant post-operative change, individual cases of post-operative cognitive impairment were reported. The present study reports the case of a PD patient who underwent bilateral implantation of deep brain stimulation electrodes in the GPi and who, after surgery, suffered from a severe dysexecutive syndrome. An extensive neuropsychological examination showed a selective negative effect of pallidal stimulation on tests assessing executive function. When the stimulation was turned off, the impairment was partly reversible. This observation emphasizes the role of the GPi in executive function.
Palanisamy, Senthilnathan; Patel, Nikunj D.; Sabnis, Sandeep C.; Palanisamy, Nalankilli; Vijay, Anand; Chinnusamy, Palanivelu
Persistent Mullerian duct syndrome (PMDS) is one of the three rare intersex disorders caused by defective anti-mullerian hormone or its receptor, characterized by undescended testes with presence of underdeveloped derivatives of mullerian duct in genetically male infant or adult with normal external genitals and virilization. This population will essentially have normal, 46(XY), phenotype. We hereby present a case of PMDS, presented with incarcerated left inguinal hernia associated with cryptorchidism and seminoma of right testes. Patient underwent laparoscopic hernia repair with bilateral orchidectomy and hysterectomy with uneventful postoperative recovery. Here we highlight the importance of minimal access approach for this scenario in terms of better visualization, less blood loss, combining multiple procedures along with early return to work and excellent cosmetic outcome. PMID:26622120
Remondino, G I; Mysler, E; Pissano, M N; Furattini, M C; Basta, M C; Presas, J L; Allievi, A
We describe a 26-year-old white female with a history of Raynaud phenomenon, erythema nodosum, polyarthralgias, migraine, vertigo, seizures, transient ischemic attacks, one fetal loss, and false positive VDRL, who developed milk hypertension without overt lupus nephritis. She had positive antinuclear antibodies (ANA) and double-stranded deoxyribonucleic acid (dsDNA) antibodies. The lupus anticoagulant test (LAC) and cardiolipins antibodies (aCL) were positive. She was diagnosed as having a Systemic Lupus Erythematosus-like illness (SLE-like) with 'secondary' antiphospholipid syndrome (APS). Renal spiral computed tomography (CT) with intravenous (IV) contrast showed bilateral renal artery stenosis. Anticoagulation with acenocumarol was started. She became normotensive without antihypertensive drugs five months later. A follow-up renal spiral CT showed complete recanalization of both renal arteries, making thrombosis the more likely culprit pathology in the stenosis. After two years follow up the patient is normotensive. She remains on acenocumarol.
Vasaghi, Attiyeh; Ashraf, Alireza; Shirzadi, Alireza; Petramfar, Peyman
This report describes a patient with dysphonia for 16 years in combination with asymmetric and progressive decrease in sense and power of both upper and lower extremities for the past 3 years. Electrophysiological study revealed asymmetric conduction block and abnormal sensory action potential in 4 limbs. The vagus nerves palsy and abnormal electrodiagnosis of the limbs led us to diagnose the disease as Lewis and Sumner syndrome, also called multifocal acquired demyelinating sensory and motor neuropathy diagnosis, which improved by corticosteroid consumption to some extent. This case is uncommon by its long time presentation and progression. To the best of the authors' knowledge, this is the first report of simultaneous bilateral vagus nerve palsy in combination with upper and lower limbs' demyelinating neuropathy. In conclusion, persistent dysphonia can be a part of the presentation of demyelinating neuropathy.
Kuban, Joshua D.; Ramanathan, Rohit; Whigham, Cliff J.
Vascular stenosis is a relatively uncommon and often fatal sequela of mediastinal fibrosis. There are very few reports in the medical literature of endovascular treatment for concomitant bilateral pulmonary artery stenoses and superior vena cava syndrome. We report the endovascular treatment of these conditions in a 54-year-old man, and the long-term outcome. PMID:27303243
Bindu, P S; Taly, A B; Sonam, K; Govindaraju, C; Arvinda, H R; Gayathri, N; Bharath, M M Srinivas; Ranjith, D; Nagappa, M; Sinha, S; Khan, N A; Thangaraj, K
Bilateral hypertrophic olivary degeneration on brain MRI has been reported in a few metabolic, genetic and neurodegenerative disorders, including mitochondrial disorders. In this report, we sought to analyse whether bilateral symmetrical inferior olivary nucleus hypertrophy is specifically associated with mitochondrial disorders in children. This retrospective study included 125 children (mean age, 7.6 ± 5 years; male:female, 2.6:1) diagnosed with various metabolic and genetic disorders during 2005-2012. The routine MRI sequences (T1 weighted, T2 weighted and fluid-attenuated inversion-recovery sequences) were analysed for the presence of bilateral symmetrical olivary hypertrophy and central tegmental tract or dentate nuclei signal changes. The other imaging findings and the final diagnoses were noted. The cohort included patients with Leigh and Leigh-like syndrome (n = 25), other mitochondrial diseases (n = 25), Wilson disease (n = 40), Type 1 glutaric aciduria (n = 14), maple syrup urine disease (n = 13), giant axonal neuropathy (n = 5) and L-2 hydroxy glutaric aciduria (n = 3). Bilateral inferior olivary nucleus hypertrophy was noted in 10 patients, all of whom belonged to the Leigh and Leigh-like syndrome group. Bilateral hypertrophic olivary degeneration on MRI is relatively often, but not routinely, seen in children with Leigh and Leigh-like syndrome. Early detection of this finding by radiologists and physicians may facilitate targeted metabolic testing in these children. This article highlights the occurrence of bilateral hypertrophic olivary nucleus degeneration on MRI in children with Leigh and Leigh-like syndrome, compared with other metabolic disorders.
Taly, A B; Sonam, K; Govindaraju, C; Arvinda, H R; Gayathri, N; Bharath, M M Srinivas; Ranjith, D; Nagappa, M; Sinha, S; Khan, N A; Thangaraj, K
Objective: Bilateral hypertrophic olivary degeneration on brain MRI has been reported in a few metabolic, genetic and neurodegenerative disorders, including mitochondrial disorders. In this report, we sought to analyse whether bilateral symmetrical inferior olivary nucleus hypertrophy is specifically associated with mitochondrial disorders in children. Methods: This retrospective study included 125 children (mean age, 7.6 ± 5 years; male:female, 2.6:1) diagnosed with various metabolic and genetic disorders during 2005–2012. The routine MRI sequences (T1 weighted, T2 weighted and fluid-attenuated inversion–recovery sequences) were analysed for the presence of bilateral symmetrical olivary hypertrophy and central tegmental tract or dentate nuclei signal changes. The other imaging findings and the final diagnoses were noted. Results: The cohort included patients with Leigh and Leigh-like syndrome (n = 25), other mitochondrial diseases (n = 25), Wilson disease (n = 40), Type 1 glutaric aciduria (n = 14), maple syrup urine disease (n = 13), giant axonal neuropathy (n = 5) and L-2 hydroxy glutaric aciduria (n = 3). Bilateral inferior olivary nucleus hypertrophy was noted in 10 patients, all of whom belonged to the Leigh and Leigh-like syndrome group. Conclusion: Bilateral hypertrophic olivary degeneration on MRI is relatively often, but not routinely, seen in children with Leigh and Leigh-like syndrome. Early detection of this finding by radiologists and physicians may facilitate targeted metabolic testing in these children. Advances in knowledge: This article highlights the occurrence of bilateral hypertrophic olivary nucleus degeneration on MRI in children with Leigh and Leigh-like syndrome, compared with other metabolic disorders. PMID:24470583
Manzoor, Nauman F; Wick, Cameron C; Wahba, Marian; Gupta, Amit; Piper, Robin; Murray, Gail S; Otteson, Todd; Megerian, Cliff A; Semaan, Maroun T
To analyze audiometric outcomes after bilateral cochlear implantation in patients with isolated enlarged vestibular aqueduct (EVA) syndrome and associated incomplete partition (IP) malformations. Secondary objective was to analyze rate of cerebrospinal fluid (CSF) gusher in patients with IP-EVA spectrum deformities and compare this with the existing literature. Retrospective chart review. Thirty-two patients with EVA syndrome who received unilateral or bilateral cochlear implants between June 1999 and January 2014 were identified in the University Hospitals Case Medical Center cochlear implant database. Isolated EVA (IEVA) and Incomplete Partition Type II (IP-II) malformations were identified by reviewing high-resolution computed tomography (HRCT) imaging. Demographic information, age at implantation, surgical details, postimplantation audiometric data including speech reception thresholds (SRT), word, and sentence scores were reviewed and analyzed. Intra- and postoperative complications were analyzed as well and compared with the literature. Seventeen patients (32 implanted ears) had pediatric cochlear implantation for EVA-associated hearing loss. Data from 16 controls (32 implanted ears) were used to compare audiometric and speech outcomes of EVA cohort. Mean age at implantation was 6.8 years for EVA cohort and 6.0 years for controls. There was no statistically significant difference in long-term postoperative SRT, monaurally aided word scores, and binaurally tested word scores between pediatric EVA group and controls. The EVA patients had a long-term mean sentence score of 85.92%. A subset of EVA patients implanted at mean age of 3.18 years (n = 15 ears) had similar audiometric outcomes to another control group with Connexin 26 mutations (n = 20 ears) implanted at a similar age. Further subset analysis revealed no significant differences in age at implantation, SRT, and word scores in patients with IEVA and IP-II malformation. There was no significant
Tay, Yoong Chuan; Tan, Kian Hian; Yeow, Vincent Kok-Leng
Crouzon syndrome is a rare, autosomal dominant disease from a fibroblast growth factor receptor 2 gene mutation, characterized by premature craniosynostosis, hypertelorism, orbital proptosis, psittichorina, hypoplastic maxilla, and mandibular prognathism. We present an adult 32-year-old Crouzon syndrome patient who underwent an elective High Le Fort I and bilateral split sagittal osteotomy for midface advancement with a background of jaw malocclusion and obstructive respiratory symptoms. The operation features a potential dynamic movement of the secured airway in the surgical field and close proximity to exposed ocular structures. Permissive hypotensive anesthesia was employed to improve the surgical field and reduce intraoperative blood loss and dose of long-acting opioids. He was extubated at the end of an uneventful surgery and was monitored in the high dependency overnight before he was discharged to the general ward. Perioperative issues include potential difficult airway management; ocular, auditory, and neurological injury prevention; surgery-specific anesthetic technique; and postoperative analgesia. Understanding the multisystemic issues facilitates the dynamic anesthetic management during surgery. Good communication among the multidisciplinary team is essential to ensure a successful operation and uneventful recovery.
Gayraud, F; Martinie, B; Bentot, E; Lepilliez, A; Tell, L; Cotton, F; Rode, G
Patients in locked-in syndrome show normal or near normal mental abilities that contrast with the limited motor capacity that hinders voluntary communication. However, eye movements and blinking are usually preserved and can be used to establish a communication system. We report an exceptional case of locked-in syndrome. The aetiology was basilar thrombosis consecutive to a cervical manipulation. In addition, brain MRI performed 23 years later showed a ventral pontine stroke with bilateral corticopontic degeneration. In this study the patient was able to produce written output using a chin-controlled Morse system decoded by a computer. A detailed linguistic analysis of text written over 20 years by the patient was carried out. The data demonstrate that improvements in language performance can be observed even in patients with brain lesions in areas associated with high-level cognitive processes. The data show a decrease of typing, grammatical and lexical errors over time, use of less frequent words, and an increase of more complex linguistic structures. This paper adds to previous findings confirming the value of daily practice and rehabilitation to enhance quality of life in this group of patients.
Sarma, Asha Shyn, Paul B.; Vivian, Mark A.; Ng, Ju-Mei; Tuncali, Kemal; Lorch, Jorchen H.; Zaheer, Sarah N.; Gordon, Michael S.; Silverman, Stuart G.
Bilateral adrenalectomy is currently the only available treatment for adrenocorticotropic hormone (ACTH)-dependent Cushing’s syndrome (ectopic ACTH syndrome) that is refractory to pharmacologic therapy. We describe two patients with refractory ectopic ACTH syndrome who were treated with CT-guided percutaneous microwave ablation of both hyperplastic adrenal glands in a single session: One was not a surgical candidate, and the other had undergone unsuccessful surgery. Following the procedure, both patients achieved substantial decreases in serum cortisol, symptomatic improvement, and decreased anti-hypertensive medication requirements.
Borelli, Paolo; Baldacci, Filippo; Vergallo, Andrea; Del Dotto, Paolo; Lucetti, Claudio; Nuti, Angelo; Bonuccelli, Ubaldo
Cerebrovascular accidents are not rare during pregnancy and the postpartum period. Pre-eclampsia is a common condition that is characterized by proteinuria and de novo hypertension that may be complicated by hemolysis, elevated liver enzymes, and low platelet count (HELLP) syndrome. Spontaneous cervical artery dissection has been rarely reported in the postpartum period but never in association with HELLP syndrome. We describe a case of pre-eclampsia and HELLP syndrome complicated in the postpartum period by bilateral thalamic infarct as result of left vertebral artery dissection. We speculated about the possible common etiopathologic mechanisms involved in this previously unreported association.
Sarma, Asha; Shyn, Paul B; Vivian, Mark A; Ng, Ju-Mei; Tuncali, Kemal; Lorch, Jorchen H; Zaheer, Sarah N; Gordon, Michael S; Silverman, Stuart G
Bilateral adrenalectomy is currently the only available treatment for adrenocorticotropic hormone (ACTH)-dependent Cushing's syndrome (ectopic ACTH syndrome) that is refractory to pharmacologic therapy. We describe two patients with refractory ectopic ACTH syndrome who were treated with CT-guided percutaneous microwave ablation of both hyperplastic adrenal glands in a single session: O ne was not a surgical candidate, and the other had undergone unsuccessful surgery. Following the procedure, both patients achieved substantial decreases in serum cortisol, symptomatic improvement, and decreased anti-hypertensive medication requirements.
Ghosh, Debangshu; Saha, Somnath; Basu, Sumit Kumar
Ectrodactyly-ectodermal dysplasia and clefting syndrome or “Lobster claw” deformity is a rare congenital anomaly that affects tissues of ectodermal and mesodermal origin. Nasolacrimal duct (NLD) obstruction with or without atresia of lacrimal passage is a common finding of such a syndrome. The authors report here even a rarer presentation of the syndrome which manifested as bilateral NLD obstruction and lacrimal fistula along with cleft lip and palate, syndactyly affecting all four limbs, mild mental retardation, otitis media, and sinusitis. Lacrimal duct obstruction and fistula were managed successfully with endoscopic dacryocystorhinostomy (DCR) which is a good alternative to lacrimal probing or open DCR in such a case. PMID:26655010
Ghosh, Debangshu; Saha, Somnath; Basu, Sumit Kumar
Ectrodactyly-ectodermal dysplasia and clefting syndrome or "Lobster claw" deformity is a rare congenital anomaly that affects tissues of ectodermal and mesodermal origin. Nasolacrimal duct (NLD) obstruction with or without atresia of lacrimal passage is a common finding of such a syndrome. The authors report here even a rarer presentation of the syndrome which manifested as bilateral NLD obstruction and lacrimal fistula along with cleft lip and palate, syndactyly affecting all four limbs, mild mental retardation, otitis media, and sinusitis. Lacrimal duct obstruction and fistula were managed successfully with endoscopic dacryocystorhinostomy (DCR) which is a good alternative to lacrimal probing or open DCR in such a case.
Nishimura, Yoshiko; Shibata, Koichi; Funaki, Takenori; Ito, Hiroyuki; Ito, Eiichi; Otsuka, Kuniaki
A 60-year-old male was admitted because he had developed tremulous movement in both upper and lower limbs and gait disturbance over the course of 3 months. He had been on continuous ambulatory peritoneal dialysis almost 1 year earlier due to end-stage diabetic nephropathy. A neurological examination revealed a mild disturbance of his consciousness, asterixis in the upper limbs, bilateral extensor plantar responses and parkinsonism, which were characterized by bradykinesia, akinesia, rigidity, and bilaterally tremors at rest. Cranial magnetic resonance imaging (MRI) revealed swollen bilateral basal ganglia legions, which appeared hyperintense on T2-weighted images. The patient was treated for metabolic acidosis and continued hemodialysis three times a week; however, the parkinsonism remained 1 year later. Follow-up MRI revealed decreased swelling of the basal ganglia, and the pattern of diffusion-weighted images and the apparent diffusion coefficient (ADC) map indicated vasogenic and cytotoxic edema in bilateral globus pallidus. The case was diagnosed as encephalopathy due to diabetic uremic syndrome, initially characterized by Wang et al. (2003). Only 17 cases with parkinsonism have been reported. Diabetic uremic syndrome is characterized by acute or subacute onset consciousness disturbance and movement disorders such as parkinsonism, chorea and the other extrapyramidal signs to various degrees related to bilateral lesions of the basal ganglia.
Yamaguchi, Rika; Nanri, Yusuke; Yakushiji, Yusuke; Yukitake, Motohiro; Hara, Hideo
A case of a small left pontine tegmental hemorrhage that presented as cheiro-oral syndrome with a bilateral perioral sensory disturbance is described. An 83-year-old man suddenly developed numbness in his bilateral perioral area and right hand. Head CT and MRI (T(2)*-weighted image) revealed a small left pontine tegmental hemorrhage. The patient was diagnosed as having cheiro-oral syndrome with bilateral perioral sensory disturbance, probably due to unilateral pontine tegmental hemorrhage. All residual symptoms disappeared within a month.In the present case, the following clinicopathological hypothesis was considered. The hematoma located in the left pontine tegmentum impaired the sensory fibers from the contralateral medial lemniscus (from the right hand) and the ventral trigeminothalamic tract (from the right perioral region). In addition, the ipsilateral trigeminothalamic tract (from the left perioral region) was also impaired. It is important to know that a small unilateral lesion in the brainstem (especially the pons) can cause cheiro-oral syndrome with a bilateral perioral sensory disturbance, and a small brainstem hematoma is the most frequent etiology of this disease.
Zhou, Yu-Juan; Wu, Yong-Zhen; Cong, Ning; Yu, Jing; Gu, Jun; Wang, Jing; Chi, Fang-Lu
To analyze and summarize the effect of bilateral large vestibular aqueducts in peripheral vestibular organ function. Eighteen patients with bilateral large vestibular aqueduct syndrome (LVAS; Study Group) and 18 healthy volunteers (Control Group) were investigated using audiometry, caloric test, sensory organization test (SOT), and vestibular-evoked myogenic potential (VEMP) tests. All 18 patients (36 ears) exhibited sensorineural hearing loss. For cervical VEMP (cVEMP), the Study Group showed lower thresholds (Study Group vs. 71.4vs. 75.3dBnHL; p=0.006), N1 latencies (24.1vs. 25.2ms; p=0.026) and shorter P1 (15.3vs. 16.6ms; p=0.003), and higher amplitudes (400.7vs. 247.2µV; p<0.001) than the Control Group. For ocular VEMP (oVEMP), the Study Group had lower thresholds (79.3vs. 81.8dBnHL; p=0.046) and higher amplitudes (40.6vs. 14.4µV; p<0.001) than the Control Group. Fourteen of 16 patients (87.5%) who completed caloric tests had abnormal results, and 10 of 18 patients (55.6%) exhibited abnormal results in SOTs. The hyperfunction of vestibular test in otolithic organs and the hypofunction of vestibular test in semicircular canals, as well as the dysfunction in the balance test were demonstrated in patients with LVAS. Our findings can help clinicians gain a better understanding of the characteristics of vestibular organ function in patients with LVAS, which can facilitate optimal targeted treatment. Copyright © 2017 International Federation of Clinical Neurophysiology. Published by Elsevier B.V. All rights reserved.
Al-Faris, Abdullah; Jabari, Mosleh; Al-Sayed, Mohammed; Al-Shehri, Hassan
Persistent Müllerian duct syndrome (PMDS) is a rare, sex-limited, autosomal recessive disorder representing male pseudo-hermaphroditism. It is observed in males with the presence of female reproductive organs such as the uterus, cervix, and bilateral fallopian tubes along with normally developed male reproductive organs. It generally occurs during embryogenesis due to mutation in anti-Müllerian hormone (AMH) gene, i.e., AMH gene or AMH receptor (AMHR2) gene. The present case reports a male infant with inflammation in the right groin who was admitted to Security Forces Hospital in 2015. During surgery, his testis was pulled down to the scrotum in the normal anatomical position, but full orchidopexy was not performed due to fragile capsule and edematous area. After a year, a right orchidopexy was performed. During left testis laparoscopic exploration, a small left intra-abdominal gonad in a position similar to the ovary, Müllerian structures in the form of a small uterus and vagina in the midline were observed. Biopsy of left gonad showed immature testicular tissues. The MRI findings of the pelvis showed normal male urethra with the presence of a vagina and small uterus, but no definite ovaries or testicle. Based on the clinical, laboratory, imaging, and primarily operative findings, the boy was diagnosed with PMDS. This was confirmed using genetic testing, which revealed biallelic mutations in the AMHR2 gene. The patient is currently under clinical observation to decide further management of PMDS through left testis orchidopexy, either with or without surgical excision of persistent Müllerian duct structures. The key message, which needs to be spread from this case report, is that the infant with bilateral undescended testes or inguinal hernia on one side and cryptorchidism on the other side should be thoroughly investigated to exclude any underlying disorder of sex development (DSD) before any further intervention. PMID:28163853
Dao, Thuan; Amaro-Driedger, David; Mehta, Jaideep
Raynaud's syndrome has been treated medically and invasively, sometimes with regional anesthesia leading up to sympathectomy. We demonstrate that regional anesthesia was in this case a useful technique that can allow some patients to find temporary but significant relief from symptoms of Raynaud's syndrome exacerbation. We present a 43-year-old woman with Raynaud's syndrome secondary to lupus who was treated with bilateral popliteal nerve block catheters for ischemic pain and necrosis of her feet; this led to almost immediate resolution of her pain and return of color and function of her feet. While medical management should continue to be a front-line treatment for Raynaud's syndrome, regional anesthesia can be useful in providing rapid dissipation of symptoms and may thus serve as a viable option for short-term management of this syndrome.
Yanamoto, Shozaburo; Fukae, Jiro; Fukiyama, Yurie; Fujioka, Shinsuke; Ouma, Shinji; Tsuboi, Yoshio
Remitting seronegative symmetrical synovitis with pitting edema syndrome is characterized by symmetrical synovitis with pitting edema in the dorsum of the hands or feet. Most cases of remitting seronegative symmetrical synovitis with pitting edema syndrome are idiopathic, but some are secondary to malignancy, autoimmune disease, or neurodegenerative disorders. Pleural and pericardial effusions are unusual complications in idiopathic remitting seronegative symmetrical synovitis with pitting edema syndrome. A 74-year-old Japanese woman presented to our hospital with arthralgia and pitting edema in her feet. She had pain in multiple joints, peripheral edema, and a markedly elevated erythrocyte sedimentation rate. Enhanced computed tomography and laboratory data showed no evidence of malignancy. These findings suggested that she had idiopathic remitting seronegative symmetrical synovitis with pitting edema syndrome. She also developed respiratory distress because of bilateral pleural and pericardial effusions. Laboratory data showed that serum vascular endothelial growth factor and interleukin-6 were significantly elevated. After administration of steroids, her pleural and pericardial effusions decreased and finally disappeared. Furthermore, vascular endothelial growth factor and interleukin-6 decreased when the pleural and pericardial effusions disappeared. Here we report the case of a patient with idiopathic remitting seronegative symmetrical synovitis with pitting edema syndrome associated with life-threatening complications, including bilateral pleural and pericardial effusions during the course of the illness, which led to respiratory failure and atrial fibrillation. Elevated vascular endothelial growth factor and interleukin-6 may be associated with the cause of pleural and pericardial effusions in idiopathic remitting seronegative symmetrical synovitis with pitting edema syndrome.
Louiset, Estelle; Gobet, Françoise; Libé, Rossella; Horvath, Anelia; Renouf, Sylvie; Cariou, Juliette; Rothenbuhler, Anya; Bertherat, Jérôme; Clauser, Eric; Grise, Philippe; Stratakis, Constantine A.; Kuhn, Jean-Marc; Lefebvre, Hervé
Context: Bilateral micronodular adrenal hyperplasia and ectopic adrenocortical adenoma are two rare causes of ACTH-independent Cushing’s syndrome. Objective: The aim of the study was to evaluate a 35-yr-old woman with ACTH-independent hypercortisolism associated with both micronodular adrenal hyperplasia and ectopic pararenal adrenocortical adenoma. Design and Setting: In vivo and in vitro studies were performed in a University Hospital Department and academic research laboratories. Intervention: Mutations of the PRKAR1A, PDE8B, and PDE11A genes were searched for in leukocytes and adrenocortical tissues. The ability of adrenal and adenoma tissues to synthesize cortisol was investigated by immunohistochemistry, quantitative PCR, and/or cell culture studies. Main Outcome Measure: Detection of 17α-hydroxylase and 21-hydroxylase immunoreactivities, quantification of CYP11B1 mRNA in adrenal and adenoma tissues, and measurement of cortisol levels in supernatants by radioimmunological assays were the main outcomes. Results: Histological examination of the adrenals revealed nonpigmented micronodular cortical hyperplasia associated with relative atrophy of internodular cortex. No genomic and/or somatic adrenal mutations of the PRKAR1A, PDE8B, and PDE11A genes were detected. 17α-Hydroxylase and 21-hydroxylase immunoreactivities as well as CYP11B1 mRNA were detected in adrenal and adenoma tissues. ACTH and dexamethasone activated cortisol secretion from adenoma cells. The stimulatory action of dexamethasone was mediated by a nongenomic effect involving the protein kinase A pathway. Conclusion: This case suggests that unknown molecular defects can favor both micronodular adrenal hyperplasia and ectopic adrenocortical adenoma associated with Cushing’s syndrome. PMID:19915020
Saroj, Gyanendra; Gangwar, Anshul
ABSTRACT Sturge-Weber syndrome (SWS) is a rare, nonhereditary developmental condition that is characterized by a hamartomatous vascular proliferation of the brain, resulting in multiple angiomas that occur on the same side due to arteriovenous malformations. It is believed to be caused by persistence of a vascular plexus around the cephalic portion of the neural tube and is present at birth in about 1 in every 50,000 babies. It is one of the phakomatoses which is often associated with port-wine stains (PWSs) of the face, glaucoma, seizures, mental retardation and ipsilateral leptomeningeal angioma. Many people with SWS probably never know they have it. Hypothyroidism is a condition that arises from inadequate release of thyroid-stimulating hormone to stimulate an otherwise normal thyroid gland. This condition is often associated with a deficient secretion of other pituitary hormone, and growth hormone deficiency occurs with an increased prevalence in SWS, presumably secondary to involvement of the hypothalamic-pituitary axis. Diagnosis is made by the presence of a facial PWS and evidence of leptomeningeal angioma either by skull X-ray or computed tomography scan that shows intracranial calcifications. Presently, there is no specific treatment for SWS, and the management of the clinical manifestations and complications is still far from adequate. Here, we report the case of hypothyroidism associated with SWS with oral and facial manifestations in an 11-year-old boy. How to cite this article: Saroj G, Gangwar A, Dhillon JK. Hypothyroidism and Sturge-Weber Syndrome associated with Bilateral Port-wine Nevus. Int J Clin Pediatr Dent 2016;9(1): 82-85. PMID:27274162
Morris, Lilah F.; Harris, Rachel S.; Milton, Denái R.; Waguespack, Steven G.; Habra, Mouhammed A.; Jimenez, Camilo; Vassilopoulou-Sellin, Rena; Lee, Jeffrey E.; Perrier, Nancy D.; Grubbs, Elizabeth G.
Introduction In patients with refractory ACTH-dependent Cushing’s syndrome (CS), we evaluated steroidogenesis inhibition (SI) and bilateral adrenalectomy (BA) to predict which patients might benefit most from each treatment modality. Methods Clinical data from patients treated 1970-2012 were retrospectively reviewed by treatment group (SI or SI+BA). Validated severity scales were used to calculate metabolic (M) score (hypokalemia, hyperglycemia, hypertension, proximal muscle weakness) and adverse events (AE) score (thrombosis, fracture, infection). Results 65 patients (16 pituitary, 49 ectopic) were treated with SI+BA (n=21,32%) or SI alone (n=44,68%). Presenting M scores and source of ACTH excess (ectopic vs. pituitary) were similar. Both groups improved metabolically after treatment. 39% of AEs in the SI+BA group occurred within 12 months of presentation. 24(55%) SI patients died (median survival 24.0 months); steroid excess contributed to 71%. Six SI+BA patients died (29%), including all 3 patients with recurrent CS after BA. Minor perioperative complications occurred in 7 patients (33%). Conclusions Post-treatment M and AE scores improved for all patients and 70% of AEs occurred in SI+BA patients within 12 months of presentation, emphasizing the importance of early surgical intervention. These data argue for the safety and efficacy of early BA in selected patients with uncontrollable CS. PMID:24383115
Narazaki, Ryo; Makimura, Mika; Sanefuji, Masafumi; Fukamachi, Shigeru; Akiyoshi, Hidetaka; So, Hidenori; Yamamura, Kenichiro; Doisaki, Sayoko; Kojima, Seiji; Ihara, Kenji; Hara, Toshiro; Ohga, Shouichi
Hutchinson-Gilford progeria syndrome (HGPS) is a rare premature aging disease, caused by a de novo mutation of lamin-A gene, LMNA G608G. Accumulation of abnormal lamin-A (progerin) compromises nuclear membrane integrity and results in the accelerated senescence. Affected patients show a typical feature of birdlike face, alopecia, sclerotic skin, loss of subcutaneous fat, and short stature with advancing years. Neonatal scleroderma is the first presentation, although early diagnosis is challenging. The leading cause of death is cardio-/cerebro-vascular accidents associated with atherosclerosis. However, not all findings may recapitulate the aging process. We herein report a 9-year-old Japanese male with HGPS who developed cerebral infarction. The genetic study of peripheral blood-derived DNA determined a heterozygous c.1824C>T mutation, p.G608G. Telomere length of lymphocytes was normal. Bilateral stenosis of carotid siphons was prominent, while systemic arteriosclerosis was unremarkable assessed by the ankle-brachial index, carotid ultrasound imaging and funduscopic study. HGPS patients have marked loss and functional defects in vascular smooth muscle cells, leading to the vulnerability to circulatory stress. Symmetrical stenosis of siphons might occur as a distinctive cerebral vasculopathy of HGPS, rather than simple vascular senescence. Peripheral blood study on LMNA G608G and telomere length could screen progerias in infancy for early therapeutic intervention.
Barreira Junior, Alan Kardec; Moura, Frederico Castelo; Monteiro, Mario Luiz Ribeiro
Case report of bilateral cavernous sinus syndrome due to primary non-Hodgkin lymphoma of the central nervous system in a patient infected by the human immunodeficiency virus. A 51-year-old male patient infected by the human immunodeficiency virus but without antiretroviral treatment developed paralysis of the V and VI cranial nerves. Imaging studies were obtained to investigate an orbital apex and a cavernous sinus syndrome. A computerized tomography scan of the orbit was normal but a high-resolution magnetic resonance imaging demonstrated bilateral enlargement of the cavernous sinus. Although primary lymphoma of the central nervous system is a rare condition, it should be considered in the differential diagnosis in immunocompromised patients who develop ocular motility abnormalities and imaging signs suggestive of infiltrative cavernous sinus lesions.
Baheerathan, Aravindhan; Ross Russell, Amy; Bremner, Fion; Farmer, Simon F
Neurological complications are the most commonly encountered extra-pulmonary manifestation of infection with Mycoplasma pneumoniae (M. pneumoniae). Here the authors report the case of a 39-year-old woman who was admitted with acute-onset bilateral visual loss coinciding with ascending numbness. Clinical examination, neurological imaging, and nerve conduction studies revealed a syndrome of bilateral optic neuritis and Guillain-Barré syndrome (GBS). Serological testing confirmed recent exposure to M. pneumoniae. The patient did not experience any clinical benefit with pulsed intravenous methylprednisolone but demonstrated marked clinical and radiological improvement following 5 days of plasma exchange. This report will explore the diagnostic and therapeutic approach to patients with neuro-ophthalmological and neurological complications of M. pneumoniae infection in addition to discussing previously encountered cases.
Manassero, Francesca; Cuttano, Maria Giuseppa; Morelli, Girolamo; Salinitri, Giuseppe; Spurio, Michela; Selli, Cesare
The persistent müllerian duct syndrome is characterized by the retention of müllerian derivatives (fallopian tubes, uterus) in patients otherwise normally virilized, usually with cryptorchidism or an inguinal hernia. Very rarely, this syndrome is associated with transverse testicular ectopia, which designates the condition when both testes descend through the same inguinal canal into the same scrotal sac. We report on a patient with both conditions, who had T1N2M0 scrotal mixed germ cell tumor of the testis (teratoma and embryonal carcinoma), 18 years after bilateral orchidopexy. The literature concerning this uncommon association is reviewed.
Dardour, Leila; Verleyen, Pieter; Lesage, Karl; Holvoet, Maureen; Devriendt, Koen
Smith-Magenis syndrome (SMS) is a contiguous-gene disorder most commonly caused by a deletion of chromosome 17p11.2. We report a 57 year-old man with SMS who presents bilateral renal tumors. This is most likely related to haploinsufficiency of FLCN gene, located in the deleted region, and a known tumor suppressor gene. Haploinsufficiency of FLCN causes Birt-Hogg-Dubé syndrome (BHDS), characterized by pulmonary cysts, renal and skin tumors. The present observation suggests that the follow-up of patients with SMS should also focus on possible manifestations of BHDS.
Bilbao, Itxarone; Dopazo, Cristina; Caralt, Mireia; Castells, Lluis; Pando, Elisabeth; Gantxegi, Amaia; Charco, Ramón
AIM To describe one case of bilateral Tapia’s syndrome in a liver transplanted patient and to review the literature. METHODS We report a case of bilateral Tapia’s syndrome in a 50-year-old man with a history of human immunodeficiency virus and hepatitis C virus child. A liver cirrhosis and a bi-nodular hepatocellular carcinoma, who underwent liver transplantation after general anesthesia under orotracheal intubation. Uneventful extubation was performed in the intensive care unit during the following hours. On postoperative day (POD) 3, he required urgent re-laparotomy due to perihepatic hematoma complicated with respiratory gram negative bacilli infection. On POD 13, patient was extubated, but required immediate re-intubation due to severe respiratory failure. At the following day a third weaning failure occurred, requiring the performance of a percutaneous tracheostomy. Five days later, the patient was taken off mechanical ventilation and severe dysphagia, sialorrea and aphonia revealed. A computerized tomography and a magnetic resonance imaging of the head and neck excluded central nervous injury. A stroboscopy showed bilateral paralysis of vocal cords and tongue and a diagnosis of bilateral Tapia’s syndrome was performed. With conservative management, including a prompt establishment of a speech and swallowing rehabilitation program, the patient achieved full recovery within four months after liver transplantation. We carried out MEDLINE search for the term Tapia’s syndrome. The inclusion criteria had no restriction by language or year but must provide sufficient available data to exclude duplicity. We described the clinical evolution of the patients, focusing on author, year of publication, age, sex, preceding problem, history of endotracheal intubation, unilateral or bilateral presentation, diagnostic procedures, type of treatment, follow-up, and outcome. RESULTS Several authors mentioned the existence of around 70 cases, however only 54 fulfilled our
Bilateral Severe Sterile Inflammation with Hypopyon after Simultaneous Intravitreal Triamcinolone Acetonide and Aflibercept Injection in a Patient with Bilateral Marked Rubeosis Associated with Ocular Ischemic Syndrome
Durmaz Engin, Ceren; Ayhan, Ziya; Men, Süleyman
We report the clinical course of a diabetic patient with bilateral cataract and rubeosis in association with ocular ischemic syndrome and initially treated him with simultaneous intravitreal 2 mg aflibercept and 2 mg triamcinolone acetonide injection at the same setting prior to planned cataract surgery and further photocoagulation. However, sterile anterior segment inflammation characterized by hypopyon occurred four days apart in OU. Right eye developed the sterile inflammation at the third postinjection day and the left eye developed the sterile inflammation at the seventh postinjection day (two days after the uneventful cataract surgery with intraocular lens implantation) without any pain or significant redness. Vitreous biopsy taken during the right phacovitrectomy was negative for any microbial contamination. Both eyes were treated successfully with intensive topical prednisolone acetate with a relatively good visual outcome. It is likely that underlying ocular ischemic syndrome might have facilitated the formation of sterile inflammation as blood-aqueous barrier disruption and flare have already been present. PMID:28386497
Yasuda, Clarissa L; Guimarães, Catarina A; Guerreiro, Marilisa M; Boscariol, Mirela; Oliveira, Ecila P M; Teixeira, Karine C; Costa, André L F; Beltramini, Guilherme C; Cendes, Fernando
Congenital bilateral perisylvian syndrome (CBPS) presents with heterogeneous clinical manifestations such as pseudobulbar palsy, language disorder, variable cognitive deficits, epilepsy, and perisylvian abnormalities (most frequently polymicrogyria) on imaging studies. We investigated the relationship between seizures and extent of gray matter (GM) and white matter (WM) abnormalities using voxel-based morphometry (VBM) of brain magnetic resonance imaging (MRI) as well the association between seizures, structural abnormalities and cognitive ability. In this cross-sectional study, we evaluated 51 healthy volunteers and 18 patients with CBPS with epilepsy (seizure group, n = 7) and without (non-seizure group, n = 11). We used VBM (SPM8/DARTEL) to investigate areas with excess and atrophy of both gray and white matter, comparing groups of patients with controls. Intellectual ability of patients was assessed by the WISC-III or WAIS-III. Both groups with CBPS and the control group were homogeneous with respect to gender (p = 0.07) and age (p = 0.065). Besides perisylvian polymicrogyria, the seizure group exhibited areas with GM and WM reduction including temporal, frontal, parietal and occipital lobes. In contrast, we identified fewer areas with GM and WM reduction in the non-seizure group. The seizure group presented worse intellectual performance (performance IQ and global IQ) than the non-seizure group. The seizure group presented with a more widespread pattern of cortical and sub-cortical abnormalities, as well as worse cognition. Our results suggest that patients with CBPS and epilepsy appear to have widespread neuronal damage that goes beyond the areas with MRI-visible perisylvian polymicrogyria.
Background Intracompartmental pressure (ICP) as the diagnostic gold standard in the management of chronic compartment syndrome (CCS) is debated. We present a diagnostic protocol in which the decision to operate can be based upon clinical findings alone. The aim of this study was to examine whether patients who underwent surgery for CCS based on clinical findings experienced significant long-term pain relief. Methods A standardized clinical examination, including skin sensitivity, was performed in patients with bilateral leg pain and/or cramps. Before and after a symptom-provoking step test, ICPs were measured. The primary outcome was self-reported leg pain measured on a visual analogue scale. Secondary outcomes were satisfaction with the treatment result and health-related quality of life (HRQL) measured with the SF-8 questionnaire. Postoperative data were collected after 2 years. Results Follow-up was completed for 37 of 40 patients. ICP was increased in 80.5% of the compartments examined before surgery, but did not correlate with the degree of leg pain. The remaining compartments were diagnosed as CCS based on clinical findings, despite ICPs below the threshold. Leg cramps occurred in 32 of 37 (86.5%) patients during physical activity and at night. Leg pain improved from a score of 8.0 ± 1.5 to 2.3 ± 2.1, P < 0.001. Satisfaction with the treatment result was reported by 81.1% of the patients, accompanied by normalized HRQL. Conclusions The diagnostic protocol led to a fasciotomy in all compartments of both legs, which was associated with substantial and sustained relief of leg pain, improved HRQL, and patient satisfaction. PMID:23561303
Dobyns, W B; Guerrini, R; Czapansky-Beilman, D K; Pierpont, M E; Breningstall, G; Yock, D H; Bonanni, P; Truwit, C L
Bilateral periventricular nodular heterotopia (BPNH) is a recently recognized malformation of neuronal migration, and perhaps proliferation, in which nodular masses of gray matter line the walls of the lateral ventricles. Most affected individuals have epilepsy and normal intelligence with no other congenital anomalies. A striking skew of the sex ratio has been observed because 31 of 38 probands have been female, and one gene associated with BPNH was recently mapped to chromosome Xq28. We report three unrelated boys with a new multiple congenital anomaly-mental retardation syndrome that consists of BPNH, cerebellar hypoplasia, severe mental retardation, epilepsy, and syndactyly. Variable abnormalities included focal or regional cortical dysplasia, cataracts, and hypospadius. We hypothesize that this syndrome involves the same Xq28 locus as isolated BPNH, and we review the expanding number of syndromes associated with BPNH.
Koren, Ilana; Kessel, Ira; Rotschild, Avi; Cohen-Kerem, Raanan
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.
Rao, Srinivas K; Fan, Dorothy S P; Pang, C P; Li, Winnie W Y; Ng, Joan S K; Good, William V; Lam, Dennis S C
To report the unusual association of bilateral corneal keloids and anterior segment mesenchymal dysgenesis in a child with Rubinstein-Taybi syndrome. Case report of a 2-year-old boy. Excision of the epicorneal mass in the right eye was followed by recurrence of the lesion. Multiple penetrating keratoplasties were unsuccessful in reconstructing the anterior segment because of recurrent corneal epithelial breakdown, suggesting limbal stem cell insufficiency. Histopathology and electron microscopy of the excised mass lesion showed features typical of a corneal keloid: thickened keratinized epithelium, absent Bowman's layer, and fibrovascular hyperplasia, with haphazard orientation of the collagen lamellae. Ultrasound biomicroscopy and intraoperative findings suggested a diagnosis of Peter anomaly, but genetic analysis did not show a PAX6 mutation. The findings in our patient add to the spectrum of ocular changes described in Rubinstein-Taybi syndrome and confirm earlier reports of poor ocular prognosis in corneal keloids and Rubinstein-Taybi syndrome.
MacMahon, Jayne M; O'Sullivan, Maureen J; McDermott, Michael; Quinn, Feargal; Morris, Thomas; Green, Andrew J; Betts, David R; O'Connell, Susan M
Mosaic Turner syndrome (TSM) commonly occurs in the form of 45,X/46,XX and 45,X/46,X,i(X)(q10). Mosaicism for a Y chromosome, 45,X/46,XY, has been well documented and is associated with increased risk of gonadoblastoma (GB). To date, there are only six reported cases of TSM with a trisomy 18 karyotype, and only two of these were phenotypically female with 45,X/47,XY,+18 karyotype. We present the case of a phenotypically female infant born with dysmorphic features. G-banded karyotype and interphase FISH of blood showed 45,X in 95% and 47,XY,+18 (trisomy 18) in 5% of cells analysed. However, interphase FISH of buccal cells showed only the presence of the 45,X cell line. Due to the presence of Y chromosome material, elective gonadectomy was performed at 13 months of age. There were bilateral streak ovaries with early evidence of GB bilaterally, a rudimentary uterus and bilateral fallopian tubes with unilateral ectopic adrenal tissue identified histologically. Interphase FISH of the gonadal tissue was similar to the blood findings with 45,X in 86% of cells and 47,XY,+18 in 14% of cells analysed. This case highlights a rare karyotype of TSM and trisomy 18 in the same patient and is the first reporting the associated finding of bilateral GB. © 2016 S. Karger AG, Basel.
Myong, N. H.; Park, J. W.; Chi, J. G.
Short rib-polydactyly syndrome (SRPS) is a group of lethal skeletal dysplasia of an autosomal recessive inheritance characterized by markedly narrow ribs, micromelia, and multiple anomalies of major organs. We report a case of type IV SRPS with uncommon associations of polydactyly and bilateral polycystic kidneys, in a 28 week old female fetus. She was born dead to a 28 year old mother, showing a hydropic change, narrow thorax, and shortened limbs with postaxial heptasyndactyly of both hands and feet. Radiologic examination revealed short horizontal ribs, curved short tubular limb bones, small ilia and scapula, and a mild vertebral abnormality. Postmortem examination disclosed pulmonary hypoplasia, pancreatic cysts, hepatic fibrosis, and left persistent superior vena cava. In addition this case had bilateral huge polycystic renal dysplasia that was seldom described in any type of SRPS. Histologic sections of the vertebrae disclosed abnormal enchondral ossification with irregular and retarded hypertrophic zone. PMID:9610623
We report a case of a 60-year-old lady who presented with bilateral lower limb swelling and a thyroid swelling with clinical features consistent with thyrotoxicosis. Investigations revealed the presence of a thrombus in bilateral external, internal iliac veins, and inferior vena cava extending up to its infrahepatic part. Hormone profile and radioiodine uptake scan confirmed the diagnosis of Graves' disease. Further workup revealed the presence of antiphospholipid antibodies (confirmed after a repeat test at 12 weeks). The patient was treated with antithyroid drugs and anticoagulants. The patient improved with normalization of thyroid function and partial recanalization of the infrahepatic part of inferior vena cava. Hyperthyroidism has been implicated as a potential hypercoagulable state; however, the association of Graves' disease with antiphospholipid antibody syndrome is limited to isolated case reports. This case highlights a new mechanism underlying hypercoagulability associated with Graves' disease.
Sebastiá, Roberto; Fallico, Ester; Fallico, Matteo; Fortuna, Eduardo; Lessa, Sergio; Neto, Guilherme Herzog
Background The purpose of this work was to determine the effectiveness and possible complications encountered with bilateral fascia lata lid suspension used to correct blepharoptosis in patients with Kearns-Sayre syndrome. Methods This was a retrospective study of seven patients with Kearns-Sayre syndrome who had a minimum of 1 year of follow-up. A bilateral fascia lata sling was used to correct the ptosis. Preoperative and postoperative measurements of the vertical lid fissure width (VFW) and marginal reflex distance (MRD) were performed. The Student’s t-test was used to analyze the results. Results The mean preoperative VFW and MRD measurements were 4±2.45 mm and 0.14±0.92 mm, respectively. The mean postoperative VFW and MRD measurements were 7.71±1.85 mm, and 2.86±1.69 mm, respectively. All preoperative and postoperative values were considered to be statistically significant (P<0.01). Adequate elevation of the lids was obtained in all patients, both functionally and aesthetically. All of the patients showed a mild symmetric postoperative inferior version lagophthalmos, and one patient developed corneal ulceration and scarring due to corneal exposure and a weak Bell’s phenomenon. Conclusion The surgical technique described to correct the blepharoptosis found in patients with Kearns-Sayre syndrome was found to be efficient and relatively safe. The correction should be conservative to decrease the risk of postoperative corneal damage that occurred in one patient. PMID:25565765
Mullaney, J; Mooney, D; O'Connor, M; McDonald, G S
A case of bilateral uveal melanoma in a 60-year-old woman in association with primary bilateral ovarian carcinoma is described. This is the first case in which ultrastructural studies have been performed on the ocular tumours. Seven previously described cases are summarised, and the extreme rarity of such reports would suggest that this may indeed be a new syndrome. Images PMID:6704361
Gimbel, Howard V.; Camoriano, Gerardo D.; Aman-Ullah, Muhammad
The management of ectopia lentis in Marfan's syndrome is challenging. Multiple disease-associated factors conspire to deprive these patients of adequate vision. While optical correction with glasses and contact lenses is usually advocated early on, the irregular astigmatism and even partial aphakia that accompanies advanced cases generally warrant surgical intervention. Several surgical strategies have been devised to manage these challenging cases, including the combination of endocapsular or pars plana lensectomy and iris or scleral fixation of the intraocular lens (IOL) or IOL-bag complex. All of the reported cases have been implanted with IOLs that correct for myopia only. With toric lenses, it is now possible to correct for corneal astigmatism in these patients as well, provided that the capsular bag is maintained and can be properly centered. We report the combination of scleral-fixated Cionni endocapsular rings and toric IOLs in a pediatric patient with bilateral ectopia lentis secondary to Marfan's syndrome. PMID:22615696
Tajima, Y; Tsukishima, E; Sudo, K; Aimoto, Y; Tashiro, K
Sjögren syndrome (SjS) is a glandular disease characterized by dry eyes and dry mouth. Extraglandular manifestations in SjS are also common, and peripheral nerve involvement has been reported in 10-20% of cases. We report a case of Sjögren syndrome with bilateral tonic pupils, dysautonomia, and multiple mononeuritis. The fact that sural nerve sections, in addition to marked loss of myelinated and unmyelinated fibers, showed an increased number of infiltrating macrophages without lymphocytes and aberrant expression of HLA-DR (class II) antigen in Schwann cells was an especially interesting finding. No evidence of active vasculitis was detected. The patient was treated with corticosteroids and her condition gradually improved, as confirmed by thermography. Our findings suggested the presence of specific immunological abnormalities simultaneously involving the ciliary ganglia, autonomic ganglia, and dorsal root ganglia in this peculiar form of SjS.
Pestana, Elia M; Gupta, Ajay
An 11-year-old boy with epilepsy due to congenital bilateral anterior temporal lobe malformations presented with fluctuating Kluver-Bucy syndrome (KBS). Since the age of 2, he had experienced clusters of three or four daily complex partial seizures over 2-3 days in a month, followed by a seizure-free interval of 3-4 weeks. During the seizure-free period, the patient exhibited hyperorality, sniffing, irritability alternating with placidity, anxiety, unsolicited sexual gestures, and unusual calmness after eating. KBS features escalated up to the onset of the seizure cluster, and remitted after the seizures. Brain MRI revealed bilateral anterior temporal cortical dysplasia with enlarged and dysmorphic amygdalar-hippocampal complex. Brain [(18)F]fluorodeoxyglucose positron emission tomography PET showed bilateral anterior and mesial temporal hypometabolism. Video/EEG monitoring revealed independent right and left temporal lobe seizures. This is the first reported case of KBS due to congenital bitemporal malformations. Also, KBS behavior phenotype in this patient fluctuated, with escalation during the seizure-free period and remission induced by the monthly seizure cluster. This fluctuating pattern could represent forced normalization.
Dogra, Premnath; Kumar, Anup; Singh, Ashutosh
In VHL syndrome, renal cell carcinoma is distinctive for its early age of onset, for its bilateral and multifocal involvement. Synchronous solitary urinary bladder metastasis from renal cell carcinoma is extremely rare. We report an unusual case of VHL with bilateral multicentric renal cell carcinoma and synchronous solitary urinary bladder metastasis. To the best of our knowledge this is the first case reported in literature with this combination.
Moussavi, Mohammad; Korya, Daniel; Panezai, Spozhmy; Peeraully, Tasneem; Gizzi, Martin; Kirmani, Jawad F
Reversible cerebral vasoconstriction syndromes (RCVS) have been documented to take place after an inciting event or illness. They present with headache, altered mental status and focal neurologic findings. The differential diagnosis includes primary angiitis of the central nervous system (PACNS) but one major clinical difference is that the symptoms of RCVS usually resolve within days or weeks whereas PACNS is often fatal. Females of childbearing age are most commonly affected with RCVS. Cases of reversible vasculopathy have also been reported in menopausal women. The hormonal and physiologic changes that take place during the postpartum period and menopause may not be very different from those that occur after a hysterectomy and oophorectomy. A case is presented of a 35-year-old woman who underwent a hysterectomy with bilateral salpingo-oophorectomy and then began experiencing severe headaches, visual changes and hemi-sensory loss. Physical examination, imaging and laboratory findings were descriptive of RCVS, and the patient's rapid recovery was consistent with the usual disease progression of a reversible vasculopathy. A reversible cerebral vasoconstriction syndrome may occur in some circumstances after a hysterectomy with bilateral salpingo-oophorectomy. The mechanisms involved in the development of this condition are explained by current research concerning effects on the vasculature of sudden drops in estrogens and progesterones. More studies are required to further establish the pathophysiology, diagnosis and treatment of this condition.
Ejtahed, Hanieh-Sadat; Soroush, Mohammad-Reza; Hasani-Ranjbar, Shirin; Angoorani, Pooneh; Mousavi, Batool; Masumi, Mehdi; Edjtehadi, Farhad; Soveid, Mahmood
Lower limb amputation is correlated with considerable impairments in health-related quality of life (HRQOL) in veterans. The aim of this study is to determine the prevalence of metabolic syndrome (MetS) in veterans with bilateral lower limb amputation and to identify its association with HRQOL. This cross-sectional study was conducted on 235 Iranian male veterans with bilateral lower limb amputation. Demographics, anthropometrics, and biochemical measurements were assessed and MetS was defined by National Cholesterol Education Program Adult Treatment Panel III definition. HRQOL was assessed using the 36-item Short Form Health Survey (SF-36) questionnaire which measures eight health-related domains. The scores were compared between two groups of bilateral lower limb Amputees who have diagnosed with and without MetS. The response rate was 40.7% and the mean age of the amputees was 52.05 years. 62.1% of participants were suffering from MetS (95% CI: 55.9%-68.4%). Patients with MetS were observed to have higher weight, waist and hip circumferences, FBS, TG, LDL and liver enzymes concentrations (P < 0.05). Although scores on all 8 subscales of SF-36 were low, no significant difference was observed in HRQOL scores between amputees with and without MetS. Moreover, the risk of MetS was not significantly different across subjects in the highest compared to the lowest quartile category of HRQOL scores. Prevalence of MetS in veterans with bilateral lower limb amputation was higher and their HRQOL was lower compared to general population. Some strategies are needed to reduce the risk of cardiovascular diseases among this susceptible population.
Konstantinidis, I; Paschaloudi, S; Triaridis, S; Fyrmpas, G; Sechlidis, S; Constantinidis, J
Summary The presence of multiple calculi in the major salivary glands is an uncommon finding. Sjögren’s syndrome is a chronic autoimmune disease characterized by lymphocyte-mediated destruction of the exocrine glands. The case is presented of a 49-year-old female with Sjögren’s syndrome found to have bilateral multiple sialolithiasis in the parenchyma of the parotid glands. The patient presented with a right sided painful inflamed swelling of the parotid region. Even though she had been diagnosed with primary Sjögren’s syndrome 3 years prior to admission, she did not report any previous episode of sialadenitis. Full blood count showed leukocytosis (white blood cells = 14,900/106L) with neutrophilia (75%). Radiological assessment included ultrasound and computed tomography scan of the parotids which demonstrated intra-parenchymal multiple calculi of both parotid glands and obstruction of the right Stensen’s duct. The patient was treated with intravenous antibiotics and anti-inflammatory drugs. On the second day of hospitalisation, she reported spontaneous extrusion of a calculus during massage of the gland, with immediate relief of symptoms. In patients with Sjögren’s syndrome and radiological findings of calculi in the major salivary glands, close observation is mandatory for better control of recurrent sialadenitis and early recognition of mucosa-associated lymphoid tissue lymphomas. PMID:17601211
Ames, P R; Cianciaruso, B; Bellizzi, V; Balletta, M; Lubrano, E; Scarpa, R; Brancaccio, V
A 43-year-old man presented with oliguria and hypertension. Renal arteriography showed bilateral renal artery occlusion. Circulating antiphospholipid antibodies were found together with a change in natural anticoagulant plasma levels. Immunofluorescence of examined vessels showed immune complex vasculitis. We discuss the pathogenetic mechanism leading to the development of this rare occlusive event.
Tang, Qian Ying; Lai, Wei Hong; Tay, Shian Chao
There is a paucity of studies in published literature that examines the effect of hand dominance on the resolution of symptoms following a carpal tunnel release. The objective of this study is to examine the effect of hand dominance on the resolution of symptoms following surgical decompression in patients with severe and moderate carpal tunnel syndrome. Bilateral carpal tunnel release (total 90 open and 84 endoscopic) was performed on 87 patients (11 males, 76 females) presenting with bilateral severe or moderate carpal tunnel syndrome of equal severity. Patient-reported outcome of resolution of symptoms were recorded, with patients followed up until complete resolution of symptoms or last recorded consultation (mean follow-up duration 11.4 months, range 3.1 to 32.4 months). In patients with bilateral severe carpal tunnel syndrome, a larger proportion of non-dominant hand (75.4%) achieved complete resolution compared to dominant hand (72.1%), and did so at a statistically shorter time (mean: 52.3 days) than the dominant hand (mean: 81.0 days). However, there was no statistically significant difference between proportion of patients and time taken before complete resolution of symptoms between dominant and non-dominant hand in patients with bilateral moderate carpal tunnel syndrome. Symptoms in the non-dominant hand resolved faster after carpal tunnel release in patients with severe carpal tunnel syndrome. We postulate that greater daily activity by the dominant hand compared to the non-dominant hand may be a contributing factor to its slower rate of symptoms resolution post-surgically in patients with bilateral severe carpal tunnel syndrome. This effect of hand dominance is not evident in post-surgical patients with moderate carpal tunnel syndrome.
Wood, Benjamin C; Yi, Sojung; Oh, Albert K; Rogers, Gary F; Magge, Suresh N
Oblique craniofacial clefts and encephaloceles are each rare conditions, and only a few instances of these findings in combination have been described. Each pathologic entity presents a unique reconstructive challenge. The authors report the case of a male infant who presented with a large right frontoencephalocele and bilateral Tessier number 3 clefts. A review of the pertinent literature, including specific considerations related to perioperative management and technical aspects of the surgical approach, is discussed.
Dohle, C; Baehring, J M
Ehlers-Danlos Syndrome is a rare group of inheritable disorders resulting in abnormal collagen production, leading to skin fragility, joint hypermobility and easy bruising. Six major subtypes have been identified, of which Type IV most often leads to neurovascular complications, may lead to inner organ rupture and overall has the worst prognosis. Early recognition followed by genetic testing is key, since this diagnosis will guide decision making in the management of complications, influence the choice of antiplatelet medications versus anticoagulants and allow for potentially affected family members to be identified, undergo genetic testing and reproductive counseling. We here report the case of a 50 year old woman with a fulminant presentation of Ehlers Danlos Syndrome Type IV, including bilateral carotid and vertebral artery dissection, multiple strokes and liver rupture. Of note, this patient did not have a known history or obvious clinical features of connective tissue disease. Genetic testing confirmed the diagnosis. Review of her family history revealed multiple family members with a history of aortic dissection or aneurysm rupture. This case illustrates that Ehlers Danlos Syndrome Type IV is an important differential diagnosis even in adult patients without a known history of connective tissue disease and no prior complications.
Baines, S J; Langley-Hobbs, S
Interruption of the postganglionic neuron in the sympathetic pathway to the eye is reported to be a common cause of Horner's syndrome in the cat, although there are few clinical reports identifying the site and nature of the lesion responsible. A case of Horner's syndrome resulting from trauma to the periorbital structures following reduction of temporomandibular joint luxation is presented. In this case, the ophthalmic abnormalities resolved spontaneously over eight days.
Junming, Zhu; Yuanyuan, Zhao; Fang, Feng; Weiming, Fu; Ryan, Hays; Jianmin, Zhang; Li, Feng; Xiao, Jin; Shuda, Chen
Congenital bilateral perisylvian syndrome (CBPS) is characterized by epilepsy, cognitive deficits, pseudobulbar palsy and diplegia of the facial, pharyngeal and masticatory muscles. Epilepsy has been described in nearly 90% of affected patients. The epilepsy is usually severe and pharmacoresistant in about 55 percent of CBPS patients. Until now, only 12 cases of surgical treatment on CBPS have been reported; the surgical treatment is usually corpus callosotomy. In this paper, we describe a previously unreported combination of anterior corpus callosotomy plus anterior temporal lobectomy with amygdalohippocampectomy for a patient with CBPS, resulting in a satisfactory clinical outcome. Based on this case, we suggest that palliative focal resective surgery combined with anterior corpus callosotomy should be considered when a predominance of the epileptiform discharges suggests focal onset in patients with CBPS. Meanwhile, the clinical decision to adopt this combination surgery must be based on a thorough pre-surgical evaluation, and should take into account the clinical, radiological, and EEG features.
Ladi, Jeevan S; Shah, Nitant A
We report the first case of toric multifocal intraocular lens (IOL) implantation in both the eyes of a young patient of Alport syndrome with anterior and posterior lenticonus with a successful outcome. An 18-year-old female patient presented with progressively blurred vision in both eyes since 4–5 years not improving with glasses. Refraction showed high myopia with astigmatism; however, the vision did not improve beyond 6/60 with glasses correction. Clinical examination on slit lamp showed anterior and posterior lenticonus bilaterally with a classical oil droplet appearance. We performed clear lens extraction by phacoemulsification with toric multifocal IOL implantation in both eyes. Postoperatively, the patient achieved an excellent refractive outcome with the unaided vision of 6/9, N6 in both eyes. PMID:27958211
Strupp, M; Feil, K; Dieterich, M; Brandt, T
The leading symptoms of bilateral vestibulopathy (BVP) are postural imbalance and unsteadiness of gait that worsens in darkness and on uneven ground. There are typically no symptoms while sitting or lying under static conditions. A minority of patients also have movement-induced oscillopsia, in particular while walking. The diagnosis of BVP is based on a bilaterally reduced or absent function of the vestibulo-ocular reflex (VOR). This deficit is diagnosed for the high-frequency range of the angular VOR by a bilaterally pathologic bedside head impulse test (HIT) and for the low-frequency range by a bilaterally reduced or absent caloric response. If the results of the bedside HIT are unclear, angular VOR function should be quantified by a video-oculography system (vHIT). An additional test supporting the diagnosis is dynamic visual acuity. Cervical and ocular vestibular-evoked myogenic potentials (c/oVEMP) may also be reduced or absent, indicating impaired otolith function. There are different subtypes of BVP depending on the affected anatomic structure and frequency range of the VOR deficit: impaired canal function in the low- and/or high-frequency VOR range only and/or otolith function only; the latter is very rare. The etiology of BVP remains unclear in more than 50% of patients: in these cases neurodegeneration is assumed. Frequent known causes are ototoxicity mainly due to gentamicin, bilateral Menière's disease, autoimmune diseases, meningitis and bilateral vestibular schwannoma, as well as an association with cerebellar degeneration (cerebellar ataxia, neuropathy, vestibular areflexia syndrome=CANVAS). In general, in the long term there is no improvement of vestibular function. There are four treatment options: first, detailed patient counseling to explain the cause, etiology, and consequences, as well as the course of the disease; second, daily vestibular exercises and balance training; third, if possible, treatment of the underlying cause, as in bilateral
Taïeb, David; Yang, Chunzhang; Delenne, Blandine; Zhuang, Zhengping; Barlier, Anne; Sebag, Fréderic
Context: Molecular genetic research has so far resulted in the identification of 10 well-characterized susceptibility genes for hereditary pheochromocytoma (PHEO) or paraganglioma (PGL). Recently, a new syndrome characterized by multiple PGLs and somatostatinomas associated with congenital polycythemia due to somatic mutations in HIF2A has been reported. Objective: The aim of the study was to define the genetic defect in a new case of bilateral PHEO and multiple PGLs associated with congenital polycythemia. Patient: A female patient presented with neonatal polycythemia (treated by phlebotomies, 1 session approximately every 4 mo), mildly enlarged cerebral ventricles, and bilateral PHEO and multiple PGLs. There was no family history of any neuroendocrine tumor or polycythemia. Surgical removal of the tumors only temporarily normalized plasma erythropoietin (Epo) levels and discontinued phlebotomies. No germline mutations were initially detected in the SDHB, SDHC, SDHD, VHL, and PHD2 genes, known to be associated with polycythemia. The PHEOs presented with a typical noradrenergic biochemical phenotype. Results: A heterozygous missense mutation (c.1589C>T) was identified in exon 12 of HIF2A, resulting in an alanine 530 substitution in the HIF-2α protein with valine (A530V). This somatic mutation was detected in the tissue from 1 PHEO and 1 PGL, with no HIF2A germline mutation found. This mutation led to stabilization of HIF-2α and hence a gain-of-function phenotype, as in previously published studies. Conclusion: This case represents the first association of a somatic HIF2A gain-of-function mutation with PHEO and congenital polycythemia, and it alerts physicians to perform proper genetic screening in patients presenting with multiple norepinephrine-producing PHEOs and polycythemia. This report also extends the previous findings of a new syndrome of only multiple PGLs, somatostatinomas, and polycythemia to multiple PHEOs. PMID:23539726
Tulipan, N; Huang, S; Whetsell, W O; Allen, G S
It is reported that unilateral grafts of neonatal striatal tissue protect the recipient from the lethal aphagia and adipsia produced by bilateral intrastriatal injection of 10 nmol of kainic acid in rats. It is shown that neither adult striatum nor neonatal tissue from other sites have the same lifesaving effect and that the salutary effect of the graft is dependent upon graft survival. Grafts from a histoincompatible donor are apparently rejected, leading to the death of the recipient. Cyclosporine inhibits rejection thereby enabling recipient survival. It is postulated that the graft exerts a neurohumoral influence that protects the striatum from the toxic effect of kainate.
Chamrajan, Shrinivasan; Vala, Nidhi H; Desai, Jatin R; Bhatt, Niraj N
Persistent mullerian duct syndrome (PMDS) is a rare form of male pseudohermaphroditism in which mullerian duct derivatives are present in an otherwise normally differentiated 46 XY male. We report a case of a 33-year-old male with PMDS operated for postchemotherapy seminoma. A diagnosis of PMDS was made on subsequent histopathological evaluation. PMID:23162363
Juusela, Alexander L; Naghi, Ilana; Thani, Suresh
Patients with Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome are infertile secondary to hypoplasia or complete agenesis of the uterus, yet they remain at risk of primary neoplasms of the ovaries because embryologically the uterus and ovaries develop via separate mechanisms. A 72-year-old nulliparous woman with a history of primary amenorrhea underwent an exploratory laparotomy for a suspected uterine fibroid. In addition to the pelvic mass, the patient was found to have findings consistent with MRKH syndrome. Postoperative pathological examination demonstrated bilateral ovarian Sertoli cell tumors. The case presented is unique in that 2 rare pathologies, bilateral Sertoli cell tumors of the ovary and MRKH syndrome, developed concomitantly in the same patient.
Yu, Hyeoh Won; Cho, Won Im; Choi, Keun Hee; Yun, Sumi; Cho, Hwan Seong; Shin, Choong Ho; Yang, Sei Won
Adrenocorticotropin-independent adrenal hyperplasias are rare diseases, which are classified into macronodular (>1 cm) and micronodular (≤1 cm) hyperplasia. Micronodular adrenal hyperplasia is subdivided into primary pigmented adrenocortical disease and a limited or nonpigmented form 'micronodular adrenocortical disease (MAD)', although considerable morphological and genetic overlap is observed between the 2 groups. We present an unusual case of a 44-month-old girl who was diagnosed with Cushing syndrome due to MAD. She had presented with spotty pigmentation on her oral mucosa, lips and conjunctivae and was diagnosed with multiple bone tumors in her femur, pelvis and skull base at the age of 8 years. Her bone tumor biopsies were compatible with osteoblastoma. This case highlights the importance of verifying the clinicopathologic correlation in Cushing syndrome and careful follow-up and screening for associated diseases. PMID:27104180
Yu, Hyeoh Won; Cho, Won Im; Chung, Hye Rim; Choi, Keun Hee; Yun, Sumi; Cho, Hwan Seong; Shin, Choong Ho; Yang, Sei Won
Adrenocorticotropin-independent adrenal hyperplasias are rare diseases, which are classified into macronodular (>1 cm) and micronodular (≤1 cm) hyperplasia. Micronodular adrenal hyperplasia is subdivided into primary pigmented adrenocortical disease and a limited or nonpigmented form 'micronodular adrenocortical disease (MAD)', although considerable morphological and genetic overlap is observed between the 2 groups. We present an unusual case of a 44-month-old girl who was diagnosed with Cushing syndrome due to MAD. She had presented with spotty pigmentation on her oral mucosa, lips and conjunctivae and was diagnosed with multiple bone tumors in her femur, pelvis and skull base at the age of 8 years. Her bone tumor biopsies were compatible with osteoblastoma. This case highlights the importance of verifying the clinicopathologic correlation in Cushing syndrome and careful follow-up and screening for associated diseases.
Michelotti, Brett; Romanowsky, Diane; Hauck, Randy M
Most randomized trials have shown similar results with endoscopic carpal tunnel release (ECTR) and open carpal tunnel release (OCTR); however, there are studies suggesting less postoperative pain, faster improvement in grip and pinch strength, and earlier return to work with the endoscopic technique. The goal of this study was to prospectively examine subjective and functional outcomes, satisfaction, and complications after both ECTR and OCTR in the opposite hands of the same patient, serving as their own control. This was a prospective, randomized study in which patients underwent surgery for bilateral carpal tunnel syndrome. The first carpal tunnel release was performed on the most symptomatic hand-determined by the patient. Operative approach was randomly assigned and, approximately 1 month later, the alternative technique was performed on the contralateral side. Demographic data were obtained, and functional outcomes were recorded preoperatively and postoperatively, including pain score, 2-point discrimination, Semmes-Weinstein monofilament testing, thenar strength, and overall grip strength. The carpal tunnel syndrome-functional status score and carpal tunnel syndrome-symptom severity score were recorded before surgery and at 2, 4, 8, 12, and 24 weeks postoperatively. Overall satisfaction with each technique was recorded at the conclusion of the study. Currently, 25 subjects have completed final visit testing. There were no differences in pain score, 2-point discrimination, Semmes-Weinstein monofilament testing, thenar strength, or overall grip strength at any of the postoperative time points. Carpal tunnel syndrome-symptom severity score and carpal tunnel syndrome-functional status score were not significantly different between groups at any of the evaluations. Overall satisfaction, where patients recorded a number from 0 to 100, was significantly greater in the ECTR group (95.95 vs 91.60, P = 0.04). There were no complications with either technique. This
Fernández-de-Las-Peñas, César; Madeleine, Pascal; Martínez-Perez, Almudena; Arendt-Nielsen, Lars; Jiménez-García, Rodrigo; Pareja, Juan A
To assess topographical pressure pain sensitivity maps of the hand in patients with unilateral carpal tunnel syndrome (CTS) as compared with healthy subjects. A total of 20 women with CTS (ages 32-52 years) and 20 healthy matched women (ages 32-51 years) were recruited. Pressure pain thresholds (PPTs) were measured bilaterally over 30 locations of the palm of each hand by an assessor blinded to the subjects' conditions. Patients showed lower PPTs in both hands in all of the measurement points as compared with controls (P < 0.001 for all). PPTs were lower in those points over the proximal phalanx of the fingers and the thenar eminency as compared with those points located over the distal phalanx of the fingers (P < 0.001). CTS patients showed lower PPT levels in dermatomes C6, C7, and C8 when compared with healthy controls (P < 0.001 for all), but without differences between dermatomes (P = 0.4). PPT was negatively correlated with both hand pain intensity and duration of symptoms (P < 0.001 for all). Our findings revealed bilateral generalized pressure pain hyperalgesia in unilateral CTS because lower PPT levels were found in all of the points. The pressure pain hyperalgesia was not uniformly distributed since PPTs were lower in points over the proximal phalanx of the fingers and the thenar eminency as compared with those points located over the distal phalanx of the fingers. The decrease in PPT levels was associated with the intensity and the duration of the pain symptoms, supporting a role of both peripheral and central sensitization mechanisms in this pain condition.
Andersson, Els-Marie M; Axelsson, Stefan; Austeng, Marit E; Øverland, Britt; Valen, Ingrid E; Jensen, Terese A; Akre, Harriet
In individuals with simple hypodontia, congenital absence of teeth commonly affects just one tooth of a pair, not both. However, patterns of hypodontia have not been fully explored in children with Down syndrome (DS). We describe the frequency and left-right symmetry of hypodontia in the permanent dentition of 8- to 9-year-old Norwegian children with DS. This population-based cross-sectional study was part of a national prospective study evaluating upper airway function, hearing, dental, and craniofacial characteristics in a cohort of children with DS born in 2002. The cohort consisted of 29 children with DS and represented 57 per cent of all children born with DS in Norway in 2002. Hypodontia was assessed using panoramic and/or dental radiographs. Data were collected prospectively at TAKO-Centre, National Resource Centre for Oral Health in Rare Medical Conditions, Lovisenberg Diakonale Hospital, Oslo, Norway. Hypodontia of permanent teeth, excluding third molars, was found in 61.5 per cent of the 26 children included in the final sample. Among the 16 children with hypodontia, 75.0 per cent were missing two or more permanent teeth. Two children (7.7 per cent) had severe hypodontia (oligodontia). The teeth most often missing were the maxillary lateral incisors, followed by the mandibular second premolars and maxillary second premolars. Most (68.9 per cent) cases of hypodontia occurred bilaterally. The majority of the children with DS were missing one or more permanent teeth. Unlike in the general population, bilateral hypodontia was more common than unilateral hypodontia in this sample of children with DS. © The Author 2013. Published by Oxford University Press on behalf of the European Orthodontic Society. All rights reserved. For permissions, please email: email@example.com.
Dao, Thuan; Amaro-Driedger, David; Mehta, Jaideep
Raynaud’s syndrome has been treated medically and invasively, sometimes with regional anesthesia leading up to sympathectomy. We demonstrate that regional anesthesia was in this case a useful technique that can allow some patients to find temporary but significant relief from symptoms of Raynaud’s syndrome exacerbation. We present a 43-year-old woman with Raynaud’s syndrome secondary to lupus who was treated with bilateral popliteal nerve block catheters for ischemic pain and necrosis of her feet; this led to almost immediate resolution of her pain and return of color and function of her feet. While medical management should continue to be a front-line treatment for Raynaud’s syndrome, regional anesthesia can be useful in providing rapid dissipation of symptoms and may thus serve as a viable option for short-term management of this syndrome. PMID:27366104
de la Llave-Rincón, Ana Isabel; Fernández-de-Las-Peñas, César; Pérez-de-Heredia-Torres, Marta; Martínez-Perez, Almudena; Valenza, Marie Carmen; Pareja, Juan A
: The aim of this study was to analyze the differences in deficits in fine motor control and pinch grip force between patients with minimal, moderate/mild, or severe carpal tunnel syndrome (CTS) and healthy age- and hand dominance-matched controls. : A case-control study was conducted. The subtests of the Purdue Pegboard Test (one-hand and bilateral pin placements and assemblies) and pinch grip force between the thumb and the remaining four fingers of the hand were bilaterally evaluated in 66 women with minimal (n = 16), moderate (n = 16), or severe (n = 34) CTS and in 20 age- and hand-matched healthy women. The differences among the groups were analyzed using different mixed models of analysis of variance. : A two-way mixed analysis of variance revealed significant differences between groups, not depending on the presence of unilateral or bilateral symptoms (side), for the one-hand pin placement subtest: patients showed bilateral lower scores compared with controls (P < 0.001), without differences among those with minimal, moderate, or severe CTS (P = 0.946). The patients also exhibited lower scores in bilateral pin placement (P < 0.001) and assembly (P < 0.001) subtests, without differences among them. The three-way analysis of variance revealed significant differences among groups (P < 0.001) and fingers (P < 0.001), not depending on the presence of unilateral/bilateral symptoms (P = 0.684), for pinch grip force: patients showed bilateral lower pinch grip force in all fingers compared with healthy controls, without differences among those with minimal, moderate, or severe CTS. : The current study revealed similar bilateral deficits in fine motor control and pinch grip force in patients with minimal, moderate, or severe CTS, supporting that fine motor control deficits are a common feature of CTS not associated with electrodiagnostic findings.
Giordano, L; Vignoli, A; Pinelli, L; Brancati, F; Accorsi, P; Faravelli, F; Gasparotti, R; Granata, T; Giaccone, G; Inverardi, F; Frassoni, C; Dallapiccola, B; Valente, E M; Spreafico, R
Joubert syndrome (JS) is characterized by hypotonia, ataxia, developmental delay, and a typical neuroimaging finding, the so-called "molar tooth sign" (MTS). The association of MTS and polymicrogyria (PMG) has been reported as a distinct JS-related disorder (JSRD). So far, five patients have been reported with this phenotype, only two of them being siblings. We report on one additional family, describing a living child with JS and PMG, and the corresponding neuropathological picture in the aborted brother. No mutations were detected in the AHI1 gene, the only so far associated with the JS + PMG phenotype. Moreover, linkage analysis allowed excluding all known gene loci, suggesting further genetic heterogeneity.
Rali, Aniket S.; Manyam, Harish
Patient: Female, 73 Final Diagnosis: Buffalo chest syndrome Symptoms: — Medication: — Clinical Procedure: Bi-ventricular ICD Specialty: Cardiology Objective: Rare disease Background: Contralateral pneumothorax following device implantation on the left side has been reported in a few cases. The majority of contralateral pneumothoraces showed evidence of atrial perforation on computed tomography (CT), echocardiography, or chest x-rays and required lead revision. To the best of our knowledge there is only 1 other reported case of contralateral pneumothorax without evidence of macro-displacement of the atrial lead. In that case the patient experienced a right-sided pneumothorax on day 1 after undergoing repositioning of the atrial lead. Case Report: The current case is unique on several accounts, including timing of the contralateral pneumothorax and no evidence of associated atrial lead perforation on device interrogation or CT imaging. Furthermore, the appearance of contralateral pneumothorax within 8 hours of clamping of the ipsilateral chest tube argues in favor of a pleuro-pleural fistula. Conclusions: The term ‘buffalo chest’ refers to a single pleural space, with no anatomical separation of the 2 hemithoraces, as seen in an American buffalo or bison. We believe this to be a case of buffalo chest syndrome. PMID:26431396
Senger, Jenna-Lynn; Classen, Dale; Bruce, Garth; Kanthan, Rani
A three-year-old boy was investigated for inexplicable incessant crying. On examination, his left wrist was mildly swollen (three to four months) and sensitive. Exploration and carpal tunnel decompression of the left wrist with incisional biopsy was performed for the presence of a fusiform swelling intimately associated with the median nerve. Histopathology revealed the presence of enlarged nerve bundles admixed with mature fat cells and diffuse fibroblastic proliferation. Three months later, he underwent urgent contralateral carpal tunnel decompression for a similar presentation. The final diagnosis was bilateral fibrolipomatous hamartoma (FLH) of the median nerves causing acute bilateral compression neuropathy. FLH of the median nerve is an extremely unusual cause of acute bilateral carpal tunnel syndrome in a young child presenting with ‘incessant crying’. A comprehensive review of FLH including epidemiology, etiology, clinical presentation, differential diagnosis, imaging, pathology, treatment and prognosis is discussed. PMID:25332651
Panuganti, Bharat A.; Leach, Matthew
Background: Cerebrospinal fluid (CSF) rhinorrhea and encephaloceles are rare complications of craniofacial advancement procedures performed in patients with craniofacial dysostoses (CD) to address the ramifications of their midface hypoplasia including obstructed nasal airway, exorbitism, and impaired mastication. Surgical repair of this CSF rhinorrhea is complicated by occult elevations in intracranial pressure (ICP), potentially necessitating open, transcranial repair. We report the first case in otolaryngology literature of a patient with Crouzon syndrome with late CSF rhinorrhea and encephalocele formation after previous LeFort III facial advancement surgery. Objectives: Describe the case of a patient with Crouzon syndrome who presented with CSF rhinorrhea and encephaloceles as complications of Le Fort III facial advancement surgery. Review the literature pertaining to the incidence and management of post-operative CSF rhinorrhea and encephaloceles. Analyze issues related to repair of these complications, including occult elevations in ICP, the utility of perioperative CSF shunts, and the importance of considering alternative repair schemes to the traditional endonasal, endoscopic approach. Methods: Review of the literature describing CSF rhinorrhea and encephalocele formation following facial advancement in CD, focusing on management strategies. Results: CSF rhinorrhea and encephalocele formation are rare complications of craniofacial advancement procedures. Occult elevations in ICP complicate the prospect of permanent surgical repair, potentially necessitating transcranial repair and the use of CSF shunts. Though no consensus exists regarding the utility of perioperative CSF drains, strong associations exist between elevated ICP and failed surgical repair. Additionally, the anatomic changes in the frontal and ethmoid sinuses after facial advancement present a challenge to endoscopic repair. Conclusion: Otolaryngologists should be aware of the possibility of
Panuganti, Bharat A; Leach, Matthew; Antisdel, Jastin
Cerebrospinal fluid (CSF) rhinorrhea and encephaloceles are rare complications of craniofacial advancement procedures performed in patients with craniofacial dysostoses (CD) to address the ramifications of their midface hypoplasia including obstructed nasal airway, exorbitism, and impaired mastication. Surgical repair of this CSF rhinorrhea is complicated by occult elevations in intracranial pressure (ICP), potentially necessitating open, transcranial repair. We report the first case in otolaryngology literature of a patient with Crouzon syndrome with late CSF rhinorrhea and encephalocele formation after previous LeFort III facial advancement surgery. Describe the case of a patient with Crouzon syndrome who presented with CSF rhinorrhea and encephaloceles as complications of Le Fort III facial advancement surgery. Review the literature pertaining to the incidence and management of post-operative CSF rhinorrhea and encephaloceles. Analyze issues related to repair of these complications, including occult elevations in ICP, the utility of perioperative CSF shunts, and the importance of considering alternative repair schemes to the traditional endonasal, endoscopic approach. Review of the literature describing CSF rhinorrhea and encephalocele formation following facial advancement in CD, focusing on management strategies. CSF rhinorrhea and encephalocele formation are rare complications of craniofacial advancement procedures. Occult elevations in ICP complicate the prospect of permanent surgical repair, potentially necessitating transcranial repair and the use of CSF shunts. Though no consensus exists regarding the utility of perioperative CSF drains, strong associations exist between elevated ICP and failed surgical repair. Additionally, the anatomic changes in the frontal and ethmoid sinuses after facial advancement present a challenge to endoscopic repair. Otolaryngologists should be aware of the possibility of occult elevations in ICP and sinonasal anatomic
Background and Purpose: The etiology of Chronic Exertional Compartment Syndrome (CECS) is still unclear. The most commonly accepted theory suggests that it is a transient but debilitating process where there is an abnormally increased intracompartmental pressure during exercise/exertion due to non‐compliant expansion of the osteofascial tissues. This most commonly occurs in the lower leg. Surgical intervention is often performed for symptom relief. However, there has been limited scientifically‐based publication on post‐surgical rehabilitation, especially with regard to return to function in the military population. The purpose of this case report is to demonstrate the utilization of a recommended post‐operative protocol in a Special Forces Soldier. Case Description: The subject presented as a 25‐year‐old US Army Special Forces Soldier, who failed 8 weeks of conservative management for the diagnosis of CECS and subsequently underwent bilateral lower leg fasciotomies of the anterior and lateral compartments. Outcomes: Following recommended protocol guidelines he was progressed rapidly and within three months deployed without restriction or complications in a demanding combat zone. Discussion: This case report illustrates that following clearly defined, scientifically‐based rehabilitation guidelines helped in addressing all of the involved structures and musculoskeletal dysfunctions that presented following the surgical intervention for CECS in a unique subject. Level of Evidence: 5 PMID:24175149
McNicholas, N; O'Dowd, S; McNamara, B; O'Toole, O
A 30-year-old man attended the emergency department with a 4-day history of progressive, bilateral upper limb weakness. He had mild shortness of breath and occasional swallowing difficulties. One month prior to presentation, he had flu-like symptoms and diarrhoea. Examination revealed upper limb hypotonia, symmetrical distal arm weakness and hyporeflexia. Power and reflexes in the lower limbs were normal. Nerve conduction studies and lumbar puncture demonstrated features consistent with Guillain-Barré syndrome (GBS). The patient was treated with a 5-day course of intravenous immunoglobulins. He improved significantly over the next 2 weeks. Breathing and swallow function did not deteriorate and required no further intervention. He had a sustained improvement, and remained at baseline 1 year later. Work-up for underlying structural, infectious, inflammatory and paraneoplastic aetiologies were negative. Serum antiganglioside antibodies were positive for the anti-GT1a IgG isotype supporting the clinical diagnosis of the pharyngeal-cervical-brachial variant of GBS.
Sainsbury, David C G; George, Alan; Forrest, Christopher R; Phillips, John H
The authors performed bilateral malar reconstruction using polyether ether ketone implants in 3 patients with Treacher-Collins syndrome with absent, as opposed to hypoplastic, zygomata. These patient-specific implants were fabricated using computed-aided design software reformatted from three-dimensional bony preoperative computed tomography images. The first time the authors performed this procedure the implant compressed the globe resulting in temporary anisocoria that was quickly recognized intraoperatively. The implant was immediately removed and the patient made a full-recovery with no ocular disturbance. The computer-aided design and manufacturing process was adjusted to include periorbital soft-tissue boundaries to aid in contouring the new implants. The same patient, and 2 further patients, subsequently underwent malar reconstruction using this soft tissue periorbital boundary fabrication process with an additional 2 mm relief removed from the implant's orbital surface. These subsequent procedures were performed without complication and with pleasing aesthetic results. The authors describe their experience and the salutary lessons learnt.
Stornelli, Nicole; Wydra, Frank B; Mitchell, Justin J; Stahel, Philip F; Fabbri, Stefka
Lower extremity acute compartment syndrome after gynecologic surgery in the lithotomy position is a rare, yet potentially devastating complication. A high level of suspicion is paramount for early recognition and mitigation of acute compartment syndrome originating from prolonged surgery in lithotomy position. A 23-year-old female, gravida 1, para 0, underwent a laparoscopic salpingectomy for a ruptured ectopic pregnancy. Surgical time was 90 min. Postoperatively, the patient developed acute compartment syndrome of both legs necessitating emergent bilateral four-compartment fasciotomies, with repeated returns to the operating room for 2nd look procedures and delayed wound closures. The patient regained full function within 3 months and returned to an unrestricted baseline activity level. Technical diligence in applying a lithotomy position is paramount for preventing postoperative lower extremity compartment syndrome. A high level of suspicion for this severe complication in conjunction with early recognition and immediate surgical management can mitigate long-term adverse sequelae and improve postoperative outcomes.
Singh, Rajender; Shastry, Prabhakar K; Rasalkar, Avinash A; Singh, Lalji; Thangaraj, K
Androgens drive male secondary sexual differentiation and maturation. Mutations in the androgen receptor (AR) gene cause a broad spectrum of abnormal phenotypes in humans, ranging from mild through partial to complete androgen insensitivity. We have analyzed the AR gene by using denaturing high-performance liquid chromatography (DHPLC) and direct sequencing and have studied gonads histologically in a familial case of complete androgen insensitivity syndrome. Sequence analysis of the AR gene showed a novel C2578T missense mutation, resulting in the replacement of a highly conserved leucine residue with phenylalanine (L859F) in ligand-binding domain of the receptor. The residue L859, located in helix 10 of the androgen receptor, plays a significant role in overall architecture of ligand-binding pocket. The mutation was absent from the father, normal brother of the patients, and 100 normal males recruited in this study as controls. The inheritance of the mutation in the family clearly shows that C2578T is the underlying mutation for the eventual phenotype in the patients. Histology of patient's gonads showed Leydig cell hyperplasia, with a few or no spermatogonium. It is thought that AR gene mutations result in hormonal imbalance, resulting in the high levels of luteinizing hormone (LH) and ultimately Leydig cell hyperplasia or tumor formation. In the present study, we have reported a rare familial case of Leydig cell hyperplasia despite consistently normal LH levels. The finding will help in giving counseling to this family and prevent the transmission of the mutated X chromosome to the coming generations.
Jehle, Sigrid; Walsh, Jane E; Freda, Pamela U; Post, Kalmon D
Few data are available on the selective use of bilateral inferior petrosal sinus sampling (BIPSS) in the presurgical evaluation of patients with ACTH-dependent Cushing's syndrome, so we investigated whether its use only in patients without a clear adenoma on magnetic resonance imaging and/or inconsistent biochemical testing affected remission and long-term outcome after surgery in patients with Cushing's disease (CD). This was a retrospective review of patients treated for CD by one pituitary neurosurgeon at tertiary medical centers in New York City. A total of 193 consecutive adult patients who underwent initial transsphenoidal surgery (TS) for presumed CD between 1987 and 2005 were included. We examined preoperative pituitary imaging and biochemical data, results of BIPSS and surgical pathology, and outcome based on biochemical tests after initial TS and long term after subsequent therapies. Remission rate after the first TS was 80.8% overall, 79.1% in the BIPSS group (n = 105), and 83.0% in the No-BIPSS group (n = 88). Recurrences occurred in 13.5% after the first TS at a mean of 4.8 +/- 3.5 yr (range, 0.7-12.4 yr) with no difference between BIPSS and No-BIPSS groups. Long-term remission was achieved after surgeries and radiotherapy in 85% (86.7% of BIPSS group, 83.0% of No-BIPSS group). CD was ultimately confirmed in all but one patient in each group. Selective use of BIPSS in the preoperative evaluation of patients with presumed CD did not lead to misdiagnosis in the No-BIPSS group or adversely affect remission rates or long-term outcome.
Algahtani, Hussein; Shirah, Bader; Bassuni, Wafaa; Adas, Reem
Numb chin syndrome, also known as mental nerve neuropathy, is a rare sensory neuropathy characterized by paresthesia and hypoesthesia in the area supplied by the mental nerve and its branches. This syndrome may be the first symptom of underlying malignancy or the first sign of recurrence and metastasis in patients with preexisting cancer. In this article, we present two cases with bilateral numb chin syndrome as the first manifestation of Burkitt's lymphoma/leukemia and review the relevant literature. Numb chin syndrome should be considered as a warning sign and raise the suspicion for an underlying malignancy. Bilateral involvement is especially hazardous and must not be underestimated. In fact, an astute neurologist and internist who realizes that chin numbness is a potentially significant symptom can then exclude serious underlying malignancies. Standard diagnostic protocol with different modalities of imaging based on the availability and experience of the radiology team should be mandatory. High index of suspicion should be practiced to avoid delay in diagnosis and progression of the underlying malignancy.
Bassuni, Wafaa; Adas, Reem
Numb chin syndrome, also known as mental nerve neuropathy, is a rare sensory neuropathy characterized by paresthesia and hypoesthesia in the area supplied by the mental nerve and its branches. This syndrome may be the first symptom of underlying malignancy or the first sign of recurrence and metastasis in patients with preexisting cancer. In this article, we present two cases with bilateral numb chin syndrome as the first manifestation of Burkitt's lymphoma/leukemia and review the relevant literature. Numb chin syndrome should be considered as a warning sign and raise the suspicion for an underlying malignancy. Bilateral involvement is especially hazardous and must not be underestimated. In fact, an astute neurologist and internist who realizes that chin numbness is a potentially significant symptom can then exclude serious underlying malignancies. Standard diagnostic protocol with different modalities of imaging based on the availability and experience of the radiology team should be mandatory. High index of suspicion should be practiced to avoid delay in diagnosis and progression of the underlying malignancy. PMID:27882251
Ferri, Raffaele; Manconi, Mauro; Rundo, Francesco; Zucconi, Marco; Aricò, Debora; Bruni, Oliviero; Cosentino, Filomena I I; Ferini-Strambi, Luigi; Fulda, Stephany
The aim of this study was to analyze statistically the number of single leg movements (LMs) forming bilateral LMs during sleep, along with their combined duration, to eventually provide evidence-based data for the adjustment of the current scoring rules defining bilateral LMs. Polysomnographic recordings of 111 untreated patients with RLS with a median age of 56.0 years, along with 42 normal controls with a mean age of 60.0 years, were included. In each recording, we identified all LMs that were considered as bilateral when two or more LMs were overlapping or the onset of the following movement was <0.5 second after the offset of the preceding LM. The remaining LMs were classified as monolateral. A series of parameters were computed for both bilateral and monolateral LMs. The duration of monolateral LMs in RLS patients was significantly longer than that of normal controls. For bilateral LMs, the maximum number of single LMs forming a bilateral movement and the maximum duration were slightly higher in RLS patients; however, the distribution of the number of individual LMs forming a single bilateral LM was similar. Only 0.12% and 0.27% of bilateral LMs consisted of >4 individual movements, and only 0.16% and 1.90% of bilateral LMs were >15 seconds in RLS patients and healthy controls, respectively. Our results strongly suggest that bilateral LMs during sleep should be constituted by no more than four individual LMs and should have a maximum duration of 15 seconds. Copyright © 2016 Elsevier B.V. All rights reserved.
Mazzuco, Tânia L; Chaffanjon, Philippe; Martinie, Monique; Sturm, Nathalie; Chabre, Olivier
Bilateral adrenalectomy is the standard treatment for Cushing's syndrome (CS) related to ACTH-independent bilateral macronodular hyperplasia (AIMAH), although it imposes life-long adrenal insufficiency. This study reports a clinical case in order to discuss the clinical interest of pharmacological beta-blockade of illegitimate membrane receptors and unilateral adrenalectomy as alternatives to bilateral adrenalectomy for treatment of CS due to AIMAH. Evidence for cortisol stimulation by upright posture and insulin-induced hypoglycemia in a patient with CS related to AIMAH led us to try beta-blockers as a therapeutic test and then as a first line treatment. Thus, a 3-day beta-blocker test (320 mg/d propranolol) induced normalization of cortisol secretion, with return of hypercortisolism at the end of the test. A long term treatment with 320 mg/d propranolol allowed sustained normalization of cortisol secretion and progressive disappearance of Cushingoid features but after 8 months the patient complained of Raynaud's syndrome and fatigue. Lowering propranolol dosage or switching to atenolol was less efficient to reduce cortisol levels. Unilateral adrenalectomy was then performed as a second line treatment, leading to normalisation of the 24h urinary cortisol without adrenal insufficiency. Long term control of blood pressure and glycemia were observed during a 7-year follow-up without beta-blocker. In conclusion, a 3-day propranolol test may identify patients with AIMAH who can benefit from a long term beta-blocker treatment. In case of intolerance to beta-blocking agents, unilateral adrenalectomy may allow for long term control of Cushing's syndrome related to AIMAH without adrenal insufficiency.
Lin, P T; Andersson, P-B; Distad, B J; Barohn, R J; Cho, S C; So, Y T; Katz, J S
The authors report four patients with a syndrome of painless bilateral isolated phrenic neuropathy. Electrophysiologic testing demonstrated active denervation restricted to the diaphragm. Long-term recovery was poor. The authors conclude that bilateral isolated phrenic neuropathy is a cause of painless diaphragmatic paralysis distinguishable from immune brachial plexus neuropathy and other neuromuscular disorders with similar clinical presentation.
Kandarakis, Artemios; Karampelas, Michael; Soumplis, Vasileios; Panos, Christos; Makris, Nikolaos; Kandarakis, Stylianos; Karagiannis, Dimitrios
Tourette syndrome is a neurologic disorder that is characterized by repetitive muscle contractions that produce stereotyped movements or sounds. Approximately 50% of individuals with TS also exhibit obsessive-compulsive behaviors including eye rubbing. We report a case of bilateral self-induced keratoconus in a patient with TS, associated with compulsive eye rubbing. A 35-year-old man was first seen in our clinic as an outpatient due to rapid deterioration of vision in his right eye associated with pain and tearing, over a period of one month. Slit lamp biomicroscopy of the right eye showed a central stromal scar due to corneal hydrops. Clinical examination and corneal topography of the left eye were normal. Six months later the patient developed corneal hydrops of his left eye. During the following examinations his vision continued to deteriorate in both eyes, while a central stromal scar was forming in his left cornea. Four years after the initial examination the patient's visual acuity was no light perception in the right eye and counting fingers at 33 cm in the left eye. His right eye was phthisic. Our patient developed a rapidly progressing bilateral corneal ectasia and phthisis of his right eye during a time period of 4 years. This unusual pattern suggests that the patient's compulsive behavior compromised both of his corneas and led to bilateral keratoconus.
Background Tourette syndrome is a neurologic disorder that is characterized by repetitive muscle contractions that produce stereotyped movements or sounds. Approximately 50% of individuals with TS also exhibit obsessive-compulsive behaviors including eye rubbing. We report a case of bilateral self-induced keratoconus in a patient with TS, associated with compulsive eye rubbing. Case presentation A 35-year-old man was first seen in our clinic as an outpatient due to rapid deterioration of vision in his right eye associated with pain and tearing, over a period of one month. Slit lamp biomicroscopy of the right eye showed a central stromal scar due to corneal hydrops. Clinical examination and corneal topography of the left eye were normal. Six months later the patient developed corneal hydrops of his left eye. During the following examinations his vision continued to deteriorate in both eyes, while a central stromal scar was forming in his left cornea. Four years after the initial examination the patient's visual acuity was no light perception in the right eye and counting fingers at 33 cm in the left eye. His right eye was phthisic. Conclusions Our patient developed a rapidly progressing bilateral corneal ectasia and phthisis of his right eye during a time period of 4 years. This unusual pattern suggests that the patient's compulsive behavior compromised both of his corneas and led to bilateral keratoconus. PMID:21936935
Suzuki, Keisuke; Odaka, Masaaki; Tatsumoto, Muneto; Miyamoto, Tomoyuki; Takamatsu, Kazuhiro; Hirata, Koichi
An 88-year-old female with atrial fibrillation and hypertension, was admitted to our hospital with sudden onset diplopia and somnolence. She had right hemiparesis with bilateral positive Babinski's sign. Additionally, there was bilateral blepharoptosis with right esotropia. With regard to extraocular movement, the patient demonstrated conjugate upgaze palsy and left monocular down gaze palsy (vertical one-and-a-half syndrome: VOHS). Horizontal gaze in the left eye was completely impaired and there was limited abduction of the right eye. Magnetic resonance imaging of the brain showed left thalamo-mesencephalic infarction. On day 4, the vertical eye movement developed into conjugate upgaze and down- gaze palsies. Magnetic resonance imaging of the brain indicated high signal lesion extending into the dorsal portion of the midbrain. It was suggested that the pathway to contralateral downgaze neurons could have been damaged due to the unilateral (left) dosal midbrain lesion before its decussation with the unilateral interstitial nucleus of Cajal, the oculomotor nucleus and the rostral interstitial nucleus of the medial longitudinal fasciculus. This case is considered to be important because there has been no previous report of bilateral vertical gaze palsy due to VOHS in the same patient. Since there are various patterns of ocular movement disorder in the thalamo-mesencephalic portion, careful observations are required to localize the lesions.
Vukina, Josip; Chism, David D.; Sharpless, Julie L.; Raynor, Mathew C.; Milowsky, Matthew I.; Funkhouser, William K.
A 33-year-old male with a history of left testis Leydig cell tumor (LCT), 3-month status after left radical orchiectomy, presented with a rapidly enlarging (0.6 cm to 3.7 cm) right testicular mass. He underwent a right radical orchiectomy, sections interpreted as showing a similar Leydig cell-like oncocytic proliferation, with a differential diagnosis including metachronous bilateral LCT and metachronous bilateral testicular tumors associated with congenital adrenal hyperplasia (a.k.a. “testicular adrenal rest tumors” (TARTs) and “testicular tumors of the adrenogenital syndrome” (TTAGS)). Additional workup demonstrated a markedly elevated serum adrenocorticotropic hormone (ACTH) and elevated adrenal precursor steroid levels. He was diagnosed with congenital adrenal hyperplasia, 3β-hydroxysteroid dehydrogenase deficiency (3BHSD) type, and started on treatment. Metachronous bilateral testicular masses in adults should prompt consideration of adult presentation of CAH. Since all untreated CAH patients are expected to have elevated serum ACTH, formal exclusion of CAH prior to surgical resection of a testicular Leydig-like proliferation could be accomplished by screening for elevated serum ACTH. PMID:26351608
Batra, Vivek; Baras, Alexander
We present a case of bilateral lesions in a 50-year-old man, which were on first impression mistaken for and initially treated as bilateral cellulitis. We propose that bilateral cellulitis, as opposed to unilateral, is rare and that other aetiologies should be considered in evaluating a patient with bilateral lesions. The differential diagnosis includes stasis-dermatitis, lipodermatosclerosis, lymphoedema and vascular lesions such as Kaposi sarcoma, as was identified in this case. Early consultation with dermatology and biopsy in unclear cases mitigates the unnecessary use of prolonged antibiotics, antibiotic resistance and Clostridium difficile infections. HIV testing is an essential screening test in all adults who present with non-specific viral symptoms and rash.
Plevraki, Eirini; Kita, Marina; Goulis, Dimitrios G; Hatzisevastou-Loukidou, Hariklia; Lambropoulos, Alexandros F; Avramides, Avraam
To describe the clinical and laboratory features of Mayer-Rokitansky-Küster-Hauser syndrome (MRKH) and to provide evidence for its etiology. Case report. General hospital. Six consecutive cases of MRKH over a period of 12 months. Endocrine evaluation was performed. Genital system abnormalities were studied by pelvic ultrasound, magnetic resonance imaging, and laparoscopy; associated congenital anomalies by bone studies and intravenous pyelogram; and presence of Y chromosome material by karyotype and polymerase chain reaction (PCR and nested PCR). Clinical and laboratory features of MRKH and presence of Y chromosome genes. Endocrine evaluation was normal in five patients. One woman revealed hypergonadotropic hypogonadism due to bilateral absence of gonads. Four patients had symmetric (type A) and two had asymmetric uterine remnants and fallopian tubes (type B). Renal and skeletal malformations were present in both types of MRKH. Karyotype was 46,XX in all patients. Although PCR was negative, nested PCR revealed the testis specific protein 1-Y-linked (TSPY) gene in two women. Skeletal and renal malformations may be present in both MRKH subtypes. Gonadal absence may coexist with the syndrome. This is the first report that detects Y-chromosome genes in patients with MRKH.
Oh, Mi Mi; Ham, Byeong Kuk; Kang, Seok Ho; Bae, Jae Hyun; Kim, Je Jong; Yoo, Ki Hwan; Yoon, Duck Ki; Moon, Du Geon
Lesch-Nyhan syndrome is a rare sex-linked disorder of purine metabolism that is caused by a mutation in the hypoxanthine-guanine phosphoribosyltransferase (HPRT) gene which causes marked hyperuricemia and hyperuricosuria, with signs of gouty arthritis and uric acid stone disease in early childhood. We report a case of renal pelvis calculi which was dissolved within 10 days of urine alkalinization and hydration.
Ciocca, Leonardo; De Crescenzio, Francesca; Fantini, Massimiliano; Scotti, Roberto
Ear defects in patients affected by Treacher Collins syndrome necessitate the replacement of the existing anatomic residuals of the ears with custom-made prostheses. This paper describes a multidisciplinary protocol involving both medicine and computer-aided design/computer-aided manufacturing for manufacturing ear prostheses. Using innovative prototyping technologies together with conventional silicone processing procedures, a step-by-step procedure is presented. The complete workflow includes laser scanning of the defective regions of a patient's face, the use of 3D anatomic models from an ear digital library and rapid prototyping of both substructures for bar anchoring and moulds for silicone processing.
Mogharrabi, Mehdi; Javadi, Hamid; Assadi, Majid
We report a case of myelodysplastic syndrome (MDS) with unusual abnormal 99mTc-MDP activity throughout both lungs on whole-body bone scan. To explain the pancytopenia, bone marrow examination was carried out which showed hypocellularity in addition to large abnormal megakaryocytes indicating myelodysplastic changes. His whole-body bone scan showed increased 99mTc-MDP activity in both lungs, kidneys, and also along the proximal two thirds of the femora. It was concluded that lung uptake in addition to skeletal uptake on scintigraphic bone scanning should be kept in mind in patients with MDS.
Aktas, G E; Soyluoglu Demir, S; Sarikaya, A
The (18)F-FDG PET/CT scan has been suggested for whole-body imaging to identify ectopic adrenocorticotrophic hormone secreting tumours, but there are some challenges involved. The case of a patient is presented, who was admitted with the pre-diagnosis of ectopic ACTH syndrome. On the CT, a nodular lesion was detected in the medial segment of the right lung. The FDG uptake of the lesion seemed to be increased visually, but was not pathological quantitatively (SUVmax: 1.8) on the PET/CT. There was also diffuse increased uptake (SUVmax: 14.2) in the enlarged adrenal glands. The lesion was reported as a possible malignant lesion with low FDG affinity, such as a low grade neuroendocrine tumour, while the diffuse enlarged adrenal glands with high uptake were interpreted as diffusely hyperplasic, due to Cushing's syndrome. The patient was treated with a surgical wedge resection. The histopathological diagnosis confirmed that the tumour was a grade 1 well-differentiated neuroendocrine carcinoma. Copyright © 2015 Elsevier España, S.L.U. and SEMNIM. All rights reserved.
Chronic exertional compartment syndrome of the leg is a debilitating lower extremity condition in which increased intracompartmental pressure impedes blood flow to the involved compartments of the distal lower extremity, resulting in ischemia and pain. Owing to the lack of success with conservative management, most surgeons perform complete release fasciotomy as the preferred method of fasciotomy to avoid an unsuccessful release or outcome. Studies have been performed regarding the outcomes of complete compartmental release versus specific compartmental release, but no study has been performed comparing complete fasciotomy and compartment-specific fasciotomy in a single patient. The purpose of the present case report was to compare the efficacy of a complete fasciotomy versus a specific fasciotomy in 1 patient with properly diagnosed bilateral anterior compartment chronic exertional compartment syndrome with an 18-month follow-up period. The Lower Extremity Functional Scale and both subscales of the Foot and Ankle Ability Measure were administered to assess the functional outcomes. Circumferential measurements and range of motion photographs were taken to compare the objective data throughout the recovery process. In general, the range of motion, circumferential measurements, and functional outcome measure scores were better for the specific compartmental fasciotomy leg than for the complete fasciotomy leg during the recovery period. The overall functional outcomes were the same for both surgical approaches, with the specific fasciotomy leg returning to baseline function 13 to 23 days before the complete fasciotomy leg. The outcomes remained unchanged 18 months after surgery. Copyright © 2015 American College of Foot and Ankle Surgeons. Published by Elsevier Inc. All rights reserved.
Singh, Amit Pal; Kumar, Virad; Narula, Vineet; Meher, Ravi; Raj, Anoop
Branchial sinuses are one of the most common congenital anomalies present. They are usually unilateral; bilateral cases are present but are rare. The presentation of bilateral branchial sinus anomalies along with bilateral first arch anomalies is very rare. Here, we present a case of bilateral first arch anomalies co-existing with bilateral second arch anomalies in a patient with no related family history and no associated syndrome.
Kuhn, Jens; Lenartz, Doris; Huff, Wolfgang; Mai, Jürgen K; Koulousakis, Athanasios; Maarouf, Mohammad; Lee, Sun Hee; Klosterkoetter, Joachim; Sturm, Volker
Objective. Deep brain stimulation (DBS) increasingly attracts attention as a potential treatment of mental disorders. Beside depression and obsessive-compulsive disorders, DBS has already been shown to be beneficial for Tourette syndrome (TS). Clinical Presentation/Method. The authors report on the outcome of a patient with treatment-resistant TS who underwent bilateral DBS of the nucleus accumbens and the internal capsule. Results. Within the 10-month follow-up, a substantial reduction of tics has been observed. Yet, as a side-effect of DBS, the patient developed a transient manic-like episode when primarily stimulated by the most proximally contact in the internal capsule. Conclusions. This case supports the hypothesis that DBS of the nucleus accumbens and the internal capsule represents an effective therapeutic alternative for otherwise treatment-resistant TS. Yet, future controlled studies are needed to determine optimal stimulation parameters and to reduce negative side-effects such as transient hypomanic episodes. © 2008 International Neuromodulation Society.
Nguyen, Mai P; Lawler, Ericka A; Morcuende, Jose A
We report a rare case of a patient with bilateral mirror clubfeet and bilateral hand polydactyly. The patient presented to our orthopaedic clinic with bilateral mirror clubfeet, each with eight toes, and bilateral hands with six fingers and a hypoplastic thumb. The pattern does not fit any described syndrome such as Martin or Laurin-Sandrow syndrome. Treatments by an orthopaedic pediatric surgeon and an orthopaedic pediatric hand surgeon are described. The patient achieved excellent functional and cosmetic outcomes at four year follow-up.
Ke, Jiang-Qiong; Yin, Bo; Fu, Fang-Wang; Shao, Sheng-Min; Lin, Yan; Dong, Qi-Qiang; Wang, Xiao-Tong; Zheng, Guo-Qing
Cervical spine manipulation (CSM) is a commonly spinal manipulative therapies for the relief of cervical spine-related conditions worldwide, but its use remains controversial. CSM may carry the potential for serious neurovascular complications, primarily due to vertebral artery dissection (VAD) and subsequent vertebrobasilar stroke. Here, we reported a rare case of locked-in syndrome (LIS) due to bilaterial VAD after CSM treated by arterial embolectomy.A 36-year-old right-handed man was admitted to our hospital with numbness and weakness of limbs after treating with CSM for neck for half an hour. Gradually, although the patient remained conscious, he could not speak but could communicate with the surrounding by blinking or moving his eyes, and turned to complete quadriplegia, complete facial and bulbar palsy, dyspnea at 4 hours after admission. He was diagnosed with LIS. Then, the patient was received cervical and brain computed tomography angiography that showed bilateral VAD. Aortocranial digital subtraction angiography showed vertebrobasilar thrombosis, blocking left vertebral artery, and stenosis of right vertebral artery. The patient was treated by using emergency arterial embolectomy and followed by antiplatelet therapy and supportive therapy in the intensive care unit and a general ward. Twenty-seven days later, the patient's physical function gradually improved and discharged but still left neurological deficit with muscle strength grade 3/5 and hyperreflexia of limbs.Our findings suggested that CSM might have potential severe side-effect like LIS due to bilaterial VAD, and arterial embolectomy is an important treatment choice. The practitioner must be aware of this complication and should give the patients informed consent to CSM, although not all stroke cases temporally related to SCM have pre-existing craniocervical artery dissection.
Jehle, Sigrid; Walsh, Jane E.; Freda, Pamela U.; Post, Kalmon D.
Context: Few data are available on the selective use of bilateral inferior petrosal sinus sampling (BIPSS) in the presurgical evaluation of patients with ACTH-dependent Cushing’s syndrome, so we investigated whether its use only in patients without a clear adenoma on magnetic resonance imaging and/or inconsistent biochemical testing affected remission and long-term outcome after surgery in patients with Cushing’s disease (CD). Setting: This was a retrospective review of patients treated for CD by one pituitary neurosurgeon at tertiary medical centers in New York City. Patients: A total of 193 consecutive adult patients who underwent initial transsphenoidal surgery (TS) for presumed CD between 1987 and 2005 were included. Main Outcome Measures: We examined preoperative pituitary imaging and biochemical data, results of BIPSS and surgical pathology, and outcome based on biochemical tests after initial TS and long term after subsequent therapies. Results: Remission rate after the first TS was 80.8% overall, 79.1% in the BIPSS group (n = 105), and 83.0% in the No-BIPSS group (n = 88). Recurrences occurred in 13.5% after the first TS at a mean of 4.8 ± 3.5 yr (range, 0.7–12.4 yr) with no difference between BIPSS and No-BIPSS groups. Long-term remission was achieved after surgeries and radiotherapy in 85% (86.7% of BIPSS group, 83.0% of No-BIPSS group). CD was ultimately confirmed in all but one patient in each group. Conclusions: Selective use of BIPSS in the preoperative evaluation of patients with presumed CD did not lead to misdiagnosis in the No-BIPSS group or adversely affect remission rates or long-term outcome. PMID:18796519
Ke, Jiang-Qiong; Yin, Bo; Fu, Fang-Wang; Shao, Sheng-Min; Lin, Yan; Dong, Qi-Qiang; Wang, Xiao-Tong; Zheng, Guo-Qing
Abstract Cervical spine manipulation (CSM) is a commonly spinal manipulative therapies for the relief of cervical spine-related conditions worldwide, but its use remains controversial. CSM may carry the potential for serious neurovascular complications, primarily due to vertebral artery dissection (VAD) and subsequent vertebrobasilar stroke. Here, we reported a rare case of locked-in syndrome (LIS) due to bilaterial VAD after CSM treated by arterial embolectomy. A 36-year-old right-handed man was admitted to our hospital with numbness and weakness of limbs after treating with CSM for neck for half an hour. Gradually, although the patient remained conscious, he could not speak but could communicate with the surrounding by blinking or moving his eyes, and turned to complete quadriplegia, complete facial and bulbar palsy, dyspnea at 4 hours after admission. He was diagnosed with LIS. Then, the patient was received cervical and brain computed tomography angiography that showed bilateral VAD. Aortocranial digital subtraction angiography showed vertebrobasilar thrombosis, blocking left vertebral artery, and stenosis of right vertebral artery. The patient was treated by using emergency arterial embolectomy and followed by antiplatelet therapy and supportive therapy in the intensive care unit and a general ward. Twenty-seven days later, the patient's physical function gradually improved and discharged but still left neurological deficit with muscle strength grade 3/5 and hyperreflexia of limbs. Our findings suggested that CSM might have potential severe side-effect like LIS due to bilaterial VAD, and arterial embolectomy is an important treatment choice. The practitioner must be aware of this complication and should give the patients informed consent to CSM, although not all stroke cases temporally related to SCM have pre-existing craniocervical artery dissection. PMID:26844510
Zahiri Sorouri, Ziba; Sharami, Seyede Hajar; Tahersima, Zinab; Salamat, Fatemeh
Background Laparoscopic ovarian drilling (LOD) is an alternative method to induce ovulation in polycystic ovary syndrome (PCOS) patients with clomiphene citrate (CC) resistant instead of gonadotropins. This study aimed to compare the efficacy of unilateral LOD (ULOD) versus bilateral LOD (BLOD) in CC resistance PCOS patients in terms of ovulation and pregnancy rates. Materials and Methods In a prospective randomized clinical trial study, we included 100 PCOS patients with CC resistance attending to Al-Zahra Hospital in Rasht, Guilan Province, Iran, from June 2011 to July 2012. Patients were randomly divided into two ULOD and BLOD groups with equal numbers. The clinical and biochemical responses on ovulation and pregnancy rates were assessed over a 6-month follow-up period. Results Differences in baseline characteristics of patients between two groups prior to laparoscopy were not significant (p>0.05). There were no significant differences between the two groups in terms of clinical and biochemical responses, spontaneous menstruation (66.1 vs. 71.1%), spontaneous ovulation rate (60 vs. 64.4%), and pregnancy rate (33.1 vs. 40%) (p>0.05). Following drilling, there was a significant decrease in mean serum concentrations of luteinizing hormone (LH) (p=0.001) and testosterone (p=0.001) in both the groups. Mean decrease in serum LH (p=0.322) and testosterone concentrations (p=0.079) were not statistically significant between two groups. Mean serum level of follicle stimulating hormone (FSH) did not change significantly in two groups after LOD (p>0.05). Conclusion Based on results of this study, ULOD seems to be equally efficacious as BLOD in terms of ovulation and pregnancy rates (Registration Number: IRCT138903291306N2). PMID:25918587
Park, Kevin W; Boyer, Martin I; Gelberman, Richard H; Calfee, Ryan P; Stepan, Jeffrey G; Osei, Daniel A
The purpose of this study was to determine if simultaneous bilateral carpal tunnel release (CTR) is a cost-effective strategy compared with bilateral staged CTR for the treatment of bilateral carpal tunnel syndrome. A decision analytic model was created to compare the cost effectiveness of three strategies (ie, bilateral simultaneous CTR, bilateral staged CTR, and no treatment). Direct medical costs were estimated from 2013 Medicare reimbursement rates and wholesale drug costs in US dollars. Indirect costs were derived from consecutive patients undergoing unilateral or simultaneous bilateral CTR at our institution and from national average wages for 2013. Health state utility values were derived from a general population of volunteers using the Short Form-6 dimensions (SF-6D) health questionnaire. Both surgical strategies were cost effective compared with the no-treatment strategy. Bilateral simultaneous CTR had lower total costs and higher total effectiveness than bilateral staged CTR, and had an incremental cost-effectiveness ratio of $921 per quality-adjusted life year compared with the no-treatment strategy. The conclusions of the analysis remained unchanged though all sensitivity analyses, displaying robustness against parameter uncertainty. Surgical management is cost effective for the treatment of bilateral carpal tunnel syndrome. Bilateral simultaneous CTR, however, has lower total costs and higher total effectiveness compared with bilateral staged CTR. Economic and Decision Analysis I.
McCormick, Rodger J; Poling, Mikaela I; Chamberlain, Robert L
Described is the use of bilateral patellar tendon-bearing Symes-type prostheses in a severe case of Freeman-Sheldon syndrome (FSS) in a 21-year-old woman presenting with uncorrectable equinovarus and multiple surgical sequela of the lower extremities. FSS is considered a type of myopathic distal arthrogryposis; diagnosis requires the following: microstomia, whistling-face appearance, H-shaped chin dimpling, nasolabial folds, and multiple contractures of the hands and feet. Spinal deformities, metabolic and gastroenterological problems, other dysmorphic craniofacial characteristics, and visual and auditory impairments, are frequent findings. We highlight what we believe to be a unique approach to enhancing the patient's ability to ambulate and engage in physical activity, particularly critical determinates of wellness and long-term functional outcome in FSS, when the feet are non-correctable but not amputated. Important implications exist for physiatrists, other rehabilitation providers and surgeons regarding this likely under-diagnosed syndrome. 2015 BMJ Publishing Group Ltd.
I report two patient presented to me with bilateral symmetrical ankle edema and bilateral acute iritis. A 42-year-old female of Indian origin and 30-year-old female from Somalia both presented with bilateral acute iritis. In the first patient, bilateral ankle edema preceded the onset of bilateral acute iritis. Bilateral ankle edema developed during the course of disease after onset of ocular symptoms in the second patient. Both patients did not suffer any significant ocular problem in the past, and on systemic examination, all clinical parameters were within normal limit. Lacrimal gland and conjunctival nodule biopsy established the final diagnosis of sarcoidosis in both cases, although the chest x-rays were normal.
Gaudin, Robert A; Jowett, Nathan; Banks, Caroline A; Knox, Christopher J; Hadlock, Tessa A
Bilateral facial palsy is a rare clinical entity caused by myriad disparate conditions requiring different treatment paradigms. Lyme disease, Guillain-Barré syndrome, and leukemia are several examples. In this article, the authors describe the cause, the initial diagnostic approach, and the management of long-term sequelae of bilateral paralysis that has evolved in the authors' center over the past 13 years. A chart review was performed to identify all patients diagnosed with bilateral paralysis at the authors' center between January of 2002 and January of 2015. Demographics, signs and symptoms, diagnosis, initial medical treatment, interventions for facial reanimation, and outcomes were reviewed. Of the 2471 patients seen at the authors' center, 68 patients (3 percent) with bilateral facial paralysis were identified. Ten patients (15 percent) presented with bilateral facial paralysis caused by Lyme disease, nine (13 percent) with Möbius syndrome, nine (13 percent) with neurofibromatosis type 2, five (7 percent) with bilateral facial palsy caused by brain tumor, four (6 percent) with Melkersson-Rosenthal syndrome, three (4 percent) with bilateral temporal bone fractures, two (3 percent) with Guillain-Barré syndrome, one (2 percent) with central nervous system lymphoma, one (2 percent) with human immunodeficiency virus infection, and 24 (35 percent) with presumed Bell palsy. Treatment included pharmacologic therapy, physical therapy, chemodenervation, and surgical interventions. Bilateral facial palsy is a rare medical condition, and treatment often requires a multidisciplinary approach. The authors outline diagnostic and therapeutic algorithms of a tertiary care center to provide clinicians with a systematic approach to managing these complicated patients.
Kilic, Rahmi; Ozdek, Ali; Felek, Sevim; Safak, M Asim; Samim, Erdal
Bilateral simultaneous facial paralysis is an extremely rare clinical entity. Unlike the unilateral form, bilateral facial paralysis seldom falls into Bell's category. It is most often a special finding in a symptom complex of a systemic disease; many of them are potentially life-threatening, and therefore the condition warrants urgent medical intervention. Lyme disease, Guillian-Barre syndrome, Bell's palsy, leukemia, sarcoidosis, bacterial meningitis, syphilis, leprosy, Moebius syndrome, infectious mononucleosis, and skull fracture are the most common cause of bilateral facial paralysis. Here we present a 16-year-old patient with bilateral simultaneous Bell's palsy.
Lang, C; Lehrl, S; Huk, W
A 76-year-old man with bilateral temporal lobe agenesis producing clinical features resembling the Robinson syndrome is described. The malformation was discovered during a routine CT examination after the appearance of a homonymous visual field defect. The patient was examined by (neuro) psychological testing. The findings are compared with other reported cases and discussed with regard to cerebral localisation. Images PMID:7288451
Hall, Daniel John; Bazaraa, Talal
We describe the case of an 85-year-old gentleman admitted with bilateral ptosis and complete bilateral ocular paralysis. Initial differential diagnoses included myasthenia gravis, diabetic cranial neuropathy, an ischaemic event and possible occult neoplasm. Investigations did not support any of the differentials and Miller Fisher syndrome (MFS) was considered. Anti-GQ1b IgG antibody was positive, supporting the possibility of anti-ganglioside syndrome. This gentleman was treated with intravenous immunoglobulin (IVIG) and made a full recovery.
Aggarwal, Ramesh; Dwivedi, Shridhar
Non communicable diseases in most of the developing countries have surpassed the morbidity and mortality arising from communicable diseases. However there are people who continue to suffer from the residual disabilities of some communicable disease acquired at younger age like polio and develop non communicable diseases like COPD and coronary syndrome at older age primarily because of their tobacco habits. Both of these combination of communicable and non communicable diseases are preventable if timely preventive measures and healthy life style is adopted. This case highlights one such case where patient despite suffering from polio and restrictive lung disease started using tobacco and suffered from obstructive lung disease and coronary syndrome.
Mason, Lauren B; Mason, John O
To report a very rare case of bilateral isolated choroidal melanocystosis. Clinical case report and literature review. A 24-year-old asymptomatic African American woman presented with bilateral diffuse choroidal pigmentation. The diagnosis of bilateral isolated choroidal melanocytosis was made, and optical coherence tomography was remarkable for increased choroidal thickness with a normal inner and outer retina. Although extremely rare, bilateral isolated choroidal melanocytosis may occur in young patients, as well as in those who are African American. Longer follow-up of this case and those in the literature will elucidate whether these choroidal lesions enlarge or have a risk of developing uveal melanoma.
Benjelloun, Mohamed; Rabii, Redouane; Mezzour, Mohamed Hicham; Joual, Abdenbi; Bennani, Saâd; el Mrini, Mohamed
Renal angiomyolipoma is a rare benign tumour, often associated with congenital diseases especially de Bourneville's tuberous sclerosis. Bilateral angiomyolipoma is exceptional. The authors report a case of bilateral renal angiomyolipoma in a 33-year-old patient presenting with haemorrhagic shock. In the light of this case and a review of the literature, the authors discuss the diagnostic and therapeutic aspects of this disease.
Kertmen, H.; Gürer, B.; Yimaz, E. R.; Sekerci, Z.
Foot drop is defined as the weakness of the foot and ankle dorsiflexion. Acute unilateral foot drop is a well-documented entity, whereas bilateral foot drop is rarely documented. Slowly progressing bilateral foot drop may occur with various metabolic causes, parasagittal intracranial pathologies, and cauda equina syndrome. Acute onset of bilateral foot drop due to disc herniation is extremely rare. Here we present two cases of acute bilateral foot drop due to disc herniation. The first patient was a 45-year-old man presented with acute bilateral foot drop, without any sign of the cauda equina syndrome. Lumbar magnetic resonance imaging of the patient revealed L4-5 disc herniation. To our knowledge, this is the first presented case of acute bilateral foot drop without any signs of cauda equina syndrome caused by L4-5 disc herniation. The second patient was a 50-year-old man who was also presented with acute bilateral foot drop, and had T12-L1 disc herniation with intradural extension. Also this is the first presented case of T12-L1 disc herniation with intradural extension causing acute bilateral foot drop. We performed emergent decompressive laminectomy to both of the patients and extrude disc materials were excised. Both of the patients were recovered with favorable outcome. PMID:25972945
Surendar, Marappan Natarajan; Pandey, Ramesh Kumar; Khanna, Richa
Taurodontism is a rare dental anomaly in which there is an enlarged pulp chamber at the expense of roots with apical displacement of the pulpal floor, giving it a rectangular shape. It is caused by the failure of Hertwig's epithelial root sheath to invaginate at the proper horizontal level. Taurodontism has been reported as an intraoral feature of several syndromes like Down syndrome, Klinefelter syndrome, Smith-Magenis syndrome, Hurler syndrome, etc. Association of taurodontism with hypodontia in permanent dentition has also been reported. Taurodontism in primary dentition and its association with hypodontia is very rarely reported in the literature. The present case illustrates bilateral taurodontism of primary mandibular molars with hypodontia in maxilla.
Wali, Aisha Syed; Khan, Rozilla Sadia
With the increase in incidence of ectopic pregnancy over the decades, bilateral ectopic pregnancy is also increasing. It is usually associated with assisted reproductive techniques (ART) but in recent years few cases of spontaneous bilateral ectopic pregnancy have been reported. Gynaecologists should be aware of this and that ultrasonography has limitations in diagnosis. In cases of ectopic pregnancy where contralateral adnexa is not clearly identified on ultrasound and fertility needs to be conserved, patient should be managed by experts in well equipped centres. A case of spontaneous bilateral tubal pregnancy that remained undiagnosed till laparotomy, is described.
Siu, Yuk Chuen; Lui, Tun Hing
Introduction: Unilateral anterior shoulder dislocation is one of the most common problems encountered in orthopedic practice. However, simultaneous bilateral anterior dislocation of the shoulders is quite rare. Case Presentation: We report a case of a 75-year-old woman presented with simultaneous bilateral anterior shoulder dislocation following a trauma, complicated with a traction injury to the posterior cord of the brachial plexus. Conclusions: Bilateral anterior shoulder dislocation is very rare. The excessive traction force during closed reduction may lead to nerve palsy. Clear documentation of neurovascular status and adequate imaging before and after a reduction should be performed. PMID:25685749
Stumpf, Steven H.; Shapiro, Simon J.
Unstated and unacknowledged bias has a profound impact on the nature and implementation of integrative education models. Integrative education is the process of training conventional biomedical and traditional Chinese medicine practitioners in each tradition such that patient care may be effectively coordinated. A bilateral education model ensures that students in each tradition are cross-taught by experts from the ‘other’ tradition, imparting knowledge and values in unison. Acculturation is foundational to bilateral integrative medical education and practice. Principles are discussed for an open-minded bilateral educational model that can result in a new generation of integrative medicine teachers. PMID:16786060
Ferran, M; Bussaglia, E; Matias-Guiu, X; Pujol, R M
Palmoplantar punctate keratoses may be the main cutaneous sign of various diseases (porokeratosis punctata palmaris et plantaris, keratosis punctata of the palmar creases, familial punctate palmoplantar keratoderma) or represent a secondary feature [Cowden's syndrome (CS) and Darier's disease]. In CS, such keratoses usually appear during the second and third decades of life, together with other mucocutaneous features. We present the case of a 3-year-old girl with palmoplantar punctate keratoses in whom diagnosis of new-onset CS was suspected only after the development of other cutaneous lesions. Genetic analysis confirmed the diagnosis. This case highlights the necessity to consider CS in the differential diagnosis when palmoplantar punctate keratoses are found, even in paediatric patients. A prompt diagnosis is important in order to monitor the development of possible underlying associated neoplasms.
Whelan, Chris; Schwartz, Bradley F
We report on a patient with bilateral ureteral calculi composed of guaifenesin metabolite as determined by infrared spectroscopy. These stones may be associated with excessive guaifenesin intake related to the current popularity of ephedrine preparations.
Govil, Somya; Gupta, Vishesh; Misra, Neeta; Misra, Pradyumna
The bilateral lateral periodontal cyst is a rare nasological entity, which despite clinical and radiological presentation is being diagnosed by histological characteristics. It is asymptomatic in nature and is observed in routine radiography. The aim and objective of this article is to present a rare case of bilateral lateral periodontal cyst in a 14-year-old child. The clinical and radiographical findings, along with its management have been discussed. Enucleation of bilateral cyst without extraction of the adjacent tooth was performed. Lesion samples were sent for histopathological analysis. The histopathological analysis revealed a thin, non keratinised stratified squamous epithelium resembling reduced enamel epithelium. Epithelial plaques were also seen. A clinicopathological correlation incorporating the surgical, radiographical and gold standard histopathological findings was obtained to suggest the final diagnosis of the bilateral lateral periodontal cyst.
Peyrí Rey, E; Riverola Manzanilla, A; Cañas Tello, M A
A rare case of asymtomatic synchronous bilateral granulomatous orchitis idiopathic is decribed. In the scrotal ultrasonography are multiple hypoecoic areas, differential diagnosis between testicular tumor and granulomatous orchitis is very difficult in any examination by histological findings.
Morales, Luis C; Alvarado, Fernando; Corredor, José A; Rodríguez, Andrés
Many etiologies can lead to atlantoaxial subluxaion. In Grisel syndrome (GS), this subluxation occurs spontaneously after inflammatory processes of the head and neck. Diagnosis is typically based on clinical history and a strong suspicion of this syndrome. Nonsurgical treatment most often resolves the symptoms; however, in some cases surgical treatment is necessary to repair the subluxation. Various surgical techniques and instrumentation systems have been used to treat atlantoaxial subluxation, although there is no consensus regarding the best treatment method for the pediatric population. To describe a case of atlantoaxial subluxation in a child with GS treated surgically with an alternative construct. This is a case report and literature review. Our case study involves a 5-year-old girl with a 6-month history of unresolved Fielding type II atlantoaxial subluxation caused by GS. Despite conservative treatment, the patient's symptoms continued to progress. After two failed closed reduction attempts, open reduction and C1-C2 fusion were performed with atlas laminar hook and axis pedicle polyaxial screws. A literature review of the surgical treatment of GS was also performed. After surgery, the patient exhibited full clinical and functional recovery with complete resolution of symptoms. At the 36-month follow-up examination, there was continual evidence of satisfactory reduction and fusion. No complications were observed. Upon completion of the literature review, eight GS cases were found to have been treated surgically with the minimum patient age being 9 years. Conservative management of GS is the most common and effective treatment; however, a few surgical cases have been reported in the literature with good results. Satisfactory clinical results and fusion at 36 months post surgery were seen in a pediatric patient with atlantoaxial subluxation and instability using atlas laminar hook and axis pedicle polyaxial screws. Copyright Â© 2016 Elsevier Inc. All rights
Zhao, Wenchan; Wang, Sishuo; Lv, Jianhao
Echinoderms take many forms of symmetry. Pentameral symmetry is the major form and the other forms are derived from it. However, the ancestors of echinoderms, which originated from Cambrian period, were believed to be bilaterians. Echinoderm larvae are bilateral during their early development. During embryonic development of starfish and sea urchins, the position and the developmental sequence of each arm are fixed, implying an auxological anterior/posterior axis. Starfish also possess the Hox gene cluster, which controls symmetrical development. Overall, echinoderms are thought to have a bilateral developmental mechanism and process. In this article, we focused on adult starfish behaviors to corroborate its bilateral tendency. We weighed their central disk and each arm to measure the position of the center of gravity. We then studied their turning-over behavior, crawling behavior and fleeing behavior statistically to obtain the center of frequency of each behavior. By joining the center of gravity and each center of frequency, we obtained three behavioral symmetric planes. These behavioral bilateral tendencies might be related to the A/P axis during the embryonic development of the starfish. It is very likely that the adult starfish is, to some extent, bilaterian because it displays some bilateral propensity and has a definite behavioral symmetric plane. The remainder of bilateral symmetry may have benefited echinoderms during their evolution from the Cambrian period to the present. PMID:22247765
Ji, Chengcheng; Wu, Liang; Zhao, Wenchan; Wang, Sishuo; Lv, Jianhao
Echinoderms take many forms of symmetry. Pentameral symmetry is the major form and the other forms are derived from it. However, the ancestors of echinoderms, which originated from Cambrian period, were believed to be bilaterians. Echinoderm larvae are bilateral during their early development. During embryonic development of starfish and sea urchins, the position and the developmental sequence of each arm are fixed, implying an auxological anterior/posterior axis. Starfish also possess the Hox gene cluster, which controls symmetrical development. Overall, echinoderms are thought to have a bilateral developmental mechanism and process. In this article, we focused on adult starfish behaviors to corroborate its bilateral tendency. We weighed their central disk and each arm to measure the position of the center of gravity. We then studied their turning-over behavior, crawling behavior and fleeing behavior statistically to obtain the center of frequency of each behavior. By joining the center of gravity and each center of frequency, we obtained three behavioral symmetric planes. These behavioral bilateral tendencies might be related to the A/P axis during the embryonic development of the starfish. It is very likely that the adult starfish is, to some extent, bilaterian because it displays some bilateral propensity and has a definite behavioral symmetric plane. The remainder of bilateral symmetry may have benefited echinoderms during their evolution from the Cambrian period to the present.
Review the indications, outcomes, and consequences of bilateral adrenalectomy (BLA) in patients with Cushing's disease. A literature review was performed. The primary therapy for Cushing's disease is surgery, with medical therapy and radiation therapy relegated to an adjuvant role. BLA is indicated in cases of persistent disease following pituitary surgery or in situations where rapid normalization of hypercortisolism is required. When performed via the laparoscopic approach, BLA is associated with a significantly reduced morbidity compared to the traditional, open approach. Following BLA, patients are at risk for adrenal crisis and the concern of Nelson's syndrome. However, BLA leads to a rapid resolution of the signs and symptoms of CS and leads to an improved long-term quality of life. BLA should be considered in the treatment algorithm for patients with persistent CD after failed pituitary surgery, especially in patients who have severe consequences of hypercortisolism or desire pregnancy.
Kuriyama, N; Yamamoto, Y; Akiguchi, I; Oiwa, K; Nakajima, K
We reported a 67-year-old woman with bilateral caudate head infarcts. She developed sudden mutism followed by abulia. She was admitted to our hospital 2 months after ictus for further examination. She showed prominent abulia and was inactive, slow and apathetic. Spontaneous activity and speech, immediate response to queries, spontaneous word recall and attention and persistence to complex programs were disturbed. Apparent motor disturbance, gait disturbance, motor aphasia, apraxia and remote memory disturbance were not identified. She seemed to be depressed but not sad. Brain CT and MRI revealed bilateral caudate head hemorrhagic infarcts including bilateral anterior internal capsules, in which the left lesion was more extensive than right one and involved the part of the left putamen. These infarct locations were thought to be supplied by the area around the medial striate artery including Heubner's arteries and the A1 perforator. Digital subtraction angiography showed asymptomatic right internal carotid artery occlusion. She bad had hypertension, diabetes mellitus and atrial fibrillation and also had a left atrium with a large diameter. The infarcts were thought to be caused by cardioembolic occlusion to the distal portion of the left internal carotid artery. Although some variations of vasculature at the anterior communicating artery might contribute to bilateral medial striate artery infarcts, we could not demonstrate such abnormalities by angiography. Bilateral caudate head infarcts involving the anterior internal capsule may cause prominent abulia. The patient did not improve by drug and rehabilitation therapy and died suddenly a year after discharge.
Perez, Jesus; Scherle, Claudio; Machado, Calixto
Simultaneous or subsequent bilateral thalamic haemorrhage is rare, and most reported cases are from Asian countries. An 80-year-old white Cuban man, with a history of arterial hypertension, suffered sudden onset of right hemiparesis. Computed tomography (CT) scan showed a left posteromedial thalamic haemorrhage. Two days later his condition suddenly deteriorated: blood pressure was 220/105 mm Hg, he was stuporous and tetraplegic, respiration was ataxic, and his gaze was fixed and deviated downward and inward. CT scan showed haemorrhages in both thalami, extending to the ventricles. 32 h later the patient died. There are few previous publications of simultaneous or subsequent bilateral thalamic haemorrhages and this is the first report involving a Hispanic patient. Prognosis in patients with bilateral thalamic haemorrhage is poor, and the mechanism underlying the development of subsequent and symmetrical bleeding is not clear. PMID:21709830
Parry, W; Breckenridge, I; Khalil, Y F
Congenital abnormalities of the ribs, including slipping or clicking rib, are well recognised but rarely give rise to symptoms. Slipping rib has previously been described as a unilateral condition. We report an unusual case of symptomatic bilateral slipping ribs treated successfully by surgery. PMID:2928991
Kotwal, Narendra; Kumar, Yogesh; Upreti, Vimal; Singh, Amandeep; Garg, M. K.
Context: Anatomical localization of pituitary adenoma can be challenging in adrenocorticotropic hormone (ACTH)-dependent Cushing's syndrome, and bilateral inferior petrosal sinus sampling (BIPSS) is considered gold standard in this regard. Stimulation using corticotrophin-releasing hormone (CRH) improves the sensitivity of BIPSS, however, same is not easily available in India. Therefore, we undertook this study of BIPPS using vasopressin as agent for stimulation owing to its ability to stimulate V3 receptors present on corticotrophs. Aims: To study the tumor localization and lateralization in difficult to localize cases of ACTH-dependent Cushing's syndrome by bilateral inferior petrosal sinus sampling using vasopressin for corticotroph stimulation. Settings and Design: Prospective observational study. Subjects and Methods: Six patients (5 females) meeting inclusion criteria underwent BIPSS using vasopressin for stimulation. Results: All six patients had nonsuppressible overnight and low dose dexamethasone suppression test with elevated plasma ACTH levels suggestive of ACTH-dependent Cushing's syndrome. High dose dexamethasone suppression test showed suppressible cortisol in two cases, and microadenoma was seen in two patients on magnetic resonance imaging pituitary. Contrast enhanced computed tomography of the abdomen showed left adrenal hyperplasia in one case and anterior mediastinal mass with bilateral adrenal hyperplasia another. Using BIPSS four patients were classified as having Cushing's disease that was confirmed histopathologically following surgery. Of the remaining two, one had primary pigmented nodular adrenocortical disease, and another had thymic carcinoid with ectopic ACTH production as the cause of Cushing's syndrome. No serious adverse events were noted. Conclusions: Vasopressin may be used instead of CRH and desmopressin for stimulation in BIPSS. PMID:27186561
Hall, A C; Leong, A C; Jiang, D; Fitzgerald-O'Connor, A
Bilateral sensorineural hearing loss associated with recurrent urticarial skin lesions may be signs of underlying Muckle-Wells syndrome. Previous reports have described the hearing loss to be progressive in nature. To our knowledge, this paper presents the first published case of sudden onset, bilateral sensorineural hearing loss associated with urticarial vasculitis due to underlying Muckle-Wells syndrome. The patient underwent a cochlear implantation with a modest outcome. Cochlear implantation may help to rehabilitate sudden hearing loss associated with this condition, but early diagnosis may allow treatment with interleukin-1β inhibitors such as anakinra.
Pasternak, Jesse D; Seib, Carolyn D; Seiser, Natalie; Tyrell, J Blake; Liu, Chienying; Cisco, Robin M; Gosnell, Jessica E; Shen, Wen T; Suh, Insoo; Duh, Quan-Yang
Adrenal incidentalomas are found in 1% to 5% of abdominal cross-sectional imaging studies. Although the workup and management of unilateral lesions are well established, limited information exists for bilateral incidentalomas. To compare the natural history of patients having bilateral incidentalomas with those having unilateral incidentalomas. Retrospective analysis of a prospective database of consecutive patients referred to an academic multidisciplinary adrenal conference. The setting was a tertiary care university hospital among a cohort of 500 patients with adrenal lesions between July 1, 2009, and July 1, 2014. Prevalence, age, imaging characteristics, biochemical workup, any intervention, and final diagnosis. Twenty-three patients with bilateral incidentalomas and 112 patients with unilateral incidentalomas were identified. The mean age at diagnosis of bilateral lesions was 58.7 years. The mean lesion size was 2.4 cm on the right side and 2.8 cm on the left side. Bilateral incidentalomas were associated with a significantly higher prevalence of subclinical Cushing syndrome (21.7% [5 of 23] vs 6.2% [7 of 112]) (P = .009) and a significantly lower prevalence of pheochromocytoma (4.3% [1 of 23] vs 19.6% [22 of 112]) (P = .003) compared with unilateral lesions, while rates of hyperaldosteronism were similar in both groups (4.3% [1 of 23] vs 5.4% [6 of 112]) (P > .99). Only one patient with bilateral incidentalomas underwent unilateral resection. The mean follow-up was 4 years (range, 1.2-13.0 years). There were no occult adrenocortical carcinomas. Bilateral incidentalomas are more likely to be associated with subclinical Cushing syndrome and less likely to be pheochromocytomas. Although patients with bilateral incidentalomas undergo a workup similar to that in patients with unilateral lesions, differences in their natural history warrant a greater index of suspicion for subclinical Cushing syndrome.
Cankurtaran, Mustafa; Oyan, Basak; Kiliçkap, Sadettin; Yavuz, Burcu Balam; Batman, Figen
Idiopathic multifocal fibrosclerosis is a rare disorder which is usually misdiagnosed in the clinics. We try to make a review of the literature about this large spectrum syndrome and treatment modalities other than surgery. Our patient interestingly have both fibrosclerosis of bilateral ureters, orbits and thyroid. Steroids, radiotherapy, tamoxifen, vitaminD3, colchisine was found to be in effective in treatment of progressive fibrosis.
Dentigerous cysts are common odontogenic cysts that are associated with the crown of the tooth and typically develop from single lesions. Bilateral and multiple dentigerous cysts are very rare and occur in patients with syndromic conditions. This paper presents a case report of a 15-year-old male patient that experienced non-syndromic bilateral dentigerous cysts that simultaneously occurred in all four dental quadrants around the unerupted third molars. Clinicians should confirm the extent of cystic lesions using a panoramic view and computed tomography, and should keep the possibility of bilateral dentigerous cysts in mind as a potential diagnosis, even in a non-syndromic patient. PMID:27162755
Mulliken, John B
The surgeon's objectives are normal nasolabial appearance and normal speech. The principles for synchronous repair of bilateral cleft lip have been established, and the techniques continue to evolve. Primary repair impairs maxillary growth, but little can be done at this time except to practice gentle craftsmanship and to minimize tension on the lower labial closure. The cutaneous lip should never be reopened for revision, and the number of secondary procedures involving the nasal cartilages should be kept to a minimum. Many adolescents with repaired bilateral cleft lip need maxillary advancement to improve projection of the nasal tip, to protrude the upper lip, and to attain normal sagittal skeletal harmony. With expected improvements in the technology of distraction osteogenesis, maxillary advancement may someday become as acceptable as orthodontic treatment.
The author reports the case of a well and fit patient who presented herself to the emergency department and was found to have bilateral emphysematous pyelonephritis. She was admitted to the intensive care where she was initially treated conservatively with antibiotics, percutaneous drainage and continuous renal replacement therapy, but her condition deteriorated. She underwent a left total nephrectomy and a partial right nephrectomy that resulted in remarkable improvement. The patient started passing urine spontaneously, so no haemofiltration was required. She was discharged home and her case was followed-up by an urologist and nephrologist. This case lays emphasis on thoroughly investigating and managing a patient with bilateral emphysematous pyelonephritis and, in relation to its management, on the dilemma of whether the treatment of choice should be conservative or surgical. PMID:22707665
Suganthy, J; Rassau, Marina; Koshi, Rachel; Battacharjee, Suranjan
Congenital absence of tibia is a rare anomaly. We report a case of bilateral tibial hemimelia born to phenotypically normal parents. The two amputated legs with tibial dysplasia obtained from a 3-year-old boy were studied by radiography and anatomical dissection. The radiological evaluation revealed a normal hip joint. The lower end of femur was normal without any bifurcation, shortening or bowing. Fibula was present on both legs and there was no sign of bowing or doubling. Both right and left tibiae were absent. In addition, on the right side, five tarsal bones, two metatarsals and the corresponding digital rays were absent. On the left side, three tarsal bones were absent. Dissection of the amputated segments showed the presence of extensor digitorum longus, peroneus tertius, peroneus longus and brevis, gastrocnemius, and soleus. Following bilateral knee disarticulation the patient was fitted with prosthesis and is doing well.
Oskarsson, Palmi; Walker, Craig Andrew; Leigh-Smith, Simon
A 50-year-old woman was brought to the emergency department with shortness of breath and chest tightness following acupuncture to her upper back for a chronically painful left shoulder. She had symptoms of respiratory distress and chest X-ray revealed bilateral pneumothoraces. Symptoms resolved after insertion of bilateral Seldinger chest drains. She was admitted to the Cardiothoracic Surgery ward, chest drains were removed on the second and third days and the patient was discharged from hospital after 3 days. Clinicians and acupuncturists should be aware of this adverse event following acupuncture. © 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.
Malcolm, A.W.; Jaffe, N.; Folkman, M.J.; Cassady, J.R.
Twenty children with bilateral Wilms' tumor were presented to the Children's Hospital Medical Center and Children's Cancer Research Foundation, Sidney Farber Cancer Institute, and Joint Center for Radiation Therapy (CHMC-CCRF, SFCI, JCRT) from January 1, 1956 to December 31, 1976. Of these 20, 16 had simultaneous and 4 had metachronous disease on presentation. All patients were treated with surgery, radiation and chemotherapy. Of the 16 patients with simultaneous disease, 10 (63%) are alive and free of disease 12+ to 175+ months post diagnosis and treatment, with median follow-up of 121 months. There were no long-term survivors in the metachronous group; all were dead of disease within 21 months from initial presentation of original tumor. With these data we relate prognosis to extent of disease and discuss a general approach to the management of bilateral Wilms' tumor.
Bilateral renal calculi were present in 114 (10.7%) of 1,070 cases of proved urinary calculus admitted to the Urological Department of the General Hospital, Kuala Lumpur, during the period November 1968—May 1973. The management of bilateral renal calculi is discussed with reference to the first 100 cases in this series. The introduction of renography has greatly facilitated the decision as to which kidney should be operated on first. The management of patients with and without uraemia is discussed and the use of the modified V and V—Y incisions for the removal of staghorn calculi is described. Complications and results are briefly reviewed. ImagesFig. 1Fig. 4Fig. 6Fig. 7 PMID:4845653
Nazim, Korkut; Mehmet, Yilmaz; Tuna, Edizer Deniz; Marlen, Mamanov Asanbekovich
We reported a case of bilateral internal acoustic canal mass. A 42-year-old man patient was previously treated for colon cancer. After surgery during chemotherapy signs as severe vertigo and bilateral sudden hearing loss occurred. Temporal bone magnetic resonance imaging (MRI) had bilateral internal acoustic canal masses.
Srinivas, Maskal Revanna; Vaishali, Dhulappa Mudabasappagol; Vedaraju, Kadaba Shamachar; Nagaraj, Bangalore Rangaswamy
Möbius syndrome is an extremely rare congenital disorder. We report a case of Möbius syndrome in a 2-year-old girl with bilateral convergent squint and left-sided facial weakness. The characteristic magnetic resonance imaging (MRI) findings of Möbius syndrome, which include absent bilateral abducens nerves and absent left facial nerve, were noted. In addition, there was absence of left anterior inferior cerebellar artery (AICA) and absence of bilateral facial colliculi. Clinical features, etiology, and imaging findings are discussed. PMID:28104946
Pandya, Vaidehi K; Shah, Maulin K; Gandhi, Shruti P; Patel, Himanshu V
Renal Lymphangiectasia (RLM) is very rare benign lymphatic malformation. It can be misdiagnosed for other cystic renal masses, most commonly polycystic kidneys. Though incidentally found in most cases, it may be the cause for hypertension and renal failure in undiagnosed patients. Here, we report a case of an adult asymptomatic male with bilateral RLM which was detected as an incidental finding on ultrasound. Confirmation by CT-scan and laboratory diagnosis of aspirated fluid was done, and patient was managed conservatively.
Suqati, Abrar A.; Alherabi, Ameen Z.; Marglani, Osama A.; Alaidarous, Tariq O.
Laryngocele is an uncommon condition that represents a benign dilatation of the laryngeal saccule with air and/or fluid, arising in the region of the laryngeal ventricle. Laryngoceles, or laryngomucocele can be classified as internal, or combined. The aim of presenting this rare case of a bilateral combined laryngocele, are to emphasize the importance of diagnostic laryngoscopy in upper airway pathologies evaluation, increase awareness in the general otolaryngologist community, and to highlight the external surgical method. PMID:27464869
Herisson, O; Dury, M; Rapp, E; Marin-Braun, F
Carpal tunnel syndrome is the most common entrapment syndrome. The incidence of a bilateral condition varies between 22% and 87%. The aim of our study was to assess the level of satisfaction and the clinical outcomes in a group of patients operated on through a bilateral neurolysis on the median nerve in the carpal tunnel, in one operating session. This is a retrospective study involving patients with an electromyographic and clinical diagnosis of bilateral carpal tunnel syndrome. Patients were treated on an outpatient basis and the bilateral neurolysis was performed by endoscopy. The postoperative data was collected during consultation by a senior surgeon or during telephone interviews. Patients were asked to respond to a satisfaction questionnaire and the functional outcome was assessed through the Quick-Disabilities of the Arm, Shoulder, and Hand (Quick-DASH) questionnaire. Twenty-nine patients with bilateral carpal tunnel syndrome were operated on in single operating sessions between January 2009 and January 2014. The average follow-up was 46 months. The average age at the time of the intervention was 45 years. Two patients were lost to follow-up, and 27 were able to be assessed. In relation to the clinical and functional outcomes, the average Quick-DASH score was 6.78 (ranges: 0-43.2). Twenty-five patients (92.5%) were satisfied with this simultaneous treatment and 26 patients (96%) would choose the same technique again. One-stage surgery in cases of bilateral carpal tunnel syndrome appears to constitute a benefit for the patient, the surgeon and the anaesthetist, but it is reserved for patients who request it and who are motivated by this type of intervention.
Chapuis, Y; Pitre, J; Conti, F; Abboud, B; Pras-Jude, N; Luton, J P
Transsphenoidal pituitary surgery has radically modified the management of pituitary-dependent hypercortisolism (Cushing's disease). Bilateral adrenalectomy may, however, represent the ultimate treatment in some cases of hypercortisolism. In the present study we report our experience of bilateral adrenalectomy in 82 patients operated on during the last 15 years. The causes of hypercortisolism were Cushing's disease (n = 78), ectopic ACTH syndrome (n = 3), and primary adrenocortical nodular dysplasia (Carney-Meador syndrome) (n = 1). Before operation 37% of the patients had severe symptoms of hypercortisolism. A bilateral posterior approach was undertaken in 58 patients, whereas 18 patients had an anterior transabdominal approach and 6 patients a laparoscopic approach. There were two operative deaths (2.4%). Postoperative complications occurred mostly in cases of advanced disease and were observed in 14 patients (17%), among whom 4 had severe complications. At long-term follow-up, one recurrence of hypercortisolism and 12 Nelson syndromes (15%) were observed. In conclusion, bilateral adrenalectomy carries an acceptable operative risk, and we recommend bilateral adrenalectomy rather than long-term suppressive therapy in patients requiring prompt and definitive control of their hypercortisolism or after pituitary surgery failure.
Grossrubatscher, Erika; Dalino Ciaramella, Paolo; Boccardi, Edoardo
Simultaneous bilateral inferior petrosal sinus sampling (BIPSS) plays a crucial role in the diagnostic work-up of Cushing’s syndrome. It is the most accurate procedure in the differential diagnosis of hypercortisolism of pituitary or ectopic origin, as compared with clinical, biochemical and imaging analyses, with a sensitivity and specificity of 88–100% and 67–100%, respectively. In the setting of hypercortisolemia, ACTH levels obtained from venous drainage of the pituitary are expected to be higher than the levels of peripheral blood, thus suggesting pituitary ACTH excess as the cause of hypercortisolism. Direct stimulation of the pituitary corticotroph with corticotrophin-releasing hormone enhances the sensitivity of the procedure. The procedure must be undertaken in the presence of hypercortisolemia, which suppresses both the basal and stimulated secretory activity of normal corticotrophic cells: ACTH measured in the sinus is, therefore, the result of the secretory activity of the tumor tissue. The poor accuracy in lateralization of BIPSS (positive predictive value of 50–70%) makes interpetrosal ACTH gradient alone not sufficient for the localization of the tumor. An accurate exploration of the gland is recommended if a tumor is not found in the predicted area. Despite the fact that BIPSS is an invasive procedure, the occurrence of adverse events is extremely rare, particularly if it is performed by experienced operators in referral centres. PMID:27352844
Zampetti, Benedetta; Grossrubatscher, Erika; Dalino Ciaramella, Paolo; Boccardi, Edoardo; Loli, Paola
Simultaneous bilateral inferior petrosal sinus sampling (BIPSS) plays a crucial role in the diagnostic work-up of Cushing's syndrome. It is the most accurate procedure in the differential diagnosis of hypercortisolism of pituitary or ectopic origin, as compared with clinical, biochemical and imaging analyses, with a sensitivity and specificity of 88-100% and 67-100%, respectively. In the setting of hypercortisolemia, ACTH levels obtained from venous drainage of the pituitary are expected to be higher than the levels of peripheral blood, thus suggesting pituitary ACTH excess as the cause of hypercortisolism. Direct stimulation of the pituitary corticotroph with corticotrophin-releasing hormone enhances the sensitivity of the procedure. The procedure must be undertaken in the presence of hypercortisolemia, which suppresses both the basal and stimulated secretory activity of normal corticotrophic cells: ACTH measured in the sinus is, therefore, the result of the secretory activity of the tumor tissue. The poor accuracy in lateralization of BIPSS (positive predictive value of 50-70%) makes interpetrosal ACTH gradient alone not sufficient for the localization of the tumor. An accurate exploration of the gland is recommended if a tumor is not found in the predicted area. Despite the fact that BIPSS is an invasive procedure, the occurrence of adverse events is extremely rare, particularly if it is performed by experienced operators in referral centres.
Bonafonte Marquez, Elena; Bonafonte Royo, Sergio
We present a rare case of bilateral pseudoexfoliative deposits on both intraocular lens (IOL) implants in an 83-year-old woman with no other associated pathology, 5 years after cataract surgery. Pseudoexfoliation syndrome is the most common cause of secondary open-angle glaucoma worldwide and these deposits are usually found on the natural lens. The fact that pseudoexfoliative deposits have been found on IOL implants implies the need for a thorough examination in pseudophakic patients, for it could be the only sign of secondary glaucoma. PMID:25713742
Min, Jun Won; Park, Youn Joon; Kim, Hee Jin
About ten percent of pheochromocytomas are associated with familial syndrome. Hereditary pheochromocytoma has characteristics of early onset, multifocality and bilaterality. We experienced a case of 44-year-old man with bilateral pheochromocytoma without evidence of medullary thyroid cancer. Genetic test detected a L790F germline mutation of RET oncogene. The author found a necessity for genetic tests in cases of young-age, bilateral pheochromocytoma. PMID:22403753
Kar, Jugal Kishore; Kar, Manoranjan; Maiti, Saswati; Sen, Eva
Isolated idiopathic bilateral temporalis muscle hypertrophy is a very rare clinical entity. It can change the facial appearance that manifests itself as a morphopsychological conflict for the subject, which is termed as 'Minotaur syndrome' in the medical literature. Here one such case is reported. The second patient sought medical attention for fear of malignancy.
Southerland, Andrew M; Login, Ivan S
Hemicrania continua (HC) is a headache syndrome characterized by continuous, unilateral head pain, autonomic features, and a complete therapeutic response to indomethacin. Although HC is classified as a unique entity among primary headache disorders, it clearly shares features with other primary headaches, including trigeminal autonomic cephalalgias, and chronic daily headaches, such as chronic migraine and chronic tension-type headache. In addition, the diagnosis is often delayed secondary to a relatively low incidence and the occurrence of some phenotypic variability as found in previous case series. A 62-year-old woman presented with 5 months of unremitting, bilateral headache with significant autonomic symptoms during exacerbations of pain. Neurological examination and imaging studies were normal. After failure to respond to numerous previous therapeutic medicines and interventions, she experienced complete resolution following administration of indomethacin and eventual remission on sustained treatment. This case demonstrates that hemicrania continua with requisite autonomic features can occur in a purely bilateral form. Although the definitive aspects of HC continue to evolve, a bilateral headache meeting the current criteria warrants a therapeutic trial of indomethacin.
Imerci, Ahmet; Incesu, Mustafa; Bozoglan, Muhammet; Canbek, Umut; Ursavas, Hüseyin Tamer
The majority of plantar heel pain is diagnosed as plantar fasciitis or heel spur syndrome. When history or physical findings are unusual or when routine treatment proves ineffective, one should consider an atypical cause of heel pain. Stress fractures of the calcaneus are a frequently unrecognized source of heel pain. In a normal populatıon, the possibility of calcaneal stress fractures must be borne in mind with patients who have bilateral heel pain. When a stress fracture is considered, clinicans have different imaging options. First of all, x-rays must be used to evaluate for any visible osseous pathology. If plain films are inconclusive, the clinician can proceed with a bone scan or Magnetic Resonance Imaging. In the literature, calcaneal stress fractures are mostly reported in soldiers or athletes, but our case is one of a 44-year-old housewife with bilateral heel pain treated as Achilles tendinitis and plantar faciitis for a long time. Her final diagnosis was bilateral calcaneal fracture by Magnetic Resonance Imaging.
An experience with 216 bilateral hernias in female patients is reviewed. The condition is rare, occurring only once in every 250 patients admitted for a hernia repair. Bilateral primary indirect inguinal hernias were the most frequent type. Bilateral primary femoral hernias were quite rare while bilateral primary direct inguinal hernias were even more uncommon. Other rare bilateral combinations are briefly described. The incidence in children is given. Etiological factors are discussed, emphasizing the strong posterior wall of the inguinal canal in females. Two per cent of patients developed a recurrent hernia; one per cent of hernias recurred. No recurrence following a bilateral primary indirect inguinal hernia repair and no “femoral” recurrence following inguinal repair were recorded. PMID:5348491
Puchalski, Jonathan T.; Argento, A. Christine; Murphy, Terrence E.; Araujo, Katy L.B.; Oliva, Isabel B.; Rubinowitz, Ami N.; Pisani, Margaret A.
Summary Background To evaluate the safety, etiology and outcomes of patients undergoing bilateral thoracentesis. Methods This is a prospective cohort study of 100 consecutive patients who underwent bilateral thoracenteses in an academic medical center from July 2009 through November 2010. Pleural fluid characteristics and etiologies of the effusions were assessed. Mean differences in levels of fluid characteristics between right and left lungs were tested. Associations between fluid characteristics and occurrence of bilateral malignant effusions were evaluated. The rate of pneumothorax and other complications subsequent to bilateral thoracentesis was determined. Results Exudates were more common than transudates, and most effusions had multiple etiologies, with 83% having two or more etiologies. Bilateral malignant effusions occurred in 19 patients, were the most common single etiology of exudative effusions, and were associated with higher levels of protein and LDH in the pleural fluid. Among 200 thoracenteses performed with a bilateral procedure, seven resulted in pneumothoraces, three of which required chest tube drainage and four were ex vacuo. Conclusions More often than not, there are multiple etiologies that contribute to pleural fluid formation, and of the combinations of etiologies observed congestive heart failure was the most frequent contributor. Exudative effusions are more common than transudates when bilateral effusions are present. Malignancy is a common etiology of exudative effusions. This study suggests that the overall complication rate following bilateral thoracentesis is low and the rate of pneumothorax subsequent to bilateral thoracentesis is comparable to unilateral thoracentesis. PMID:23219348
Kronenberg, Jona; Migirov, Lela; Taitelbaum-Swead, Rikey; Hildesheimer, Minka
Cochlear implant surgery became the standard of care in hearing rehabilitation of patients with severe to profound sensorineural hearing loss. This procedure may alter the lives of children and adults enabling them to integrate with the hearing population. In the past, implantation was performed only in one ear, despite the fact that binaural hearing is superior to unilateral, especially in noisy conditions. Cochlear implantation may be performed sequentially or simultaneously. The "sensitive period" of time between hearing loss and implantation and between the two implantations, when performed sequentially, significantly influences the results. Shorter time spans between implantations improve the hearing results after implantation. Hearing success after implantation is highly dependent on the rehabilitation process which includes mapping, implant adjustments and hearing training. Bilateral cochlear implantation in children is recommended as the proposed procedure in spite of the additional financial burden.
Alfonso, E.; Arrellanes, L.; Boruchoff, S. A.; Ormerod, L. D.; Albert, D. M.
A 52-year-old Mexican man presented with asymptomatic, bilaterally symmetrical lipid infiltrates of the cornea and adjacent limbus. No evidence of previous ocular disease or systemic disorder of lipid metabolism could be detected. Penetrating keratoplasty of the right eye was required. The cornea was rigid and thick, with posterior bulging into the anterior chamber. Light microscopy revealed deep corneal lipid granules, foamy histiocytes, vascularisation, and chronic non-granulomatous inflammation. Transmission electron microscopy showed extracellular lipid spaces and numerous intracytoplasmic lipid vacuoles in histiocytes, keratocytes, conjunctival epithelium, and the endothelium of blood vessels in the corneal stroma and adjacent limbal conjunctiva. Histochemical analysis revealed the presence of neutral fats, free fatty acids, cholesterol, and phospholipids. Images PMID:3395592
Edison, Michele N; O'Dell, M Cody; Letter, Haley P; Scherer, Kurt; Williams, Jennifer L
An 8-year-old girl presented with bilateral breast masses and was subsequently diagnosed with juvenile myelomonocytic leukemia. Juvenile myelomonocytic leukemia is a rare myelodysplastic syndrome that typically presents in boys younger than 3 years of age with splenomegaly, lymphadenopathy and skin findings. Bilateral breast masses in a child are rare and, as such, present a diagnostic dilemma due to the relative paucity of cases in the literature. We present a case of granulocytic sarcoma of the breasts in a patient with juvenile myelomonocytic leukemia. The authors hope that increased reporting and research regarding pediatric breast masses will help create awareness for such cases.
Jinnur, Praveen; Lim, Kaiser G
Ipilimumab is a monoclonal antibody used in the treatment of unresectable or metastatic melanoma. Several immune-related adverse events including potential fatal events have been reported following its use. We report a case of a 66-year-old man who presented with severe acute exertional dyspnea and orthopnea following administration of ipilimumab for metastatic melanoma. Although various peripheral neuropathy syndromes associated with ipilimumab have been reported, bilateral phrenic nerve paralysis has not been previously reported. This case also highlights the clinical features of bilateral phrenic nerve neuropathy. Pulmonologists have to be aware of these unusual immune-related respiratory adverse events in patients being treated with monoclonal antibodies.
Peterson, N E
Published examples of unilateral and bilateral renal artery thrombosis attest to their usual subjection to nephrectomy at diagnosis or soon thereafter, eliminating the opportunity for spontaneous improvement which would enlighten the issue of how often late recovery may occur, and under what circumstances. Seven cases of renal artery thrombosis and five patients with renal artery embolization extracted from the literature have included documentation of patchy histologic viability within otherwise total infarction. Conversely, 47 reports of renal artery thrombosis culminating in nephrectomy or examined post mortem include no reference to any of these histologic features. Presumptions are speculative regarding whether these features were absent, overlooked, or unexamined. Their incidence cannot be estimated--only the possibility of recoverable renal function in an unknown number of involved patients. It may be presumed that the majority of kidneys exposed to sustained arterial interruption will undergo irreversible infarction, with an undefined small subgroup later developing renal hypertension. An unknown number, however, may fortuitously possess arterial collateralization competent to support sufficient numbers of viable nephrons to sustain adequate renal function. It is further speculated that shared pathophysiologic features establish the opportunity for misdiagnosis of renal cortical necrosis, which carries a documented potential for spontaneous recovery. Impulsive bilateral nephrectomy may therefore be unjustified, particularly in consideration of the minimal potential hazards of nonremoval. In the event of convalescent problems of renal origin, delayed nephrectomy remains an option. The requirement for interval hemodialysis is further influenced by the advantages accruing from retention of the native kidneys relative to calcium metabolism and blood product replacement. A final consideration relates to the advisability of secondary revascularization of
Yoneoka, Yuichiro; Takeda, Norio; Inoue, Akira; Ibuchi, Yasuo; Kumagai, Takashi; Sugai, Tsutomu; Takeda, Ken-ichiro; Ueda, Kaoru
There are limited case reports of structural lesions causing Korsakoff syndrome. This report describes acute Korsakoff syndrome following localized, bilateral infarction of the mammillothalamic tracts (MTTs). Axial T2-weighted imaging revealed the lesions at the lateral wall level of the third ventricle and diffusion-weighted imaging confirmed that the left lesion was new and the right old. Korsakoff syndrome persisted 6 months after the onset. This case suggests that bilateral MTT dysfunction can lead to Korsakoff syndrome.
Srivastava, G N; Prasad, Rajniti; Meena, Manoj; Hussain, Moosa
We present a case of acute silicosis with bilateral pneumothorax of a 28-year-old man working at a stone crusher factory for 1 year. He presented to the emergency department with cough, respiratory distress and diffuse chest pain. The patient was managed with bilateral intercostal tube drainage under water seal, oxygen inhalation and conservative therapy. On follow-up he showed improvement of resting dyspnoea and was doing well. This case is being reported because of the rare complications of acute silicosis as bilateral pneumothorax.
Meisheri, I V; Waigankar, V S; Patel, M P; Naregal, A; Ramesh, S; Muthal, P
Sirenomelia, or mermaid syndrome, is the extreme form of caudal regression syndrome. We present another case of this fascinating anomaly with fused lower limbs, absent external genitalia, and absent genitourinary system. The patient could not be salvaged because of bilateral renal agenesis. Detailed autopsy findings and a review of the literature are presented.
Singh, A; Kate, M P; Nair, M D; Kesavadas, C; Kapilamoorthy, T R
Foix-Chavany-Marie opercular syndrome is a severe form of pseudobulbar palsy occurring due to bilateral anterior opercular lesions. We report a case of a 51-year-old man with sudden onset of inability to speak and dysphagia, and a history of synovial sarcoma of the right hand. Detailed language evaluation was normal. The patient had right upper motor neuron facial paresis and absent gag reflex bilaterally. Magnetic resonance (MR) imaging revealed acute and subacute infarcts involving the bilateral insular cortex. Two-dimensional echocardiography and cardiac MR imaging showed a mobile mass in the left atrium attached to the interatrial septum, which was likely a myxoma. Chest radiograph and computed tomography imaging of the chest revealed multiple cannonball shadows that were suggestive of secondaries in the lung. The probable cause of the cerebral lesions was the mass lesion in the heart or metastatic lesions from the synovial sarcoma. The cardiac surgeon and surgical oncologist recommended palliative care.
Jaroudi, Mahmoud; Fadi, Maalouf; Farah, Fadi; El Mollayess, Georges M.
To report a case of bilateral acute angle closure glaucoma (AACG) that occurred after cervical spine surgery with the use of glycopyrolate. A 59-year-old male who presented with severe bilateral bifrontal headache and eye pain that started 12 h postextubation from a cervical spine surgery. Neostigmine 0.05 mg/kg (4.5 mg) and glycopyrrolate 0.01 mg/kg (0.9 mg) were used as muscle relaxant reversals at the end of the surgery. Ophthalmic examination revealed he had bilateral AACG with plateau iris syndrome that was treated medically along with laser iridotomies. Thorough examination of anterior chamber should be performed preoperatively on all patients undergoing surgeries in the prone position and receiving mydriatic agents under general anesthesia. PMID:23741140
Lodish, Maya; Patronas, Nicholas J; Stratakis, Constantine A
We report a 6-year-old girl with ACTH-independent Cushing syndrome secondary to bilateral adrenal hyperplasia; she presented with hypertension and seizures, and magnetic resonance imaging shows changes consistent with posterior reversible encephalopathy syndrome.
Yilmaz, Murat; Kavak, Ayse; Yamaner, Nalan Jale
Tinea corporis has rarely been reported in some locations such as on the breast skin as unilaterally. Herein, we present a case of bilateral tinea mammae, which has not been reported before in English language literature to our knowledge.
Özdemir, Güzelali; Andıç, Kemal; Erdem Yaşar, Niyazi
In this case, we present a patient with the diagnosis of bilateral olecranon tophaceous gout. After the surgical treatment, there was no limitation of range of motion or wound problem at 6th month control. PMID:28326103
Bar, Amir; Urbine, Jacqueline; Bahora, Yasmine; Berkenstock, Meghan; Vodzak, Jennifer; Guruprasad, Hamalatha; Sinha, Manisha; Abed, Thair; Legido, Agustín
A twelve-year-old African-American female presented with two week history of progressively worsening headache and fatigue, and vision difficulties for the past week. The physical examination was normal. The neurological evaluation was normal, except for cranial nerves (CN) testing, which showed bilateral restriction of adduction (CN III) and up gaze (CN IV) motions, vertical nystagmus, and left side facial paresis of central origin (CN VII). The bilateral exotropia and ophthalmoplegia are characteristics of WEBINO (Wall-Eyed Bilateral Intranuclear Ophthalmoplegia) syndrome, associated to a brain stem structural lesion. The following causes were evaluated and ruled out: tumor, infection, ischemic stroke, non-infectious inflammation. Pediatric Acquired Demyelinating Syndromes were then considered. Neuromyelitis Optica was ruled out in the absence of neuritis and normal spinal cord MRI. The differential diagnosis between Clinically Isolated Syndrome and Acute Demyelinating Encephalomyelitis, causing an isolated brain stem syndrome, is discussed. Copyright © 2014 Elsevier Inc. All rights reserved.
Chithra, R; Sundar, R Ajai; Velladuraichi, B; Sritharan, N; Amalorpavanathan, J; Vidyasagaran, T
Aneurysms are rare in children. Isolated iliac artery aneurysms are very rare, especially bilateral aneurysms. Pediatric aneurysms are usually secondary to connective tissue disorders, arteritis, or mycotic causes. We present a case of a 3-year-old child with bilateral idiopathic common iliac aneurysms that were successfully repaired with autogenous vein grafts. Copyright © 2013 Society for Vascular Surgery. Published by Mosby, Inc. All rights reserved.
Eapen, Rose J; Buchman, Craig A
The goal of this review is to examine the most recent literature exploring the indications, outcomes, and long-term benefit of bilateral cochlear implantation in children and adults. The indications for cochlear implantation have expanded, as many unilaterally implanted individuals are able to achieve open-set word recognition. Despite the benefits seen in unilateral implantation, many individuals have difficulty perceiving speech in noisy environments. Bilateral cochlear implantation has made great strides in providing individuals access to sound information from both ears, allowing improved speech perception in quiet and in noise, as well as sound localization. Recently, the House Cochlear Implant study group released a position statement in which the group strongly endorsed bilateral cochlear implantation. Improved speech perception in quiet has also been demonstrated by many groups with bilateral implantation. Improved sound localization abilities have been shown to be dependent on interaural level differences. The binaural benefits of head shadow and summation have been long shown in bilaterally implanted individuals. Recently, a growth in squelch has been seen in these individuals likely as a result of increased experience with both implants. This may indicate neural integration of the inputs over time. The literature supports the binaural benefit of bilateral cochlear implantation with demonstrated improved speech perception outcomes in quiet and in noise, sound localization data, and subjective benefits.
Parkash, Vivak; Mudhar, Hardeep Singh; Wagner, Bart E.; Raoult, Didier; Batty, Ruth; Lepidi, Hubert; Burke, John; Collini, Paul; de Silva, Thushan
Purpose To describe the clinical features of a Caucasian female patient with a history of treated gastrointestinal Whipple's disease (WD) who developed new-onset diplopia, with a description of the histopathological features of the extraocular muscle biopsies. Methods A previously fit 38-year-old Caucasian female presented with acute-onset diplopia after being on a sustained medication regime for biopsy-proven gastrointestinal WD. A magnetic resonance imaging scan of her orbits with gadolinium revealed diffuse enhancement of the bellies of the extraocular muscles bilaterally, particularly the medial rectus, superior rectus, and superior oblique muscles, consistent with an infiltrative myositis. She underwent unilateral extraocular muscle biopsies. Results The extraocular muscle biopsies contained macrophages between the muscle fibres. These contained periodic acid-Schiff-positive cytoplasmic granules. Immunohistochemistry with an antibody raised to Tropheryma whipplei showed positive staining of the same macrophages. Transmission electron microscopy confirmed the presence of effete T. whipplei cell membranes in lysosomes. Conclusion This case describes bilateral WD-associated extraocular muscle myositis. The exact mechanism for this unusual presentation is unclear, but both a WD-associated immune reconstitution inflammatory syndrome and treatment failure are possibilities, with a good response observed to antibiotic therapy and adjunctive corticosteroids.
Ali, A A; Ahmed, T; Rashid, M M
A 20 year old man was admitted in the surgical unit of Dhaka Medical College Hospital on August 2007 presented with Hypospadias & underdeveloped penis from childhood, gradual enlargement of both breasts for the last 10 years, absence of axillary and pubic hair from puberty & painful swelling of both testes for the last 3 years. The patient was regarded as a female upto the age of 10 years. He has got no voice change since puberty. On examination he had average body built, there was bilateral gynaecomastia, hypospadias, rudimentary penis & absence of pubic and axillary hair. His testosterone level, serum prolactin level, serum progesterone level, serum estradiol level was done. Cytology on buccal smear done and ultrasonography revealed no ovary and uterus. Ultimately patient was diagnosed as a case of androgen insensitivity syndrome (AIS). The case is reported for clinical awareness & to share our experience.
Sozzo, S; Carratù, P; Damiani, M F; Falcone, V A; Palumbo, A; Dragonieri, S; Resta, O
A 57-year-old woman underwent an enucleoresection of her right kidney angiomyolipoma. Two weeks later she was admitted to our hospital because of dyspnea at rest with orthopnea. The chest x-ray showed the elevation of both hemidiaphragms and the measurement of the sniff transdiaphragmatic pressure confirmed the diagnosis of bilateral diaphragmatic paralysis. A diaphragm paralysis can be ascribed to several causes, i.e. trauma, compressive events, inflammations, neuropathies, or it can be idiopathic. In this case, it was very likely that the patient suffered from post-surgery neuralgic amyotrophy. To our knowledge, there are only a few reported cases of neuralgic amyotrophy, also known as Parsonage-Turner Syndrome, which affects only the phrenic nerve as a consequence of a surgery in an anatomically distant site.
Louiset, Estelle; Duparc, Céline; Young, Jacques; Renouf, Sylvie; Tetsi Nomigni, Milène; Boutelet, Isabelle; Libé, Rossella; Bram, Zakariae; Groussin, Lionel; Caron, Philippe; Tabarin, Antoine; Grunenberger, Fabienne; Christin-Maitre, Sophie; Bertagna, Xavier; Kuhn, Jean-Marc; Anouar, Youssef; Bertherat, Jérôme; Lefebvre, Hervé
Bilateral macronodular adrenal hyperplasia is a rare cause of primary adrenal Cushing's syndrome. In this form of hyperplasia, hypersecretion of cortisol suppresses the release of corticotropin by pituitary corticotrophs, which results in low plasma corticotropin levels. Thus, the disease has been termed corticotropin-independent macronodular adrenal hyperplasia. We examined the abnormal production of corticotropin in these hyperplastic adrenal glands. We obtained specimens of hyperplastic macronodular adrenal tissue from 30 patients with primary adrenal disease. The corticotropin precursor proopiomelanocortin and corticotropin expression were assessed by means of a polymerase-chain-reaction assay and immunohistochemical analysis. The production of corticotropin and cortisol was assessed in 11 specimens with the use of incubated explants and cell cultures coupled with hormone assays. Corticotropin levels were measured in adrenal and peripheral venous blood samples from 2 patients. The expression of proopiomelanocortin messenger RNA (mRNA) was detected in all samples of hyperplastic adrenal tissue. Corticotropin was detected in steroidogenic cells arranged in clusters that were disseminated throughout the adrenal specimens. Adrenal corticotropin levels were higher in adrenal venous blood samples than in peripheral venous samples, a finding that was consistent with local production of the peptide within the hyperplastic adrenals. The release of adrenal corticotropin was stimulated by ligands of aberrant membrane receptors but not by corticotropin-releasing hormone or dexamethasone. A semiquantitative score for corticotropin immunostaining in the samples correlated with basal plasma cortisol levels. Corticotropin-receptor antagonists significantly inhibited in vitro cortisol secretion. Cortisol secretion by the adrenals in patients with macronodular hyperplasia and Cushing's syndrome appears to be regulated by corticotropin, which is produced by a subpopulation of
Fujimoto, Kaori; Hiraoka, Miki; Inatomi, Shuichiro; Ohguro, Hiroshi
Two female patients with histories of cancer who showed cryptogenic organizing pneumonia (COP) complications and bilateral anterior uveitis with hypopyon were examined. Both patients had suffered from COP and received intermitted systemic corticosteroid administration (SCA). The first patient, a 65-year-old woman with a history of breast cancer, showed bilateral uveitis with hypopyon. The topical corticosteroid treatment was ineffective. After SCA for the treatment of COP was started, the hypopyon gradually dissipated. Upon termination of SCA, uveitis relapses were controlled by renewed SCA. The other patient, a 69-year-old woman with a history of ovarian cancer, showed bilateral anterior uveitis with hypopyon. Her intraocular outcome did not improve by the topical corticosteroid administration, but SCA that was applied to treat COP led to remission of uveitis. Imaging examinations, biochemical analysis, symptoms or HLA-B27 antigen screenings in either patient did not explain the development of uveitis. Bilateral anterior uveitis is commonly related to autoimmune disease or systemic syndrome. We report two cases with COP that developed bilateral anterior uveitis with hypopyon resistant to topical administration but responsive to systemic administration of corticosteroid. These findings suggest that COP can be associated with the etiology of anterior uveitis.
Fujimoto, Kaori; Hiraoka, Miki; Inatomi, Shuichiro; Ohguro, Hiroshi
Two female patients with histories of cancer who showed cryptogenic organizing pneumonia (COP) complications and bilateral anterior uveitis with hypopyon were examined. Both patients had suffered from COP and received intermitted systemic corticosteroid administration (SCA). The first patient, a 65-year-old woman with a history of breast cancer, showed bilateral uveitis with hypopyon. The topical corticosteroid treatment was ineffective. After SCA for the treatment of COP was started, the hypopyon gradually dissipated. Upon termination of SCA, uveitis relapses were controlled by renewed SCA. The other patient, a 69-year-old woman with a history of ovarian cancer, showed bilateral anterior uveitis with hypopyon. Her intraocular outcome did not improve by the topical corticosteroid administration, but SCA that was applied to treat COP led to remission of uveitis. Imaging examinations, biochemical analysis, symptoms or HLA-B27 antigen screenings in either patient did not explain the development of uveitis. Bilateral anterior uveitis is commonly related to autoimmune disease or systemic syndrome. We report two cases with COP that developed bilateral anterior uveitis with hypopyon resistant to topical administration but responsive to systemic administration of corticosteroid. These findings suggest that COP can be associated with the etiology of anterior uveitis. PMID:25520652
Bandgar, Tushar; Khare, Shruti; Jadhav, Swati; Lila, Anurag; Goroshi, Manjunath; Kasaliwal, Rajeev; Khadilkar, Kranti; Shah, Nalini S
Background Bilateral adrenal masses may have aetiologies like hyperplasia and infiltrative lesions, besides tumours. Hyperplastic and infiltrative lesions may have coexisting hypocortisolism. Bilateral tumours are likely to have hereditary/syndromic associations. The data on clinical profile of bilateral adrenal masses are limited. Aims To analyse clinical, biochemical and radiological features, and management outcomes in patients with bilateral adrenal masses. Methods Retrospective analysis of 70 patients with bilateral adrenal masses presenting to a single tertiary care endocrine centre from western India (2002–2015). Results The most common aetiology was pheochromocytoma (40%), followed by tuberculosis (27.1%), primary adrenal lymphoma (PAL) (10%), metastases (5.7%), non-functioning adenomas (4.3%), primary bilateral macronodular adrenal hyperplasia (4.3%), and others (8.6%). Age at presentation was less in patients with pheochromocytoma (33 years) and tuberculosis (41 years) compared with PAL (48 years) and metastases (61 years) (P<0.001). The presenting symptoms for pheochromocytoma were hyperadrenergic spells (54%) and abdominal pain (29%), whereas tuberculosis presented with adrenal insufficiency (AI) (95%). The presenting symptoms for PAL were AI (57%) and abdominal pain (43%), whereas all cases of metastasis had abdominal pain. Mean size of adrenal masses was the largest in lymphoma (5.5cm) followed by pheochromocytoma (4.8cm), metastasis (4cm) and tuberculosis (2.1cm) (P<0.001). Biochemically, most patients with pheochromocytoma (92.8%) had catecholamine excess. Hypocortisolism was common in tuberculosis (100%) and PAL (71.4%) and absent with metastases (P<0.001). Conclusion In evaluation of bilateral adrenal masses, age at presentation, presenting symptoms, lesion size, and biochemical features are helpful in delineating varied underlying aetiologies. PMID:27037294
Salgado, G; Cantín, M; Inzunza, O; Muñoz, A; Saez, J; Macuer, M
We report a case of bilateral reversed palmaris longus muscle (PLM). The muscle was tendinous in its upper portion and muscular in its lower portion in both arms. This rare variation has been mentioned only once in the literature as a surgical finding. According to the literature, a reversed PLM may cause a compartment syndrome in the wrist area, carpal tunnel, and Guyon's syndrome. The described variation is also useful to the hand surgeon as a tendon graft, a tendon for transfer, or as an anatomical landmark for operations at this area.
Eskander, Bishoy S; Shehata, Bahig M
Fraser syndrome is an autosomal recessive disorder characterized by cryptophthalmos and cutaneous syndactyly. We present a case of Fraser syndrome with bilateral cryptophthalmos and other common features of Fraser syndrome including syndactyly (hands and feet bilaterally), ambiguous genitalia with clitoromegaly, vaginal atresia, and unilateral renal agenesis. We also present the major and minor diagnostic criteria for Fraser syndrome and the frequency of associated malformations.
... 38 Pensions, Bonuses, and Veterans' Relief 1 2011-07-01 2011-07-01 false Bilateral factor. 4.26... DISABILITIES General Policy in Rating § 4.26 Bilateral factor. When a partial disability results from disease... disability. The bilateral factor will be applied to such bilateral disabilities before other combinations are...
... 38 Pensions, Bonuses, and Veterans' Relief 1 2010-07-01 2010-07-01 false Bilateral factor. 4.26... DISABILITIES General Policy in Rating § 4.26 Bilateral factor. When a partial disability results from disease... disability. The bilateral factor will be applied to such bilateral disabilities before other combinations are...
Ching, Teresa Y C; Massie, Robyn; Van Wanrooy, Emma; Rushbrooke, Emma; Psarros, Colleen
This paper summarises findings from studies that evaluated the benefits of bimodal fitting (combining a hearing aid and a cochlear implant in opposite ears) or bilateral cochlear implantation, relative to unilateral implantation, for children (Ching et al., 2007). On average, the size of binaural speech intelligibility advantages due to redundancy and head shadow was similar for the two bilateral conditions. An added advantage of bimodal fitting was that the low-frequency cues provided by acoustic hearing complemented the high-frequency cues conveyed by electric hearing in perception of voice and music. Some children with bilateral cochlear implants were able to use spatial separation between speech and noise to improve speech perception in noise. This is possibly a combined effect of the directional microphones in their implant systems and their ability to use spatial cues. The evidence to date supports the provision of hearing in two ears as the standard of care.
Moretti, Biagio; Notarnicola, Angela; Moretti, Lorenzo; Garofalo, Raffaele; Patella, Vittorio
Bilateral rupture of the patellar tendon is a very rare injury. It occurs in association with chronic systemic diseases or corticosteroid medications. We report a case of a 13-year-old child with Ehlers-Danlos syndrome presenting a bilateral patellar tendon disruption of proximal insertion that occurred with a trivial trauma. Surgical management consisting in tendon repair with a suture anchor technique protected temporarily with a cerclage wiring gives a good outcome.
Moura, Diogo Lino; Marques, José Pedro; Lucas, Francisco Manuel; Fonseca, Fernando Pereira
Bilateral patellar tendon rupture is a rare entity, often associated with systemic diseases and patellar tendinopathy. The authors report a rare case of a 34-year-old man with simultaneous bilateral rupture of the patellar tendon caused by minor trauma. The patient is a retired basketball player with no past complaints of chronic knee pain and a history of steroid use. Surgical management consisted in primary end-to-end tendon repair protected temporarily with cerclage wiring, followed by a short immobilization period and intensive rehabilitation program. Five months after surgery, the patient was able to fully participate in sport activities.
Yalcinkaya, C; Sarioglu, A; Boltshauser, E
We report a personal series of 28 patients with neurofibromatosis 2 (NF-2), emphasizing the differences from classical NF-1. The hallmark of NF-2 is bilateral acoustic neuromas with initial symptoms usually occurring in the second or third decade. The natural history may lead to bilateral deafness, but hearing loss may also be a complication of surgery. NF-2 is frequently accompanied by additional intracranial tumors (particularly multiple meningiomas). Half of our patients had a spinal space-occupying lesion. NF-2 is inherited as an autosomal dominant trait, and many patients appear to represent new mutations.
Rangel, Carlos M.; Parra, M. Margarita; Frederick, Gabriel; Tello, Alejandro; Varón, Clara L.
Objective: To report a case of bilateral anterior uveitis secondary to oral moxifloxacin. Methods: Case report. Results: A 54-year-old female presented bilateral anterior uveitis following a 10-day course of oral moxifloxacin. She developed a bilateral anterior uveitis associated with pigment dispersion syndrome and iris transillumination. Conclusions: Drug-induced uveitis is one of the causes of anterior uveitis. Uveitis related to fluoroquinolones is a rare entity, there are few cases reported in the literature, this is the first case reported in Latin America. PMID:28706771
Rangel, Carlos M; Parra, M Margarita; Frederick, Gabriel; Tello, Alejandro; Varón, Clara L
Objective: To report a case of bilateral anterior uveitis secondary to oral moxifloxacin. Methods: Case report. Results: A 54-year-old female presented bilateral anterior uveitis following a 10-day course of oral moxifloxacin. She developed a bilateral anterior uveitis associated with pigment dispersion syndrome and iris transillumination. Conclusions: Drug-induced uveitis is one of the causes of anterior uveitis. Uveitis related to fluoroquinolones is a rare entity, there are few cases reported in the literature, this is the first case reported in Latin America.
McCombe Waller, Sandy; Whitall, Jill
Bilateral arm training has emerged as an approach that leads to positive outcomes in addressing upper extremity paresis after stroke. However, studies have not demonstrated improvements in all patients using current outcome measures. Furthermore, the rationale for using this type of training has been incompletely explained. The purpose of this article was to first review the theoretical justifications for the use of bilateral arm training by examining motor control and neural mechanisms underlying arm function and neural recovery, and second, to discuss examples of clinical studies using a variety of bilateral training strategies to identify who may benefit most from this approach. We argue that bilateral arm training is a necessary adjunct to unilateral training because bilateral re-training is important and best served through bilateral not unilateral training, and also, that bilateral training may help unilateral skill recovery through alternative putative mechanisms. Our review of the empirical evidence suggests that individuals at all levels of severity can benefit in some manner from bilateral training, but that not all approaches are effective for all severity levels. In addition to requesting more randomized controlled trials and studies of neurophysiological mechanisms we conclude the following: 1) Bilateral training can improve unilateral paretic limb functions of the upper extremity after stroke, however, specific training approaches need to be matched to baseline characteristics of the patients; 2) Given the importance of bilateral activities in daily life, there is a need to recognize, train and assess the important contribution of supportive role functions of the paretic arm used on its own and as part of complementary bilateral functional skills; 3) An assessment of bilateral and unilateral functioning which includes bilateral task analysis, as well as, evaluations of interlimb coordination should be included in all studies that include bilateral
Waller, Sandy McCombe; Whitall, Jill
Bilateral arm training has emerged as an approach that leads to positive outcomes in addressing upper extremity paresis after stroke. However, studies have not demonstrated improvements in all patients using current outcome measures. Furthermore, the rationale for using this type of training has been incompletely explained. The purpose of this article was to first review the theoretical justifications for the use of bilateral arm training by examining motor control and neural mechanisms underlying arm function and neural recovery, and second, to discuss examples of clinical studies using a variety of bilateral training strategies to identify who may benefit most from this approach. We argue that bilateral arm training is a necessary adjunct to unilateral training because bilateral re-training is important and best served through bilateral not unilateral training, and also, that bilateral training may help unilateral skill recovery through alternative putative mechanisms. Our review of the empirical evidence suggests that individuals at all levels of severity can benefit in some manner from bilateral training, but that not all approaches are effective for all severity levels. In addition to requesting more randomized controlled trials and studies of neurophysiological mechanisms we conclude the following: 1) Bilateral training can improve unilateral paretic limb functions of the upper extremity after stroke, however, specific training approaches need to be matched to baseline characteristics of the patients; 2) Given the importance of bilateral activities in daily life, there is a need to recognize, train and assess the important contribution of supportive role functions of the paretic arm used on its own and as part of complementary bilateral functional skills; 3) An assessment of bilateral and unilateral functioning which includes bilateral task analysis, as well as, evaluations of interlimb coordination should be included in all studies that include bilateral
Korukluoglu, Birol; Ergul, Emre; Sisman, Ibrahim Cagatay; Yalcin, Samet; Kusdemir, Ahmet
Liposarcomas represent the single most common type of soft tissue sarcoma, occurring most commonly in the extremities and retroperitoneum. There is no relation between liposarcomas and multiple endocrine syndromes. We presented a 61-year old woman with giant primary synchronously bilateral mesenteric dedifferentiated liposarcoma with hyperparathyroidism, hyperthyroidism, Type-2 diabetes mellitus (T2DM) and hypertension. The mesenteric liposarcoma was reported neither synchronously bilateral nor with endocrine disorders. We must note if the patients' presentation was a co-incidence or an undescribed syndrome, waiting to be discovered.
Pugliese, Raffaele; Boniardi, Marco; de Carli, Stefano; Sansonna, Fabio; Costanzi, Andrea; Maggioni, Dario; Ferrari, Giovanni C; Di Lernia, Stefano; Loli, Paola; Grossrubatscher, Erika
This study was undertaken to evaluate the outcomes of the simultaneous bilateral laparoscopic adrenalectomy. This was a retrospective study, including 11 patients with bilateral adrenal lesions, affected by Cushing's syndrome (n=2), Cushing's disease (n=6), pheochromocytoma (n=2), and 1 adrenocorticotrophin-hormone-dependent hypercortisolism of unknown origin. Elevan bilateral adrenalectomies were carried out by the laparoscopic approach with no conversions. The operations were performed in 7 cases by the lateral transperitoneal adrenalectomy (LTLA), in 3 by the posterior approach (PRA), and in 1 by the combined approach. The mean size of the masses was 5 cm. (range, 4-13). The average operating time was 245 minutes for LTLA and 218 minutes for PRA (P<0.05). The estimated mean blood loss was 87+/-36 mL (range, 20-150). No patients required transfusions. The mean hospital stay was 5+/-1.8 days (range, 4-7). The mean follow-up was 34 months (range, 2-96). Our study confirms that the bilateral adrenalectomy by the minimally invasive technique is safe and effective, affording acceptable blood loss and morbidity with a short hospital stay.
Correia-Sá, Inês; Horta, Ricardo; Neto, Tiago; Amarante, José; Marques, Marisa
Lehman syndrome, or lateral meningocele syndrome, is characterized by facial dysmorphism, multiple lateral meningoceles, and skeletal abnormalities. Only nine cases have been described. We present a case of a 2-year-old boy presenting with micrognathia, glossoptosis, and hypertelorism as well as associated severe obstructive sleep apnea. He was submitted to bilateral mandibular distraction with external nonresorbable devices to correct Pierre Robin sequence (PRS). Later, multiple lateral meningoceles were identified, and a diagnosis of Lehman syndrome was made. Lehman syndrome must be considered in syndromic infants with PRS. Distraction osteogenesis is a safe procedure that is effective as a first choice in the treatment of patients with Lehman syndrome presenting with micrognathia.
Ogundunmade, Babatunde Gbolahan; Jasper, Unyime Sunday
Bilateral facial nerve palsy is a relatively rare presentation and often points to a serious underlying medical condition. Several studies have reported presentation of bilateral facial nerve palsy in association with Lyme disease, Guillain-Barre syndrome, systemic lupus erythematosus, human immunodeficiency virus, sarcoidosis, diabetes and Hanson disease. While unilateral facial nerve palsy is sometimes associated with hemiplegia in sickle cell patients, no case of bilateral facial nerve palsy have been reported in the literature. A 29-year-old black African woman who is a known homozygous haemoglobin S (HbSS) presented with bilateral facial nerve palsy. She had the said condition 2 months post delivery of her first child and reported for physiotherapy 3 months post incidence. The pre-treatment House Brackmann Facial Grading Scale (HBFGS) Scores were 3 for right side and 4 for left side. This patient was not on any medication for the facial palsy. After 4 sessions of combination therapy consisting of faradism, facial exercises and massage there was remarkable improvement in the neurological status of the facial muscles. The post treatment House Brackmann Facial Grading Scale score was 2 bilaterally. Bilateral facial nerve palsy may be an initial presentation of sickle cell anemia patients in the absence of other overt clinical presentations. Therefore sickle cell anemia should be considered among others, in the differential diagnosis of bilateral facial nerve palsy. Furthermore, this case report has highlighted the important role of physiotherapy in the management of bilateral facial nerve palsy.
Caplash, Yugesh; Giri, Pratyush; Kearney, Daniel; Wagstaff, Marcus
Summary: We present a patient with bilateral breast implant rupture who developed severe locoregional silicone granulomatous lymphadenopathy. Poly Implant Prothese silicone implants had been used for bilateral breast augmentation 5 years prior. Extracapsular implant rupture and bilateral axillary lymphadenopathy indicated explantation, capsulectomy, and selective lymph node excision. Histology demonstrated silicone lymphadenopathy with no evidence of malignancy. Over the subsequent 12 months, she developed progressive locoregional lymphadenopathy involving bilateral cervical, axillary, and internal mammary groups, resulting in bilateral thoracic outlet syndrome. We report the unusual presentation, progression, and the ultimate surgical management of this patient. PMID:25878942
Di Dona, Francesco; Murino, Carla; Della Valle, Giovanni; Fatone, Gerardo
A three-year-old cat was referred to the Veterinary Teaching Hospital, University of Naples, Italy. The cat had severe pelvic limb deformity, and abnormal development of all four paws. Radiographs revealed bilateral tibial agenesis, syndactyly, and digital hypoplasia. No treatment was instituted because of the severity of the injury, the adaptation of the cat to the abnormal condition, and the owner's refusal to permit any treatment. Congenital limb deformities are rarely reported in the cat and tibial agenesis is considered a very rare disease. This congenital anomaly is well documented and classified in man, and it has been associated with other abnormalities in more complex syndromes. This paper reports clinical and radiographic findings in a cat affected by bilateral complete tibial agenesis associated with other congenital anomalies.
Ozcan, Emel; Ural, Ahmet; Oktemer, Tuğba Koçak; Alpaslan, Gökhan
Although tonsilloliths are reported to be fairly common, florid cases casting distinct radiopaque shadows on panoramic radiographs are not often reported. This report illustrates such a case as an incidental finding in an asymptomatic 38-year-old female dental patient. Panoramic radiography revealed distinct radiopaque shadows over the ascending rami of the mandible bilaterally. These radiopacities were localized to the palatine tonsils by computerized tomographic inspection. Tonsillectomy was performed and tonsillolithiasis was confirmed by histopathologic examination.
Saleem, Adnan Aslam; Siddiqui, Sorath Noorani
Fraser's Syndrome (FS) is a rare autosomal recessive disorder with a spectrum of malformations. The most consistent features are Cryptophthalmos (CO), syndactyly, genitourinary tract abnormalities, laryngeal and tracheal anomalies, craniofacial dysmorphism, malformations of the ear and nose, orofacial clefting and musculoskeletal defects. FS is genetically heterogeneous; so far mutations in FRAS1, FREM2 and GRIP1 genes have been linked to FS. FS can be diagnosed on clinical examination, pre-natal ultrasound or perinatal autopsy. We present a case of a 3 months old child born to consanguineous healthy parents with bilateral complete CO, unilateral microphthalmia, hypertelorism, syndactyly (hands and feet bilaterally), ambiguous genitalia with cryptorchidism and an umbilical hernia. We also present the criteria for diagnosing FS and the significant features on pre-natal ultrasonography. Around 200 case reports of patients with FS and CO have been published. To our knowledge, this is the first reported case of FS in Pakistan.
Moretti, Biagio; Speciale, Domenico; Garofalo, Raffaele; Moretti, Lorenzo; Patella, Silvio; Patella, Vittorio
Bilateral patellae fractures represent a rare entity, accounting for approximately 2.9% of all lesions interesting in this anatomical district. In most cases found in the published work, they are described as stress fractures or as complications of chronic diseases such as osteoporosis, renal failure and secondary hyperparathyroidism. Although many pathogenetic mechanisms have been supposed, none have been proved for certain. Insufficiency fractures of the patellae are rare events and no data has been published on their incidence. We present a case of bilateral fracture of the patellae due to an indirect trauma occurring in an 85-year-old patient affected by Parkinson's disease, osteoporosis and diffuse degenerative osteoarthritis. X-ray of the knees (anteroposterior and lateral) and magnetic resonance imaging evaluation confirmed the fractures. The patient was treated conservatively. She had a good result, returning to her previous autonomous ambulation. This case is unusual because there was no direct trauma to the knees because of bilaterality, but confirmed previous observations about insufficiency fractures of patellae in the presence of comorbidity. Insufficiency fractures of patellae can be an insidious condition in elderly people. Prepatellar pain, a common symptom in the relapse phase of degenerative arthritis of the knee, should not be underestimated, particularly in patients with diseases influencing metabolism of bone and with an elevated risk of fall. A periodical clinical and instrumental follow up should be done in these patient. Moreover, we underline the necessity of a multidisciplinary approach.
Philipp, Ute; Lupp, Bettina; Mömke, Stefanie; Stein, Veronika; Tipold, Andrea; Eule, Johanna Corinna; Rehage, Jürgen; Distl, Ottmar
A dominantly inherited syndrome associated with hypopigmentation, heterochromia irides, colobomatous eyes and bilateral hearing loss has been ascertained in Fleckvieh cattle (German White Fleckvieh syndrome). This syndrome has been mapped to bovine chromosome (BTA) 22 using a genome-wide association study with the bovine high density single nucleotide polymorphism array. An R210I missense mutation has been identified within microphthalmia-associated transcription factor (MITF) as responsible for this syndrome. The mutation is located in the highly conserved basic region of the protein and causes a negative-dominant effect. SOX10 and PAX3 promoter binding site mutations in MITF could be ruled out as causative for the German White Fleckvieh syndrome. Molecular characterization of this newly detected bovine syndrome means a large animal model is now available for the Tietz syndrome in humans. PMID:22174915
Green, Jennifer B; Skaife, Tyler L; Leslie, Bruce M
To determine the incidence of bilateral distal biceps tendon ruptures. A retrospective review of 321 patients who underwent operative repair of a distal biceps tendon rupture between 1988 and 2010 identified 26 patients with bilateral ruptures. We recorded patient age, mechanism of injury, time between symptom onset before the first surgery and subsequent contralateral symptoms, and time between surgeries. Twenty-two bilateral ruptures were confirmed intra-operatively, 3 by MRI, and 1 was lost to follow up. A total of 23 bilateral ruptures (92%) occurred in men. The average age at the initial rupture was 44 years (range, 29-74 y). The average age at subsequent rupture was 48 years (range, 36-79 y). Excluding the 2 women (age 72 and 79 y), the average age at the initial rupture was 42 years and the average age at subsequent rupture was 46 years. The average interval between ruptures was 4.1 years (range, 0.8-13.9 y). The initial rupture occurred in the dominant extremity in 12 cases (50%) and in the nondominant extremity in 10 cases (42%); in 3 patients (8%) the dominance was not documented or ambidextrous. Thirty-three percent were heavy laborers, 3 patients had a smoking history, and 1 patient reported a history of steroid use. Twenty-two patients (88%) had the second side repaired, where we noted that 12 (55%) of the second tendon ruptures were partial tears. The 8% cumulative incidence of bilateral biceps tendon ruptures in a consecutive series of biceps tendon repairs may be higher because not all patients were contacted, which introduced a sampling bias. This 8% rate is markedly higher than the reported rate of 1.2 per 100,000 for an isolated distal biceps tendon rupture. This implies that patients with a distal biceps tendon rupture are at risk for a rupture on the contralateral side. Prognostic III. Copyright © 2012 American Society for Surgery of the Hand. Published by Elsevier Inc. All rights reserved.
Kulkarni, K. P.; Panigrahi, I.; Ray, M.; Marwaha, R. K.
A 5-month-old male infant presented with weak cry, decreased body movements, tightness of whole body since birth, and one episode of generalized seizure on day 4 of life. He was born at term by elective caesarian section performed for breech presentation. The child had failure to thrive, contractures at elbow and knee joints, hypertonia, microcephaly, small mouth, retrognathia, and camptodactyly. There was global developmental delay. Abdominal examination revealed umbilical and bilateral inguinal hernia. Visual evoked response and brainstem evoked response audiometry were abnormal. Nerve conduction velocity was normal. Magnetic resonance imaging of brain revealed paucity of white matter in bilateral cerebral hemispheres with cerebellar and brain stem atrophy. The differential diagnoses considered in the index patient were distal arthrogryposis (DA) syndrome, cerebroculofacioskeletal syndrome, and Pena Shokier syndrome. The index patient most likely represents a variant of DA: Sheldon Hall syndrome. PMID:20300297
Midro, A; Hubert, E; Preferansow, J; Iwaszkiewicz-Pawłowska, A
A case of TAR syndrome with bilateral cleft lip and palate is presented. Bilateral symmetric focomelia, normal thumbs among five fingers of hands, synostosis of IVth and Vth metacarpal bones and some defects of lower limbs with associated thrombocytopenia were noted. Dysmorphic facial features included hypertelorism, epicanthus, blue sclerae, broad nasal root, micrognathia, low-set ears, sparse blond hair. To our knowledge this patient represents an unusual association of TAR syndrome with orofacial clefting. A common background of TAR and Roberts/SC syndrome is suggested.
Grande, M.; Lisi, G.; Bianchi, D.; Bove, P.; Miano, R.; Esser, A.; De Sanctis, F.; Neri, A.; Grande, S.; Villa, M.
Acute renal failure due to bilateral ureteral obstruction is a rare complication after appendectomy in children. We report a case of bilateral ureteric obstruction in a 14-year-old boy nine days after surgery for an acute appendicitis. After saline-filling of the urinary bladder, transabdominal ultrasound demonstrated bilateral hydronephrosis of moderate degree. No abscess was found with CT but presence of millimetric stones on both distal ureters was shown, with bilateral calyceal dilatation. Cystoscopy revealed inflammatory changes in the bladder base. Following introduction of bilateral ureteric stents, there was rapid normalisation of urinary output and serum creatinine. PMID:26295001
Seki, Yusuke; Kandori, Akihiko; Ogata, Kuniomi; Miyashita, Tsuyoshi; Kumagai, Yukio; Ohnuma, Mitsuru; Konaka, Kuni; Naritomi, Hiroaki
Magnetoencephalography (MEG) noninvasively measures neuronal activity with high temporal resolution. The aim of this study was to develop a new type of MEG system that can measure bilateral MEG waveforms without a magnetically shielded room, which is an obstacle to reducing both the cost and size of an MEG system. An unshielded bilateral MEG system was developed using four two-dimensional (2D) gradiometers and two symmetric cryostats. The 2D gradiometer, which is based on a low-T(c) superconducting quantum interference device and wire-wound pickup coil detects a magnetic-field gradient in two orthogonal directions, or ∂/∂x(∂(2)B(z)/∂z(2)), and reduces environmental magnetic-field noise by more than 50 dB. The cryostats can be symmetrically positioned in three directions: vertical, horizontal, and rotational. This makes it possible to detect bilateral neuronal activity in the cerebral cortex simultaneously. Bilateral auditory-evoked fields (AEF) of 18 elderly subjects were measured in an unshielded hospital environment using the MEG system. As a result, both the ipsilateral and the contralateral AEF component N100m, which is the magnetic counterpart of electric N100 in electroencephalography and appears about 100 ms after the onset of an auditory stimulus, were successfully detected for all the subjects. Moreover, the ipsilateral P50m and the contralateral P50m were also detected for 12 (67%) and 16 (89%) subjects, respectively. Experimental results demonstrate that the unshielded bilateral MEG system can detect MEG waveforms, which are associated with brain dysfunction such as epilepsy, Alzheimer's disease, and Down syndrome.
Seki, Yusuke; Kandori, Akihiko; Ogata, Kuniomi; Miyashita, Tsuyoshi; Kumagai, Yukio; Ohnuma, Mitsuru; Konaka, Kuni; Naritomi, Hiroaki
Magnetoencephalography (MEG) noninvasively measures neuronal activity with high temporal resolution. The aim of this study was to develop a new type of MEG system that can measure bilateral MEG waveforms without a magnetically shielded room, which is an obstacle to reducing both the cost and size of an MEG system. An unshielded bilateral MEG system was developed using four two-dimensional (2D) gradiometers and two symmetric cryostats. The 2D gradiometer, which is based on a low-Tc superconducting quantum interference device and wire-wound pickup coil detects a magnetic-field gradient in two orthogonal directions, or ∂/∂x(∂2Bz/∂z2), and reduces environmental magnetic-field noise by more than 50 dB. The cryostats can be symmetrically positioned in three directions: vertical, horizontal, and rotational. This makes it possible to detect bilateral neuronal activity in the cerebral cortex simultaneously. Bilateral auditory-evoked fields (AEF) of 18 elderly subjects were measured in an unshielded hospital environment using the MEG system. As a result, both the ipsilateral and the contralateral AEF component N100m, which is the magnetic counterpart of electric N100 in electroencephalography and appears about 100 ms after the onset of an auditory stimulus, were successfully detected for all the subjects. Moreover, the ipsilateral P50m and the contralateral P50m were also detected for 12 (67%) and 16 (89%) subjects, respectively. Experimental results demonstrate that the unshielded bilateral MEG system can detect MEG waveforms, which are associated with brain dysfunction such as epilepsy, Alzheimer's disease, and Down syndrome.
Dalapicola, Monique Coelho; Veasey, John Verrinder; Lellis, Rute Facchini
Ross syndrome is a rare disease characterized by peripheral nervous system dysautonomia with selective degeneration of cholinergic fibers. It is composed by the triad of unilateral or bilateral segmental anhidrosis, deep hyporeflexia and Holmes-Adie's tonic pupil. The presence of compensatory sweating is frequent, usually the symptom that most afflicts patients. The aspects of the syndrome are put to discussion due to the case of a male patient, caucasian, 47 years old, with clinical onset of 25 years. PMID:26982793
Ricciardi, M; De Simone, A; Gernone, F; Giannuzzi, P
An 11-year-old intact female Doberman Pinscher was presented with the complaint of non-ambulatory tetraparesis. Clinical and neurological examination revealed a caudal cervical spinal cord disfunction (C6-T2 spinal cord segments). Magnetic resonance imaging and computed tomographic (CT) findings of the cervical spine were consistent with caudal cervical spondylomyelopathy (CSM). During the diagnostic work-up for the cervical spine, bilateral bone anomalies involving the seventh cervical vertebra and the first ribs were found on radiographs and CT examination. The rib anomalies found in this dog appear similar to cervical ribs widely described in human medicine. In people, cervical ribs are associated with a high rate of stillbirth, early childhood cancer, and can cause the thoracic outlet syndrome, characterized by neurovascular compression at level of superior aperture of the chest. In dogs, only some sporadic anatomopathological descriptions of cervical ribs exist. In this report the radiographic and CT findings of these particular vertebral and rib anomalies along with their relationships with adjacent vasculature and musculature are shown intravitam in a dog. Specific radiographic and CT findings described in this report may help in reaching a presumptive diagnosis of this anomaly. Finally, their clinical and evolutionary significance are discussed.
Rajappa, Geetha Chamanhalli; Anandaswamy, Tejesh Channasandra
Pheochromocytoma is a catecholamine-secreting tumor, which is seen rarely in children. These tumors predominantly secrete norepinephrine and epinephrine. They might be familial and associated with hereditary tumors such as Von Hippel-Lindau syndrome and multiple endocrine neoplasia type II. The child might present with a spectrum of clinical manifestation including hypertension, headache, visual disturbances, and behavioral problems. A meticulous preoperative preparation is essential for a stable intraoperative and postoperative outcome. We described successful perioperative management of a child who underwent bilateral laparoscopic cortical sparing adrenalectomy and a repeated surgery for the residual tumor removal.
Govindaraj, Santhiya; Viswanathan, Stalin
We report pneumomediastinum, bilateral pneumothorax and acute respiratory distress syndrome in a victim of near drowning who was intoxicated and did not have thoracic or neck trauma. Chest radiograph revealed the above findings, later confirmed by computed tomography. He was in shock and also had gastrointestinal (GI) bleeding and renal dysfunction. With adequate resuscitative measures including fluids, blood transfusions, intercostal tube drainage and mechanical ventilation he made a complete recovery. Good prognostic indicators in near drowning patients include higher Glasgow Coma Scale, short submersion time and quick resuscitative measures even in the presence of serious cardiorespiratory or hemodynamic compromise. PMID:24765331
van Eijndhoven, P; Mulders, P; Kwekkeboom, L; van Oostrom, I; van Beek, M; Janzing, J; Schene, A; Tendolkar, I
Electroconvulsive therapy (ECT) is the most effective treatment for patients suffering from severe or treatment-resistant major depressive disorder (MDD). Unfortunately its underlying neurobiological mechanisms are still unclear. One line of evidence indicates that the seizures produced by ECT induce or stimulate neuroplasticity effects. Although these seizures also affect the cortex, the effect of ECT on cortical thickness is not investigated until now. We acquired structural magnetic resonance imaging data in 19 treatment-resistant MDD patients before and after a bilateral ECT course, and 16 healthy controls at 2 time points, and compared changes in cortical thickness between the groups. Our results reveal that ECT induces significant, bilateral increases in cortical thickness, including the temporal pole, inferior and middle temporal cortex and the insula. The pattern of increased cortical thickness was predominant in regions that are associated with seizure onset in ECT. Post hoc analyses showed that the increase in thickness of the insular cortex was larger in responders than in non-responders, which may point to a specific relationship of this region with treatment effects of ECT. PMID:27552587
Singh, Arun Kumar; Nandini, R.
Bilateral cleft lip nose deformity is a multi-factorial and complex deformity which tends to aggravate with growth of the child, if not attended surgically. The goals of primary bilateral cleft lip nose surgery are, closure of the nasal floor and sill, lengthening of the columella, repositioning of the alar base, achieving nasal tip projection, repositioning of the lower lateral cartilages, and reorienting the nares from horizontal to oblique position. The multiplicity of procedures in the literature for correction of this deformity alludes to the fact that no single procedure is entirely effective. The timing for surgical intervention and its extent varies considerably. Early surgery on cartilage may adversely affect growth and development; at the same time, allowing the cartilage to grow in an abnormal position and contributing to aggravation of deformity. Some surgeons advocate correction of deformity at an early age. However, others like the cartilages to grow and mature before going in for surgery. With peer pressure also becoming an important consideration during the teens, the current trend is towards early intervention. There is no unanimity in the extent of nasal dissection to be done at the time of primary lip repair. While many perform limited nasal dissection for the fear of growth retardation, others opt for full cartilage correction at the time of primary surgery itself. The value of naso-alveolar moulding (NAM) too is not universally accepted and has now more opponents than proponents. Also most centres in the developing world have neither the personnel nor the facilities for the same. The secondary cleft nasal deformity is variable and is affected by the extent of the original abnormality, any prior surgeries performed and alteration due to nasal growth. This article reviews the currently popular methods for correction of nasal deformity associated with bilateral cleft lip, it's management both at the time of cleft lip repair and also secondarily
Popp, Andrew Damian; Kulenovic, Indira; Kulenovic, Elvedin
A 45 year old male presented to a primary care physician with complaints of long term, bilateral knee and bilateral foot pain, without history of significant trauma. Physical exam demonstrated full range of motion without any erythema or edema. Fingernails were abnormal and hypoplastic. Bilateral knee radiographs demonstrated moderate degenerative changes of the right knee. Small, atrophic patellae were noted to be proximal to their expected location. Two months later the patient returned to his primary care physician for worsening of the knee pain related to cooler outside temperatures. An NSAID had initially relieved the pain but was becoming less and less efficacious. Alternative medications were prescribed to better control the pain. Complaints of continued knee pain and now bilateral hip pain brought him back to his physician four months later. He requested a referral to an orthopedic surgeon and an MR of the right knee was obtained. The finding showed complex tear of the lateral meniscus in patient with Nail Patella Syndrome.
Poornima, P; Katkade, Shashikant; Mohamed, Roshan Noor; Mallikarjuna, Rachappa
A 12-year-old patient presented with a severe delay of eruption in permanent maxillary and mandibular incisors. On examination, there was over-retained primary teeth and delayed eruption of permanent teeth. Retained primary teeth showed light yellow discolouration whereas permanent teeth were distinct yellow with thin or little enamel. Subsequent imaging revealed all the premolars except maxillary left first premolar showed signs of intra-alveolar coronal resorption, nephrocalcinosis with bilateral multiple calculi and small papillary tip calcifications, marked increase in alkaline phosphatase. Subsequent dental treatment for restoring the functional and aesthetic requirement followed by appropriate treatment for renal problem was undertaken.
Soares, A B; de Araújo, J J; de Sousa, S M; Veronezi, M C
Talon cusp is an uncommon condition often present in the maxillary incisors and mandibular premolars. Morphologically, this anomaly has a well-delineated cusp that extends at least half the distance from the cementoenamel junction or cingulum area to the incisal edge. The alteration can cause clinical problems such as caries or occlusal interference. Management of the talon cusp varies according to the circumstances of the individual case and should be as conservative as possible. Presented is a case of bilateral bifid talon cusp in maxillary central incisors that was successfully managed with conservative therapy.
Cheung, Linnea; Henderson, Arthur Harry; Banfield, Graham; Carswell, Andrew
Isolated submandibular swellings pose a diagnostic challenge to the practising otolaryngologist. We report an unusual case of mumps isolated to bilateral submandibular glands. We discuss the case and the literature surrounding this condition and remind clinicians that mumps should be considered as a diagnosis in the presence of submandibular gland swelling in the absence of typical parotid swelling associated with mumps. Early consideration of this differential diagnosis, serological testing and a multidisciplinary approach may help to clinch the diagnosis earlier and prevent spread of the virus. © BMJ Publishing Group Ltd (unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.
Basrur, Gurudutt Bhaskar
Inguinal hernias are rare in females. The authors report a case of bilateral inguinal hernias in a 10-year-old female. On exploration, the patient was found to be having a sliding hernia containing incarcerated ovary as contents on both sides. Peroperatively the contents were reduced, the sac was transfixed at its base and the redundant sac was excised. The repair of this form of hernias is more difficult because of adhesions between the contents and the wall of the sac and risk of damage during dissection. A description of this clinical presentation in the pre operative assessment and operative management are discussed in this report. PMID:25918632
Marasinghe, Jeevan P; Condous, George; Amarasinghe, W I
A 28-year-old woman presented at eight weeks and four days of gestation, according to her menstrual dates, complaining of painless vaginal bleeding for three days. Her urinary pregnancy test was positive. Initial transvaginal ultrasound demonstrated an irregular complex structure with a fluid filled centre in the right adnexum. Despite the diagnosis of a possible underlying unruptured right tubal ectopic pregnancy, she declined surgical intervention and was managed expectantly as an inpatient. When she complained of increasing abdominal pain with haemodynamic instability, an emergency laparotomy was performed and a diagnosis of bilateral tubal ectopic pregnancy was made.
Moore, Christopher L.
Telemanipulator system includes master robot manipulated by human operator, and slave robot performing tasks at remote location. Two robots electronically coupled so slave robot moves in response to commands from master robot. Teleoperation greatly enhanced if forces acting on slave robot fed back to operator, giving operator feeling he or she manipulates remote environment directly. Main advantage of bilateral impedance control: enables arbitrary specification of desired performance characteristics for telemanipulator system. Relationship between force and position modulated at both ends of system to suit requirements of task.
Syndrome of transient headache and neurological deficits with cerebrospinal fluid lymphocytosis (HaNDL) in a patient with confusional symptoms, diffuse EEG abnormalities, and bilateral vasospasm in transcranial Doppler ultrasound: A case report and literature review.
Hidalgo de la Cruz, M; Domínguez Rubio, R; Luque Buzo, E; Díaz Otero, F; Vázquez Alén, P; Orcajo Rincón, J; Prieto Montalvo, J; Contreras Chicote, A; Grandas Pérez, F
HaNDL syndrome (transient headache and neurological deficits with cerebrospinal fluid lymphocytosis) is characterised by one or more episodes of headache and transient neurological deficits associated with cerebrospinal fluid lymphocytosis. To date, few cases of HaNDL manifesting with confusional symptoms have been described. Likewise, very few patients with HaNDL and confusional symptoms have been evaluated with transcranial Doppler ultrasound (TCD). TCD data from patients with focal involvement reveal changes consistent with vasomotor alterations. We present the case of a 42-year-old man who experienced headache and confusional symptoms and displayed pleocytosis, diffuse slow activity on EEG, increased blood flow velocity in both middle cerebral arteries on TCD, and single-photon emission computed tomography (SPECT) findings suggestive of diffuse involvement, especially in the left hemisphere. To our knowledge, this is the first description of a patient with HaNDL, confusional symptoms, diffuse slow activity on EEG, and increased blood flow velocity in TCD. Our findings suggest a relationship between cerebral vasomotor changes and the pathophysiology of HaNDL. TCD may be a useful tool for early diagnosis of HaNDL. Copyright © 2017 Sociedad Española de Neurología. Publicado por Elsevier España, S.L.U. All rights reserved.
Abrahamsen, Bjørg J; Kulseth, Mari Ann; Paus, Benedicte
A 19-year-old sportsman experienced a right-sided pneumothorax and hemoptysis after having had an intermittent cough and blood-tinged sputum for 2 months. A chest CT scan revealed small cavitary lesions in both lungs. The relapsing pneumothorax was treated with a chest tube twice, as well as surgically after the second relapse. Two months after surgery, the patient developed a cough, fever, and high C-reactive protein levels. At that time, large consolidations had developed in the right lung, while the left lung subsequently collapsed due to pneumothorax. The patient's physical appearance and anamnestic information led us to suspect a genetic connective tissue disease. A sequencing analysis of the COL3A1 gene identified a novel, de novo missense mutation that confirmed the diagnosis of vascular Ehlers-Danlos syndrome (EDS). This atypical presentation of vascular EDS with intrathoracic complications shows that enhanced awareness is required and demonstrates the usefulness of the genetic analyses that are clinically available for several hereditary connective tissue disorders.
Jerome, J Terrence Jose; Varghese, M; Sankaran, B
Congenital patellar syndrome is bilateral isolated absence of patella. Congenital patellar aplasia or hypoplasia associated with genetic disorders belongs to a clinically diverse and genetically heterogeneous group of lower limb malformations. Absence of patella as an isolated anomaly is extremely rare and we discuss such a case in a 9-year-old boy.
Park, Moon Sung; Yoo, Jae Eon; Chung, Jaiho; Yoon, Soo Han
Pfeiffer Syndrome is as rare as Apert syndrome in the Western population. This condition is very rare in the Asian population and has not been previously reported in Korea. The authors report with a review of literature the case of a newborn baby with Pfeiffer syndrome, manifested by bicoronal craniosynostosis, broad thumbs, and big toes. The infant also had bilateral syndactyly of the fingers and toes, mild proptosis, choanal hypoplasia and maxillary hypoplasia.
Al-Mazrou, Khalid A; Al-Ghonaim, Yazeed A; Al-Fayez, Abdulrhman I
Mobius syndrome is a rare condition of unclear origin, characterized by a unilateral or bilateral congenital facial weakness with impairment of ocular abduction, which is frequently associated with limb anomalies . Poland described a condition in which there was unilateral absence of pectoralis major muscle and ipsilateral syndactyly. The combination of Poland-Mobius syndrome is rare, with an estimated prevalence 1:500 000. We describe a case of Poland-Mobius syndrome in association with congenital bilateral vocal fold immobility. To our knowldge, this is the first report of such an association between Poland-Mobius syndrome and congenital bilateral vocal fold immobility.
Gómez-Martínez, R; Leal, C A; Rivera-Luna, R; Cárdenas, R S; Martínez, A B; Medina, A
Retinoblastoma (RB) is the most frequent solid tumor in the Instituto Nacional de Pediatría, México (INP). The bilateral presentation occurs in 25% of all patients. We present some epidemiological data of this form of the disease, in learn these epidemiological variables in our series. We reviewed the clinical charts from 1972 to 1994. We analyzed age, sex, timing of presentation of the second affected eye, positive family history, clinical staging, and the development of secondary malignancies. A total of 105 cases were detected from 412 RB total cases (25%). We observed a male predominance 1.6:1.0 p = 0.04 versus females. The clinical staging showed: retinal stage 9/102, ocular stage 58/102, orbital stage 26/102 and non classified 9/102 p < 0.00001. The asynchronous form is a rare presentation in our experience: 16/105 cases p = 0.00001 (15%). Only 16/105 patients had a positive family history of RB (15%). We found 2 of 105 cases with secondary malignancies (0.01%). The asynchronous form constitutes a rare presentation. We cannot explain the etiology for the high prevalence of bilateral disease. The frequency of secondary malignancies is lower than that reported in the literature.
1. Small animals (rat and guinea pig) vagotomized in the neck die within a period of hours, the lungs showing extensive congestion and edema. 2. Tracheotomy permits appreciably longer survival with minimal lung changes approximating those seen in the control animals. 3. Intrathoracic vagotomy (sparing the recurrent laryngeal nerve) on one side, and cervical vagotomy on the other, permits almost indefinite survival (guinea pig and rabbit), unless laryngeal paralysis from the unilateral denervation produces respiratory obstruction (rat, guinea pig, and rabbit). 4. Pulmonary edema following bilateral vagotomy probably results primarily from respiratory obstruction. It is suggested that circulatory failure may also be a factor of some importance. The rôle of vagotomy itself is considered in relationship to these two phenomena. 5. The reaction of smaller animals to bilateral vagotomy, with regard to lung changes, apparently differs in no way from that of the larger animals, but is less readily demonstrated because of the smaller diameters of the air passages. PMID:19870894
Kumar, Piyush; Jha, Abhijeet Kumar; Mallik, Sambeet Kumar; Raihan, Mohammed
A 35-year-old man presented with asymptomatic eruption on both forearms and lower aspects of the legs for 6 months. The lesions first appeared on his inner aspects of the wrist, the dorsal surface of the hands, and legs and progressed to involve proximal aspects of the extremities. There was no significant past history. On examination, multiple pearly white papules and depigmented atrophic plaques were found bilaterally on the flexors of the arms and the extensors of the legs. The lesions were arranged in a linear manner, following the lines of Blaschko (Figures 1 and 2). The surface of the atrophic plaques was notable for prominent telangiectasia, giving an erythematous appearance. The genitalia, oral cavity, palms, and soles were spared. Systemic examination was noncontributory. Lichen striatus and extragenital lichen sclerosus (ELS) were considered the differential diagnosis. Clinically, the age of the patient, the absence of scaling, and the presence of atrophic plaques and telangiectasia were in favor of ELS. A punch biopsy from an atrophic plaque was performed, and it revealed hyperkeratosis, atrophic epidermis, basal layer vacuolar degeneration, mild lymphocytic infiltration in the dermis, edema, and homogenization of collagen of the upper portion of the dermis (Figures 3 and Figure 4). Histopathologic findings were consistent with lichen sclerosus. A diagnosis of bilateral zosteriform ELS was made.
The effectiveness of the left internal mammary artery graft to the anterior descending coronary artery as a surgical strategy has been shown to improve the survival rate and decrease the risk of adverse cardiac events in patients undergoing coronary bypass surgery. These clinical benefits appear to be related to the superior short and long-term patency rates of the internal thoracic artery graft. Although the advantages of using of both internal thoracic arteries (ITA) for bypass grafting have taken longer to prove, recent results from multiple data sets now support these findings. The major advantage of bilateral ITA grafting appears to be improved survival rate, while the disadvantages of complex ITA grafting include the increased complexity of operation, and an increased risk of wound complications. While these short-term disadvantages have been mitigated in contemporary surgical practice, they have not eliminated. Bilateral ITA grafting should be considered the procedure of choice for patients undergoing coronary bypass surgery that have a predicted survival rate of longer than ten years. PMID:23977627
Balocco, Simone; Gatta, Carlo; Pujol, Oriol; Mauri, Josepa; Radeva, Petia
Speckle noise negatively affects medical ultrasound image shape interpretation and boundary detection. Speckle removal filters are widely used to selectively remove speckle noise without destroying important image features to enhance object boundaries. In this article, a fully automatic bilateral filter tailored to ultrasound images is proposed. The edge preservation property is obtained by embedding noise statistics in the filter framework. Consequently, the filter is able to tackle the multiplicative behavior modulating the smoothing strength with respect to local statistics. The in silico experiments clearly showed that the speckle reducing bilateral filter (SRBF) has superior performances to most of the state of the art filtering methods. The filter is tested on 50 in vivo US images and its influence on a segmentation task is quantified. The results using SRBF filtered data sets show a superior performance to using oriented anisotropic diffusion filtered images. This improvement is due to the adaptive support of SRBF and the embedded noise statistics, yielding a more homogeneous smoothing. SRBF results in a fully automatic, fast and flexible algorithm potentially suitable in wide ranges of speckle noise sizes, for different medical applications (IVUS, B-mode, 3-D matrix array US).
Malhotra, Hardeep Singh; Garg, Ravindra Kumar; Goel, Madhu Mati; Jain, Amita; Gupta, Arvind; Lalla, Rakesh; Singh, Gyan Prakash
Leprosy is an important cause of cranial nerve palsy in endemic areas where it may be seen in upto 17.6% patients. The authors herein describe a rare case of bilaterally symmetrical facial synkinesis with video documentation and modified blink reflex. A 35-year-old gentleman presented with numbness involving right half of his face for 8 months and abnormal stretching sensations over both sides of his nose for one and a half months. Sensory and motor involvement of the right trigeminal nerve was detected along with bilaterally symmetrical facial synkinesis involving orbicularis oculi and nasalis. R(1) and R(2) responses consistent with mis-reinnervation were recorded on the left-side using orbicularis oculi and nasalis muscles. Skin biopsy revealed acid-fast bacilli and sural nerve biopsy, the presence of granulomas. After 3 months of follow-up on WHO multi-drug therapy, an improvement in facial sensations was observed but without any change in facial synkinetic movements.
Gross, Christopher E; Parekh, Bela J; Adams, Samuel B; Parekh, Selene G
Chronic exertional compartment syndrome (CECS) represents the second most-common cause of exertional leg pain with incidence of 27-33%. CECS of the superficial posterior compartment, or soleus syndrome, is rare and has only been discussed briefly in the literature. We discuss the management of two patients with bilateral soleus syndrome or CECS of the superficial posterior compartment.
Huber, J F; Grob, D
A report of the unusual perioperative complication of bilateral cortical blindness after lumbar spine surgery. The hypothetical causes that can lead to this syndrome in spine surgery and the precautions are discussed. The circumstances surrounding the occurrence of perioperative cortical blindness, the explanation of possible mechanisms, and the patients at risk are evaluated. There have been no similar reports. Case report with description of the syndrome of cortical blindness, the diagnostic tools, and the different pathophysiologic causes. The severe impairment of visual capacities remained unchanged; some color discrimination and the differentiation between dark and daylight were possible. In obese patients (body mass index > 30) puncture of the subclavian vein and rotating and positioning of the patient in one step should be performed carefully.
Naves, Kattia Cristina; Santos, João Paulo Vieira dos; Santana, José Henrique; Lopes, Gesner Pereira
A white, 48-year-old woman, natural from Uberaba-MG, presented herself to hospital. She had a picture of rest dyspnea, fever, productive cough, greenish catarrh and ventilatory-dependent thoracic pain, for 3 days. During investigation, through radiogram and thoracic tomography, it was visualized the presence of dextrocardia and consolidation in low right lobe by bronchopneumonic process. It was opted for hospitalization and antibiotic therapy. Investigation was carried on with tomography of mastoids and paranasal cavities which showed bilateral chronic otomastoiditis and images of chronic sinusopathy allowing the diagnosis of a case of Kartagener Syndrome. Our purpose in this case report is to include new informations for who search about this syndrome.
Skeik, Nedaa; Jabr, Fadi I
Kartagener syndrome is a rare, ciliopathic, autosomal recessive genetic disorder that causes a defect in the action of the cilia lining the respiratory tract and fallopian tube. Patients usually present with chronic recurrent rhinosinusitis, otitis media, pneumonia, and bronchiectasis caused by pseudomonal infection. Situs inversus can be seen in about 50% of cases. Diagnosis can be made by tests to prove impaired cilia function, biopsy, and genetic studies. Treatment is supportive. In severe cases, the prognosis can be fatal if bilateral lung transplantation is delayed. We present a case of a 66-year-old woman with chronic recurrent upper respiratory infections, pseudomonal pneumonia, and chronic bronchiectasis who presented with acute respiratory failure. She was diagnosed with Kartagener syndrome based on her clinical presentation and genetic studies. She expired on ventilator with refractory respiratory and multiorgan failure.
Liatsikos, E N; Perimenis, P; Dandinis, K; Kaladelfou, E; Barbalias, G A
We herein report a case of a female embryo who died in utero and at autopsy she was found to have bilateral renal agenesis with the extrarenal manifestations of Potter's syndrome together with mermaid syndrome which is a rare combination. From all the anomalies of the upper urinary tract bilateral renal agenesis seems to have a cardinal role in the survival of the embryo afflicted with the spectrum of associated anomalies.
Diaz, Gloria E; Wirrell, Elaine C; Matsumoto, Joseph Y; Krecke, Karl N
Bilateral striopallidodentate calcinosis is characterized by calcification of the basal ganglia and other gray matter structures. We describe a 16-year-old boy with paroxysmal kinesigenic dyskinesia. He exhibited mineralization in the basal ganglia, posterior thalami, and dentate nuclei bilaterally, and was diagnosed with sporadic bilateral striopallidodentate calcinosis. The paroxysmal kinesigenic dyskinesia responded to low-dose treatment with carbamazepine (200 mg/day).
Babu, Manohar K V; Lee, Peter; Mahadev, Arjandas; Lee, Eng Hin
Unilateral sternocleidomastoid muscle contracture causing torticollis and other secondary deformities such as facial scoliosis, plagiocephaly and scoliosis of cervical spine are well known. The aetiology and pathogenesis is still intriguing. Although unilateral contracture of sternocleidomastoid is seen quite often, bilateral sternocleidomastoid contracture is almost unheard of. A review of the English literature revealed no cases of bilateral congenital sternocleidomastoid contracture being reported. We present a case report of a 19-year-old girl with congenital bilateral sternocleidomastoid contracture.
Singh, Aminder; Kaur, Pavneet; Sood, Neena; Puri, Harpreet; Garg, Bhavna
We are reporting a case of bilateral eosinophilic mastitis which is rare and hardly heard. It is a mimicker of carcinoma breast both clinically & radiologically. A 30 years old non diabetic female presented with bilateral breast lumps with history of rhinitis off & on and peripheral eosinophilia. Mammography was suspicious while ultrasonography was diagnostic of bilateral mastitis. Aspiration cytology exhibited inflammatory lesion rich in eosinophils. Histopathology revealed the diagnosis of eosinophilic mastitis. Eosinophilic infiltration of the breast is a rare manifestation of tissue involvement in peripheral eosinophilia and bilateralism is even rarer.
Carmel, Eldar; Taitelbaum-Swead, Ricky; Migirov, Lela; Hildesheimer, Minka; Kronenberg, Jona
Cochlear implantation is a standard method of hearing rehabilitation among patients with severe to profound bilateral sensorineural hearing loss. In recent years there have been an increasing number of studies showing superior hearing with bilateral cochlear implantation in comparison with a unilateral procedure. In this study we present our experience with 15 patients, children and adults, who had bilateral cochlear implant surgery. Speech perception test results demonstrated a hearing benefit in bilateral cochlear implantation in comparison with a unilateral device, mainly by improvement in the identification of speech in noise tests.
Lee, Seung-Eun; Lee, You-Bin; Seok, Hyeri; Shin, In Seub; Eun, Yeong Hee; Kim, Jung-Han; Oh, Young Lyun
A 31-year-old woman was referred to our hospital with symptoms of hypertension and bilateral adrenocortical masses with no feature of Cushing syndrome. The serum aldosterone/renin ratio was elevated and the saline loading test showed no suppression of the plasma aldosterone level, consistent with a diagnosis of primary hyperaldosteronism. Overnight and low-dose dexamethasone suppression tests showed no suppression of serum cortisol, indicating a secondary diagnosis of subclinical Cushing syndrome. Adrenal vein sampling during the low-dose dexamethasone suppression test demonstrated excess secretion of cortisol from the left adrenal mass. A partial right adrenalectomy was performed, resulting in normalization of blood pressure, hypokalemia, and high aldosterone level, implying that the right adrenal mass was the main cause of the hyperaldosteronism. A total adrenalectomy for the left adrenal mass was later performed, resulting in a normalization of cortisol level. The final diagnosis was bilateral adrenocortical adenomas, which were secreting aldosterone and cortisol independently. This case is the first report of a concurrent cortisol-producing left adrenal adenoma and an aldosterone-producing right adrenal adenoma in Korea, as demonstrated by adrenal vein sampling and sequential removal of adrenal masses. PMID:26248855
Lancer, Hannah R.
According to the National Hip Fracture Database, over 64,000 patients were admitted with a hip fracture across England, Wales, and Northern Ireland in 2013, but very few are bilateral, and there are no current cases in the literature of bilateral neck of femur fractures in a patient with bilateral below-knee amputations. We present a case of a 69-year-old bilateral below-knee amputee male admitted to the emergency department with bilateral hip pain and radiological evidence of bilateral displaced neck of femur fractures. The patient subsequently underwent synchronous bilateral total hip replacements under general anaesthetic and an epidural and then went on to make a full recovery. He was discharged 27 days after arrival in hospital. Outpatient follow-up at 3 months has shown that the patient has returned to a similar level of preinjury function and is still able to carry out his daily activities with walking aids and bilateral leg prostheses. PMID:26881162
Zhao, Weiqian; Sheng, Zhong; Qiu, Lirong; Wang, Yun; Shao, Rongjun
This paper proposes a bilateral fitting subtracting confocal microscopy (BFSCM) based on the optical arrangement of conventional confocal microscopy (CM). BFSCM first uses the data in both sides of a confocal axial response curve, which are very sensitive to the axial position of the sample, for respective linear fitting to obtain two fitting straight lines, and then obtains a difference confocal line by subtraction of the two fitting lines. Finally, it calculates the zero position of the difference confocal line to precisely capture the focus position of the confocal system, and thereby achieving a high-precision measurement of the 3D structure of the sample. The theoretical analyses and experiments indicate that BFSCM can improve the axial resolution, and has anti-interference capability and focusing ability with bipolar absolute zero point tracking, while it does not change the structure and lateral resolution of CM. BFSCM provides a novel method for the improvement of CM axial resolution.
Huebner, Stephen; Ali, Sayed
Intravascular migration of bullets and other foreign bodies is a rare but known complication of penetrating trauma. Missile embolization can represent a diagnostic challenge because it may present in various and unexpected ways. We present the case of a 54-year-old female who sustained shotgun pellet emboli to the pulmonary arteries following a left upper extremity gunshot wound and related vascular surgery. The case illustrates bilateral embolization, and the embolic events occurred following surgery. Embolization should be considered in evaluating patients with gunshot wounds, particularly if there are anomalous symptoms or the projectile is not found in the original, or expected, location. Close attention to the location of the foreign bodies on serial radiographs may reveal the diagnosis of intravascular embolization. PMID:22690290
Queirós, João; Maia, Sofia; Seca, Mariana; Friande, António; Araújo, Maria; Meireles, Angelina
Background. Cogan's syndrome is a rare clinical entity whose etiopathology is still unknown, and the treatment strategies are not clearly defined. Case. A 23-year-old male presented with symptoms of headache, peripheral facial palsy, persistent right hearing loss and bilateral papillitis. Workup excluded all infectious, granulomatous, neoplastic, and immune causes. The diagnosis of atypical Cogan's syndrome was established, and the patient was treated with systemic corticosteroids and later on with cyclophosphamide and methotrexate. There were improvement of visual symptoms and stabilisation of left hearing. Conclusion. Cogan's syndrome is a very rare disease with no specific biological tests for the diagnosis. The diagnostic exams are mostly important to exclude other etiologies. The atypical ocular and audiovestibular manifestations make the diagnosis difficult, delaying the institution of appropriate therapy which may result in profound bilateral deafness. PMID:23691387
Gulbahar, Gultekin; Kaplan, Tevfik; Turker, Hasan Bozkurt; Gundogdu, Ahmet Gokhan; Han, Serdar
First rib fractures are scarce due to their well-protected anatomic locations. Bilateral first rib fractures accompanying bilateral scapular fractures are very rare, although they may be together with scapular and clavicular fractures. According to our knowledge, no case of bilateral first rib fractures accompanying bilateral scapular fractures has been reported, so we herein discussed the diagnosis, treatment, and complications of bone fractures due to thoracic trauma in bias of this rare entity. PMID:26175916
Sen, Volkan; Aydogdu, Ozgu; Yonguc, Tarık; Bozkurt, Ibrahim Halil; Polat, Salih; Basmaci, Ismail
Bilateral collecting system duplication is a very rare abnormality, including the splitting of the ureteric bud. Complete ureteral duplication with two separate openings in the urinary bladder is also extremely rare. To the best of our knowledge, we present the first case of bilateral ureteral stones in bilateral duplicated collecting system. PMID:26279727
Cho, Deog Gon; Lee, Seok In; Chang, Yong Jin; Cho, Kyu Do; Cho, Suk Kyu
Background Simultaneously developed bilateral primary spontaneous pneumothorax (BPSP) is an indication for thoracic surgery of both sides. Recently, we have reported a new technique for BPSP, which is ipsilateral apicoposterior transmediastinal (TM) bullectomy of both sides using video-assisted thoracoscopic surgery (VATS), and we compared this TM VATS with bilateral sequential (BS) VATS for BPSP. Materials and Methods From June 2003 to May 2014, 11 and 14 patients were performed VATS TM and BS bullectomy for BPSP, respectively. We reviewed the medical records and compared the clinical data between the two groups. For TM group, we first performed the right VATS bullectomy and approached through the apicoposterior mediastinal region for contralateral VATS. In the other group, conventional BS VATS bullectomy was performed in the lateral decubitus position change. Results The mean follow-up was 62.0 ± 32.6 months. No mortality and major complications were observed. The operative time (68.18 ± 24.93 vs. 96.07 ± 37.73, p = 0.046), duration of left pleural drainage (1.00 ± 0.45 vs. 3.21 ± 1.37, p = 0.000), and length of hospital stay (3.82 ± 1.54 vs. 4.93 ± 1.07, p = 0.044) were significantly shorter in the TM group than in the BS group. No significant differences were seen in duration of general anesthesia, total number of wedge resections and endostaplers used in both lungs, duration of right drainage, and postoperative recurrence. Conclusion The TM VATS approach may be a safe and feasible modality for BPSP. It may decrease the operative time, patients inconvenience such as bilateral multiple wounds and longstanding placement of chest tubes, and decrease the hospital stay compared with the BS VATS approach.
Dahan, Meryl; Lim, Chetana; Salloum, Chady; Azoulay, Daniel
Postoperative bilateral adrenal hemorrhage is a rare but potentially life-threatening complication. This diagnosis is often missed because the symptoms and laboratory results are usually nonspecific. We report a case of bilateral adrenal hemorrhage associated with acute primary adrenal insufficiency following laparoscopic cholecystectomy. The knowledge of this uncommon complication following any abdominal surgery allows timey diagnosis and rapid treatment.
Montiani-Ferreira, Fabiano; Lima, Leandro; Bacellar, Marianna; D'Otaviano Vilani, Ricardo G; Fedullo, José Daniel; Lange, Rogério R
A 14-year-old, female, captive-born orangutan (Pongo pygmaeus) developed bilateral cataracts. Ultrasonography, electroretinography and cataract correction using phacoemulsification were performed bilaterally. This case report aims to describe the ophthalmic procedures performed in this animal critically endangered of extinction. The surgery successfully restored vision and normal activity to the patient.
A 4-week-old male Pomeranian was presented with eyes that had remained closed since birth. Clinical examination of the orbits revealed that globes were bilaterally absent, suggesting clinical anophthalmos. Following ultrasound imaging of the orbits, a diagnosis of severe bilateral microphthalmos was made, a condition of rare occurrence with an etiology that is not fully understood.
Gadodia, A; Bhalla, A S; Sharma, R; Thakar, A; Parshad, R
Bilateral parotid swelling is not an uncommon occurrence and may pose a challenge for clinicians and radiologists. Numerous causes of bilateral parotid swellings have been identified. The purpose of this pictorial review is to display this wide array with a focus on multimodality approach. PMID:21960397
Kinsella, F; Kyle, P; Stansfield, A
We report a case of bilateral complete failure of adduction following bilateral translid antralethmoidal orbital decompression. We believe the probable mechanism is neuropraxia (temporary dysfunction) of the third cranial nerves' supply to the medial recti, owing to these nerves' occupying an anatomically abnormal position. Partial recovery of adduction occurred over the ensuing six months. Images PMID:2337551
Ling, D.; Korobkin, M.; Silverman, P.M.; Dunnick, N.R.
Bilateral adrenal hemorrhage with subsequent adrenal insufficiency is a recognized complication of anticoagulant therapy. Because the clinical manifestations are often nonspecific, the antemortem diagnosis of adrenal hemorrhage has been a difficult clinical problem. Computed tomography (CT) provides detailed images of the adrenal glands that are not possible with conventional imaging methods. The CT findings of bilateral adrenal hemorrhage in an anticoagulated patient are reported.
A 4-week-old male Pomeranian was presented with eyes that had remained closed since birth. Clinical examination of the orbits revealed that globes were bilaterally absent, suggesting clinical anophthalmos. Following ultrasound imaging of the orbits, a diagnosis of severe bilateral microphthalmos was made, a condition of rare occurrence with an etiology that is not fully understood. PMID:21358938
Dahan, Meryl; Lim, Chetana; Salloum, Chady
Postoperative bilateral adrenal hemorrhage is a rare but potentially life-threatening complication. This diagnosis is often missed because the symptoms and laboratory results are usually nonspecific. We report a case of bilateral adrenal hemorrhage associated with acute primary adrenal insufficiency following laparoscopic cholecystectomy. The knowledge of this uncommon complication following any abdominal surgery allows timey diagnosis and rapid treatment. PMID:27275469
Cho, Sung Ik; Lee, Jung Hwan
Lumbar intraspinal synovial cysts are included in the difference diagnosis of lumbar radiculopathy. Developing imaging modalities has result in increased reporting about these lesions. However, the case of bilateral new lumbar intraspinal synovial cysts after laminectomy has been rarely reported. We report of a rare case with bilateral lumbar intraspinal synovial cysts after laminectomy, requiring surgical excision. PMID:27799997
Val-Bernal, J Fernando; Argueta, Liza; Fernández-Flórez, Alejandro; Correas, Miguel Angel; Val, Daniel; Garijo, M Francisca; López-Rasines, Gerardo
Xanthogranulomatous orchitis (XGO) is a rare chronic inflammatory process characterized by destruction of tissue that is replaced by an outstanding cellular infiltrate of lipid-laden macrophages. To date, 20 cases of this process have been reported previously. We present herein the case of a 55-year-old man who had sustained complete tetraplegia at C-6 level and neuropathic bladder for 21 years. After repeated episodes of urinary tract infection, the patient developed a bilateral XGO and a right xanthogranulomatous epididymitis (XGE) that were treated with bilateral orchiepididymectomy. To our knowledge, a bilateral XGO has not yet been reported. Repeated episodes of high-pressure urinary reflux along the vas deferens during dyssynergic voiding possibly led to retrograde extension from the urinary tract by common urinary pathogens and development of bilateral XGO and right XGE. Since tissue destruction is a feature of this process, curative treatment required antibiotic therapy followed by bilateral excision of testes and epididymes.
Kurian, Jujju Jacob; Ninan, Pradeep Joseph
Childhood cystic partially differentiated nephroblastoma (CPDN) is an uncommon renal neoplasm. Bilateral CPDN or CPDN co-existing with a cystic nephroma/Wilms tumour is extremely rare. Treatment of CPDN is by complete surgical excision. Although local recurrences are uncommon, distant metastases have not been described. We present a case of bilateral CPDN that, after complete excision, recurred as bilateral cystic Wilms tumour. To the best of our knowledge, this is the first reported case in the literature where a bilateral CPDN has recurred as bilateral Wilms tumour.
Nair, Girija; Lobo, Ivona; Jayalaksmi, T K; Uppe, Abhay; Jindal, Savita; Chandra, Abhishek; Swami, Shivani
We report a case of a 24-year old male presented with cough and breathlessness with diabetes mellitus and diagnosed as a case of bloom syndrome. He was a product of consanguineous marriage, having short stature, dolicocephaly, polydactyly, prominent nose with telangiectasia face. The respiratory system examination revealed bilateral coarse crepitations and wheezes and the chest X-ray revealed emphysema with right middle zone inhomogenous opacity. Also, CT thorax examination revealed bilateral cystic bronchiectasis with bronchiolitis obliterans. Bloom's syndrome was diagnosed on the basis of clinical features.
Hageman, M J; Delleman, J W
Heterogeneity of Waardenburg syndrome is demonstrated in a review of 1,285 patients from the literature and 34 previously unreported patients in five families in the Netherlands. The syndrome seems to consist of two genetically distinct entities that can be differentiated clinically: type I, Waardenburg syndrome with dystopia canthorum; and type II, Waardenburg syndrome without dystopia canthorum. Both types have an autosomal dominant mode of inheritance. The incidence of bilateral deafness in the two types of the syndrome was found in one-fourth with type I and about half of the patients with type II. This difference has important consequences for genetic counseling. Images Fig. 7 Fig. 8 Fig. 9 PMID:331943
Blanchard, Scott; Griffin, Gregory D; Simon, Erin L
Acute compartment syndrome is a time-sensitive diagnosis and surgical emergency because it poses a threat to life and the limbs. It is defined by Matsen et al (Surg Gynecol Obstet. 1978;147(6):943–949) as "a condition in which increased pressure within a limited space compromises the circulation and function of the tissues within that space." The most common cause of compartment syndrome is traumatic injury. A variety of other conditions such as vascular injuries, bleeding disorders, thrombosis, fasciitis, gas gangrene, rhabdomyolysis, prolonged limb compression, cellulitis, and nephrotic syndrome may also cause compartment syndrome. Patients who are elderly, have preexisting nerve damage, or have psychopathology may have an atypical presentation. This case highlights the first report of a 75-year-old woman who developed painless bilateral compartment syndrome in the absence of traumatic injury.
Halioui-Louhaichi, S; Dridi, Y; Azzabi, O; Selmi, I; Fetni, I; Siala, N; Maherzi, A
Cushing syndrome (CS) is a rare feature of McCune-Albright syndrome. Treatments consist of bilateral adrenalectomy followed by lifelong glucocorticoid and mineralocorticoid treatment. However, cases of spontaneous remission of CS have been reported in the literature. We report a case of McCune-Albright syndrome with CS treated with metyrapone for 30 months with prolonged remission after a 12-year follow-up. Adrenalectomy may be avoided in some cases of CS caused by McCune-Albright syndrome. Metyrapone could be a good alternative to surgical treatment.
Crumpler, L. S.; Head, J. W.; Campbell, D. B.
There are three main highland areas on Venus: Beta Regio, Ishtar Terra and Aphrodite Terra. The latter is least known and the least mapped, yet existing analyses of Aphrodite Terra based on available Pioneer-Venus orbiter data suggest that it may be the site of extensive rifting. Some of the highest resolution (30 km) PV data (SAR) included most of the western half of Aphrodite Terra. Recent analysis of the SAR data together with Arecibo range-doppler topographic profiling (10 X 100 km horizontal and 10 m vertical resolution) across parts of Aphrodite, further characterized the nature of possible tectonic processes in the equatorial highlands. The existence of distinct topographic and radar morphologic linear discontinuities across the nearly east-west strike of Aphrodite Terra is indicated. Another prominent set of linear features is distinctly parallel to and orthogonal to the ground tracks of the PV spacecraft and are not included because of the possibility that they are artifacts. Study of the northwest trending cross-strike discontinuities (CSD's) and the nature of topographic and morphologic features along their strike suggest the presence of bilateral topographic and morphologic symmetry about the long axis of Aphrodite Terra.
Hendrix, Steven T; Barrett, Austin M; Chrea, Bopha; Replogle, William H; Hydrick, Josie M; Barrett, Gene R
Is there a correlation between increased posterior-inferior tibial slope angle and noncontact anterior cruciate ligament (ACL) injury? Does increasing the posterior-inferior tibial slope angle increase the risk of bilateral ACL injury? A computerized relational database (Access 2007; Microsoft Inc, Redmond, Washington) was used to conduct a retrospective review of patients undergoing bilateral or unilateral ACL reconstruction surgery or treatment by a single surgeon between 1995 and 2013. Included in the study were patients with bilateral and unilateral ACL injuries and patellofemoral pain syndrome with no associated ACL deficiency. Exclusion criteria included concomitant ligament injury, previous ACL reconstruction, and previous knee surgery. Also excluded were patients who did not have plain lateral radiographs. Fifty patients were randomly selected from each group. After controlling for age and Tegner activity level, the authors found that the posterior-inferior tibial slope angle was a significant predictor (P=.002) of noncontact ACL injury. Mean posterior-inferior tibial slope angle for the bilateral, unilateral, and control groups was 11.8°±2.3°, 9.3°±2.4°, and 7.5°±2.3°, respectively. In the group with unilateral ACL injury vs the group without ACL deficiency, a 1° increase in posterior-inferior tibial slope angle (P=.03) was associated with a 20% increase in unilateral ACL injury. In those with bilateral ACL injury vs those without ACL deficiency, a 1° increase in posterior-inferior tibial slope angle (P=.001) increased bilateral knee injury by 34%. The difference between the mean angles of the control group without ACL deficiency and both the bilateral injury and unilateral injury cohorts was statistically significant (P=.003). Increased posterior-inferior tibial slope angle is associated with an increased risk of noncontact bilateral and unilateral ACL injury. [Orthopedics. 2017; 40(1):e136-e140.]. Copyright 2016, SLACK Incorporated.
Giovansili, Iama; Belange, Georeges; Affortit, Aude
We report the case of a patient with Cushing disease revealed by bilateral central serous chorioretinopathy (CSCR). We present the clinical history, physical findings, laboratory results, and imaging studies of a 53-year-old Chinese woman with a Cushing disease revealed by bilateral CSCR. The association with CSCR and the pertinent literature are reviewed. A 53-year-old patient initially presented to the Department of Ophthalmology with a 4-week history of decreased vision in the left eye. Standard ophthalmologic examination and fluorescein angiography established the diagnosis of bilateral CSCR. Systemic clinical signs and biochemical analysis indicated hypercortisolism. Magnetic resonance imaging (MRI) of the pituitary gland showed a left-side lesion compatible with a microadenoma. The diagnosis of Adrenocorticotropic hormone (ACTH)-dependent Cushing syndrome secondary to a pituitary microadenoma was selected. Endoscopic endonasal transsphenoidal surgery was performed and the pituitary adenoma was successfully removed. The histology confirmed the presence of ACTH-immunopositive pituitary adenoma. Early postoperative morning cortisol levels indicated early remission. At 6 weeks postoperatively, the patient's morning cortisol remains undetectable, and serous retinal detachments had regressed. CSCR is an uncommon manifestation of endogenous Cushing syndrome. It can be the first presentation of hypercortisolism caused by Cushing disease. CSCR should be considered when assessing patients with Cushing syndrome complaining of visual disorders. On the other hand, it is useful in patients with an atypical form of CSCR to exclude Cushing's syndrome.
Sara, S A; Teh, B M; Friedland, P
Unilateral and bilateral sudden sensorineural hearing loss represent different disease entities. The unilateral condition is more common and predominantly idiopathic, and up to 65 per cent of patients spontaneously recover hearing. Conversely, the bilateral condition is rare, mostly associated with serious systemic conditions, and has a higher prevalence of morbidity and mortality. A literature search using the PubMed database was conducted using the MeSH terms 'sudden', 'bilateral' and 'sensorineural hearing loss'. One hundred and three reported cases of bilateral sudden sensorineural hearing loss were identified. The condition is most often associated with toxic, autoimmune, neoplastic and vascular conditions. A younger age of onset, with a bimodal age distribution, was seen for bilateral sudden sensorineural hearing loss, compared with the unilateral condition. Patients with the bilateral condition had more profound hearing loss, with poorer recovery and a 35 per cent mortality rate. Vestibular symptoms were also less common than in the unilateral condition. The presentation of bilateral sudden onset sensorineural hearing loss is a medical emergency requiring thorough and urgent investigation to exclude life-threatening and reversible conditions.
Zhu, Bo; Xu, Gu-feng; Liu, Yi-feng; Qu, Fan; Yao, Wei-miao; Zhu, Yi-min; Gao, Hui-juan; Zhang, Dan
Ectopic pregnancy is identified with the widely-applied assisted reproductive technology (ART). Bilateral ectopic pregnancy is a rare form of ectopic pregnancy which is difficult to be diagnosed at the pre-operation stage. In this paper, we presented an unusual case of heterochronic bilateral ectopic pregnancy after stimulated intrauterine insemination (IUI), where there has been a delay of 22 d between the diagnoses of the two ectopic pregnancies. Literature was reviewed on the occurrence of bilateral ectopic pregnancy during the past four years in the MEDLINE database. We found 16 cases of bilateral ectopic pregnancy reported since 2008, and analyzed the characteristics of those cases of bilateral ectopic pregnancy. We emphasize that ovulation induction and other ARTs may increase the risk of bilateral ectopic pregnancy. Because of the difficulty in identification of bilateral ectopic pregnancy by ultrasonography, the clinician should be aware that the treatment of one ectopic pregnancy does not preclude the occurrence of a second ectopic pregnancy in the same patient and should pay attention to the intra-operation inspection of both side fallopian tubes in any ectopic pregnancy case.
Chen, Yen-Hung; Young, Yi-Ho
This study adopted an inner ear test battery and MR imaging in patients with bilateral sudden sensorineural hearing loss (SSNHL) to investigate their causes, disease extent, and evaluate hearing outcome. From 1995 to 2014, 16 patients with bilateral SSNHL received audiometry, caloric test and MR imaging. Vestibular-evoked myogenic potential (VEMP) test was added to the test battery after 2000. Percentages of abnormal mean hearing level (MHL), cervical VEMP test, ocular VEMP test, and caloric test in patients with bilateral SSNHL were 100% (32/32), 100% (12/12), 100% (4/4), and 81% (26/32), respectively, implying that not only the cochlear part but also the vestibular part was severely affected in both ears. Causes of bilateral SSNHL were neoplasm in 5 patients, stroke in 5, meningitis in 1, and unknown in 5. Post-treatment MHL did not significantly differ from pre-treatment MHL indicating poor hearing outcome. Seven patients (44%) had passed away within 5years after onset, 2 patients were lost, and 7 patients survived. Via MR imaging, causes of bilateral SSNHL were identified for 69% of cases. Both cochlear and vestibular endorgans/afferents were identified to be severely affected bilaterally by the vestibular test battery and resulted in poor hearing outcome. A high mortality rate (44%) indicates that bilateral SSNHL is an ominous sign for a more sinister underlying disease. Copyright © 2016 Elsevier B.V. All rights reserved.
Borbolla-Pertierra, A M; Martínez-Hernández, C K; Juárez-Echenique, J C
A 5-year-old male presented with bilateral poor vision, esotropia and a previous diagnosis of cataract since he was 1 year old. The physical examination revealed bilateral posterior paracentric capsule opacification, vitreous cavity with a permeable pulsatile blood filled hyaloid artery in both eyes. He was kept under observation. Persistent hyaloid artery is an uncommon faulty primary vitreous regression, often unilateral (although it may be bilateral) and sporadic, associated with microphthalmos. It may be complicated with glaucoma and phthisis bulbi. Vitrectomy plus lensectomy or simple observation are the accepted treatment options. Copyright © 2012 Sociedad Española de Oftalmología. Published by Elsevier Espana. All rights reserved.
Kim, So-Yeon; Jang, Han-Bin; Kim, Jinu; Yoon, Sang Pil
The sternocleidomastoid muscle shows a wide range of variations including supernumerary muscular heads. We found a rare variation in the sternocleidomastoid muscle with bilateral supernumerary heads in a 67-year-old Korean male cadaver. Bilateral four muscle bellies were recorded: two sternomastoids, one cleido-occipital and one cleido-mastoid occipital on the right side, and one sternomastoid, one cleido-occipital and two cleido-mastoids on the left side. The variation of bilateral four heads on sternocleidomastoid muscle is important to surgeons and anesthetists for clinical using.
Shetty, J P; Shetty, Bhaskar; Makkanavar, J H; Chandrika
Diagnosis of ectopic pregnancy continues to be an important challenge. Here a case of incidental diagnosis of bilateral tubal ectopic pregnancy is reported. There was a ruptured tubal ectopic pregnancy on the left side and chronic ruptured tubal ectopic pregnancy on the right side. Leading cause of first trimester maternal deaths is due to complications of ectopic pregnancy. Here an unusual case of ectopic pregnancy is reported in which the patient had spontaneous bilateral tubal ectopic pregnancy which presented with left tubal rupture and subsequently emergency exploratory laparotomy revealed bilateral tubal mass, which on histopathological examination confirmed tubal pregnancy.
Doody, O.; Adam, W. R.; Foley, P. T.; Lyon, S. M.
Fibromuscular dysplasia (FMD) describes a group of conditions which cause nonatheromatous arterial stenoses, most commonly of the renal and carotid arteries, typically in young women. We report a rare case of bilateral segmental renal infarction secondary to FMD in a young male patient. His initial presentation with loin pain and pyrexia resulted in a delay in the definitive diagnosis of FMD. He was successfully treated with bilateral balloon angioplasty. The delayed diagnosis in this patient until the condition had progressed to bilateral renal infarcts highlights the need for prompt investigation and diagnosis of suspected cases of FMD.
Chuquilin, Miguel; Al-Lozi, Muhammad
A 77-year-old man, with a history of lymphoma, presented with isolated neck extensor weakness and a 2-year history of bilateral carpal tunnel syndrome (CTS). Needle electromyography showed myopathic changes, and biopsy of cervical paraspinal muscles showed amyloid deposition in blood vessels. Amyloidosis should be considered in the differential diagnosis of dropped head syndrome.
Narang, Subina; Gupta, Panchmi; Sharma, Anuj; Sood, Sunandan; Palta, Anshu; Goyal, Shilpa
Central retinal vein occlusion (CRVO) is a common pathology of the retinal vasculature. Patients with CRVO usually present with a drop in visual acuity. The condition bears no specific therapy; treatment is aimed at the management of potentially blinding complications, of which there are many. With majority of cases being unilateral, bilateral CRVO is usually associated with an underlying systemic illness such as a hyperviscosity syndrome. Here, we present a case of a patient, who presented with a bilateral drop in vision diagnosed as bilateral CRVO on ophthalmic evaluation. Systemic workup revealed the presence of an underlying undiagnosed chronic myeloid leukemia. An initial presentation to the ophthalmologist is a rare occurrence in leukemic patients. This case report highlights the role of the ophthalmologist in diagnosing a potentially life-threatening hematological illness.
Franceschi, Francesco; Barnaba, Simona Angela; Rojas, Mario; Gualdi, Giancarlo; Rizzello, Giacomo; Papalia, Rocco; Denaro, Vincenzo
Knee injuries in young athletes include not only the typical adult bone injuries, ligament and cartilage, but also the growth plate lesions. Osteochondroses are idiopathic, self-limited disturbance of enchondral ossification in which a rapid growth spurt is present. The patella could be affected by two different kinds of osteochondroses: Kohler syndrome and Sinding-Larsen-Johansson. Here we are reporting the first case of simultaneous location of osteochondroses of the two ossification centers of both patella. A 9-year-old boy, competitive skater, presented a history of anterior knee pain involving both knees. Standard X-rays, axial patellar view, MRI and arthro-MR were performed. In order to follow the natural history of the pathology and the evolution of the healing, examinations at 2 years were repeated. We proposed the young skater a medical and a physiotherapeutic treatment based on unloading, isometric exercises, NSAID. As the symptoms improve a gradual return to competitive sports activity was allowed. The case mentioned above can be considered an atypical case because the patient suffered for a bilateral knee osteochondroses, involving simultaneously the primary ossification centre (Kohler syndrome) and the secondary ossification centre (Larsen syndrome) of the patella.
Erer, Sevda; Boz, Meral; Taskapilioglu, Ozlem; Hakyemez, Bahattin; Kaderli, Berkant; Zarifoglu, Mehmet
Susac's syndrome is a vasospastic disease resulting from bilateral microangiopathy of the brain, cochlea and retina. It is characterized by encephalopathy, bilateral sensorineural fluctuating hearing loss and visual loss. It is very uncommon and usually affects women during young adulthood. Since all three symptoms of the triad may not be present, the clinical diagnosis is difficult. Therefore, neuroimaging, particularly magnetic resonance imaging, has an important role in establishing the diagnosis. In this case report, we present a young woman who had all the symptoms of Susac's syndrome. This is the first Susac's syndrome case reported in Turkey.
Rutkowska, Izabela; Lieberman, Lauren J; Bednarczuk, Grzegorz; Molik, Bartosz; Kazimierska-Kowalewska, Kalina; Marszałek, Jolanta; Gómez-Ruano, Miguel-Ángel
The purpose of this study was to evaluate the bilateral coordination in children and adolescents with visual impairments aged 7 to 18 years in comparison to their sighted peers. An additional objective was to identify the influence of sex and age on bilateral coordination. Seventy-five individuals with congenital severe visual impairment (40 girls and 35 boys) comprised the visually impaired group. The Sighted group comprised 139 youth without visual impairment. Subtest 4 of the Bruininks-Oseretsky Test of Motor Proficiency was administered to test bilateral coordination. To analyze the effect of the independent variables in the results obtained in the Subtest 4, four linear regression models were applied according to group and sex. The results indicated that severe visual impairment and lack of visual sensation had a negative effect on the development of participants' bilateral coordination, which however did not depend on sex or age. © The Author(s) 2016.
Biyani, C S; Torella, F; Cornford, P A; Brough, S J
This case report describes a patient with bilateral nephrocutaneous fistulae and xanthogranulomatous pyelonephritis. Contralateral involvement of the psoas muscle is a rare occurrence and has not been previously documented.
Ahmad, Syed Shoeb; Binson, Caroline; Lung, Chong Ka; Ghani, Shuaibah Abdul
Summary Exuberant persistent pupillary membranes (PPM) are rare in adult eyes. We report the case of a 53-year-old man diagnosed with bilateral, profuse, persistent pupillary membranes and unilateral cataract. PMID:23362401
Ferri, Raffaele; Manconi, Mauro; Rundo, Francesco; Zucconi, Marco; Aricò, Debora; Bruni, Oliviero; Ferini-Strambi, Luigi; Fulda, Stephany
Study Objectives: The aim of this study was to describe and analyze the association between bilateral leg movements (LMs) during sleep in subjects with restless legs syndrome (RLS), in order to eventually support or challenge the current scoring rules defining bilateral LMs. Methods: Polysomnographic recordings of 100 untreated patients with RLS (57 women and 43 males, mean age 57 y) were included. In each recording, we selected as reference all LMs that occurred during sleep and that were separated from another ipsilateral LM by at least 10 sec of EMG inactivity. For each reference LM and an evaluation interval from 5 sec before the onset to 5 sec after the offset of the reference LM, we evaluated (1) the presence or absence of contralateral leg movement activity and (2) the distribution of the onset-to-onset and (3) the offset-to-onset differences between bilateral LMs. Results: We selected a mean of 368 (± 222 standard deviation [SD]) reference LMs per subject. For 42% (± 22%) of the reference LMs no contralateral leg movement activity was observed within the evaluation interval. In 55% (± 22%) exactly one and in 3% (± 2%) more than one contralateral LM was observed. A further evaluation of events where exactly one contralateral LM was observed showed that in most (1) the two LMs were overlapping (93% ± 9% SD) and (2) were classified as bilateral according to the World Association of Sleep Medicine and the International Restless Legs Syndrome Study Group (WASM/ IRLSSG) (96% ± 6% SD) and (3) the American Academy of Sleep Medicine scoring rules (99% ± 2% SD). Although there was a systematic and statistically significant difference in standard LM indices during sleep based on the two different definitions of bilateral LMs, the size of the difference was not clinically meaningful (maximum individual, absolute difference in LM indices ± 2.5). In addition, we found that the duration of LMs within bilateral LM pairs was longer compared to monolateral LMs and
Lee, E J; Yang, Y S; Yoon, Y J
We report a case of bilateral pneumolabyrinth presenting as sudden, bilateral deafness, without temporal bone fracture, after a fall. A 49-year-old man presented with sudden, bilateral deafness and whirling vertigo, without any other neurological manifestations. Temporal bone computed tomography clearly demonstrated the presence of air in the vestibule and cochlea on both sides. However, there was no definite fracture line, ossicular chain anomaly or soft tissue density in the temporal bone or middle-ear cavity. The patient was treated conservatively. Unfortunately, there was no improvement in his hearing. Pneumolabyrinth is an uncommon condition in which air is present in the vestibule or cochlea. It is rarely found, even with fractures violating the otic capsule or with transverse fractures of the temporal bone. In addition, its bilateral occurrence is extremely rare. In this article, we describe a case of bilateral pneumolabyrinth presenting as sudden, bilateral deafness, without temporal bone fracture, an occurrence which has not previously been reported.
Sharma, Anand; Sharma, Achal; Mittal, Radhey S; Gandhi, Ashok
Bilateral cerebellopontine angle (CPA) arachnoid cysts (ACs) are very rare: only one case is reported in literature. Pathogenesis of those cysts is unknown; they are thought to be congenital. The presenting symptoms of CPA AC are frequently nonspecific or otological. The management of ACs of the CPA is controversial. We are reporting two cases of bilateral CPA AC with their pathophysiology and review of literature.
Joseph, Rona; Soman, Lali V.
Extramedullary plasmacytoma (EMP) is usually seen in the head and neck regions and in the upper respiratory, gastrointestinal, and central nervous systems. Testis is a rare site for EMP, and bilateral synchronous testicular plasmacytoma occurring as an isolated event at initial presentation has been reported only once previously. We present herein the second such report in a 70-year-old man who underwent bilateral orchidectomy. PMID:27034568
Valldeperas, Xavier; Angi, Martina; Romano, Vito; Romano, Mario R.
We report the clinical findings of a patient with severe bilateral keratectasia 34 years after a penetrating keratoplasty (PK) in both eyes. An otherwise healthy 67-year-old man complained of deterioration of the eyesight in both eyes over the last 6 months. The patient was diagnosed with bilateral keratoconus at the age of 32 years, and he underwent a bilateral PK. At presentation, visual acuity was 20/200 in the right eye and light perception in the left eye. A Pentacam pachymetric map revealed a central pachymetry of 720 μm in the right eye and of 710 μm in the left eye, as well as an average paracentral pachymetry of 436 and 270 μm in the 9-mm zone in the right and the left eye, respectively. Corneal topography revealed bilateral irregular and asymmetric bowing with generalized steepening and high corneal power. We describe a case of bilateral keratectasia 34 years after PK in a patient who was originally diagnosed with bilateral keratoconus. PMID:20737056
Neto, Francisco Laitano; Zerwes, Felipe Pereira
Fibroadenoma is the most common benign tumor of the breast but giant juvenile fibroadenoma represent only 0.5% of all fibroadenomas and when bilateral are much more rare. We describe the case of a 25 years old girl that presented with bilateral giant juvenile fibroadenomas and was treated by bilateral skin reducing mastectomy using the inferior dermal flap, implant, and free nipple graft. PMID:27563567
James, Frances M; Parente, Eric J; Palmer, Jonathan E
A 1-day-old Standardbred foal with a history of extreme respiratory distress after birth consistent with upper airway obstruction was evaluated. A temporary tracheostomy tube was placed by the referring veterinarian. On initial examination, there was evidence of hypoxic-ischemic syndrome, secondary to perinatal asphyxia. Endoscopy revealed obstruction of both nares at the level of the choanae; a diagnosis of bilateral choanal atresia was made. The foal was anesthetized and underwent transendoscopic laser fenestration of the buccopharyngeal membranes. Three weeks after surgery, cicatricial narrowing of the choanae was apparent and further transendoscopic ablation was performed. Recurrent stenosis necessitated revision surgeries involving a combination of laser ablation with topical administration of mitomycin and, subsequently, a combination of radial incisions into the stenotic tissue and repeated bougienage with a cuffed endotracheal tube. The degree of stenosis decreased, and at 1 year of age, the horse was an appropriate size for its age, had choanae that were almost maximally open (> 85%), and had entered training. Mild stenosis was still evident when the horse was reexamined the following year, although there was no evidence of exercise intolerance or respiratory compromise. Bilateral choanal atresia in a foal can be successfully treated via transendoscopic fenestration of the buccopharyngeal membranes, enabling the horse to subsequently participate in athletic activities. Secondary problems resulting from initial asphyxia and recurrent stenosis at the surgical site can be overcome but may require prolonged and extensive treatment.
Patel, Alok; Jagtap, Chetana; Bhat, Chetan; Shah, Rohan
Amelogenesis imperfecta (AI) is a group of hereditary disorders that affect the quality and/or quantity of dental enamel. This paper describes the clinicopathological features of a patient who was born of nonconsanguineous parents and who presented with oral alterations, including yellow and misshapen teeth, intrapulpal calcifications, delayed tooth eruption, and gum enlargement. Scanning electron microscopy of the teeth revealed hypoplastic enamel, and a renal ultrasound detected bilateral nephrocalcinosis, leading to a diagnosis of AI and nephrocalcinosis syndrome. Since nephrocalcinosis is often asymptomatic and can be associated with impaired renal function, dentists who see children with a generalized and thin hypoplastic AI should consider a renal ultrasound scan and referral to a Nephrologist. Children with nephrocalcinosis should also be considered for a dental check.
Bejot, Yannick; Caillier, Marie; Osseby, Guy-Victor; Didi, Roy; Ben Salem, Douraied; Moreau, Thibault; Giroud, Maurice
Ischemia of the areas supplied by the anterior cerebral artery is relatively uncommon. In addition, combined hemiballismus and masturbation have rarely been reported in patients with cerebrovascular disease. We describe herein a 62-year-old right-handed man simultaneously exhibiting right side hemiballismus and involuntary masturbation with the left hand after bilateral infarction of the anterior cerebral artery territory. Right side hemiballismus was related to the disruption of afferent fibers from the left frontal lobe to the left subthalamic nucleus. Involuntary masturbation using the left hand was exclusively linked to a callosal type of alien hand syndrome secondary to infarction of the right side of the anterior corpus callosum. After 2 weeks, these abnormal behaviours were completely extinguished. This report stresses the wide diversity of clinical manifestations observed after infarction of the anterior cerebral artery territory.
Bach, Dominik R; Hurlemann, Rene; Dolan, Raymond J
The amygdala is proposed to process threat-related information in non-human animals. In humans, empirical evidence from lesion studies has provided the strongest evidence for a role in emotional face recognition and social judgement. Here we use a face-in-the-crowd (FITC) task which in healthy control individuals reveals prioritised threat processing, evident in faster serial search for angry compared to happy target faces. We investigate AM and BG, two individuals with bilateral amygdala lesions due to Urbach-Wiethe syndrome, and 16 control individuals. In lesion patients we show a reversal of a threat detection advantage indicating a profound impairment in prioritising threat information. This is the first direct demonstration that human amygdala lesions impair prioritisation of threatening faces, providing evidence that this structure has a causal role in responding to imminent danger. Copyright © 2014 The Authors. Published by Elsevier Ltd.. All rights reserved.
Cladiere-Nassif, Victoire; Delaroche, Caroline; Pottier, Edwige; Feron, Jean-Marc
We report a case of a 75-year-old woman presenting a hitherto undescribed condition of bilateral second carpal row duplication. She was diagnosed in childhood with both Marfan and Ehlers-Danlos syndromes, with no clear evidence and no further medical follow-up. She presented throughout her life with various articular symptoms, which appeared to be compatible with a diagnosis of multiple epiphyseal dysplasia, and underwent several surgical procedures on her knees and hips. Most recently, she was reporting pain at the base of the fifth metacarpal bone of the left hand. X-ray images and computed tomography (CT) were obtained for exploration and showed a total second row duplication in both carpi, with a total number of 18 carpal bones in each wrist. PMID:26649258
Bach, Dominik R.; Hurlemann, Rene; Dolan, Raymond J.
The amygdala is proposed to process threat-related information in non-human animals. In humans, empirical evidence from lesion studies has provided the strongest evidence for a role in emotional face recognition and social judgement. Here we use a face-in-the-crowd (FITC) task which in healthy control individuals reveals prioritised threat processing, evident in faster serial search for angry compared to happy target faces. We investigate AM and BG, two individuals with bilateral amygdala lesions due to Urbach–Wiethe syndrome, and 16 control individuals. In lesion patients we show a reversal of a threat detection advantage indicating a profound impairment in prioritising threat information. This is the first direct demonstration that human amygdala lesions impair prioritisation of threatening faces, providing evidence that this structure has a causal role in responding to imminent danger. PMID:25282058
Nehete, Rajendra; Nehete, Anita; Singla, Sandeep; Adhav, Harshad
In bilateral thumb amputations, the functional impairment is serious and every attempt should be made to reconstruct the thumb. We report a case of bilateral post traumatic thumb amputation, reconstructed with bilateral second toe transfer. Only two such cases have been reported in literature so far. Though there are various modalities for the reconstruction of thumb, microvascular toe transfer has its own merits. The convalescent period is minimal with excellent function. It is bilaterally symmetric and aesthetically superior to the osteoplastic reconstruction. The technical details are discussed, and the long term functional and aesthetic results are presented. PMID:22754176
Nehete, Rajendra; Nehete, Anita; Singla, Sandeep; Adhav, Harshad
In bilateral thumb amputations, the functional impairment is serious and every attempt should be made to reconstruct the thumb. We report a case of bilateral post traumatic thumb amputation, reconstructed with bilateral second toe transfer. Only two such cases have been reported in literature so far. Though there are various modalities for the reconstruction of thumb, microvascular toe transfer has its own merits. The convalescent period is minimal with excellent function. It is bilaterally symmetric and aesthetically superior to the osteoplastic reconstruction. The technical details are discussed, and the long term functional and aesthetic results are presented.
Lee, Ji Seong; Park, Ji Young; Ko, Seong Min; Seo, Dong-Man
Right aortic arch with isolation of the left subclavian artery is a rare anomaly. The incidence of bilateral ductus arteriosus is sporadic, and a right aortic arch with isolation of the left subclavian artery in association with bilateral ductus arteriosus is therefore extremely rare. Since the symptoms and signs of isolation of the left subclavian artery can include the absence or underdevelopment of the left arm, subclavian steal syndrome, or pulmonary artery steal syndrome, the proper therapeutic approach is controversial. We report a case in which surgical reconstruction was used to treat isolation of the left subclavian artery with right aortic arch in association with bilateral ductus arteriosus and a ventricular septal defect. PMID:26665110
Ibn Yacoub, Yousra; Amine, Bouchra; Laatiris, Assia; Hajjaj-Hassouni, Najia
Adult-onset Still's disease (AOSD) is an uncommon inflammatory condition of unknown origin and pathogenesis. Pulmonary manifestations are rare and include pleuritis and transient radiological infiltrations. We report a case of a young woman with AOSD who developed unusual respiratory symptoms, with bilateral lower lobar atelectasis and restrictive syndrome and reviewed the literature on it. We illustrate the difficulties in diagnosis of atypical pulmonary defect with unusual radiological aspects and discuss causality relationship between lung abnormalities and Still's disease.
Sasidharan, C K; Anoop, P
The fetal consequences of chickenpox complicating pregnancy depends on the period of gestation at which the infection is contracted. The extremely rare classical form of congenital varicella syndrome, resulting from maternal varicella infection in the first trimester of pregnancy, is being reported here. The unusual features in this baby are bilateral hypoplastic lower extremities, fracture of bones, a normal electroencephalogram and phantom hernias of the anterior abdominal wall.
do Nascimento, Ana Cláudia Mendes; Gaspardo, Daniela Barros Cortez; Cortez, Tatiana Mimura; Miot, Hélio Amante
The authors present a male 40-year-old patient with established diagnosis of Behçet's disease which had evolved to recurrent bilateral auricular polychondritis crises. MAGIC syndrome (mouth and genital ulcers with inflamed cartilage) is rare and groups together patients with this clinical picture without necessarily fulfilling the clinical criteria for Behçet's disease or relapsing polychondritis, demonstrating an independent disorder. PMID:24626673
Kahloul, N; Chaari, W; Boughamoura, L; Charfeddine, L; Khammeri, S; Amri, F
Fahr syndrome is defined by the presence of striopallidal notched bilateral and symmetric calcifications at the base of the skull. We report an observation of a 12-year-old girl who presented gait impairment, seizures, somnolence and aphasia. Brain computed tomodensitometry identified intracranial calcifications. The tests demonstrated pseudohypoparathyroidism.
Solin, L J; Fowble, B L; Schultz, D J; Goodman, R L
From 1977 to 1987, 30 women were treated with definitive irradiation following breast-conserving surgery for bilateral carcinoma of the breast for a total of 60 treated breasts. Eleven women presented with concurrent bilateral carcinoma, and 19 women had sequential bilateral carcinoma. Pathologic axillary staging was performed in 51 of the 60 treated breasts. A total dose of greater than or equal to 6,000 cGy was delivered from breast tangential irradiation plus an electron or Iridium boost to 95% (57/60) of the treated breasts. A third field was used to treat the regional axillary and supraclavicular lymph nodes bilaterally in three women (10%) and unilaterally in ten women (33%). Tangential fields were matched at midline in 17 patients, and in ten patients, the tangential fields overlapped by up to 3 cm on skin. In two patients, the tangential fields were matched to an internal mammary nodal field, and in one patient, tangential fields were matched to a mediastinal field given for postoperative radiotherapy for lung cancer. For the overall group of 30 patients, the 5-year actuarial NED survival following treatment of the first breast cancer was 79%, and the 5-year actuarial relapse-free survival was 72%. For the 60 treated breasts, the 5-year actuarial local failure rate was 6%. An analysis of complications and cosmesis showed results similar to previously reported results for unilateral breast cancer. These results show that definitive irradiation following breast-conserving surgery for patients with bilateral breast cancer can technically be delivered with low complication rates and with acceptable survival and local control rates. Definitive irradiation should be considered as an acceptable alternative treatment to bilateral mastectomy for appropriately selected patients with concurrent or sequential bilateral early stage carcinoma of the breast.
Bedoya, Maria A; McGraw, Michael H; Wells, Lawrence; Jaramillo, Diego
Bilateral agenesis of the anterior cruciate ligament (ACL) is extremely rare. We describe a 13-year-old girl who presented with bilateral knee pain without history of trauma; she has two family members with knee instability. Magnetic resonance imaging showed bilateral absence of the ACL, and medial posterior horn meniscal tears. Bilateral arthroscopic partial meniscectomy and anterior cruciate ligament reconstruction was performed.
Craniosynostosis is defined as the premature fusion of one or more of the cranial sutures. It leads not only to secondary distortion of skull shape but to various complications including neurologic, ophthalmic and respiratory dysfunction. Craniosynostosis is very heterogeneous in terms of its causes, presentation, and management. Both environmental factors and genetic factors are associated with development of craniosynostosis. Nonsyndromic craniosynostosis accounts for more than 70% of all cases. Syndromic craniosynostosis with a certain genetic cause is more likely to involve multiple sutures or bilateral coronal sutures. FGFR2, FGFR3, FGFR1, TWIST1 and EFNB1 genes are major causative genes of genetic syndromes associated with craniosynostosis. Although most of syndromic craniosynostosis show autosomal dominant inheritance, approximately half of patients are de novo cases. Apert syndrome, Pfeiffer syndrome, Crouzon syndrome, and Antley-Bixler syndrome are related to mutations in FGFR family (especially in FGFR2), and mutations in FGFRs can be overlapped between different syndromes. Saethre-Chotzen syndrome, Muenke syndrome, and craniofrontonasal syndrome are representative disorders showing isolated coronal suture involvement. Compared to the other types of craniosynostosis, single gene mutations can be more frequently detected, in one-third of coronal synostosis patients. Molecular diagnosis can be helpful to provide adequate genetic counseling and guidance for patients with syndromic craniosynostosis. PMID:27226847
Ursaru, Manuela; Jari, Irma; Gheorghe, Liliana; Naum, A G; Scripcariu, V; Negru, D
To assess bilateral breast cancer patients, initially diagnosed with stage II unilateral breast cancer. 113 patients with stage 0-II breast cancer diagnosed between 1983 and 2011 were assessed. Of these, 8 patients had bilateral breast cancer: 7 patients with metachronous bilateral breast cancer and 1 patient with synchronous breast cancer. Breast ultrasound, mammography, computed tomography and magnetic resonance imaging were used to diagnose recurrence, loco regional and distant metastasis. Age at diagnosis ranged from 37 to 59 years, with a maximum age incidence in the 4th decade (age between: 31-40 years). The average time interval between the two breast cancers was 8.125 years. The most common histological type was invasive ductal carcinoma. All eight patients with bilateral breast cancer had at least one type of recurrence/metastasis, mostly in the liver, and statistically the pleuropulmonary and liver metastases were the most frequent causes of death. Patients in the 4th decade diagnosed with unilateral breast cancer are at risk of developing bilateral breast cancer. In metachronous breast cancer, the time interval between the detection of the second breast cancer and death is directly proportional to the time interval between the two breast cancers. TASTASES, DEATH.
Jerome-D'Emilia, Bonnie; Suplee, Patricia D; Boiler, Jennifer L K; D'Emilia, John C
Rates of bilateral mastectomy as treatment for unilateral breast cancer have been rising. Quantitative analyses have resulted in assumptions about why women choose this procedure, without confirmation from the women. The objective of this study was to explore a woman's decision making in the choice of bilateral mastectomy as a treatment for unilateral breast cancer, regardless of stage. A qualitative descriptive design was used. In-depth interviews were conducted by 2 researchers using a semistructured interview guide to elicit data, which were coded and analyzed using thematic analysis. Twenty-three women were interviewed. Five themes were identified that address specific determinants of the decision-making process: finding something, collecting evidence, perceived level of risk, identifying priorities, and making the decision. Nine women reported that their physicians recommended bilateral mastectomy. Women who recalled being advised of their risk of recurrence reported overestimates of that risk. The reasons women chose bilateral mastectomy were to avoid a lifetime of follow-up screenings with the subsequent fear of hearing that the breast cancer had returned and wanting to stay alive and well for their children and families. Except for women carrying genetic susceptibility to breast cancer, bilateral mastectomy is not considered the standard of care. Yet women are being offered or choosing this procedure. Nurses can be advocates for women by speaking positively about how women have the right to choose their treatment based on best evidence and personal choice. This evidence should include benefits and risks of the treatment.
Ferri, Raffaele; Manconi, Mauro; Rundo, Francesco; Zucconi, Marco; Aricò, Debora; Bruni, Oliviero; Ferini-Strambi, Luigi; Fulda, Stephany
The aim of this study was to describe and analyze the association between bilateral leg movements (LMs) during sleep in subjects with restless legs syndrome (RLS), in order to eventually support or challenge the current scoring rules defining bilateral LMs. Polysomnographic recordings of 100 untreated patients with RLS (57 women and 43 males, mean age 57 y) were included. In each recording, we selected as reference all LMs that occurred during sleep and that were separated from another ipsilateral LM by at least 10 sec of EMG inactivity. For each reference LM and an evaluation interval from 5 sec before the onset to 5 sec after the offset of the reference LM, we evaluated (1) the presence or absence of contralateral leg movement activity and (2) the distribution of the onset-to-onset and (3) the offset-to-onset differences between bilateral LMs. We selected a mean of 368 (± 222 standard deviation [SD]) reference LMs per subject. For 42% (± 22%) of the reference LMs no contralateral leg movement activity was observed within the evaluation interval. In 55% (± 22%) exactly one and in 3% (± 2%) more than one contralateral LM was observed. A further evaluation of events where exactly one contralateral LM was observed showed that in most (1) the two LMs were overlapping (93% ± 9% SD) and (2) were classified as bilateral according to the World Association of Sleep Medicine and the International Restless Legs Syndrome Study Group (WASM/ IRLSSG) (96% ± 6% SD) and (3) the American Academy of Sleep Medicine scoring rules (99% ± 2% SD). Although there was a systematic and statistically significant difference in standard LM indices during sleep based on the two different definitions of bilateral LMs, the size of the difference was not clinically meaningful (maximum individual, absolute difference in LM indices ± 2.5). In addition, we found that the duration of LMs within bilateral LM pairs was longer compared to monolateral LMs and that the duration of the single LMs in
Sá, Francisca; Menezes Cordeiro, Inês; Mestre, Susana; Nzwalo, Hipólito
Foix-Chavany-Marie syndrome (FCMS) also known as bilateral anterior opercular syndrome is a form of suprabulbar palsy defined by the presence of bilateral voluntary facial, pharyngeal, lingual and masticatory paralysis with automatic–voluntary movement dissociation. We report an extremely rare case of FCMS in a patient with a unilateral left opercular lesion associated with a chronic asymptomatic contralateral cerebellar lesion. Despite intensive rehabilitation, little improvement was noticed at hospital discharge. PMID:25427932
Fullagar, Bronwyn A; Rajala-Schultz, Päivi; Hettlich, Bianca F
This retrospective study compared complication rates in 93 client-owned dogs (119 stifles) undergoing single-session bilateral, staged bilateral, or unilateral surgery for bilateral medial patellar luxation. Clinical characteristics and complication rates were compared and risk factors for major complications were explored. Sixty-five dogs had unilateral, 16 staged bilateral and 11 single-session bilateral surgery. Complications occurred in 28/119 stifles (24%), 11 (9%) of which required revision surgery. Patellar reluxation occurred in 7/119 (6%) stifles, with no revision required. There was no significant association between timing of surgery and incidence of complications. In dogs < 10 kg with bilateral medial patellar luxation, single-session bilateral surgery is a feasible treatment option with a complication rate comparable to staged bilateral or unilateral medial patellar luxation surgery.
Stott, M. A.; Sutton, R.; Royle, G. T.
Two hundred and forty four patients underwent either simultaneous bilateral inguinal hernia repair (n = 122) or unilateral inguinal hernia (n = 122) repair at a general hospital between January 1971 and December 1981. The two groups of patients were matched for age and sex. Both groups had a similar overall incidence of post-operative complications and in both groups the duration of post-operative stay and duration of operating time were similar. Chest infections developed in 12 patients after bilateral repair and in 3 patients after unilateral repair (P less than 0.02). All patients were assessed prospectively from 4 to 15 years after operation, when no significant difference in the number of recurrent hernias was found. Our results suggest that simultaneous bilateral inguinal herniorrhaphy is economical in terms of both operating time and duration of hospital stay, and that this economy is not bought at a cost of increased short term morbidity or long-term recurrence rate. PMID:3200778
Demir, M Necati; Acar, Mehmet Akif; Aral, Yusuf Ziya; Ünlü, Nurten
Purpose To report a bilateral leukocoria case in a patient suffering from afibrinogenemia. Methods An observational case where congenital afibrinogenemia was presented with bilateral retinal and vitreous hemorrhages that proceeded to vitreoretinal surgery was presented. In addition, complete ophthalmic and radiological examinations and vitreoretinal surgery were performed. Results Right eye had a complete recovery while the left eye showed serious proliferative vitreoretinopathy and shortened retina. Three years after the surgery clinical examination showed that the right eye was aphacic with an attached retina and clear ocular media while the left eye was phtysic. Conclusion We recommend broad clotting profile for infants suffering from vitreous or retinal hemorrhages with no obvious physical abuse. Our present case furthermore implies that afibrinogenemia can lie beneath the pathogenesis of bilateral leukocoria and should alert physician for the presence of an afibrinogenemia among several types of bleeding predispositions. PMID:19668740
Geiger, Ann M; Nekhlyudov, Larissa; Herrinton, Lisa J; Rolnick, Sharon J; Greene, Sarah M; West, Carmen N; Harris, Emily L; Elmore, Joann G; Altschuler, Andrea; Liu, In-Liu A; Fletcher, Suzanne W; Emmons, Karen M
Bilateral prophylactic mastectomy in women with increased breast cancer risk dramatically reduces breast cancer occurrence but little is known about psychosocial outcomes. To examine long-term quality of life after bilateral prophylactic mastectomy, we mailed surveys to 195 women who had the procedure from 1979 to 1999 and to a random sample of 117 women at increased breast cancer risk who did not have the procedure. Measures were modeled on or drawn directly from validated instruments designed to assess quality of life, body image, sexuality, breast cancer concerns, depression, health perception, and demographic characteristics. We used logistic regression to examine associations between quality of life and other domains. The response rate was 58%, with 106 women with and 62 women without prophylactic mastectomy returning complete surveys. Among women who underwent bilateral prophylactic mastectomy, 84% were satisfied with their decision to have the procedure; 61% reported high contentment with quality of life compared with an identical 61% of women who did not have the procedure (P = 1.0). Among all subjects, diminished contentment with quality of life was not associated with bilateral prophylactic mastectomy but with dissatisfaction with sex life (adjusted ratio [OR] = 2.5, 95% confidence interval [CI] = 1.0-6.2), possible depression (CES-D > 16, OR = 4.9, CI = 2.0-11.8), and poor or fair general health perception (OR = 8.3, 95% CI = 2.4-29.0). The majority of women reported satisfaction with bilateral prophylactic mastectomy and experienced psychosocial outcomes similar to women with similarly elevated breast cancer risk who did not undergo prophylactic mastectomy. Bilateral prophylactic mastectomy appears to neither positively nor negatively impact long-term psychosocial outcomes.
Papillary thyroid cancer is the most common type of thyroid malignancy and has an excellent prognosis. Distant organ metastasis is rare. Bilateral adrenal metastases with iodine uptake has not been described before. A 47-year-old woman presented for evaluation because of severe right upper arm pain and weakness. Magnetic resonance imaging of the thoracic spine showed a compression fracture at the third thoracic vertebra associated with a soft tissue mass. Computed tomography (CT)-guided biopsy of the mass showed metastatic papillary thyroid carcinoma. Ultrasonography of the neck showed an enlarged right thyroid lobe with cervical lymphadenopathy. A high-resolution CT scan of the chest showed multiple bilateral pulmonary nodules. Treatment included total thyroidectomy and lymph node dissection, external beam radiation to the thoracic spine, and (131)I therapy. Initial whole body (131)I scintigraphy showed faint uptake in the right upper abdomen, interpreted as a sign of physiologic bowel activity; however, repeat whole body (131)I scintigraphy showed increased uptake in both adrenal glands, consistent with metastatic disease. Serial abdominal CT scans showed progressively enlarging bilateral adrenal masses. Despite additional treatment with (131)I, the patient's disease progressed at all metastatic sites. This patient had bilateral adrenal metastases from advanced papillary thyroid cancer with distant metastasis to lung and bone at initial presentation and poor response to repeated (131)I therapy. Unilateral adrenal metastasis from thyroid cancer has been described previously in six cases; this is the first case report of bilateral adrenal metastases. Bilateral adrenal metastasis is rare in papillary thyroid cancer. Elevated abdominal uptake of (131)I in a high-risk patient may be a sign of abdominal metastatic disease.
Burghardt, Rolf D.; Yoshino, Koichi; Kashiwagi, Naoya; Yoshino, Shigeo; Bhave, Anil; Paley, Dror; Herzenberg, John E.
Purpose Outcome assessment after double level tibial lengthening in patients with dwarfism. Methods Fourteen patients with dwarfism were analyzed after bilateral simultaneous double level tibial lengthening. Results Average age was 15.1 years. Average lengthening was 13.5 cm. The two levels were lengthened by an average of 7.5 cm proximally and 6.0 cm distally. Concomitant deformities were also addressed during lengthening. External fixation treatment time averaged 8.8 months. Healing index averaged 0.7 months/cm. Conclusion Bilateral tibial lengthening for dwarfism is difficult, but the results are usually quite gratifying. PMID:26566326
Sony, Parul; Venkatesh, Pradeep; Tewari, Hem Kumar; Garg, Sat Pal
A 28-year-old man presented with bilateral acute loss of vision following a high-voltage injury. The visual acuity was 6/36 in the right eye and 6/24 in the left eye. Fundus examination revealed a well-defined round lesion simulating a full thickness macular hole in the right eye and yellow deposits in the macular area in the left eye. Optical coherence tomography (OCT) showed bilateral macular cysts, with intact outer and inner retinal layers. At 1 month follow up, OCT showed a persistent macular cyst in the right eye with spontaneous resolution of the macular cyst along with visual improvement in the left eye.
Gupta, Archit; Gupta, Mudita; Gupta, Jagdish
Bilateral involvement of the breast with tuberculosis is extremely rare. It most commonly affects young lactating multiparous females, although rarely it may be reported in prepubescent males also. We present a case of a 27-year-old nulliparous female who presented with a history of multiple pus discharging sinuses around both areolae and was diagnosed as a case of bilateral tubercular mastitis. Tubercular mastitis being a paucibacillary disease, diagnosis is often difficult. Treatment consists of antitubercular therapy with or without surgery..
Gültaşli, N; van den Hauwe, L; Bruneau, M; D'Haene, N; Delpierre, I; Balériaux, D
Primary solitary amyloidoma of Meckel's cave is rare, and a bilateral location is even more rare. To the best of our knowledge, only 12 cases in the literature have described such a primary lesion, including one case of bilateral involvement of Meckel's cave. We report here on the case of a 57-year-old woman presenting with pseudotumor masses involving both Meckel's caves and responsible for trigeminal neuropathy. The final diagnosis of amyloidoma was made on the basis of histological examination of surgical biopsy specimens.
Pandey, Sharad; Sharma, Vivek; Shinde, Neeraj; Sharma, Mukesh
Extradural hematoma (EDH) occurs in approximately 2% of all patients with head injuries. Bilateral EDHs account for 2–10% of all acute EDHs in adults but are exceedingly rare in children. Posterior fossa EDHs occurs in 5% of all cases of EDHs. EDHs in children are more frequently venous (from tears of a dural sinus or diploic veins) and consequently have a better prognosis than EDHs in adults. Once the diagnosis of BEH is confirmed, urgent surgical treatment should be considered. We are reporting such rare form of injury as bilateral occipital EDH with supratentorial extension in 12 years child following road traffic accident. PMID:26557174
Salonen, R; Paavola, P
Meckel syndrome (MKS) is a lethal syndrome with a central nervous system malformation, usually occipital meningoencephalocele, bilaterally large multicystic kidneys with fibrotic changes of the liver, and polydactyly in most cases. Additional anomalies are frequent. A common characteristic of the parenchymal changes of many organs is a proliferation of the stromal connective tissue and increase and dilatation of the associated epithelial ducts. Autosomal recessive inheritance is well confirmed and the gene locus has been mapped to chromosome 17q21-24 by genome wide linkage study. The locus was later refined to within a less than 1 cM region (17q22), in which most of the Finnish MKS patients share a common chromosomal haplotype suggesting one major and relatively old mutation. However, in most of the non-Finnish MKS families studied, this linkage could not be confirmed. The linkage studies provide evidence that more than one locus is involved in bringing about the combination of CNS malformations, cystic kidneys, and polydactyly, maybe even in typical cases of MKS. Prenatal diagnosis of MKS by vaginal ultrasound scan is possible from 11-12 weeks of pregnancy, especially in families where there is a known risk. In those families where linkage to 17q22 is established, prenatal diagnosis by DNA analysis is possible. Images PMID:9643292
Prasun, Pankaj; Pradhan, Mandakini; Goel, Himanshu
Fraser syndrome (OMIM 219000) is a rare, autosomal recessive disorder characterized by cryptophthalmos, cutanaeous syndactyly, malformations of the larynx and genitourinary tract, craniofacial dysmorphism, orofacial clefting, mental retardation and musculoskeletal anomalies. There is marked interfamilial clinical heterogeneity. However, there is strong phenotypic similarity and concordance of the degree of severity of the disease within a family. We report a family with two cases of Fraser syndrome with marked clinical heterogeneity. One case had lethal phenotype with bilateral renal agenesis, while the other had mild phenotype with normal kidneys. It has not been reported before and highlights the importance of careful screening of pregnancies in families with Fraser syndrome.
Gifford, René H; Driscoll, Colin L W; Davis, Timothy J; Fiebig, Pam; Micco, Alan; Dorman, Michael F
To compare speech understanding with bimodal hearing and bilateral cochlear implants (CIs). Within-subjects, repeated-measures. Speech understanding was assessed in the following conditions: unilateral hearing aid (HA) in the non-implanted ear, unilateral CI, bimodal (CI + HA), and bilateral CI. In addition, three participants had bilateral hearing preservation and were also tested with bilateral CIs and bilateral HAs (BiBi). Tertiary academic CI center. Eight adult sequential bilateral recipients who, despite achieving incredibly high performance with the first CI, self-selected for bilateral cochlear implantation. Bilateral cochlear implantation. Speech understanding for the adult minimum speech test battery as well as sentences in semidiffuse noise using the R-SPACE system. Bilateral CIs afforded significant individual improvement in a complex listening environment even for individuals demonstrating near perfect sentence scores with both the first CI alone as well as the bimodal condition. The 3 BiBi participants demonstrated additional significant benefit over the bilateral CI condition-presumably because of the availability of interaural time difference cues. These data suggest that, for noisy environments, adding a second implant can significantly improve speech understanding-even for high-performing unilateral CI with bimodal hearing. In diffuse noise conditions, bilateral acoustic hearing can yield even greater benefits beyond that offered by bilateral implantation.
Fabbro, M A; D'Agostino, S; Costa, L; Musi, L; Cappellari, F
Two brothers of normal not consanguineous parents, with bilateral intrabdominal cryptorchidism, were admitted to our Institution. Both children had short stature, limb and hand malformations and craniofacial patterns of Robinow syndrome. During the orchidopexy, bilateral epididymal and vasal abnormalities were found in both of them. This anomaly associated with Robinow syndrome has never been reported before. These two cases provides the Authors with the opportunity of reviewing clinical features, genetics and radiological patterns of this rare syndrome.
Ijaz, Mohsin; Sakam, Sailaja; Ashraf, Umair; Marquez, Jose Gomez
Patient: Male, 47 Final Diagnosis: Bilateral psoas abscess • acute lower extremity deep vein thrombosis • bilateral pulmonary embolism Symptoms: Progressive left leg swelling • productive cough with whitish sputum • right flank pain Medication: Antibiotics and anticoagulation Clinical Procedure: CT-guided percutaneous drain placement Specialty: Internal Medicine/Critical Care Objective: Unusual presentation Background: Psoas abscesses are a known cause of back pain, but they have not been reported as a cause of acute lower extremity thromboses and bilateral pulmonary emboli. We report a patient with bilateral psoas abscesses causing extensive pulmonary emboli through compression of the iliac vein. Case Report: A 47-year-old man presented with bilateral leg swelling over 4 weeks. Physical examination revealed a thin male with bilateral leg swelling, extending to the thigh on his left side. He had hemoglobin of 10.5 g/dl, leukocytosis of 16 000/ml, and an elevated D-dimer. A computed tomography (CT) angiogram of his chest showed extensive bilateral pulmonary emboli and infarcts. He remained febrile with vague flank pain, prompting a CT of his abdomen and pelvis that showed large, multiloculated, septated, bilateral psoas abscesses with compression of the left femoral vein by the left psoas abscess and a thrombus distal to the occlusion. Two liters of pus was drained from the left psoas abscess by CT-guidance, and although the Gram staining showed Gram-positive cocci in clusters, cultures from the abscess and blood were negative. A repeat CT showed resolution of the abscesses, and the drain was removed. He was discharged to a nursing home to complete a course of intravenous antibiotics and anticoagulation. Conclusions: Although the infectious complications of psoas abscesses have been described in the literature, the mechanical complications of bilateral psoas abscesses are lacking. It is important to assess for complete resolution of psoas abscesses through
Taba Taba Vakili, Sahar; Alam, Tausif; Sollinger, Hans
Loin pain hematuria syndrome is a rare disease with a prevalence of ∼0.012%. The most prominent clinical features include periods of severe intermittent or persistent unilateral or bilateral loin pain accompanied by either microscopic or gross hematuria. Patients with loin pain hematuria syndrome initially present with hematuria, flank pain, or most often both hematuria and flank pain. Kidney biopsies from patients with loin pain hematuria typically reveal only minor pathologic abnormalities. Further, loin pain hematuria syndrome is not associated with loss of kidney function or urinary tract infections. Loin pain hematuria syndrome-associated hematuria and pain are postulated to be linked to vascular disease of the kidney, coagulopathy, renal vasospasm with microinfarction, hypersensitivity, complement activation on arterioles, venocalyceal fistula, abnormal ureteral peristalsis, and intratubular deposition of calcium or uric acid microcrystals. Many patients with loin pain hematuria syndrome also meet criteria for a somatoform disorder, and analgesic medications, including narcotics, commonly are used to treat loin pain hematuria syndrome-associated pain. Interventional treatments include renal denervation, kidney autotransplantation, and nephrectomy; however, these methods should be used only as a last resort when less invasive measures have been tried unsuccessfully. In this review article, we discuss and critique current clinical practices related to loin pain hematuria syndrome pathophysiology, diagnosis, treatment, and prognosis.
Rubio Hernández, María Caridad; Díaz Prado, Yenia Ivet; Pérez, Suanly Rodríguez; Díaz, Ronald Rodríguez; Aleaga, Zaili Gutiérrez
Male breast cancer, which represents only 1% of all breast cancers, is occasionally associated with a family history of breast cancer. Sporadic male breast cancers presenting with another primary breast cancer are extremely rare. In this article, we report on a 70-year-old male patient with bilateral multifocal and synchronous breast cancer and without a family history of breast cancer. PMID:24319497
... disabilities of the right and left sides will be combined as usual, and 10 percent of this value will be added... extremities as a whole. Thus with a compensable disability of the right thigh, for example, amputation, and one of the left foot, for example, pes planus, the bilateral factor applies, and similarly...
... disabilities of the right and left sides will be combined as usual, and 10 percent of this value will be added... extremities as a whole. Thus with a compensable disability of the right thigh, for example, amputation, and one of the left foot, for example, pes planus, the bilateral factor applies, and similarly...
Dafotakis, M; Schiefer, J; Wiesmann, M; Mühlenbruch, G
The wrist drop, also called carpoptosis or drop hand, is a common clinical presentation in case of peripheral damage to the radial nerve. But what about the picture of a bilateral finger/wrist drop?! We report the case of a 61-year-old female patient who was admitted to the hospital for myocardial infarction. Subsequently she developed a right dominant bilateral wrist drop. Further neurological examination revealed a positive Wartenberg sign pointing towards a central motoric dysfunction. The following native cerebral CT scan demonstrated bilateral hypodense lesions in both hand knobs in the precentral gyri. Subsequent MRI confirmed acute cerebral infarction in these two but also several other, clinically silent, locations. Further diagnostic work-up revealed a hypokinetic cardiac apex suggesting cardiac embolism to be the cause for cerebral thrombembolism and the clinically leading symptom of right-dominant bilateral finger/wrist drop. Besides the case presentation also the differential diagnosis and clinical test for diagnostic work-up of wrist drops are presented and discussed.
Milla, E; Zografos, L; Piguet, B
Mycoplasma pneumoniae is an atypical bacterium that can cause a great variety of respiratory infections and be responsible for ocular involvement such as conjunctivitis, anterior uveitis and very rarely optic neuropathy. We report herein an additional case of bilateral optic disc swelling with profound visual loss following Mycoplasma pneumoniae pneumonia and review the world literature on the ocular manifestations associated with this pathogen.
Bhat, Dhananjaya I; Somanna, Sampath; Kovoor, Jerry ME
Agenesis and hypoplasia of the internal carotid artery (ICA) are rare congenital anomalies, occurring in less than 0.01% of the population. We report a rare case of bilateral hypoplasia of the ICA in a patient with post-traumatic subarachnoid hemorrhage. We describe the embryological development of the cerebral vasculature and present a review of literature. PMID:22223934
Sarabon, Nejc; Markovic, Goran; Mikulic, Pavle; Latash, Mark L
We analysed the effects of task symmetry during bilateral accurate force production tasks performed by the two feet. In particular, we tested a hypothesis that bilateral deficit would lead to higher indices of synergies defined as co-varied adjustments in the two forces across trials that reduced total force variability. The subjects produced steady-state force followed by a quick force pulse into the target. The two feet could be acting both into plantar flexion and into dorsiflexion (symmetrical tasks), or in opposite directions (asymmetrical task). We used the framework of the uncontrolled manifold hypothesis to quantify two variance components, one of which did not change total force (V UCM), while the other did (V ORT). Synergy indices during the asymmetrical task were higher than in either symmetrical task. The difference was due to higher V UCM (compared to the symmetrical plantar flexion task) or lower V ORT (compared to the symmetrical dorsiflexion task). The synergy index showed a drop (anticipatory synergy adjustment, ASA) starting 100-150 ms prior to the force pulse initiation. The ASA tended to be shorter and of a smaller magnitude for the asymmetrical task. This is the first demonstration of bilateral synergies during accurate force production by the legs. We conclude that bilateral deficit has no or weak effects on two-leg synergies. The results fit the earlier introduced scheme with two groups of neural variables defining average performance of a redundant system and patterns of co-variation among its elemental variables, respectively.
Kadlec, Adam O; Fridirici, Zachary C; Acosta-Miranda, Alex M; Will, Thomas H; Sakamoto, Kyoko; Turk, Thomas M T
To describe a cohort of bilateral stone formers with significantly different compositions between renal units. Patients treated for bilateral nephrolithiasis over a 4-year period (2007-2010) were identified. Stones were categorized by dominant (≥50%) mineralogical component. Patients with significant compositional differences between renal units (discordant stone formers) were compared to patients with a similar stone type in each kidney. Fifteen of the 59 bilateral stone formers (25.4%) were discordant stone formers with significant differences in stone composition between renal units. Forty-four of the 59 patients (74.6%) had the same stone composition on each side. Thirty percent of discordant stones had calcium phosphate as the dominant stone component. Discordant stone formers were younger, had better renal function, and tended to have a larger stone burden (p < 0.05). A significant minority of bilateral stone formers form a different type of stone in each kidney. Local or micro-environmental etiologies may explain this phenomenon and may also account for failure of preventive therapy in some patients.
Franch, J; Bertran, J; Remolins, G; Fontecha, P; Díaz-Bertrana, M C; Durall, I
A case of bilateral fibrotic contracture of the infraspinatus muscles in a five-year-old Belgian Shepherd dog is described. The dog was presented with progressive forelimb lameness with postural and gait abnormalities three months after an episode of overexertion. When walking, the lower part of both forelimbs swung in a lateral arc causing a circumduction movement and in the standing position, the dog showed elbow adduction with external rotation of the distal part of both front limbs. Orthopaedic examination revealed bilateral atrophy of both infraspinatus and supraspinatus muscles and restriction in the range of motion of both shoulders, especially when attempting abduction and flexion. No specific findings were observed in the shoulder or elbow radiographs but hyperechogenic areas were evident in the ultrasonographic examination of both infraspinatus muscles. A diagnosis of fibrotic contracture of both infraspinatus muscles was established and bilateral tenectomy of the insertion tendons of the infraspinatus muscles was performed. Complete recovery of the animal was achieved after the surgery, which was confirmed in a long-term follow-up (10 months). In conclusion, physical examination and ultrasonography allowed a proper diagnosis of the condition, and tenectomy of the infraspinatus muscles resulted in a complete recovery of the patient even with bilateral involvement.
Raj, K Mohan; Reddy, P Arun Subhash; Kumar, Vikram Chella
Angle closure glaucoma is one of the ophthalmic emergencies and treatment has to be given at the earliest. It is a rare complication of general anesthesia. A female patient underwent Hysterectomy under general anesthesia. Following this, patient developed bilateral angle closure glaucoma. This patient was treated with antiglaucoma medications followed by YAG laser iridotomy and patient regained vision.
Xie, Jun; Ann Heng, Pheng
In this paper, we propose an approach to diffuse color images based on the bilateral filter. Real image data has a level of uncertainty that is manifested in the variability of measures assigned to pixels. This uncertainty is usually interpreted as noise and considered an undesirable component of the image data. Image diffusion can smooth away small-scale structures and noise while retaining important features, thus improving the performances for many image processing algorithms such as image compression, segmentation and recognition. The bilateral filter is noniterative, simple and fast. It has been shown to give similar and possibly better filtering results than iterative approaches. However, the performance of this filter is greatly affected by the choose of the parameters of filtering kernels. In order to remove noise and maintain the significant features on images, we extend the bilateral filter by introducing an adaptive domain spread into the nonlinear diffusion scheme. For color images, we employ the CIE-Lab color system to describe input images and the filtering process is operated using three channels together. Our analysis shows that the proposed method is more suitable for preserving strong edges on noisy images than the original bilateral filter. Empirical results on both nature images and color medical images confirm the novel method's advantages, and show it can diffuse various kinds of color images correctly and efficiently.
Wolf, E; Lilling, M; Ferber, I; Marcus, J
A retrospective evaluation of vascular amputees, all over 55 years of age, found that 18 underwent bilateral lower limb amputation. The ages of patients ranged from 55 to 83 years, mean age at the time of second amputation was 65.9 years, 13 men and 5 women. Out of the 18 patients, 12 underwent bilateral below knee amputation (BK-BK), 3 below knee and above knee (BK-AK), and 3 bilateral above knee (AK-AK). Six patients (50%) of the 12 with BK-BK were fitted with prostheses. They therefore became users of two prostheses and have achieved a high functional level of rehabilitation despite a high mean age of 67.8 years. Five of these patients had been successful prosthetic users after the first leg amputation. The sixth patient underwent double BK amputation almost at the same time. He was fitted and rehabilitated with two prostheses simultaneously. Patients with BK-AK and AK-AK amputations had not been fitted with two prostheses. Deciding about prosthetic prescription and type of rehabilitation of elderly bilateral amputees is very difficult. Age alone is not a factor in success or failure of prosthetic rehabilitation. The type of rehabilitation for these patients is related mainly to the level of amputation, associated diseases and successful prosthetic use after the first leg amputation. Careful evaluation by a multidisciplinary team is the key for the right treatment decision and successful rehabilitation of this group of patients.
Jadhav, Ashutosh P.; Ducruet, Andrew F.; Jankowitz, Brian T.; Jovin, Tudor G.
Background Symptomatic bilateral internal carotid occlusive disease is a rare but potentially devastating entity. Medical therapy alone is associated with high rates of mortality and recurrent stroke. The optimal management of this disease remains poorly understood. Methods A retrospective review of a prospectively maintained database was conducted for patients who presented with an acute stroke in the setting of bilateral carotid occlusive disease between May and October 2013. Results We identified 3 patients. The admission National Institutes of Health Stroke Scale score ranged from 4 to 7. All patients had small- to moderate-sized infarcts in the anterior circulation on presentation. Angiography confirmed bilateral internal carotid occlusions with collateral filling via the posterior communicating artery and retrograde filling via external carotid artery supply to the ophthalmic artery. All patients were initially managed with permissive hypertension and anticoagulation followed by carotid angioplasty and stenting. At 1-year follow-up, all patients demonstrated a modified Rankin scale score of 0-1. Conclusions Carotid stenting may be a safe and effective therapy for patients presenting with symptomatic bilateral carotid occlusions. PMID:27051405
Murayama, K; Adachi-Usami, E
Two siblings with Leber's congenital amaurosis had bilateral macular colobomas, nystagmus, extinguished ERGs, and degenerative salt and pepper like changes in the fundus. They had non-recordable or non-meaningful visually evoked cortical potentials in response to both flash and pattern stimuli. The ophthalmic conditions were thought to be inherited as an autosomal recessive trait.
García, Elena; Sánchez, Raquel; Martínez, Guillermo; Bernal, Carmen; Calatayud, M; Partida, M; Hawkins, Federico
Many problems may arise when defining whether adrenal lesions are primary to the adrenal glands or represent other tissue, whether they are benign or malignant and whether they are functioning or nonfunctioning. Adrenal imaging complements the clinical and hormonal evaluation of these patients. We present a patient with lumbar pain and bilateral adrenal masses.
Jerome-D'Emilia, Bonnie; Suplee, Patricia D; D'Emilia, Ian
The rate of women choosing to have a bilateral mastectomy as a treatment for unilateral breast cancer has increased since the 1990s, particularly among younger women. This article describes a qualitative study that was conducted to explore this decision-making process.
Branson, Sara V; McClintic, Elysa; Yeatts, R Patrick
A 41-year-old woman with adenoid cystic carcinoma of the left lacrimal gland underwent extended left orbital exenteration and postoperative external beam radiation therapy. She presented 1 year postoperatively with contralateral right orbital involvement. The authors report a rare case of adenocystic carcinoma of the lacrimal gland with bilateral orbital involvement.
Wilms, G.E.; Baert, A.L.; Kint, E.J.; Pringot, J.H.; Goddeeris, P.G.
The computed tomographic (CT) features of bilateral adrenal tuberculosis are reported in two cases that demonstrate two typical different clinical and morphological manifestations of the disease. The incidence and CT appearance of adrenal tuberculosis are discussed, with emphasis on differential diagnosis.
Rivera, Cathleen M.; Grossardt, Brandon R.; Rhodes, Deborah J.; Brown, Robert D.; Roger, Véronique L.; Melton, L. Joseph; Rocca, Walter A.
Objective To investigate the mortality associated with cardiovascular diseases and the effect of estrogen treatment in women who underwent unilateral or bilateral oophorectomy before menopause. Design We conducted a cohort study with long-term follow-up of women in Olmsted County, MN, who underwent either unilateral or bilateral oophorectomy before the onset of menopause from 1950 through 1987. Each member of the oophorectomy cohort was matched by age to a referent woman from the same population who had not undergone any oophorectomy. We studied the mortality associated with cardiovascular disease in a total of 1,274 women with unilateral oophorectomy, 1,091 women with bilateral oophorectomy, and 2,383 referent women. Results Women who underwent unilateral oophorectomy experienced a reduced mortality associated with cardiovascular disease compared with referent women (hazard ratio [HR], 0.82; 95% confidence interval [CI], 0.67–0.99; P = 0.04). By contrast, women who underwent bilateral oophorectomy before age 45 years experienced an increased mortality associated with cardiovascular disease compared with referent women (HR, 1.44; 95% CI, 1.01–2.05; P = 0.04). Within this age stratum, the HR for mortality was significantly elevated in women who were not treated with estrogen through age 45 years or longer (HR, 1.84; 95% CI, 1.27–2.68; P = 0.001) but not in women treated (HR, 0.65; 95% CI, 0.30–1.41; P = 0.28; test of interaction, P = 0.01). Mortality was further increased after excluding deaths associated with cerebrovascular causes. Conclusions Bilateral oophorectomy performed before age 45 years is associated with increased cardiovascular mortality, especially with cardiac mortality. However, estrogen treatment may reduce this risk. PMID:19034050
Karthikeyan, V S; Dorairajan, L N; Kumar, S; Vijayakumar, A R; Ramesh, A; Ganesh Rajesh, N; Halanaik, D; Gupta, S
Pyelonephritis is defined as an inflammation of the kidney and renal pelvis. The diagnosis is usually clinical. Acute multifocal bacterial nephritis is a rare form of pyelonephritis that is more severe and sepsis is more common. We report a patient who presented with fever and right-sided abdominal pain associated with right flank tenderness, suggesting right acute pyelonephritis. Bilateral multifocal pyelonephritis was diagnosed on ultrasonography, radionuclide renal scintigraphy and computed tomography. However, owing to non-resolution of symptoms, a biopsy was performed, which showed bilateral papillary renal cell carcinoma (PRCC). PRCC is known to exhibit multicentricity. To our knowledge, a case of bilateral multicentric PRCC masquerading as bilateral multifocal pyelonephritis has not been reported in the English literature. This case highlights the need to be vigilant while treating patients with focal lesions of the kidney as an inflammatory condition lest a malignancy should be missed.
Karthikeyan, VS; Kumar, S; Vijayakumar, AR; Ramesh, A; Ganesh Rajesh, N; Halanaik, D; Gupta, A
Pyelonephritis is defined as an inflammation of the kidney and renal pelvis. The diagnosis is usually clinical. Acute multifocal bacterial nephritis is a rare form of pyelonephritis that is more severe and sepsis is more common. We report a patient who presented with fever and right-sided abdominal pain associated with right flank tenderness, suggesting right acute pyelonephritis. Bilateral multifocal pyelonephritis was diagnosed on ultrasonography, radionuclide renal scintigraphy and computed tomography. However, owing to non-resolution of symptoms, a biopsy was performed, which showed bilateral papillary renal cell carcinoma (PRCC). PRCC is known to exhibit multicentricity. To our knowledge, a case of bilateral multicentric PRCC masquerading as bilateral multifocal pyelonephritis has not been reported in the English literature. This case highlights the need to be vigilant while treating patients with focal lesions of the kidney as an inflammatory condition lest a malignancy should be missed. PMID:24992402
Eliçora, Sultan Şevik; Dinç, Aykut Erdem; Bişkin, Sultan; Damar, Murat; Bilgin, Ergin
Bilateral facial paralysis caused by bilateral temporal bone fracture is a rare clinical entity, with seven cases reported in the literature to date. In this paper, we describe a 40-year-old male patient with bilateral facial paralysis and hearing loss that developed after an occupational accident. On physical examination, House-Brackmann (HB) facial paralysis of grade 6 was observed on the right side and HB grade 5 paralysis on the left. Upon temporal bone computed tomography (CT) examination, a fracture line exhibiting transverse progression was observed in both petrous temporal bones. Our patient underwent transmastoid facial decompression surgery of the right ear. The patient refused a left-side operation. Such patients require extensive monitoring in intensive care units because the presence of multiple injuries means that facial functions are often very difficult to evaluate. Therefore, delays may ensue in both diagnosis and treatment of bilateral facial paralysis. PMID:26175920
Eliçora, Sultan Şevik; Dinç, Aykut Erdem; Bişkin, Sultan; Damar, Murat; Bilgin, Ergin
Bilateral facial paralysis caused by bilateral temporal bone fracture is a rare clinical entity, with seven cases reported in the literature to date. In this paper, we describe a 40-year-old male patient with bilateral facial paralysis and hearing loss that developed after an occupational accident. On physical examination, House-Brackmann (HB) facial paralysis of grade 6 was observed on the right side and HB grade 5 paralysis on the left. Upon temporal bone computed tomography (CT) examination, a fracture line exhibiting transverse progression was observed in both petrous temporal bones. Our patient underwent transmastoid facial decompression surgery of the right ear. The patient refused a left-side operation. Such patients require extensive monitoring in intensive care units because the presence of multiple injuries means that facial functions are often very difficult to evaluate. Therefore, delays may ensue in both diagnosis and treatment of bilateral facial paralysis.
Haut, Marc W.; Hogg, Jeffery P.; Marshalek, Patrick J.; Suter, Blair C.; Miller, Liv E.
We report a case of a 55-year-old man with ischemic lesions of the bilateral hippocampus and bilateral basal ganglia following a myocardial infarction during an episode of multiple drug use with subsequent anoxia requiring resuscitation. He presented for a neuropsychological evaluation with an anterograde amnesia for both explicit and procedural memory. There are two main points to this case, the unique aspects of the bilateral multifocal lesions and the functional, cognitive impact of these lesions. We hypothesize that his rare focal bilateral lesions of both the hippocampus and basal ganglia are a result of anoxia acting in synergy with his stimulant drug use (cocaine and/or 3,4-methylenedioxy-methamphetamine). Second, his unique lesions produced an explicit and implicit/procedural anterograde amnesia. PMID:28228745
Zhang, Yushi; Li, Hanzhong; Xiao, Jianchun; Zhou, Yi; Zhou, Zhien; Tong, Anli
Bilateral adrenal tumors are very uncommon in clinical practice and all originate from the same histology. We presented here a case report and literature review of bilateral adrenal tumors from different histology: pheochromocytoma in one side and adrenocortical adenoma in the other side. The patient was a 37 years old female suffered from Cushing's syndrome form 3 years. One year ago she was diagnosed as ACTH-independent Cushing's syndrome and received Laparoscopic adrenalectomy for right adrenal tumor which diagnosed as a pheochromocytoma by the pathological reports. After the operation, patient's clinical manifestation was not change, then half-year later the lab test showed no improvement in the blood biochemical parameters. Finally, CT detected a mass in left adrenal gland. Thereafter, this patient received Laparoscopic adrenalectomy for left adrenal tumor. The tumor was diagnosed as adrenocortical adenoma by the pathologists. One week after operation, the blood biochemical parameters became normal. In conclusion, bilateral adrenal tumors from different histology are very rare, adrenalectomy for both side tumors and preserving the normal adrenal glands is necessary.
Ritter, Merrill A; Harty, Leesa D; Davis, Kenneth E; Meding, John B; Berend, Michael
The rates of perioperative morbidity and mortality are areas of concern associated with simultaneous bilateral total knee replacement. The purpose of this paper was to compare the rates of morbidity and mortality and the clinical outcome in large groups of consecutive patients undergoing simultaneous bilateral total knee replacement, unilateral total knee replacement, or staged bilateral total knee replacement. A total of 6200 total knee replacements, performed in 3998 patients between 1983 and 2000, consisted of 2050 simultaneous bilateral, 1796 unilateral, and 152 staged bilateral total knee replacements. A review of each group was conducted to compare the rates of morbidity and mortality, the survival of the prosthesis, and the clinical outcome. Kaplan-Meier survival analyses were performed with failure defined as revision because of aseptic loosening and as patient death. Complications and Knee Society scores were compared throughout the fifteen-year follow-up period (average, 4.3 years of follow-up). The unilateral group had significantly lower Knee Society scores than the simultaneous bilateral group (p < 0.0001 up to twelve years, and p = 0.0067 at fifteen years) across all postoperative time-intervals. The percentage of patients who had thrombophlebitis was significantly higher in the simultaneous bilateral group (0.9%) than in the unilateral group (0.3%) (p = 0.0326). No significant differences were found with regard to prosthetic failure, cardiac complications, and the rates of death in the three groups. Ten years postoperatively, the simultaneous bilateral group had a significantly higher rate of patient survival than did the unilateral group (78.6% compared with 72.0%) (p = 0.0062). The significantly higher rate of thrombophlebitis in the simultaneous bilateral group compared with that in the unilateral group may represent a greater risk to those patients. However, we believe that when there are adequate indications for bilateral total knee replacement
Kumar, Jaswant; Dhammi, Ish Kumar; Jain, Anil K
Neglected bilateral congenital dislocation of knee is unusual. A 12 year old boy presented with inability to walk due to buckling of the knee. The symptoms were present since the child learnt walking. He preferred not to walk. Bilateral supracondylar femoral osteotomy was done at the age of 6 years. Patient had a fixed flexion deformity of both knees, 30° in the right (range of flexion from 30° to 45°) and 45° fixed flexion deformity in left knee respectively (range of flexion from 45° to 65°) when presented to us. The radiological examination revealed bilateral congenital dislocation of knee (CDK). No syndromic association was observed. He was planned for staged treatment. In stage I, the knee joints were distracted by Ilizarov ring fixators and this was followed by open reduction of both the knee joints in stage II. A bilateral supracondylar extension osteotomy was done 18 months after the previous surgery (stage III). The final followup visit at 4 years the patient presented with range of motion 5-100° and 5-80° on the right and left knee respectively with good functional outcome. The case is reported in view of lack of treatment guidelines for long standing neglected CDK in an adolescent child. PMID:24600070
Jamil, Ahmad Zeeshan; Rahman, Fawad Ur; Mirza, Khurram Azam; Iqbal, Wasim
We report a case of unilateral Brown-McLean syndrome (peripheral corneal oedema) with bilateral keratoconus. A 30 years old lady presented with decreased vision in her right eye for the last 2 years. There was no history of surgery or trauma. Patient had no systemic illness. There was peripheral concentric corneal oedema extending 2.5-3.5 mm from the limbus involving right eye. On topography, we found bilateral keratoconus. To the best of our knowledge, this combination of Brown-McLean syndrome and keratoconus has not been reported before.
Bakar, Ayman A.; Kamal, Naglaa Mohamed; Alsaedi, Abdulaziz; Turkistani, Reem; Aldosari, Dima
Abstract Rationale: Alström syndrome is an autosomal recessive disorder characterized by hearing loss, blindness, obesity, non-insulin dependent diabetes, and others. Patient concern: A 10 years old Saudi girl, who presented with diabetic ketoacidosis and found to have hearing loss and blindness. Diagnosis: Alström syndrome. Interventions: Multidisciplinary team approach, with echocardiography, hearing test, eye exam and genetic test for Alström syndrome. Outcomes: The patient has retinitis pigmentosa, bilateral hearing loss, double diabetes with weakly positive anti-insulin antibodies and DNA analysis showed novel mutation for Alström syndrome. Lessons: the combination of obesity, diabetes, hearing loss and blindness should alert the physician to test for Alström syndrome. PMID:28272210
Huertas, Andres; Watson, Robert; Villalpando, Carlos; Goldberg, Steven
A bilateral subtraction filter has been implemented as a hardware module in the form of a field-programmable gate array (FPGA). In general, a bilateral subtraction filter is a key subsystem of a high-quality stereoscopic machine vision system that utilizes images that are large and/or dense. Bilateral subtraction filters have been implemented in software on general-purpose computers, but the processing speeds attainable in this way even on computers containing the fastest processors are insufficient for real-time applications. The present FPGA bilateral subtraction filter is intended to accelerate processing to real-time speed and to be a prototype of a link in a stereoscopic-machine- vision processing chain, now under development, that would process large and/or dense images in real time and would be implemented in an FPGA. In terms that are necessarily oversimplified for the sake of brevity, a bilateral subtraction filter is a smoothing, edge-preserving filter for suppressing low-frequency noise. The filter operation amounts to replacing the value for each pixel with a weighted average of the values of that pixel and the neighboring pixels in a predefined neighborhood or window (e.g., a 9 9 window). The filter weights depend partly on pixel values and partly on the window size. The present FPGA implementation of a bilateral subtraction filter utilizes a 9 9 window. This implementation was designed to take advantage of the ability to do many of the component computations in parallel pipelines to enable processing of image data at the rate at which they are generated. The filter can be considered to be divided into the following parts (see figure): a) An image pixel pipeline with a 9 9- pixel window generator, b) An array of processing elements; c) An adder tree; d) A smoothing-and-delaying unit; and e) A subtraction unit. After each 9 9 window is created, the affected pixel data are fed to the processing elements. Each processing element is fed the pixel value for
Cunha, Burke A; Petelin, Andrew; Hage, Jean E
Bilateral anterior thigh pain may indicate bacteremia (Louria's Sign). We present a case of Ehrlichiosis due to Ehrlichia chaffeensis whose predominant presenting symptom was localized bilateral anterior thigh pain. Copyright © 2012 Elsevier Ltd. All rights reserved.
Arriola, Aileen Grace P; Bartlett, Edmund K; Zhang, Paul J; Cooper, Kumarasen; Naji, Ali; Roses, Robert E
We present a patient with giant bilateral perinephric masses favored to represent liposarcoma preoperatively. Bilateral renal involvement posed a clinical challenge; careful histologic assessment and surgical planning allowed preservation of renal function.
Goyal, R W; Ng, A B Y; Bale, R S
Gas gangrene is a rare and rapidly progressive process with the propensity for devastating consequences. We report the first case of bilateral gas gangrene of the hand following bilateral middle phalangectomy of the middle fingers.
Todo, Tsuyoshi; Alexander, Michael; Stokol, Colin; Lyden, Patrick; Braunstein, Glenn; Gewertz, Bruce
Cervical pain caused by the elongation of the styloid process (Eagle syndrome) is well known to otolaryngologists but is rarely considered by vascular surgeons. We report two patients with cerebrovascular symptoms of Eagle syndrome treated in our medical center in the past year. Case 1: an 80-year-old man with acromegaly presented with dizziness and syncope with neck rotation. The patient was noted to have bilateral elongated styloid processes impinging on the internal carotid arteries. After staged resections of the styloid processes through cervical approaches, the symptoms resolved completely. Case 2: a 57-year-old man presented with acute-onset left-sided neck pain radiating to his head immediately after a vigorous neck massage. Hospital course was complicated by a 15-minute transient ischemic attack resulting in aphasia. Angiography revealed bilateral dissections of his internal carotid arteries, with a dissecting aneurysm on the right. Both injuries were immediately adjacent to the bilateral elongated styloid processes. Despite immediate anticoagulation therapy, he experienced aphasia and right hemiparesis associated with an occlusion of his left carotid artery. He underwent emergent catheter thrombectomy and carotid stent placement, with near-complete resolution of his symptoms. Elongated styloid processes characteristic of Eagle syndrome can result in both temporary impingement and permanent injury to the extracranial carotid arteries. Although rare, Eagle syndrome should be considered in the differential diagnosis in patients with cerebrovascular symptoms, especially those induced by positional change.
Nowak, Albina; Göhner, Katja; Cohen, Clemens D
Ein 59-jähriger Spezialtiefbauarbeiter, ehemaliger Uranbergbauarbeiter, präsentierte sich mit Hämoptoe und asymmetrischen Arthritiden. Labortests ergaben Mikrohämaturie und anti-neutrophile zytoplasmatische Antikörper. Computertomographisch bestanden bilateral disseminierte Thorax-Rundherde. Thorakoskopische Lungenkeilresektion zeigte Granulome mit Anthrakose und Silikose-Material im nekrotischen Zentrum. Die Diagnose eines Caplan-Syndroms wurde gestellt. Die Beschwerden besserten sich unter der Steroid-Therapie. Weitere Abklärung der Mikrohämaturie erbrachte die Diagnose eines klarzelligen Nierenzellkarzinoms. Bei diesem Patienten mit «pulmorenalem Syndrom» war das Nierenzellkarzinom, das bei Minenarbeitern im Uranbergbau ebenfalls vermehrt auftritt, ursächlich für die Mikrohämaturie.
Duggal, H S; Jain, R; Sinha, V K; Nizamie, S H
Kluver-Bucy syndrome is a rare amalgamation of neurobehavioural signs and symptoms seen infrequently in humans following insult to bilateral temporal lobes. This report presents a case which along with emerging symptoms of Kluver-Bucy syndrome, developed Attention-Deficit/Hyperactivity Disorder (ADHD) consequent to viral encephalitis. The case highlights the presentation and management of this syndrome in a six-year-old girl with primary focus on the implications of Kluver-Bucy symptoms in current clinical practice involving neurobehavioural syndromes in children.
Yabuno, Yuto; Tosa, Mamiko; Iwakiri, Itaru; Nomoto, Shunichi; Kaneko, Mayuko; Kuwahara, Kousuke; Hyakusoku, Hiko; Murakami, Masahiro
We present a man with refractory leg ulcers, bilateral varicosis of the lower extremities, and Buerger disease. Autoimmune work-up was negative. However, chromosome analysis showed Klinefelter syndrome (48 XXY). Ulcerative lesions of the lower extremities are a complication of Klinefelter syndrome. To date, the pathogenesis of ulcers in Klinefelter syndrome has not been clarified, but several factors, such as abnormalities of fibrinolysis and prothrombotic states, might be involved. Our present case emphasizes the importance of considering Klinefelter syndrome in the differential diagnosis of a male patient with nonhealing ulcers of the lower extremities.
Huerva, Valentin; Sánchez, M Carmen
To report a case of CREST syndrome associated with juxtafoveolar telangiectasias (JT). Case report. Observational case report. A 64-year-old woman affected with CREST syndrome developed bilateral visual loss. Capillary dilatation and permeability changes in the outer retina were noticed during an angiographic study. Optical coherence tomography (OCT) showed thickening with loss of the foveal depression and inner lamellar cyst. The patient was diagnosed as stage 3, group 2A JT associated with CREST syndrome. Finding JT in association with CREST syndrome suggests a common pathophysiologic process.
Gifford, René H.; Driscoll, Colin L. W.; Davis, Timothy J.; Fiebig, Pam; Micco, Alan; Dorman, Michael F.
A comparison of bimodal hearing and bilateral cochlear implants (CIs) was completed using a within-subjects, repeated-measures study for eight adult sequential recipients who despite achieving incredibly high performance with the first CI, self-selected for bilateral implantation. Speech understanding was assessed with the minimum speech test battery (MSTB) as well as sentences in semi-diffuse noise using the R-SPACE™ system. Conditions included unilateral hearing aid (HA) in the non-implanted ear, unilateral CI, bimodal (CI+HA), and bilateral CI. Additionally, three participants had bilateral hearing preservation and were also tested with bilateral CIs and bilateral HAs (BiBi). All testing was completed in the bimodal hearing configuration and repeated at least six months following activation of the second CI. Bilateral CIs afforded significant individual improvement in a complex listening environment even for individuals demonstrating near perfect sentence scores with both the 1st CI alone as well as the bimodal condition. The 3 BiBi participants demonstrated additional significant benefit over the bilateral CI condition—presumably due to the availability of interaural time difference cues. These data suggest that for noisy environments, adding a second implant can significantly improve speech understanding—even for high performing unilateral CI with bimodal hearing. In diffuse noise conditions, bilateral acoustic hearing can yield even greater benefit beyond that offered by bilateral implantation. PMID:26164443
Iwasaki, Keita; Matsushita, Hiroshi; Murakami, Hideki; Watanabe, Kazushi; Wakatsuki, Akihiko
Meigs syndrome is a rare complication associated with ovarian fibromas. Although ovarian fibromas are rare in children, they are common in women with Gorlin syndrome after puberty. A 14-year-old girl with Gorlin syndrome was admitted to our hospital for ablation of basal cell carcinoma. A chest x-ray revealed pleural effusion. Ultrasonography revealed bilateral multinodular ovarian masses. Meigs syndrome associated with ovarian fibromas was considered. A laparotomy revealed bilateral ovarian masses, which were resected. Microscopically, the masses were composed of mitotically active fibroma and areas resembling hemangiopericytoma and luteinized thecoma. The pleural effusion disappeared soon after the surgery. Physicians should consider the possibility that pleural effusion might precede the diagnosis of ovarian fibroma in patients with Gorlin syndrome. Copyright © 2016 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.
Undabeitia, Jose; Liu, Brian; Pendleton, Courtney; Nogues, Pere; Noboa, Roberto; Undabeitia, Jose Ignacio
Although traumatic injury of the facial nerve is a relatively common condition in neurosurgical practice, bilateral lesions related to fracture of temporal bones are seldom seen. We report the case of a 38-year-old patient admitted to Intensive Care Unit after severe head trauma requiring ventilatory support (Glasgow Coma Scale of 7 on admission). A computed tomography (CT) scan confirmed a longitudinal fracture of the right temporal bone and a transversal fracture of the left. After successful weaning from respirator, bilateral facial paralysis was observed. The possible aetiologies for facial diplegia differ from those of unilateral injury. Due to the lack of facial asymmetry, it can be easily missed in critically ill patients, and both the high resolution CT scan and electromyographic studies can be helpful for correct diagnosis.
Anderson, N.; Lokich, J. )
Three patients developed bilateral breast cancer at 10 to 24 years after mantle irradiation for locally or systemically advanced Hodgkin's disease (HD). Four of the six cancers in the three patients were detected only by mammography. Pathologically, five of the cancers were intraductal carcinomas (four with an invasive component) with one being a lobular carcinoma. Five of the six lesions were Stage I pathologically without evidence of axillary nodal involvement. It is recommended that female patients with Hodgkin's disease who have received mantle irradiation as part of the therapy for their Hodgkin's disease and who are observed for 10 or more years after completion of mantle irradiation be considered at risk for the development of breast cancer. Such patients should be monitored appropriately by routine bilateral mammograms to increase the early detection of early stage lesions.
Makkar, Nikhil; Singh, Sumitoj; Paul, Surinder; Sandhu, Mandeep Singh; Kumar, Ashok
Fibroadenomas are benign lesions of breast commonly found in young age group. These focal tumours contain both mesenchymal and glandular tissue. Giant juvenile fibroma of breast is rare variant of fibroadenoma found usually in less than 20 years of age. They present with rapid enlargement of single or multiple, discrete, painless large nodule of breast. A 14-years-old premenarche girl presented with large bilateral breast lumps for two months. FNAC showed features of juvenile fibroadenoma. Breast conserving surgical excision of lumps was performed and histopathology confirmed the diagnosis of juvenile fibroadenoma. Giant juvenile fibroadenomas are characterised by rapid enlargement of encapsulated mass. The aetiology is unknown, although end-organ hypersensitivity to normal level of estrogen is postulated. We present a case of bilateral giant juvenile fibroadenoma for its rarity.
Dundar, Mehmet Akif; Derin, Serhan; Aricigil, Mitat; Eryilmaz, Mehmet Akif
Sudden bilateral hearing loss are seen rarely and the toxic substance exposure constitutes a small part of etiology. A Fifty-eight-year-old woman admitted to our clinic with sudden bilateral hearing loss shortly after chlorpyrifos-ethyl exposure. Otolaryngologic examination findings were normal. The patient had 40 dB sensorineural hearing loss (SNHL) on the right ear and 48 dB SNHL on the left ear. Additional diagnostic tests were normal. The conventional treatment for sudden hearing loss was performed. On the second week following organophosphate (OP) exposure the patient's hearing loss almost completely resolved. OP's are heavily used in agriculture and should be taken into consideration as an etiologic factor in sudden hearing loss.
Lee, Song Eun; Jung, Chaeyong; Ahn, Kyu Youn
Anatomical variations of the biceps brachii have been described by various authors, but the occurrence of bilateral asymmetric supernumerary heads is rare and has not been reported. We found three accessory heads of the biceps brachii muscle on right arm and an anomalous third head of biceps brachii on left arm. The third, fourth, and fifth heads of right arm originated from the body of humerus at the insertion site of coracobrachialis and inserted into the distal part of biceps brachii short head in order. The third head of left arm originated from humerus at the insertion site of coracobrachialis and combined with the distal part of biceps brachii and continued to the proximal part of common biceps tendon. Understanding the existence of bilateral asymmetric supernumerary heads of biceps brachii may influence preoperative diagnosis and surgery on the upper limbs. PMID:22025976