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Results 301 - 350 of 966
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Begum M - - 2011
The nosological status of olfactory reference syndrome (ORS) is a matter of debate and there is uncertainty as to what treatments are effective.MethodThe world literature was searched for reports of cases of ORS. Clinical, nosological and therapeutic information from cases meeting proposed diagnostic criteria for the disorder was summarized and ...
Brinar Marko - - 2010
The Budd-Chiari syndrome (BCS) is characterized by hepatic venous outflow obstruction involving the hepatic veins, inferior vena cava, or both. BCS has occasionally been reported in the literature as a very rare complication of ulcerative colitis. However, association of Crohn's disease (CD) and BCS is extremely rare with only a ...
Shah N - - 2010
To review the gastrointestinal mucosal histological features of biopsies from children with Shwachman-Diamond syndrome (SDS) examined at a single specialist centre. Search of a clinical database was performed to identify SDS cases and their gastrointestinal biopsies were reviewed for morphological parameters such as crypt:villous ratio, crypt hyperplasia and abnormal inflammatory ...
Ng Bradley K W - - 2010
A recent series of case reports has demonstrated a significant, previously unrecognized drug interaction between serotonin reuptake inhibitors (SRIs) and methylene blue (MB). The authors review the case reports and clinical audits relevant to this interaction and consider the diagnosis of serotonin syndrome in these cases. Articles were obtained from ...
Orcesi Simona - - 2010
Different pathologic processes (especially demyelination, hypomyelination, and combinations of these) may underlie leukoencephalopathies. Leukoencephalopathies pose a particular diagnostic problem when they occur in children. To seek associated, non-neurologic signs is of fundamental importance in hypomyelinating leukoencephalopathies, because these can help clarify the diagnostic picture. Two new types of leukoencephalopathy have ...
Yhim Ho-Young - - 2010
Klinefelter syndrome (KS) is the most commonly diagnosed X chromosome aneuploid syndrome among males. The association between hematologic malignancies such as non-Hodgkin lymphoma and leukemia and KS has been established recently on the basis of numerous case reports and a large cohort study. The risk of chronic myeloproliferative disease (MPD) ...
Kim Stephen - - 2010
Takotsubo cardiomyopathy is an increasingly recognized clinical syndrome of transient left ventricular dysfunction, commonly with apical ballooning, in the context of physical or emotional stress. Recently, an inverted-Takotsubo contractile pattern has been described with hypokinesis of the basal and mid-ventricular segments and sparing of the apex. We report a case ...
Lin Hsin-Ying - - 2010
Molluscum contagiosum is a common condition that often occurs in children, sexually active young adults, and immunocompromised patients. Generally, molluscum contagiosum lesions are self-limited. They often resolve spontaneously. We report a severe case of genital molluscum contagiosum in a patient with Sj?gren syndrome. Her vulvar lesions responded to topical 5% ...
Boezaart André P - - 2010
Neurogenic thoracic outlet syndrome (NTOS) is an oft-overlooked and obscure cause of shoulder pain, which regularly presents to the office of shoulder surgeons and pain specialist. With this paper we present an otherwise healthy young female patient with typical NTOS. She first received repeated conservative treatments with 60 units of ...
Bilgic Serkan - - 2010
A 20-year-old man with bilateral absence of patella, thinness of the left femoral neck, femoral and tibial shaft was reported. This clinical presentation has not been reported in the English language literature. We propose that the unusual association observed in our patient may represent a distinguishing clinical presentation from previously ...
Jakobiec Frederick A - - 2010
PURPOSE: To describe a patient with 2 ipsilateral supernumerary caruncles and to determine if they are predictive of associated abnormalities. DESIGN: Retrospective and interventional clinicopathologic study with a critical review of the literature over the past 100 years. METHODS: Assessment of clinical features and histopathologic findings in paraffin-embedded tissue sections ...
Wei J - - 2010
Severe hyponatraemia and syndrome of inappropriate antidiuretic hormone secretion (SIADH) is a rare but fatal complication following stem cell transplantation (SCT). This case report details a patient with early-onset SIADH after allogeneic haematopoietic SCT (allo-HSCT) and reviews the literature on risk factors for the development of this condition. The patient, ...
Desai Neeraj R - - 2010
Four cases of coccidioidomycosis, diagnosed in New Orleans, are described to illustrate the varied clinical presentation of this infection. The first is an immunocompromised elderly patient presenting with a cavitary lung lesion after travel to Utah. The second, a young immunocompetent patient presenting with acute respiratory distress syndrome after moving ...
Keaton Amelia A - - 2010
Holoprosencephaly (HPE) and ectrodactyly represent congenital malformations of the developing forebrain and developing digits, respectively. The combination of these conditions is rare, with only 15 cases known to date (12 previously reported, and 3 new cases described here). While the findings in these patients overlap with previously described genetic conditions, ...
Raam Manu S - - 2010
Holoprosencephaly (HPE) and craniosynostosis are separate conditions that have occasionally been observed to occur simultaneously in the same patient. Here, we compile patients with both conditions who have been documented in the literature thus far; moreover, we report on two additional siblings who have not been previously described. We also ...
Weeks David F - - 2010
Lemierre Syndrome (LS) is relatively rare, and its clinical features are potentially confusing. Without proper therapy, LS is associated with significant morbidity and is potentially fatal. Recognition of the imaging features of LS in the chest and the neck may permit a timely diagnosis and lead to prompt institution of ...
Boateng Akwasi Afriyie - - 2010
Refeeding syndrome (RFS) represents a group of clinical findings that occur in severely malnourished individuals undergoing nutritional support. Cardiac arrhythmias, multisystem organ dysfunction, and death are the most severe symptoms observed. As the cachectic body attempts to reverse its adaptation to the starved state in response to the nutritional load, ...
Epstein Michael S - - 2010
This paper examines specific cases in the literature where analysts using spectroscopic instrumentation report elemental concentrations that agree with information values reported in reference material certificates that are subsequently found to be incorrect.
Noori Feroz - - 2010
Mounier-Kuhn syndrome is a rare clinical entity. It was described in 1932 to refer to the presence of tracheobronchomegaly. The clinical presentation is variable and it can occur in several different age groups. We present the case of a young man who was admitted to the hospital for an asthma ...
Katayama Ichiro - - 2010
Annular erythema has been recognized to be a specific, cutaneous manifestation associated with Sjögren's syndrome. Based on a search of the literature up to 2007, annular erythema with Sjögren's syndrome (AESS) preferentially occurs in Asian but not in Western populations. However, the precise clinical course and standard regimen for the ...
Wegener Susanne - - 2010
Inflammatory myopathies such as dermatomyositis and polymyositis are well-recognized paraneoplastic syndromes. Little is known, however, about necrotizing myopathies in association with cancer. We here describe a case of paraneoplastic necrotizing myopathy with a mild inflammatory infiltrate in a patient with adenocarcinoma. After the rapid development of a severe, disabling muscle ...
Ulusoy Sükrü - - 2010
In addition to displaying geographic variation, focal segmental glomerulosclerosis (FSGS) has become the commonest cause of the nephrotic syndrome seen in adults in recent years. Secondary FSGS in particular, is observed when glomerular workload is increased. Polycythemia vera (PV) is a hematological disease characterized by abnormal proliferation in the erythroid ...
Seth Rajeev K - - 2010
PURPOSE: To report the case and OCT findings of a case of high altitude retinopathy (HAR). METHODS: Case report and review of literature. RESULTS: HAR is part of the clinical syndrome of high altitude illness, which includes acute mountain sickness and high altitude cerebral edema. A patient presented with decreased ...
Kharfi Monia - - 2010
Peeling skin syndrome (PSS) is a rare form of ichthyosis with a probable autosomal recessive inheritance that exhibits superficial, painless, continual, or seasonal cutaneous exfoliation. The syndrome generally appears at birth or in infancy. We report a case of generalized PSS and provide a literature review. A 34-year-old woman reported ...
Lekoubou Alain - - 2010
Holmes tremor is a rare symptomatic movement disorder. Currently suggested pathophysiological mechanisms of the disease are mostly derived from stroke cases. Although rare, cerebral toxoplasmosis may strengthen the pathophysiologic mechanism of disease. A case of Holmes tremor secondary to cerebral toxoplasmosis in an AIDS patient is presented. A relevant literature ...
Bassareo Pier Paolo - - 2010
Alport syndrome (AS) is a rare inherited disorder characterized by an inflammation of the kidneys and damage to the glomerular capillaries, ultimately leading to renal failure at an early age. To date, rare reports of cardiac involvement in AS have been described, due in the majority of cases to the ...
Roy Kaushik - - 2010
Spinal sarcoidosis represents a rare subgroup of neurosarcoidosis. Most spinal sarcoid lesions are intramedullary, and only a few cases of Intradural Extramedullary (IDEM) sarcoidosis have been reported till date.A thirty years-old female patient with intradural extramedullary sarcoid lesion in the cervico-dorsal spinal canal (C7-D1) without any systemic involvement of sarcoidosis ...
Gebere-Michael Sisay Gizaw - - 2010
BACKGROUND: Cervical spondylotic amyotrophy (CSA) is considered a syndrome of (1) unilateral upper extremity weakness and atrophy, (2) affecting either the proximal or distal musculature, (3) without sensory impairment or lower extremity dysfunction. AIMS OF STUDY: The authors report a novel case of bilaterally symmetric CSA with blurring of the ...
Avadhani Ashwin - - 2010
BACKGROUND CONTEXT: Transverse sacral fracture in pediatric patients is extremely uncommon with only nine cases reported in literature so far. PURPOSE: The purpose of this study was to heighten awareness and treatment options of a rare injury of traumatic pediatric transverse sacral fracture with cauda equina syndrome. STUDY DESIGN: This ...
Manea Elena Maria - - 2009
Pearson syndrome is a multiorgan mitochondrial cytopathy that results from defective oxidative phosphorylation owing to mitochondrial DNA deletions. Prognosis is severe and death occurs in infancy or early childhood. This article describes 2 cases with a severe neonatal onset of the disease. A review of the literature reveals the atypical ...
Agarwal N - - 2009
Liver hydatid disease causes significant morbidity but portal hypertension is a rare complication. The mechanism may be pre-hepatic, hepatic, or post-hepatic. Echinococcus granulosus or E. alveolaris may be involved; the latter is associated with infiltration and liver failure. A 13-year-old girl presented with two large unilocular liver hydatids complicated by ...
Noor-Fadzilah Z - - 2009
Idiopathic myelofibrosis occurs predominantly in older adults. It is very rarely seen in children. We describe a 3-year-old girl with Down's syndrome who presented with recurrent chest infections associated with anaemia and easy bruising. There was mild hepatosplenomegaly. Full blood picture revealed pancytopaenia with leucoerythroblastosis with absence of circulating blast ...
Udayakumaran Suhas - - 2010
INTRODUCTION: Chronic herniation syndromes other than tonsillar herniation are not well-recognized. Transtentorial uncal herniation in its chronic form has been reported in only few case reports (Horowitz et al., J Neuroimaging 12:78-79, 2002; Naidich et al., Radiology 158:431-434, 1986; Ng and Valiante, J Clin Neurosci 16:944, 2009; Ng and Valiante, ...
Peippo Maarit - - 2009
In 1954, Weismann-Netter and Stuhl described three sporadic adults and a mother and her three children with short stature and congenital anterior bowing of lower legs [Weismann-Netter and Stuhl (1954); Presse M??d 62:1618-1622]. They named the condition "toxopachyost??ose diaphysaire tibio-p??roni??re," which presently is known as Weismann-Netter syndrome (WNS) (OMIM 112350). ...
Fraser Stuart - - 2009
OBJECTIVE: To review the current evidence for the signs and symptoms of cauda equina syndrome (CES). DATA SOURCES: Relevant literature sourced through Medline, Embase, and CINAHL using the key search words "cauda equina syndrome" combined with "definition," "clinical presentation," "signs and symptoms," "pathology," and "etiology." STUDY SELECTION: Not applicable. DATA ...
Dutra L??via Almeida - - 2009
INTRODUCTION: Sjogren-Larsson syndrome (SLS) is characterized by the triad of ichthyosis, mental retardation, and spastic diplegia or quadriplegia. The hallmark of SLS is ichthyosis. We report a case and review the major differential diagnosis of SLS. CASE REPORT: A 21-year-old woman presented with seizures, mental retardation, spastic diplegia, and ichthyosis ...
Thakar Alok - - 2009
We report on the clinical syndrome of delayed cerebrospinal fluid leak following septoplasty. We describe 2 such cases that we treated, and 1 other case described in the literature. A review of these 3 cases indicates a characteristic clinical and radiologic presentation and a consistent site of cerebrospinal fluid leak. ...
Rahman N - - 2010
The formation of renal calculi secondary to enteric hyperoxaluria is rare in the paediatric population. We present the case of an 8-year-old boy who had short bowel syndrome resulting in enteric hyperoxaluria which led to the development of urolithiasis and bilateral ureteric strictures, both of which resolved with medical management. ...
Bosman T T Department of Neurology, Leiden University Medical Centre; Leiden, The Netherlands - - - 2009
Parry-Romberg syndrome (PRS) is a rare acquired syndrome consisting of progressive hemiatrophy of the face.We present a child with PRS and progressive neurological deficit caused by a giant intracranial aneurysm and reviewed the literature concerning all intracranial abnormalities in patients with PRS.A literature search identified 27 articles reporting on 88 ...
Nowak L A - - 2009
OBJECTIVE: Dementia in retired boxers, also referred to as "dementia pugilistica" (DP), is usually attributed to repeated concussive and subconcussive blows to the head. We report the case of a former world boxing champion whose progressive cognitive decline could be ascribed to DP, cerebral infarcts and Wernicke-Korsakoff syndrome. This case ...
Halpern James - - 2009
We report on an 18-month-old boy with a typical presentation of Sweet syndrome following an upper respiratory tract illness. No evidence of hematologic malignancy was found and he was successfully treated with oral prednisolone. A comprehensive literature review has summarized the features of pediatric Sweet syndrome from 66 reported cases. ...
Baban Anwar - - 2009
Poland syndrome (PS) has been described as unilateral pectoral muscle deficiency variably associated with ipsilateral thoracic and upper limb anomalies. Bilateral hypoplasia/aplasia of the pectoralis muscle and upper limb defects in association with variable thoracic muscles, chest wall deformities and lower limb defects have been infrequently reported in the literature. ...
Wilbrink Leopoldine A - - 2009
Trigeminal autonomic cephalgias (TACs) are characterized by frequent, short-lasting headache attacks with ipsilateral facial autonomic features. They include cluster headache, paroxysmal hemicrania, and short-lasting unilateral neuralgiform headache attacks with conjunctival injection and tearing. The pathogenesis of TACs is largely unknown, but many case reports in the literature suggest that TACs ...
Kim Seong-Kyu - - 2009
Polyfibromatosis syndrome is a rare disease entity that is characterized by various clinical features such as palmar, plantar, and penile fibromatoses, keloid formations of the skin, and erosive arthropathy. Its precise pathophysiology or etiology remains unclear. In addition to distinctive diverse skin manifestations, patients with polyfibromatosis have been previously reported ...
Edelman David A - - 2010
The very unusual association between herpes zoster and Ogilvie syndrome has received scant attention in the published literature. This review discusses the published experience since 1950 and attempts to increase clinical awareness about the co-existence of both conditions. An 84-year-old male patient affected by herpes zoster presented with advanced acute ...
Obidike E O - - 2009
INTRODUCTION: Nephrotic syndrome is a chronic renal disease that can lead to end stage renal disease. There are different histological types with global variations in frequency. Literatures reviewed showed that the African variant is less likely to be minimal change variant. No clear treatment protocol for it has been most ...
Roganović Jelena - - 2009
The case of a 2-month-old female infant with PHACES syndrome is reported. PHACES represents a broad spectrum of congenital anomalies, including the following primary features: posterior fossa brain malformations, large facial hemangiomas, arterial anomalies, cardiac defects and aortic coarctation, eye abnormalities, and ventral developmental defects. The literature on this rare ...
Corradi Domenico - - 2009
Churg-Strauss syndrome (CSS) is a rare small- or intermediate-vessel necrotizing vasculitis typically characterized by asthma, lung infiltrates, necrotizing granulomas, and hypereosinophilia. In this report, we describe the case of a 35-year-old woman who, during her third trimester of pregnancy, developed dyspnea and, after delivery, severe cardiac failure which required heart ...
Ovadia S - - 2009
Churg-Strauss syndrome (CSS) is a rare multisystem autoimmune disease characterized by diffuse eosinophilic infiltration and necrotizing vasculitis. There are typical manifestations of longstanding rhinosinusitis and polyposis but otological manifestations are rare and characterized by dense aural discharge, granulomatous eosinophilic infiltrate in the mastoid and middle ear with conductive hearing loss, ...
Adelowo O O - - 2009
Five cases of secondary anti-phospholipid syndrome (APS) are presented and literature reviewed. Pregnancy loss was the most common presentation but neurologic manifestations are also seen. IgG ACA was more commonly seen than IgM ACA. Although APS has been infrequently reported in black Africans, an awareness of this condition is needed ...
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