Search Results
Results 301 - 350 of 978
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Daskalakis George - - 2010
We report a case of a woman with Gitelman syndrome who presented to our hospital mainly due to hyperemesis. Following her admission, intravenous potassium and magnesium supplementation was commenced to counter the observed hypokalemia and hypomagnesemia. Hyperemesis receded and although serum potassium remained low, she became asymptomatic. Oral potassium and ...
Billiard Michel - - 2011
Based on 339 cases this review identifies, quantifies and compares 4 clinical forms of recurrent hypersomnia (1) Kleine-Levin syndrome (KLS) (239 cases), (2) Kleine-Levin syndrome without compulsive eating (KLS WOCE) (54 cases), (3) Menstrual related hypersomnia (MRH) (18 cases) and Recurrent hypersomnia with comorbidity (RHC) (28 cases). A second part ...
McPhillips A - - 2010
Synovitis, acne, pustulosis, hyperostosis, osteitis (SAPHO) syndrome is a rare group of sterile, inflammatory osteoarticular disorders classically associated with skin manifestations. The etiology is unknown but probably involves genetic, infectious, and immunological components. The characteristic feature of the disease is found in the bone lesions, which typically involve the anterior ...
Odi Temitope O - - 2010
Persistent Mullerian duct syndrome is a rare form of internal male pseudohermaphroditism, in which Mullerian duct derivatives (uterus and fallopian tubes) are present in a genotypic (46XY) and phenotypic male. Over 150 cases have been reported, mainly from outside the African setting. This article presents an unexpected case encountered in ...
Alvarez Maestro Mario - - 2010
To report a new case of bladder schistosomiasis. A 21-year-old patient came to our consultation with gross hematuria several weeks before, existing reddish lesions in the cystoscopy that suggested the existence of an atypical bladder tumor. After intense blood and urine test, ultrasonography and intravenous urography, transurethral resection of bladder ...
Bruno Oscar D - - 2010
To describe the corticotropin response to long-term octreotide or cabergoline administration in a patient with ectopic corticotropin secretion who underwent adrenalectomy. We describe the clinical, radiologic, and biochemical findings of the study patient over the course of 18 years. A 40-year-old woman was evaluated for Cushing syndrome. On the basis ...
Joseph Leon J - - 2011
Air leak syndrome represents a common set of complications of ventilated premature neonates and includes pneumothorax, pneumomediastinum, pulmonary interstitial emphysema, and pneumatocele. Unilateral intubation is an infrequently utilized treatment option. We report our experience of three cases of air leak syndrome in neonates, each treated with unilateral intubation, including two ...
Rodrigues Carlos Ewerton Maia - - 2011
To analyze the clinical, radiologic, therapeutic, and developmental characteristics of transverse myelitis (TM) and antiphospholipid syndrome (APS). We systematically searched English, Spanish, and Japanese articles on the subjects of TM and APS that had English abstracts in PubMed from 1966 to 2010. In addition, we reported on 4 patients with ...
Picchietti Matthew A - - 2010
A substantial literature characterizes pediatric restless legs syndrome (RLS), which occurs in about 1.9% of individuals between 8 and 18years of age. Diagnostic interview techniques and an updated inventory of pediatric RLS mimics are presented. Evidence for comorbidity of pediatric RLS with attention-deficit/hyperactivity disorder, depression, and anxiety is reviewed as ...
Lau Edmund M T - - 2010
Spontaneous resolution of hepatopulmonary syndrome (HPS) without liver transplantation or improvement in the underlying liver disease has rarely been reported in the literature. Increased endogenous production of nitric oxide has been implicated in the pathogenesis of HPS. We report the case of a 50-year-old man with hepatitis C cirrhosis who ...
Yildirim Ibrahim - - 2010
Pelvic kidney is the most common type of renal ectopia. These abnormally positioned kidneys are often clinically asymptomatic. However, they are prone to urinary infection, stone formation and trauma. Admitted patients often complain of lower abdominal pain and urinary infection. Pelvic kidneys may also lead to misdiagnosis when it is ...
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 ...
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