Search Results
Results 451 - 500 of 966
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Sharma Vikas - - 2006
Acrokeratosis paraneoplastica of Bazex is a rare syndrome. This condition is a distinct skin marker of supra-diaphragmatic neoplasia. This syndrome is important because the cutaneous findings preceed the onset of symptoms referable to the underlying neoplasm by several months in majority of the cases. We report here a case of ...
Ozyurek Hamit - - 2005
Reversible posterior leukoencephalopathy syndrome is characterized clinically by headache, abnormalities of mental status and visual perception, and seizures. Despite its diverse causes, common precipitating factors are defined as abrupt elevations of blood pressure, renal decompensation, fluid retention, and immunosuppressive therapy. We report three children with reversible posterior leukoencephalopathy syndrome presenting ...
Hathursinghe H R - - 2006
Kawasaki syndrome is an acute, self-limiting vasculitis that occurs mainly in children. The disorder is difficult to diagnose, a problem compounded by the lack of a specific diagnostic test. If the condition is unrecognised or treated sub-optimally, there is a 25% risk of developing serious cardiovascular complications. We report the ...
Vaccaro Mario - - 2005
Kabuki make-up syndrome (KMS; OMIM#147920) is a multiple congenital anomalies/mental retardation syndrome of unknown cause, first described independently by Niikawa and Kuroki. It is characterized by a peculiar facial appearance, mild to moderate mental retardation, skeletal abnormality, joint laxity, short stature, and unusual dermatoglyphic patterns. Several additional malformations (eg, cleft ...
Amornfa Jiraphorn - - 2005
In the present paper the authors examine two cases of Currarino syndrome and review the existing literature on the disease. Both cases presented with chronic constipation. The first concerns a two year old male born with anorectal stenosis and diagnosed with Currarino syndrome when scimitar sacrum and anterior meningocele were ...
Patel R - - 2006
Neurocysticercosis (NCC) remains a major public health problem in developing countries as it is the most common helminthic infection of the central nervous system. Clinical manifestations are non-specific and pleomorphic. Case reports on uncommon presentations of NCC are few. We report six interesting cases of NCC with unusual clinical presentation ...
Muangpaisan Weerasak - - 2005
The term "alien hand syndrome (AHS)" comprises many clinical signs of which the common features are the involuntary motor movement of the affected limb and the denial of limb ownership. It can result from several diseases involving corpus callosum or medial frontal cortex. Two major types of AHS were previously ...
Ozel S Kerem - - 2005
A case of Horner syndrome diagnosed during the follow-up after major thoracic trauma is presented in this report. A 10-year-old boy was admitted to the emergency service with severe thoracic trauma with left clavicular and first rib fracture after a traffic accident. During the follow-up, myosis and ptosis were recognized ...
Karabouta Zacharoula - - 2005
Toddlers commonly present to medical services with non-specific symptoms. The presence of refusal to walk and nocturnal waking with crying should alert clinicians to the possibility of discitis. Features that may alert clinicians to the diagnosis of discitis in young children are reviewed.
Chan Kar Mun - - 2005
Dubowitz syndrome is a rare condition in which the affected individual presents with dysmorphic facial features and manifests growth retardation. Although the condition is well reported in the medical literature, the dental manifestations have not been discussed in great detail. Some of the dental features reported include macrodontia, hypodontia, delayed ...
González-de Dios Javier J Departamento de Pediatría, Hospital Universitario San Juan, Universidad Miguel Hernández, Alicante, - - 2005
The Cochrane Collaboration provides growing and readily accessible resources to help ensure that medical decision-making is based on detailed, methodical, and up-to-date reviews of the best available evidence. We analyzed systematic reviews in the field of pediatric cardiology published by the Cochrane Collaboration's 50 Collaborative Review Groups. We found a ...
Adam Margaret P - - 2005
The Marshall-Smith syndrome (MSS) is a distinct malformation syndrome characterized by accelerated skeletal maturation, relative failure to thrive, respiratory difficulties, mental retardation, and unusual facies, including prominent forehead, shallow orbits, blue sclerae, depressed nasal bridge, and micrognathia. At least 33 cases have been reported in the literature, mostly as single ...
Chiang Jy-Ming - - 2006
BACKGROUND: Although the clinicopathologic features of solitary rectal ulcer syndrome (SRUS) are well documented, the heterogeneous endoscopic appearance of lesions that the syndrome produces and its rare incidence may make for clinical confusion. METHODS: Together with a literature review, we describe the variety of lesions experienced in our hospital with ...
Soultanian Charlotte - - 2005
This paper reviews all reports of Cotard's syndrome (délire de négation) in adolescents and young adults and summarizes four consecutive cases seen at our institution during the past 10 years. Cotard's syndrome occurs infrequently in young people (19 cases have been reported so far, including a 15-year-old boy who died ...
Montero-Odasso Manuel - - 2005
BACKGROUND: Diogenes syndrome (DS) is characterized by extreme self-neglect, domestic squalor, and social withdrawal. Despite having been described decades ago, it is still difficult to persue a correct diagnosis in primary care clinics. METHODS: This paper reports a case of an elderly man with extreme self neglect and an abnormal ...
Zielińska-Kaźmierska Bogna - - 2005
INTRODUCTION: Encephalocraniocutaneous lipomatosis is a rare congenital disorder characterized by an abnormal development of adipose tissue, and is of unknown pathogenesis. Catherine Haberland and Maurice Perou first diagnosed this disorder in 1970. To our knowledge, approximately 25 patients have been reported with this diagnosis but so far, only 1 patient ...
Wilder-Smith E P V - - 2005
INTRODUCTION: To characterise a homogeneous group of patients with new-onset refractory status epilepticus (NORSE syndrome). MATERIALS AND METHODS: This is a descriptive, semiprospective review of all cases of NORSE syndrome seen between 2000 and 2004 at a tertiary care public hospital in Singapore. A review of the literature was performed ...
Uthman Imad - - 2005
The catastrophic antiphospholipid syndrome (CAPS) is a life-threatening sub-entity of the antiphospholipid syndrome (APS) resulting in multiorgan failure and a mortality rate that may reach 50%. The optimal treatment regimen for CAPS is unknown. To evaluate the benefit of therapeutic plasma exchange (TPE) therapy in CAPS, we undertook a computer-assisted ...
Shaw-Smith Charles - - 2005
We report a case of Feingold syndrome with oesophageal atresia and microcephaly. Marked short stature was present at the age of 9 years. Although short stature has not previously been commented upon as a feature of this syndrome, a review of the literature indicates that it has occurred in several ...
Besada Eulogio - - 2005
BACKGROUND: This article documents a case of plateau iris syndrome and provides a review of the current concepts regarding the pathogenesis, diagnosis, and management of this condition. CASE REPORT: A patient who had patent peripheral iridotomies O.D. and O.S. to treat previous episodes of acute angle closure came to clinic ...
Arora Sandeep - - 2005
Reiter's syndrome has characteristically been described in young males and presents with a triad of urethritis, conjunctivitis and arthritis. Reiter's syndrome has been known to affect children, although they usually do not manifest with the typical triad. Only a few such cases have been reported and these have described males ...
Fabbri Lea Paola - - 2005
BACKGROUND: Wolfram syndrome (WS) is a rare, autosomic recessive genetic disorder. The mortality rate of WS is about 65% before 35 years of age. It presents diagnostic challenges in the clinical practice due to its incomplete characterization. This report represents the first case of undiagnosed Wolfram syndrome in a patient ...
Bellon-Harn Monica L - - 2005
Prader-Willi Syndrome (PWS) is reported in 1 in 10,000-15,000 individuals. Unfortunately, many cases are missed due to clinicians' lack of familiarity with the syndrome as well as clinical and laboratory diagnostic criteria. Although common clinical characteristics are reported, variety exists in the nature and severity of dysfunction associated with PWS. ...
Kluger M T - - 2005
BACKGROUND: Irrigation of closed body spaces may lead to substantial perioperative fluid and electrolyte shifts. A syndrome occurring during transurethral resection of prostate (TURP), and a similar syndrome described in women undergoing transcervical endometrial ablation (TCEA) are both characterised by a spectrum of symptoms which may range from asymptomatic hyponatraemia ...
Matheus Claudio de Oliveira Cde - - 2005
Restorative proctocolectomy with anastomosis of an ileal pouch to the anal canal is a new and rare cause for triggering the syndrome of duodenal compression by the superior mesenteric artery. Restorative proctocolectomy requires assessment of the position of the duodenum in relation to aortomesenteric constriction to avoid the occurrence of ...
Siebert Joseph R - - 2005
Individuals with holoprosencephaly (HPE) and limb reduction defects have been ascribed historically to a variety of syndromes with overlapping phenotypic features. As such, these patients are challenges for clinicians and researchers alike. In an effort to better understand this association, we reviewed our autopsy records and identified five cases of ...
Pereira C M - - 2005
Peutz-Jeghers syndrome (PSJ) is a relatively rare but well-recognized condition, with a prevalence of approximately one in 120,000 births in the USA. It is generally inherited as an autosomal dominant trait, although 35% of cases are new mutations. This disorder is characterized by melanocytic macules on the hands, feet, peri-oral ...
Courtens Winnie - - 2005
We report on a male newborn with a rarely described congenital limb deficiency syndrome consisting of shortening and anterior bowing of the right lower limb at the distal third of the tibia with associated overlying soft tissue dimpling, oligodactyly of the right foot, and a left-sided oligosyndactyly of the hand. ...
Santos de Oliveira Ricardo - - 2006
We report three patients with a history of maternal valproate use during pregnancy who presented with a combination of metopic suture synostosis and upper limb malformations, which could be diagnosed as Baller-Gerold syndrome (BGS). The patients underwent surgical treatment for the craniofacial deformity, during which standard frontocranial reconstruction was performed. ...
Nicholas Jude - - 2005
I present the case of a 12-year-old girl diagnosed with CHARGE syndrome. As an infant she had shown typical characteristics of CHARGE. Neuroimaging revealed asymmetrical ventriculomegaly. Both her teacher and parents reported academic and psychosocial problems. Neuropsychological assessment revealed significant executive dysfunction, including attention difficulties. We discuss the possible association ...
Borghi Elisa - - 2005
This is a case study of a child who developed roseola infantum first, then varicella, and was later affected by acute cerebellar syndrome, severe truncal ataxia, and myoclonic dystonia. Human herpesvirus 6 (HHV-6) A and B were detected in the cerebrospinal fluid (CSF) and peripheral blood, respectively, upon ataxia onset. ...
Moschos John - - 2005
A rare case of gastric outlet obstruction due to a large gallstone (Bouveret's syndrome) presenting with abdominal pain and vomiting is reported. The endoscopic management of the gallstone was unsuccessful because of the size of the stone that got stuck in oesophagus. The final management of the patient was surgical ...
McAuliffe N J - - 2005
Hyperimmunoglobulinemia E recurrent infection syndrome (also known as Job's syndrome) is a rare multi-system primary immunological disorder in which non-immunological abnormalities of the dentition, bones and connective tissue are also seen. A previous study has reported the occurrence of dental abnormalities in three-quarters of individuals diagnosed as suffering from this ...
Slavotinek Anne - - 2005
Marinesco-Sjogren syndrome (MSS) is a rare, autosomal recessive disorder comprising cataracts, cerebellar ataxia caused by cerebellar hypoplasia, mild to moderate mental retardation, neuromuscular weakness, short stature, hypergonadotrophic hypogonadism, and skeletal anomalies. The syndrome was recently mapped to chromosome 5q31, but there is evidence for genetic heterogeneity, and no gene has ...
Von Knorre Georg H - - 2005
When in 1930, Wolff, Parkinson, and White published what is today known as the WPW, or preexcitation syndrome, they, and subsequently others, found few comparable cases in the preceding literature. Among these the report of Cohn and Fraser, published in 1913, was the earliest. However, another even earlier documentation in ...
Golshevsky J - - 2005
We report a case of hair-thread tourniquet syndrome involving the labia majora of a 14-year-old autistic child. 'Hair-thread tourniquet' refers to the process whereby a thread of hair leads to the ischaemic strangulation of an appendage or other piece of tissue. Uncommonly recognized, this syndrome has gradually gained recognition since ...
Solmazgul Emrullah - - 2005
Weil's syndrome is known in a serious clinical form, but the development of immune haemolytic anaemia related to Leptospira in human beings is a very rare clinical presentation, and we encountered only 1 case report in a literature scan. In this paper we present a case of Weil's syndrome in ...
Masterson Tami - - 2005
We report a case of an 8-year-old girl who presented with the clinical picture of Lemierre's syndrome (LS) secondary to bilateral mastoiditis. She developed unilateral sensorineural hearing loss (SNHL) along with internal jugular vein (IJV) thrombosis, septic arthritis of her ankle and cervical fasciitis. Combined antimicrobial, anticoagulant and surgical treatment ...
La Grenade Lois - - 2005
BACKGROUND: Stevens-Johnson syndrome and toxic epidermal necrolysis are closely related severe acute life-threatening, drug-induced skin disorders. The US FDA Adverse Events Reporting System (AERS) has received reports of Stevens-Johnson syndrome and toxic epidermal necrolysis associated with the use of the recently introduced selective cyclo-oxygenase (COX)-2 inhibitor NSAIDs, two of which ...
Coskun B K - - 2005
We present a case of Reiter syndrome (RS) associated with Terry nail in a 32-year-old male patient who also had subungual keratosis and onycholysis. The case had all the characteristic findings of complete RS including urethritis, conjunctivitis, arthritis and skin lesions, and based on these findings a clinical diagnosis was ...
Margetić Branimir - - 2005
The authors report a case of a patient, who in a few days after an abrupt discontinuation of clozapine and haloperidol developed agitated and confused state resembling neuroleptic malignant syndrome (NMS) and clozapine withdrawal symptoms at the same time. Data obtained from family members led to gradual reintroduction of clozapine ...
van Gaal William J - - 2005
BACKGROUND: Platypnea-orthodeoxia describes the condition of combined dyspnea and hypoxia respectively, whilst in the upright position, which improves in the recumbent position. CASE REPORT: We present a case of platypnea-orthodeoxia due to a fenestrated atrial septal defect associated with an atrial septal aneurysm. Due to the fenestrated nature of the ...
Appelhans Carolin - - 2004
BACKGROUND: EMO syndrome, defined as a triad including exophthalmus, pretibial myxedema and osteoarthropathia, is a rare condition in patients suffering from hyperthyreosis. CASE PRESENTATION: We here describe an interesting case of EMO syndrome associated with unilateral fibromatosis of the hand and an initial stage of generalized myxedema of the skin. ...
Kortvelesy J Scott - - 2004
PURPOSE: To report on patients seen with an unusual condition affecting the eyelids. The syndrome manifests as a temporary adhesion which forms between the upper and lower eyelid associated with laxity of the lower lid retractors. This results in a peculiar closure of the lids. DESIGN: Retrospective case reports. METHODS: ...
Chakraborty Nandini - - 2004
Aripiprazole, an atypical antipsychotic with a novel method of action, has only recently been awarded a license in the UK. We report our first patient to receive this drug, who had treatment-resistant schizophrenia and developed neuroleptic malignant syndrome (NMS) with aripiprazole. To our knowledge, this is the first published case ...
Clarkson J H W - - 2004
An unusual case of a female infant with Catel-Manzke syndrome is presented. Additional features not previously reported include three accessory ossicles at the bases or associated with the proximal phalanx of the index, middle, ring and little fingers bilaterally. There are also numerous bony abnormalities in both feet. Previous cases ...
Adamski H - - 2004
BACKGROUND: Reticular erythematous mucinosis (REM) syndrome is a rare disorder. Its clinical course is cyclic with remissions and exacerbations. In this disease, photosensitivity has previously been noticed but rarely demonstrated. We report three new cases with positive photobiological investigation. CASE REPORTS: Three patients (two males, one female) with a mean ...
Lane Joshua E - - 2004
Paraneoplastic autoimmune multiorgan syndrome, also known as paraneoplastic pemphigus, has been observed only rarely among children. We describe a 10-year-old boy with typical clinical and histologic findings of paraneoplastic pemphigus associated with Castleman's disease. His disease was refractory to resection of the tumor and aggressive combination immunosuppressive therapies. The patient ...
Nematbakhsh Ahmad - - 2004
To report a case of non-adjacent spondylolisthesis in a patient with Ehlers-Danlos syndrome. Clinical case analysis of a case of Ehlers-Danlos with non-adjacent spondylolisthesis. Review of this case reveals progressive lytic non-adjacent spondylolisthesis in a child with Ehlers-Danlos syndrome. There are no other reported cases of Ehlers-Danlos syndrome associated with ...
Nonaka Daisuke - - 2004
Four cases of solitary cylindroma of the breast of skin adnexal type are described. The tumors were morphologically and immunophenotypically identical to their dermal counterparts. They arose in close proximity to the nipple, such as the retroareolar area of the breast and in intimate association with the lactiferous ducts, suggesting ...
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