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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 ...
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 ...
La Grenade Lois L Food and Drug Administration, Rockville, Maryland 20857, USA. - - 2005
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 are ...
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 ...
Kobus Christian - - 2004
BACKGROUND: Situs inversus (SI) is a rare autosomal recessive congenital defect in which the position of abdominal and/or thoracic organs is a "mirror image" of the normal one, in the sagittal plain. In 25% of these cases, SI is part of the Kartagener syndrome, together with bronchiectasis and chronic sinusitis. ...
Bloor R N - - 2004
A case is presented of a patient who described a koro-like syndrome related to amfetamine use; this consisted of a perception that his penis had reduced in size and was at risk of being sucked into his body. He described this as Whizz-Dick. This condition was also reported independently by ...
Reid Sandra D - - 2004
Tardive Tourette syndrome has been reported as a rare complication of neuroleptic treatment. This report describes the first case of neuroleptic-induced tardive Tourette syndrome in the Latin Americas and supports the successful treatment of this disorder with clonazepam. The syndrome developed in a female schizophrenic patient who discontinued medication after ...
Barnhart W Jason - - 2004
The authors review the literature pertaining to selective serotonin reuptake inhibitor (SSRI)-induced apathy syndrome. A literature search of Medline and International Pharmaceutical Abstracts from 1970 to the present was performed for relevant articles. Twelve relevant case reports and one open-label treatment trial were identified. An amotivational, or apathy, syndrome has ...
Mooney James F JF - - 2004
Compartment syndrome associated with child abuse is unreported in the literature. We describe two cases secondary to lower extremity fractures resulting from child abuse. The diagnosis and management of compartment syndrome are reviewed. Orthopaedic surgeons involved in the care of pediatric patients must be aware of this potentially devastating complication, ...
Klingler Edna Toubes - - 2004
Vital signs are an invaluable diagnostic tool, but in this era of modern medicine and expensive tests, important information obtainable at the patient's bedside is often overlooked. We report an unusual case, Shapiro's syndrome, in which an appreciation of temperature recordings was essential to diagnosis. We review this disorder and ...
Lopez-Cardona M G - - 2004
Myhre syndrome is a rare disorder characterized by low birthweight, short stature, mental retardation, facial dysmorphism (blepharophimosis, midfacial hypoplasia, prognathism), heart anomalies, muscle hypertrophy, decreased joint mobility and deafness. To date 11 male cases and only one female case have been reported. This paper describes the second female case and ...
Wechsler Stephanie Burns - - 2004
Congenital anomalies involving tibial aplasia are rare. Recently, four children with an unusual combination of limb anomalies, facial dysmorphism and genital hypoplasia have been reported. All affected children reported were male. One case noted father to son transmission, implying autosomal dominant inheritance. We report the first female patient with this ...
Alehan Dursun - - 2004
Celiac artery compression syndrome is a rare disorder and characterized by postprandial intestinal angina caused by insufficient blood supply to the gastrointestinal organs in symptomatic patients. This pathology is also known as median arcuate syndrome. The authors report a case of 12-year-old boy with severe celiac artery compression by the ...
Gerwig M - - 2004
We report on two young patients with an encephalitic syndrome and bilateral thalamic lesions following a presumably viral or mycoplasma respiratory tract infection with the main clinical symptoms of organic psychosis in the first and a prolonged amnestic syndrome and ataxia in the second case. Four months later the patients ...
Tubbs R Shane - - 2005
INTRODUCTION: Only two previous reports of agenesis of the internal carotid artery with a coexistent Horner's syndrome are to be found in the medical literature. CASE REPORT: We report a case of a male child seen initially for what was presumed to be a traumatic superficial temporal artery aneurysm. MRA ...
Agaba E I - - 2004
BACKGROUND: Nephrotic syndrome occurring for the first time in pregnancy is rare. We report pre-eclampsia presenting with nephrotic syndrome. METHOD: A case report utilizing the case record and review of relevant literature. RESULTS: A 26-year-old multi-gravida who presented with nephrotic syndrome for the first time in pregnancy. Proteinuria resolved spontaneously ...
McVay Carie L - - 2004
There are few cases of splenic infarction associated with antiphospholipid antibody reported in the literature. We present two cases of splenic infarction associated with anticardiolipin antibody, one complicated by the development of a splenic pseudocyst. Clinical diagnostic features of splenic infarction are described. In addition, a review of the literature ...
Takehana Keiko - - 2004
Malignant hyperthermia (MH) is a potentially fatal disease triggered by general anaesthesia. Four cases of compartment syndrome complicating MH have been reported. We report here a case of transient talipes equinus deformity of bilateral lower limbs, a condition similar to compartment syndrome, following MH in a previously healthy pediatric patient. ...
Radke S - - 2004
Transient bone marrow edema syndrome (TMES) is a rare disease of unknown etiology. Diagnosis is made by exclusion. There is still controversy as to whether TMES is considered to be a reversible form of avascular necrosis (AVN), a disease entity of its own or a form of non-traumatic algodystrophy. We ...
Lee Samson - - 2003
Gorham-Stout syndrome, or disappearing bone disease, is characterized by the proliferation of thin-walled vascular channels associated with regional osteolysis. There have been fewer than 150 cases reported in the literature. In this clinical report, we describe 2 additional cases of Gorham-Stout syndrome affecting the maxillofacial skeleton. We provide a review ...
Elloumi-Jellouli A - - 2003
Trigeminal trophic syndrome, a rare cause of facial ulceration, is the consequence of damage to the trigeminal nerve or its central sensory connections. We report two cases of trigeminal trophic syndrome, complications of cerebral vascular accidents. A 65-year-old woman complained of numerous and progressive ulcers of the right side of ...
Hubbard Melissa - - 2003
Reports of Mounier-Kuhn Syndrome in childhood are extremely rare, as it usually presents in the third or fourth decades. In the only other report of a case diagnosed in early childhood, the child was well at the time of publication. We report on a 15-month-old boy who presented with his ...
Myers B - - 2003
We report on three cases of Guillain-Barré syndrome (GBS) occurring in patients with myelodysplasia, two with autoimmune manifestations. In two cases the myelodysplasia was diagnosed during the treatment of the GBS, while in the third case the myelodysplasia preceded its diagnosis. We discuss possible underlying mechanisms for the previously unreported ...
Chen Li-hua - - 2003
OBJECTIVE: To gain further understanding of the antiphospholipid syndrome(APS). METHODS: Analysing clinical and laboratory data on ten cases of APS. RESULTS: Thrombocytopenia appeared in all cases. Venous thrombi of limbs appeared in five cases and neurological abnormalities in two cases. Renal impairments were found in three cases. One case manifested ...
Memon Sattar A - - 2003
BACKGROUND: Rapunzel syndrome is a rare condition and occurs when gastric trichobezoar extends beyond the pylorus into the bowel. Till to date, only thirteen such cases have been reported in literature in paediatric age group. We present an additional case and also report the first recurrence of the Rapunzel syndrome ...
Vital Claude - - 2003
The pathogenesis of Crow-Fukase (POEMS) syndrome is not well known, and in some cases, a definite diagnosis is difficult to establish. Nerve fibers have been studied in about 120 peripheral nerve biopsies (PNBs), and a mixture of axonal and demyelinating lesions were found in most of them. We report five ...
Bouw Jans - - 2003
This case report describes the successful perioperative management of a patient with a rare and disabling neurologic disorder, the stiff person syndrome. The patient had a delayed emergence despite apparent full reversal of neuromuscular blockade. We suggest an interaction between the GABAergic effects of baclofen and volatile anesthetics as a ...
Tyagi Seema - - 2003
Cation exchange high performance liquid chromatography (HPLC) is emerging as the method of choice for the initial screening of thalassemias and haemoglobinopathies and quantification of Haemoglobins (Hbs) like HbA, HbA2 and HbF. Since it is expensive, the present study was conducted to evaluate the need for HPLC in Indian laboratories ...
Tan D Y - - 2003
INTRODUCTION: Severe acute respiratory syndrome (SARS) is a new form of atypical pneumonia caused by a coronavirus. We present the clinical course and chest radiographic findings of a case of SARS with fatal outcome. CLINICAL PICTURE: A 39-year-old Chinese male presented with fever, sore throat and non-productive cough. During his ...
Mat Cem - - 2003
Stiff skin syndrome (SSS) is a disease similar to scleroderma with an unknown etiology. Stone-hard areas of skin are observed from birth or in early childhood. In this article we describe a 15-year-old girl with skin hardening and limitation of movement. We diagnosed the case as SSS, of which we ...
Oyamada Maria Kiyoko - - 2003
OBJECTIVE: To report on a case of Pfeiffer Syndrome, with a discussion of the diagnostic characteristics and features of disease types and the differential diagnosis. DESCRIPTION: The authors describe a newborn with cloverleaf skull, extreme bilateral exorbitism and choanal atresia, partial syndactyly of the second and third toes and broad ...
Derk Chris T - - 2003
We report a case of Goodpasture-like syndrome developing in a patient who was treated with D-penicillamine for the diffuse form of systemic sclerosis. This unusual pulmonary-renal syndrome has been described on rare occasions in patients receiving D-penicillamine. This complication appeared to be uniformly fatal unless treated with aggressive immunotherapy. We ...
Moore Diana - - 2003
Leukoencephalopathy syndrome is a rare disorder that results from structural alterations of cerebral white matter, is characterized by cerebral edema, and can occur in patients of any age. Cranial irradiation and certain chemotherapy agents, especially those used in high-dose protocols, are causal agents. The prevalence of toxic leukoencephalopathy is unknown; ...
Radhakrishnan S - - 2003
Oikarinen et al in 1989 reported a syndrome associated with generalized gingival fibromatosis and growth hormone deficiency. This is a case report of a 15-year-old female patient who presented to the Government Dental College, Chennai with generalized gingival fibromatosis and growth hormone deficiency. Interestingly, the histopathology of the excised gingival ...
Ryan R S - - 2003
We report a case of Alagille syndrome (arteriohepatic dysplasia) with the unusual radiological abnormality of synostosis of the proximal portions of the radius and ulna bilaterally, a manifestation which, to our knowledge, has not previously been described in a specific patient in the English language literature. We also describe additional ...
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