Search Results
Results 601 - 650 of 1008
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Daly S E - - 2001
A retrospective review of cases at a level I pediatric trauma center from 1995 through 1999 was conducted to identify cases of suspected shaken baby syndrome. Cases were included if the primary diagnosis was associated with shaken baby syndrome, such as retinal hemorrhage or subdural hematoma. The daily temperature and ...
Garcia-Minaur S - - 2001
We report on three European cases of urofacial (Ochoa) syndrome. This entity was originally described in Colombian patients and very few cases have been reported from other countries. It is likely that they may be missed because of variability of the urinary problems and failure to recognize the characteristic facial ...
Bhaskaranand Kumar - - 2001
Three patients with pachydermoperiostosis are reported. All patients presented with moderate pain and swelling in multiple joints unresponsive to treatment, characteristic facial features which were marked in two cases, clubbing of nails and enlargement of distal parts of the extremities. One patient had spondylolisthesis of L5-S1 vertebrae, an association not ...
Mittal D - - 2001
Trichotillomania represents a syndrome of hair pulling in which patients compulsively and ritualistically pluck their hair in response to a sense of tension or urgency. This report documents a case of hair pulling associated with dementia. Neuropsychological testing demonstrated the deficits to be localized predominantly to the frontal lobe dysfunction.
Fleck B J - - 2001
To clarify the phenotypic variability of Coffin-Siris syndrome, we present a review of the literature and 18 new cases. We performed a questionnaire study of patients ascertained through an international support group. Information on their sibs was available for comparison. The most frequent findings include some degree of mental retardation ...
Lasch H M - - 2001
Hepatopulmonary syndrome (HPS) is defined by the presence of the triad of liver disease, arterial hypoxemia, and intrapulmonary vascular dilatation. The clinical implication of this disorder is impairment of gas exchange. Numerous reports in the literature show that this condition is reversible with orthotopic liver transplantation (OLT). However, patients with ...
Orrico A - - 2001
In this report, we present a 14-year-old girl, born to consanguineous parents, who presented with severe mental retardation, hypotonia, short stature, and congenital joint contractures. The craniofacial features were scaphocephaly, thin/long and immobile face, marked hypoplasia of the midface, temporal narrowness, blepharophimosis, palpebral ptosis, and strabismus. The combination of such ...
Breuer G S - - 2001
Guillain-Barré syndrome (GBS) is often preceded by an infectious disease. A case of GBS after hepatitis A in a pregnant woman is described. The patient was treated with intravenous immunoglobulin and had full recovery with no neurologic sequelae. She gave birth in term to a healthy baby. This is the ...
Apostolakis L W - - 2001
BACKGROUND: The nasogastric tube syndrome is a potentially life-threatening complication of an indwelling nasogastric (NG) tube. The syndrome is thought to result from ulceration and infection of the posterior cricoid region with subsequent dysfunction of vocal cord abduction. This dysfunction may present as complete loss of vocal cord abduction manifested ...
Bradley E - - 2001
We present a case of persistent right umbilical vein with Noonan's syndrome. Persistence of the right umbilical vein with no intrahepatic portion is an uncommon finding with a review of the literature revealing only five other cases. In these cases drainage was directly into the right atrium, inferior vena cava ...
Arazi M - - 2001
We report a child with de Barsy syndrome, which is a very rare, genetically transmitted clinical entity associated with mental and growth retardation, severe cutis laxa, joint laxity and various ocular and skeletal system findings. The patient was operated to treat her orthopedic disabilities. Typical findings of this case with ...
Danzer E - - 2000
The authors report the case of a 6-week-old boy with the Smith-Lemli-Opitz-syndrome (SLOS) and review the literature on the subject. Intersexuality was suspected and a laparoscopy performed. Abnormalities of the gastrointestinal tract, the lower extremities, and the face prompted DNA analysis, which found a defect of cholesterol biosynthesis in the ...
Pager C K - - 2000
The short life of Baby P is reviewed. Baby P was an infant girl who was born with hypoplastic left heart syndrome and died at the age of 30 days. Effective, aggressive surgical treatment for this condition is rapidly developing in some countries, but is rarely available or successful in ...
Wynants H H Institute of Tropical Medicine, Nationalestraat 155, 2000 Antwerp, - - 2000
Severe eosinophilia may be complicated by acute or chronic visceral damage. The underlying origin of the hypereosinophilia may be infectious, allergic, toxic, malignant or systemic (the secondary or reactive hypereosinophilic syndrome), but in a number of cases no cause can be found (the idiopathic hypereosinophilic syndrome). We describe 4 cases ...
Gurwood A S - - 2000
BACKGROUND: Duane's retraction syndrome (DRS), also known as Stilling-Turk-Duane syndrome, is defined as a congenital miswiring of the lateral and medial recti muscles, resulting in an impaired ocular motility syndrome that includes palpebral fissure narrowing. The incidence of DRS is approximately 1% of the total cases of strabismus. Eighty percent ...
Lascar T - - 2000
Fifty-three cases of cubital tunnel syndrome were treated by anterior subcutaneous transposition of the ulnar nerve. All patients were assessed by an independent examiner at a mean follow-up of 32 months. McGowan's rating scale, as modified by Goldberg, was used preoperatively and at follow-up. Preoperatively, five cases were classified grade ...
Nafday SM - - 2000
A 15-year-old Indian boy from Guyana presented with episodes of syncope for past 4 years. Klippel-Trenaunay was entertained based on presence of capillary hemangioma and gross venous malformation of left leg. Unusual features noticed were "orthostatic hypotension as a presentation," atrophy of leg as contrasted to common finding of hypertrophy, ...
Sathasivam S - - 2000
We describe a case of the Brown-Vialetto-Van Laere syndrome, which is a rare disorder characterized by progressive pontobulbar palsy associated with sensorineural deafness. More than 30 cases have been reported since the first case was described in 1894. We review the literature of this condition, comparing our case with those ...
Larrègue M - - 2000
Olmsted syndrome is a rare keratinization disorder; 18 cases have been published so far. It associates a mutilating cogenital palmoplantar keratoderma with periorificial erythematokeratotic lesions. We report herein two new unrelated male children with Olmsted syndrome (OS), one of whom was studied by light and electron microscopy. Our histological, immunohistochemical, ...
Védie C - - 2000
The authors describe the cases of three patients presenting a major extrapyramidal symptom with rising CPK, inconstant hyperthermia and autonomic dysfunction. Through a brief review of the literature, the authors question the unity of the malignant syndrome. If hypertonia is quite constant, the rise in the seric CPK is aspecific ...
Azar T - - 2000
We present a case of a young boy with clinical manifestations of lacrimo-auriculo-dental-digital syndrome (LADD) with the additional finding of a hypoplastic epiglottis that caused airway obstruction at birth. We also reviewed the 30 cases of LADD that have been reported since 1967. It is a rare syndrome that includes ...
Marques-de-faria A P - - 2000
We report a male infant with an association of hypothyroidism and unusual facies, including blepharophimosis, which is similar to the dysmorphic features observed in the condition first described by Young and Simpson [(1987) J Med Genet 24:715-7161. On the other hand, the patient also shares many features with those reported ...
Kapoor A - - 2000
Chediak Higashi anomaly is a very rare disorder in which patients suffer frequent and severe pyogenic infections that are secondary to abnormal functions of polymorphonuclear leukocytes, associated with albinism and bleeding tendency. Blume RS and Wolff SM (1972) reported that only 59 cases were diagnosed after the first description of ...
Kent D - - 2000
PURPOSE: Antiphospholipid syndrome (APS), as an acquired prothrombotic disorder, is increasingly being recognised as an important cause of systemic venous and arterial thrombosis. The defining feature of the condition is the presence of raised levels of antibodies to negatively charged phospholipids in the serum. METHODS: We describe 2 cases of ...
Lees M - - 2000
We describe the clinical findings in two previously unreported, unrelated cases with aplasia cutis congenita and epibulbar dermoids, similar to the cases reported by Toriello et al. [1993]. In addition, one patient had bladder exstrophy with epispadias. These cases provide further evidence for the identification of the oculo-ectodermal syndrome as ...
Hisham A N - - 2000
Hungry bone syndrome (HBS) following successful parathyroid surgery is a well described phenomenon. However, few studies have clearly addressed this syndrome or looked at the outcome of perioperative management. We report a case of HBS following successful parathyroid surgery. The perioperative management is discussed and literature pertaining to this interesting ...
Miller M K - - 2000
Using case reports and a review of the literature, the clinical features of envenomation by the genus of Australian funnel web spiders known as Hadronyche, are characterised. Five cases are reported here, including the first life-threatening envenomation by Hadronyche species 14 (the Port Macquarie funnel web). Two severe envenomations by ...
Kluijt I - - 2000
Six cases of Kabuki syndrome (KS) with ocular anomalies are reported and the variety of ocular features reported in the literature for this syndrome is described. Routine ocular examinations are recommended for every patient with KS because of the high proportion of ocular anomalies found in these patients, the presence ...
Litvyakova L I - - 2000
BACKGROUND AND CONCLUSION: A case of a 41-year-old patient with a 5-year history of chronic recurrent angioedema, refractory to conservative treatment is presented. The results of the case report suggest that in differential diagnosis of angioedema, in addition to usual causes, the allergist-immunologist needs to consider Melkersson-Rosenthal syndrome, which can ...
Satko S G - - 2000
Immunoglobulin A (IgA) nephropathy is the commonest type of primary glomerulonephritis worldwide. It has previously been reported in association with the seronegative spondyloarthropathies (ankylosing spondylitis, Behcet's syndrome, psoriatic arthritis, Reiter's syndrome and the postenteritic arthritides). Since this condition was first described in 1968, 5 previous case reports of biopsy-proven IgA ...
Barakat K - - 2000
Although transvenous pacing is a safe treatment modality for bradyarrhythmias, serious thrombotic and embolic complications are reported to occur in 0.6-3.5% of cases. We describe 5 cases of pacemaker-associated thrombosis, 3 with a superior vena cava syndrome (SVC), 1 with an axillary vein thrombosis and 1 with a thrombus attached ...
Khanine V - - 2000
Osteoporosis is a common complication of Cushing's disease/syndrome. Fractures can be the presenting manifestation. We report two cases and review 28 others from the literature. Clinical, laboratory, and absorptiometry data are reviewed; the vertebrae and ribs were the most common fracture sites, and osteoporosis reversal after treatment varied with age, ...
Danon O - - 2000
Rhombencephalosynapsis is an unfrequent malformation of the posterior fossa essentially characterized by vermian agenesis or hypogenesis, fusion of the cerebellar hemispheres and fusion of the dentate nuclei. Supratentorial abnormalities are usually associated. No specific clinical syndrome can be described in relation with this disorder. We report a case diagnosed by ...
Kay V J - - 2000
This paper reports on the successful treatment by in-vitro fertilization (IVF) of a couple in whom the male partner had Kartagener's syndrome. His spermatozoa were severely asthenozoospermic with deficient dynein arms and disordered microtubular configuration. On computer-assisted sperm analysis (CASA) motile spermatozoa displayed straight non-progressive motility with minimal amplitude of ...
Ayache D - - 2000
Microangiopathy of the inner ear, retina, and brain was first described in 1979 by John O. Susac. Since then, approximately 60 cases have been reported. Otolaryngologists must be aware of this syndrome, in which cochleovestibular symptoms are an important part of the diagnosis. In this article, we report a new ...
Gmyrek R - - 1999
SAPHO (synovitis, acne, pustulosis, hyperostosis, and osteitis) is an acronym that describes a seronegative syndrome of bone and joint lesions, frequently localized to the anterior chest wall, associated with variable dermatologic manifestations. Dermatologists should be aware of this entity, as early diagnosis can prevent unnecessary surgery and avoid prolonged ineffective ...
Jarrell L - - 1999
Obstructive sleep apnea syndrome (OSAS) is a common yet potentially fatal disorder. Several reports and clinical studies have established anesthetic-related occurrences of near-fatal respiratory complications in persons with this syndrome, as well as cases of death reported in the medical literature linking OSAS and anesthesia. The postoperative period is a ...
Cooper M E - - 1999
The presentation of posterior ankle pain in any patient poses a diagnostic dilemma. The os trigonum syndrome and flexor hallucis longus stenosing tenosynovitis have been reported to occur in professional and amateur ballet dancers. It is important to consider these diagnoses in a patient who is not a dancer, as ...
Dalshaug G B - - 1999
The Rapunzel syndrome (trichobezoar) occurs when gastrointestinal obstruction is produced by a rare manifestation of a trichobezoar with a long tail that extends to or beyond the ileocecal valve. A case history of a 7-year-old girl is described. This is the eleventh patient with Rapunzel syndrome reported in the literature. ...
Saed G - - 1999
Factitious hemoptysis is the bleeding type of Munchausen's syndrome, rarely reported in the literature (only seventeen cases). After a careful and detailed literature review, the authors report the case of a 22-year-old working-woman, with a history of asthma, Mediterranean anaemia and recurrent hemoptysis, who was admitted several times to the ...
Carhuapoma J R - - 1999
BACKGROUND: There are anecdotal reports of the rare combination of Sneddon's syndrome, lupus anticoagulant, and Moyamoya. To our knowledge, we now report the first case of anticardiolipin antibodies, Sneddon's syndrome, and Moyamoya. METHODS: Case-report and systematic literature review. RESULTS: A 37-year-old woman had 31/2 years of recurrent left-sided sensory-motor symptoms. ...
Erk A - - 1999
BACKGROUND: Persistent müllerian duct syndrome is a rare form of male pseudohermaphroditism in which well-developed müllerian structures are present in an otherwise normal male with XY chromosomes. The syndrome was first described by Nilson in 1939, and almost 100 cases have been reported. CASE: A 22-year-old man presented with mild, ...
Hayashi H - - 1999
We propose a new term, the "fourth-compartment syndrome" to describe chronic dorsal wrist pain of the fourth compartment. Five main causes responsible for this syndrome are thought to be as follows: 1. Ganglion involvement, including an occult ganglion; 2. Extensor digitorum brevis manus muscle; 3. Abnormal extensor indicis muscle; 4. ...
Nakamura K - - 1999
The cardinal feature of Maffucci syndrome is the coexistence of enchondromatosis and vascular anomalies. The patients are usually normal at birth, the disease becoming evident at any time up to puberty. Association of soft-tissue swelling has been described in this syndrome but has not been listed as a sign or ...
Shah R - - 1999
Inhalant withdrawal symptoms have previously been described but not well documented. This case-series describes the sociodemographic and clinical characteristics of nine children and adolescents with gasoline abuse. Gasoline inhalation was the drug of choice in our patients. The mean age was 13.6 years and all the subjects belonged to low ...
Apak R A - - 1999
Paroxysmal tonic upgaze of childhood is a rare, distinctive, childhood syndrome that may be associated with ataxia and sometimes strabismus or amblyopia. Neurological examination as well as metabolic studies, electroencephalogram and neuroradiological investigations are normal in these patients. Although it has been considered as an age-related, dopa-sensitive dystonia, the exact ...
Picco P - - 1999
We report a series of 22 children with idiopathic, drug unrelated erythema nodosum (EN) admitted to our Department. In 5 of them an history of streptococcal pharyngitis was referred; the remaining patients came to us with a diagnosis of "EN of unknown origin". Acute phase reactants, immunoglobulins, stool alpha1 antitrypsin, ...
Onrust S - - 1999
Maternal mortality in developed countries does not seem to have decreased during the past decade, despite good prenatal care. Hypertensive disorders of pregnancy are the main cause of maternal mortality in most countries. In more than half of these cases, the HELLP syndrome is involved. In this article attention is ...
Clarke D - - 1998
Six people with Prader-Willi syndrome (PWS) who developed psychoses are described. Along with other literature reviewed in the present paper, the results imply an association between PWS and psychotic symptoms. Genetic studies were possible in five cases and SNRPN expression was examined in three cases. Maternal uniparental disomy and 15q11q13 ...
Haasbeek J F - - 1998
This report recounts an unusual case of compartment syndrome of the leg and foot resulting from hanging on the side of a toddler's bed in a 11/2-year-old boy. Parents apparently found the patient on the side of the bed in the morning. Presentation to hospital revealed obvious tense compartments of ...
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