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Pacia S V - - 1994
The prolonged QT syndrome is associated with ventricular tachyarrhythmias and sudden death. We report two patients and review eight previously reported cases of this syndrome, presenting as epilepsy. The average age at the time of the first convulsion was 4.7 years. Episodes were often infrequent, and the time to correct ...
Chadwick B - - 1994
Twenty-six persons with Laband syndrome have been reported in the literature to date. We report two further unrelated cases and suggest that a skeletal anterior open bite and symmetric soft tissue swelling of the vault of the palate be added to the variable features associated with the syndrome. There is ...
Ferrando F J - - 1994
A case of chronic urticaria with macroglobulinemia (Schnitzler's syndrome) is described. To our knowledge, this is only the second case reported in the literature with osteolysis and the presence of cryoglobulins in sera. The characteristics of the previous 21 cases of this syndrome are reviewed. The pathogenesis of this peculiar ...
Amr S S - - 1994
A case of struma ovarii with ascites and hydrothorax is reported. This unusual rare association is labeled as pseudo-Meigs' syndrome to differentiate it from conventional Meigs' syndrome in which the ovarian tumor is a fibroma. We discuss the diagnostic problems of this condition, and present a brief review of the ...
von Mühlendahl K E - - 1994
Precocious puberty apparently occurs more often in boys with Klinefelter syndrome than could be expected by chance. So far, reports exist on nine such patients, to which two more cases are added here. Whereas most of the previously described boys had endocrinologically active tumours, these two patients had sexual precocity ...
Kobayashi K - - 1994
An autopsied case of Ramsay Hunt syndrome with progressive dementia was reported. The clinical symptoms included progressive intellectual decline, myoclonus, generalized convulsive seizure, cerebellar ataxia and positive pyramidal signs. Neuropathological examination disclosed cerebral white matter demyelination marked in the frontal lobe and fibrillary gliosis predominantly in the subcortical U-fibers, grumose ...
Motomura N - - 1994
A case of tool use disturbance without impairment of motor skills and of conceptual knowledge of how tool must be used is reported. The patient could not manipulate objects isolatedly or in succession but could pantomime their use on command and on imitation. This finding suggests that manipulation of objects ...
Cribier B - - 1994
Staphylococcal scalded skin syndrome is rarely observed in adults; only 32 cases have been reported. In contrast to infant cases, the mortality rate is high. Two major risk factors have been identified: kidney failure and immunosuppression. In adults, clinical features are similar to those of the typical pediatric disease, but ...
Sánchez R L - - 1994
We describe 5 new cases of striated muscle hamartoma (SMH) and review the 7 cases previously described in the literature. Eleven of the 12 patients had single lesions centrally located on the chin (4), near the ala of the nose (3), on the upper chest (3), and on the upper ...
Tutar H E - - 1994
A 2 year old girl who has Kabuki make-up syndrome with isolated premature thelarche is presented. She has unique ocular abnormalities which have not been reported previously. In the literature at least 85 patients, most of them from Japan, have been reported. This is the first reported non-Japanese Asian case.
Osundwa V M - - 1994
Common variable immunodeficiency and ataxia-telangiectasia with immunodeficiency are both well recognized syndromes which occur in children. The aetiological factors responsible for both these conditions have yet to be defined clearly. The clinical and laboratory features in two siblings, one with common variable immunodeficiency and the other with ataxia-telangiectasia, are presented. ...
Raja M - - 1994
In a series of 1007 consecutively admitted patients, 3 cases of neuroleptic malignant syndrome (NMS) were identified (0.3%). All three patients were affected by mood disorders with congruent psychotic features, had shown catatonia just before the onset of NMS, and had been treated with low neuroleptic doses. All of them ...
Krajewska-Walasek M - - 1994
In this report we describe two sibs with an unusual and complex pattern of severe malformations resembling Aminopterin Syndrome Sine Aminopterin (ASSA) syndrome, the phenotypic features of which are similar to those of aminopterin embryopathy. Six nonfamilial cases of ASSAS have been published in the literature to date. Our family ...
Domrongkitchaiporn S - - 1994
We report the case of a 52-year-old male patient with recurrent thrombosis from 'primary antiphospholipid syndrome' who developed renal microangiopathy. Despite anticoagulant therapy with coumadin, serum creatinine progressively increased from 398 to 592 mumol/l and platelets decreased to 43,000. The patient responded to high-dose methylprednisolone and aspirin and the renal ...
Hall P - - 1993
Genuine anorexia nervosa starting in the elderly is thought relatively uncommon. Some previously reported cases may have been elderly depressives with loss of appetite rather than true eating disorder. The condition also has to be distinguished from "late onset" anorexia in mature but younger women. Two illustrative patients are briefly ...
Cheng S J - - 1993
The Melkersson-Rosenthal syndrome (MRS) is a rare disease which includes a triad of orofacial swelling, recurrent facial nerve paralysis and plicated tongue. MRS can still be diagnosed when any two of the conditions are present. Because of its rarity, it is usually ignored and misdiagnosed. Herein, a diabetic female patient ...
Mazzucchelli R - - 1993
During the last decade, antiphospholipid antibodies and their clinical manifestations have given rise to increasing interest and have been associated with a wide spectrum of clinic expression, including arterial and venous thrombosis, thrombocytopenia, recurrent fetal wastage, Coombs positive haemolysis, livedo reticularis and neurological abnormalities, commonly present as isolated recurrent events, ...
Orrett F A - - 1993
This article describes a 29-year-old man with a 21-year history of undiagnosed jaundice. The major abnormality in this patient was unconjugated hyperbilirubinemia. All other liver function tests were normal. The apparent cause of his condition was elucidated, and the hyperbilirubinemia disappeared after he was treated with phenobarbitone. A review of ...
Olguntürk F R - - 1993
A three-year-old boy with the diagnosis of Ehlers-Danlos syndrome (EDS) with persistent ductus arteriosus and multiple diffuse arterial aneurysms is presented. The case is classified as "EDS type unknown" because the clinical features and the inheritance pattern differ from the types described previously. It is stressed that the diagnosis of ...
Zeitouni A G - - 1993
Although first characterized over 45 years ago Cogan's syndrome still remains a rare disease, with a high incidence of poor outcome. Experience with a case of Cogan's syndrome over a 10-year period is presented. The fluctuating clinical evolution and laboratory findings over this period are depicted, starting from presentation at ...
Intragumtornchai T - - 1993
A Thai male, aged 36 yrs, presented with chronic progressive sensorimotor polyneuropathy and mixed osteosclerotic and lytic lesions at the lumbar vertebrae (L). Generalized hyperpigmentation, bilateral gynecomastia, small testes, hepatomegaly, lymphadenopathy and ascites were observed. Computerized tomography of the lumbosacral spines revealed osteosclerotic changes at L3,4,5 with spiculated bony proliferation ...
Evans J - - 1993
Lesch-Nyhan syndrome, a rare inborn error of metabolism, is characterized by mental retardation and factitious oral lesions, which cause immense difficulties in its management. A case of an 11-year-old boy, the elder of two siblings with this condition, who had severe self-inflicted injuries to oral and perioral tissues is presented ...
Levin M L - - 1993
Two previous case reports have described an apparently new lethal syndrome consisting of pachygyria, joint contractures and facial abnormalities (Winter et al., 1989; Tsukahara et al., 1990). Another report describes a non-lethal case in which dysmorphic features were not noted (Massa et al., 1988). We now report on what appears ...
Seow W K - - 1993
Trichodentoosseous (TDO) syndrome is an autosomal dominant condition characterized by dysplastic nails, curly hair, bone sclerosis of the long bones and calvarium, taurodontism, and enamel hypoplasia that occurs with hypomaturation/hypocalcification defects. To date, nine previous case reports of TDO in the dental literature have shown that while taurodontism and enamel ...
Robson W L - - 1993
Thirty-one children with the extraordinary urinary frequency syndrome are presented. Several possible etiologies were identified including viral cystitis-urethritis, stress, and hypercalciuria. A case definition is provided and the literature is reviewed. The authors suggest that this problem is more common than is generally appreciated. The condition is usually self-limited, and ...
Chia F L - - 1993
Two siblings are reported who have features of the Marden-Walker syndrome. They have congenital joint contractures, camptodactyly, talipes equinovarus, abnormal facies, global delay in developmental milestones, hypotonia and failure to thrive. About 20 cases have been reported in the world literature. A summary of some of the cases is presented. ...
Tosti A - - 1993
A 58-year-old woman had a chronic necrotic ulceration of the fingertip of the third finger and nail plate abnormalities of the first, second, and third fingers of the right hand. Roentgenograms of the hands showed acroosteolysis of the distal phalanges of the second and third right fingers. Skin and nail ...
Brookhyser K M - - 1993
We report a case of third trimester spontaneous resolution of a nuchal cystic hygroma with pleural effusion in a fetus with Turner syndrome (45,X). The neonatal health of the infant was good. Our case description exemplifies difficult counseling issues involved with the detection of a cystic hygroma and provides documentation ...
Duncan G J - - 1993
The Baller-Gerold syndrome is identified by radial aplasia with craniosynostosis. Only 12 cases have been reported previously in the literature; none of the reports describe surgical treatment for the radial aplasia. We report the case of a 10-month-old female infant with this syndrome, including severe bilateral radial clubhands. A radial ...
Erkwoh R - - 1993
The majority of reports on the phenomenon of musical hallucinations suggests that this abnormality is a complication of a progressive peripheral hearing deficit. The present case report and a review of the international literature would, however, indicate that this syndrome may be the result of a dysfunction of the temporal ...
Ridgway H B - - 1993
Generalized eruptions following radiation therapy are rare. Most reported cases involve deep x-ray therapy for underlying cancer. We report a patient who experienced Stevens-Johnson syndrome following radiation therapy and present a review of the literature.
Hawkins B J - - 1993
We report the case of a 36-year-old man who developed a compartment syndrome after a minor ankle fracture was casted. The treatment was inadequately monitored and he subsequently developed the manifestations of a crush syndrome. This case demonstrates that relatively minor injuries can indeed be fatal if appropriate vigilance is ...
Schreier H A - - 1993
A review of the literature and a survey of pediatric neurologists and gastroenterologists yield data indicating that the prevalence of Munchausen syndrome by proxy is greater than is generally estimated. This possibility is further supported by follow-up data on siblings of victims, together with wide variability among practitioners in case ...
Reddig S - - 1993
Clozapine is an atypical neuroleptic drug that was initially thought not to cause neuroleptic malignant syndrome (NMS). We report a case of NMS associated with clozapine as a single agent that developed in a patient with no prior history of NMS. In contrast to other reported cases of NMS with ...
Arellano F - - 1993
OBJECTIVE: To review the pathophysiology, pathology, and clinical findings of allopurinol hypersensitivity syndrome (AHS), an infrequent but life-threatening adverse effect of allopurinol therapy. DATA SOURCES: A MEDLINE search (key terms hepatitis, interstitial nephritis, severe hypersensitivity, severe toxicity, vasculitis, toxic epidermal necrolysis, Lyell's syndrome, erythema multiforme, and Stevens-Johnson syndrome) was used ...
Yasunaga M - - 1993
A 7-year-old boy with a peculiar face, protein-losing gastroenteropathy and growth retardation is reported. Although he has a face similar to those 5 cases reported previously by Hennekam et al. (Am J Med Genet 34:593-600, 1989) and Gabrielli et al. (Am J Med Genet 40:244-247, 1991), he is not mentally ...
Falcone P M - - 1993
Toxoplasmic retinochoroiditis has been reported as the initial manifestation of acquired immunodeficiency syndrome (AIDS). Two authors have described two patients with AIDS and toxoplasmic papillitis. We report the case of a patient with a papillitis of unknown origin in whom the workup found systemic toxoplasmosis and subsequent positive human immunodeficiency ...
de Berker D - - 1993
We report a case of KID (Keratitis, Ichthyosis, and Deafness) syndrome in which the patient died at the age of 2 months. Detailed histological study of the affected organs, particularly the inner ear and external auditory meatus, was performed. This case is the first in which previously described principles relating ...
Gardais J - - 1993
A case of abnormal chromatin clumping (ACC) which arose during the course of a myelodysplastic/myeloproliferative syndrome is described in a 61 year old woman who died of haemorrhage 43 months after diagnosis. Mature granulocytes exhibited the same nuclear abnormality described in other patients reported. Unusually, she presented with advanced splenomegaly ...
Adamsbaum C - - 1993
We report three cases of persistent Müllerian duct syndrome, which is a rare form of inherited male pseudohermaphroditism characterized by the presence of a uterus and tubes in otherwise normally virilized 46,XY males. We emphasize the usefulness of ultrasonographic study of the pelvis and inguinal areas in the preoperative diagnosis, ...
Latronico N - - 1993
We describe a case of incomplete locked-in syndrome (LIS) due to basilar artery thrombosis, in which MRI showed a complete, sharply demarcated infarct at the pontomedullary junction. This supports experimental data showing that the lower reticular formation is not critical for the maintenance of consciousness. To our knowledge, this is ...
Chan E D - - 1993
Reye's syndrome (RS), originally known by the more descriptive name "encephalopathy with fatty degeneration of the viscera," was first described in children and is still seen mostly in them. However, there have been a few case reports of adult Reye's Syndrome (ARS) since the mid-1970s. The following report is a ...
Acea Nebril B - - 1993
Solitary hamartomatous duodenal polyps are a clinical entity considered until now to express an incomplete or initial form of Peutz-Jeghers syndrome (PJ syndrome). Following our experience of 1 case, we analyzed the clinical characteristics of the 12 previously reported cases of solitary hamartomatous duodenal polyps. In none of these cases ...
Braune S - - 1993
In two patients with primary antiphospholipid antibody syndrome and acute cerebrovascular ischemic events, local intraarterial fibrinolysis and intravenous heparin therapy, respectively, resulted in a limitation of persisting neurological deficits. On the basis of the 35 case reports available a combination of anticoagulation with warfarin, plus immunosuppression with steroids and/or cyclophosphamide ...
Di Blasi S - - 1993
The authors describe a case similar to the complex syndrome described by Seckel (1960), "dwarf-headed dwarfism." This case differs from others previously reported because of slight hypophyseal hypoplasia with a slight reduction of human chorionic gonadotrophin (HCG) serum levels, and because of the parent's consanguinity (first cousins). A comparative critical ...
Díez-Tejedor E - - 1993
Although ganglioside administration has been suspected as being responsible for Guillain-Barré syndrome (GBS) and peripheral neuropathies in some patients, current epidemiological, experimental, and clinical data do not support such an association. In Spain, a total of 17 cases of suspected GBS and neuropathy had been reported to the National Drug ...
Olaosebikan A - - 1993
An isolated case of Ehler-Danlos syndrome, Type 1, in a two year old Zimbabwean boy is described. The patient presented with failure to thrive and inability to stand. Examination revealed hyperextensibility of the joints and skin, umbilical and inguinal hernias and a perimembranous ventricular septal defect. To the best of ...
Milford D V - - 1993
The haemolytic uraemic syndrome has been reported in children and adults with neoplasias treated with mitomycin C and occasionally in adults prior to chemotherapeutic treatment, but it has not been reported in a child prior to the use of cytotoxic drugs. This case report concerns the development of the haemolytic ...
Diesenhouse M C - - 1992
BACKGROUND: Heterochromia iridis, asymmetry of iris pigmentation, has been well described with congenital Horner syndrome. Acquired heterochromia associated with lesions in the ocular sympathetic pathways in adulthood, however, is rare. METHODS: Two cases are reported in which sympathectomy in adults resulted in ipsilateral Horner syndrome with heterochromia. In each case, ...
Haldeman S - - 1992
Cauda equina syndrome has been implicated as a potential complication of spinal manipulation. A review of the literature from 1911 to 1989 revealed ten reported cases of cauda equina syndrome in patients undergoing manipulation without anesthesia. This article presents three new cases where a temporal association was found between the ...
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