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 ...

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. ...

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 ...

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 ...

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 ...

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 ...

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 ...

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 ...

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 ...

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 ...

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 ...

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 ...

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 ...

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 ...

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 ...

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 ...

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 ...

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, ...

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 ...

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 ...

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 ...

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 ...

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 ...

Esophageal hematoma is a disorder characterized by the sudden development of pain, hematemesis, or dysphagia, commonly with minimal precipitant. We present the case of 59-year-old man with esophageal hematoma, precipitated by eating, with massive hematemesis requiring surgical intervention. A review of 31 additional cases in the literature since 1980 is ...

Premature cartilaginous calcification and nasal hypoplasia following first trimester exposure to warfarin are known as the Foetal Warfarin Syndrome (FWS). There are over 40 cases reported in the literature, many of which describe breathing and feeding difficulties in the first few months of life. We report a case where a ...

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, ...

We report 2 cases of Budd-Chiari syndrome that are due to complete membranous obstruction between the junction of the inferior vena cava and the right atrium. Both cases were treated successfully by King's bioptome breakthrough followed by balloon dilatation of the membrane. The patients showed remarkable symptomatic improvement and promising ...

Paget-Schroetter syndrome, more commonly called "effort thrombosis," has been well documented in the literature but is considered an uncommon cause of morbidity in the athletic population. We describe a case of axillary-subclavian vein thrombosis ("effort thrombosis") that presented as painless arm swelling in a high school football player. This case ...

This is a case report of juvenile gastrointestinal polyposis involving the gastrointestinal system from the stomach to the rectum. Only few cases have been reported and extra-intestinal manifestations of this syndrome include macrocephaly, hepatosplenomegaly, hypotonia, clubbing of fingers, anemia and protein-losing enteropathy. The disease usually has a poor prognosis, and ...

Behçet's syndrome is a disease of uncertain aetiology characterised by recurrent oral and genital ulcerations, ocular lesions and skin lesions. Although cases of this syndrome have been reported almost worldwide, the literature did not reveal any reports from this region. Management of this disorder is mainly palliative. However several treatment ...

We report a case of slowly progressive amusia and aprosody in association with orofacial and eyelid apraxias. The patient was independent in daily living activities. Insight, judgment, and behavior were intact. Her language was normal, and she demonstrated no limb, dressing, or constructional apraxia. She had no prosopagnosia, no visuospatial ...

Two cases of hypoglossia-hypodactylia syndrome are reported. This syndrome is characterized by reduction in the size of tongue, micrognathia and variable limb anomalies. In these present cases, both karyotypes revealed normal. The unrelated parents and siblings are normal. Drug exposure to the mother during pregnancy was negative. Since this syndrome ...

Six children (5 male, 1 female) of normal first cousin Arab parents were found to have Silver-Russell syndrome. Manifestations included intrauterine and postnatal growth retardation, lateral asymmetry, relatively large head, small triangular face with prominent ears, clinodactyly of the fifth fingers, disproportionate toes, and normal psychomotor development. Intrafamilial variability was ...

Acute posttraumatic (Sudeck's) atrophy of the upper extremity is well known. The symptoms and signs are out of proportion to what is to be expected from the inciting event. Typically, bone atrophy is characterized by a focal, patchy, periarticular demineralization pattern, which is usually transient. Remineralization occurs after successful treatment. ...

In a case of long lasting severe neglect resulting from a large right parieto-temporo-occipital infarct, vestibular stimulation produced a temporary reduction of the motor deficit and disappearance of the somatoparaphrenic delusion, in addition to the already reported improvement of extrapersonal and personal neglect and anosognosia. These data open new perspectives ...

The cases of Peters' anomaly seen over the past decade, at Hospital Ste-Justine in Montreal, are reviewed. Associated ocular anomalies were observed in 50% of cases while 60% of patients presented with associated systemic defects. It is clear, from these patients and those reported in the literature, that Peters' anomaly ...

Serious infections due to group A beta-hemolytic streptococcus (GABHS) have been reported with increasing frequency in recent years. We report a case of toxic shock syndrome (TSS) due to GABHS pharyngitis in an otherwise healthy 14-year-old boy. The organism was found to produce toxin A. To our knowledge, this is ...

The triad of ataxia, areflexia and ophthalmoplegia was first described as a variant of the Guillain-Barre syndrome in 1932 by Collier. In 1956, Miller Fisher reported three patients with ataxia, areflexia, and ophthalmoplegia as a separate entity. Since then, 223 cases of Miller Fisher syndrome have been published. The male/female ...

The authors review the literature on the oculo-mandibulo-facial syndrome and present the case of a six-year-old boy with congenital cataracts, microphthalmos, nystagmus, failure to thrive, dysmorphic features with a tiny pinched nose, mandibular hypoplasia, microstomia, double chin, chronic snoring, recurrent respiratory infections and dental problems. Chronic obstructive sleep apnoea with ...

Human and non-human primate research has shown that pathological processes affecting the temporal lobe, particularly the amygdala and hippocampus, are related to the development of the autistic syndrome. This case report describes a young male child with left temporal oligodendroglioma, who demonstrated a constellation of autistic behaviors meeting DSM-III-R criteria ...

Two cases of neuroleptic malignant syndrome presenting an unusual clinical course are reported. The first patient was untreated for the syndrome and recovered completely only after four months, while the other one was given dopaminergic and myorelaxing drugs only 10 days after the onset of the symptoms and died about ...

BACKGROUND: Restrictive dermopathy is a lethal genetic disorder consisting of abnormally tight skin, generalized joint contractures, distinctive facies, and pulmonary hypoplasia. Autosomal recessive inheritance has been suggested based on multiply affected siblings and some reports of parental consanguinity. This article describes two siblings with the restrictive dermopathy syndrome and reviews ...

The communication skills in a 4-year-old girl with Rett syndrome (RS) prior to, during and after the characteristic regression period are presented. The case study serves to provide a detailed description of the typical communication skills seen in this population, even though this child must be considered an atypical case ...

Triplets born to a Chinese woman consisted of 2 healthy boys and a girl with hemoglobin Bart's hydrops syndrome. The girl with hemoglobin Bart's hydrops syndrome, confirmed by gene analysis to be homozygous for alpha-thalassemia-1, survives for 27 months at the time of reporting. The dilemma in sustaining her life ...

We present an uncommon late sequela of a compartment syndrome of the leg that presented as liquefaction and calcification. Our experience with this clinical situation, along with the available literature review, suggests an approach to this diagnostic and therapeutic problem. We recommend that repeated needle aspiration be performed to lessen ...

A new case is reported of the curious disease described by Maroteaux as Microgeodic phalangeal syndrome in infancy, of unknown etiology. The purpose of this communication is to describe an additional case of this rare condition, described for the first time by Maroteaux in 1970, and affecting the fingers of ...

We report the case of a child with a variant of the Omenn immunodeficiency syndrome. He presented with erythroderma, lymphadenopathy, hepatosplenomegaly, failure to thrive, and recurrent purulent infections. The immunological studies showed marked disturbances in the subpopulations and functions of T lymphocytes, which suggests a defect in T cell differentiation ...

A 3-year-old girl (case 1) had a blue iris and albinotic fundus in the right eye and bilateral deafness. Her 6-month-old sister (case 2) had hypopigmented irides and fundi in both eyes and bilateral deafness. We found that the ratios of interinner canthal distance to interpupillary distance were less than ...

Asthmatic amyotrophy is becoming a well established clinical phenomenon. A polio-like syndrome, it is characterized by an asymmetrical lower motor neuron paralysis after an acute asthmatic episode. We are presenting three additional cases of this syndrome to add to the literature describing this phenomenon. Our cases are similar to the ...

Hypomandibular faciocranial dysostosis is a condition heretofore described only in a single case. We report the birth of an affected sister along with follow-up information on the initial surviving patient. While a primary error in neural crest development was postulated in this syndrome, subsequently discovered anatomical abnormalities suggest a more ...