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Biomedical subjects

A M Chutorian

Publications and source records attributed to A M Chutorian.

At least 19 recordsLinked to original sources
PubMed1994

Dopa-responsive dystonia simulating cerebral palsy.

Five patients presented in infancy or early childhood with various combinations of pyramidal and extrapyramidal signs with normal cognitive function. Their perinatal courses were unremarkable. In each patient, initial impressions listed by several examiners included spastic diplegia or cerebral palsy. Later in each course, either extrapyramidal features or progression suggested dopa-responsive dystonia. In 4 of the 5 children, cerebrospinal fluid was obtained and disclosed reduced levels of biopterin, neopterin, and homovanillic acid in all 4. Levodopa therapy resulted in prompt improvement with normal function returning within 6 months. The disappearance of the "spasticity," extensor plantar responses, and extrapyramidal signs, following levodopa therapy, confirmed the diagnosis of doparesponsive dystonia in these patients. Three had apparently sporadic disease; the other 2 were siblings with an affected paternal grandmother. Three had onset in infancy with delayed sitting and walking before the appearance of overt dystonia; infantile onset is infrequent in dopa-responsive dystonia. The other 2 had normal milestones, but developed gait disorders with prominent imbalance in early childhood. The diagnosis of dopa-responsive dystonia should be considered in children with unexplained or atypical "cerebral palsy."

Adolescent↗
PubMed1980

Alpha-locus hexosaminidase genetic compound with juvenile gangliosidosis phenotype: clinical, genetic, and biochemical studies.

A 3-year-old boy developed progressive neurological deterioration in his third year, characterized by dementia, ataxia, myoclonic jerks, and bilateral macular cherry-red spots. Hexosaminidase A (HEX A) was partially decreased in the patient's serum, leukocytes, and cultured skin fibroblasts. Hexosaminidase was studied in serum and leukocytes from family members. Four members of the paternal branch appeared to be carriers of classical infantile Tay-Sachs allele, HEX alpha 2, probably receiving the gene from one great-grandparent of Ashkenazi origin. In the maternal branch, no one was a carrier of classical infantile Tay-Sachs disease, but five individuals were carriers of a milder alpha-locus defect. The patient, therefore, was a genetic compound of two different alpha-locus hexosaminidase mutations. At least 21 families with late-infantile or juvenile GM2 gangliosidosis have been reported, 18 of them with alpha-locus mutations, and three with beta-locus mutations. Genetic compounds of hexosaminidase have been reported in at least seven families, five with alpha-locus mutations and two with beta-locus mutations. The compound had the phenotype of infantile Tay-Sachs disease in one family, infantile Sandhoff disease in another, and the normal phenotype in the rest.

Child, Preschool↗
PubMed1979

Neonatal polycystic encephalomalacia: four new cases and review of the literature.

Four patients with pathologically documented polycystic cavitation of the brain had an acute illness characterised by stupor, seizures, CSF erythrocytic and monocytic pleocytosis, increased CSF protein, and diminished CSF glucose. The acute phase was followed by chronic decerebation, disappearance of the CSF abnormalities, and radiological evidence of polycystic cavitation of the brain. In one patient Herpes simplex was isolated from a cutaneous vesicle. The CSF abnormalities in the disorder have received scant attention, and have not previously been correlated with the acute and chronic stages. Clearly some cases are associated with Herpes simplex virus. The clinical profile should now be sufficiently distinctive to permit future identification of the aetiology in more neonates.

Brain↗
PubMed1979

HLA typing and Guillain-Barré syndrome.

In an effort to determine if there might be an association between Guillain-Barré syndrome and specific antigens of the HLA system, 18 patients with Guillain-Barré syndrome were typed for HLA-A, B, and D antigens. No statistically significant relationship was established by this study.

HLA Antigens↗
PubMed1979

Increased intraventricular pressure without ventriculomegaly in children with shunts: "normal volume" hydrocephalus.

Five patients with shunt-dependent hydrocephalus were observed to have apparently normal ventricular size despite marked increases in ventricular pressure after shunt malfunction. Elastance (dP/dV) was determined in four of these patients by removing increments of cerebrospinal fluid and measuring the resulting pressure. These patients without ventricular enlargement and with markedly increased ventricular pressure had high elastance. This group of patients with "normal volume" hydrocephalus had distal shunt occlusions, in contrast to previously reported patients with cephalic shunt obstructions after ventricular decompression. Initial shunting in early infancy, prolonged shunt dependency, and lack of recent shunt revision were common factors in these patients. Markedly elevated pressure with normal volume is a threatening clinical entity, requiring prompt surgical intervention

Abducens Nerve↗
PubMed1978

Tissue carnitine in Reye syndrome.

Skeletal muscle carnitine palmityltransferase and muscle or liver carnitine content were determined in biopsies from children during and after attacks of Reye syndrome. No consistent abnormality of enzyme or cofactor was found. Reye syndrome is biochemically distinct from the clinically similar syndrome of systemic carnitine deficiency.

Acyltransferases↗
PubMed1977

Pseudotumor cerebri of childhood.

In a study of 38 children with pseudotumor cerebri, the evaluation of the response to treatment received special emphasis. Sixteen children underwent spontaneous remission following diagnosis, or improved following sequential lumbar punctures. Sixteen other children were treated with corticosteroids. Of this group, four children who failed to respond to repeated lumbar punctures prior to the initiation of corticosteroid therapy, had their subsequent course on varying doses of steroids charted clinically and by frequent measurement of the CSF pressure. An Inverse relationship of steroid dosage to CSF pressure was documented, as was the children's dependence on corticosteroid therapy for continued remission as the pseudotumor cerebri ran its course. In twelve other children, treatment with corticosteroids may have been effective. Two children had neurosurgical procedures. Permanent visual deficit did not occur in any child.

Adolescent↗
PubMed1976

The prevention of postprandial seizures in children.

Three boys are reported who showed typical autonomic manifestations of hypoglycemia in association with stupor or convulsive seizures two to four hours after eating a meal. During glucose tolerance tests all three children had high peaks in plasma glucose within the first hour and subsequently developed symptoms typical of their clinical disorders on at least one occasion. Two of the boys showed appropriate responses of plasma insulin to oral glucose loading; the third showed a delay in peak plasma insulin. All three children responded promptly and completely to simple dietary management.

Blood Glucose↗