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Biomedical subjects

R Amit

Publications and source records attributed to R Amit.

29 records · Page 2Linked to original sources
PubMed1986

Familial ataxia with extreme difference in age of clinical onset.

A female child and her father with cerebellar ataxia and retinitis pigmentosa are described. The father's clinical onset was in middle age, the course of his disease mild and his pneumoencephalogram showed cerebellar atrophy. On the other hand, his daughter's clinical onset was in late infancy, her course was rapidly progressive with manifestations of brainstem dysfunction. She had abnormal brainstem auditory evoked potentials and the computerized tomography scan showed atrophy of the posterior fossa. Recently a paternal aunt developed cerebellar ataxia at the age of fifty. The unusual early age of onset of dominantly inherited cerebellar ataxia and the extreme variation in expression of clinical manifestation are discussed.

Child, Preschool↗
PubMed1986

Termination of absence status and suppression of inter-ictal bursts with phenytoin: case report.

An 11 year old female with a first episode of absence status is described. Clinical manifestations, ictal and post-ictal EEGs were generalized. An IV loading dose of phenytoin resulted in an abrupt cessation of both clinical and EEG ictal phenomena, and later was found to be effective in suppressing inter-ictal bursts of 3 per second spike and slow wave discharges. This response is unusual since phenytoin is considered ineffective in controlling petit mal epilepsy.

Child↗
PubMed1986

Clinical and laboratory study in 22 patients with inherited hyperammonemic syndromes.

Twenty-two patients with inherited hyperammonemic syndromes are presented. These patients represent 22 different families. The diagnosis was based mainly on family history, blood ammonium levels, acid base balance, urinary orotic acid, urinary and plasma amino acids and organic acids. The final diagnosis was confirmed by determination of liver enzyme activity. In 12 patients (54%), the first clinical manifestations were noticed after the neonatal period; 7 patients (31%) were diagnosed after infancy, and 8 (23%) after the age of 8 years. Two patients who represent the late-onset group of inherited hyperammonemic syndromes are presented in detail. The three most common diagnoses were ornithine transcarbamoylase deficiency, carbamoyl phosphate synthetase deficiency, and lysinuric protein intolerance, which comprised 59% of the diagnosed patients. Our data, based on one of the largest series reported, reveal a relatively large percentage of late-onset inherited hyperammonemic syndromes as compared with previous reports.

Amino Acid Metabolism, Inborn Errors↗
PubMed1981

Vitamin E deficiency in Werdnig-Hoffmann disease.

Vitamin E levels were measured in the plasma of infants and children with various neuromuscular disorders. Seven of 8 infants with Werdnig-Hoffmann disease (WHD) had a significantly lower plasma vitamin E level (p less than 0.01) than age-matched normal controls, children with congenital myopathies, or children with muscular dystrophy. Vitamin E deficiency in WHD is not caused by malabsorption. A therapeutic trial of vitamin E in 3 patients with WHD did not change the natural course of the disease. Vitamin E deficiency may play a role in the pathogenesis of WHD.

Child↗
PubMedDate not supplied

Acute, severe, central and peripheral nervous system combined demyelination.

Acute disseminated encephalomyelopathy and Guillain-Barré syndrome are both immunologically mediated para-infectious demyelinating disorders, the former affecting the central nervous system and the latter affecting the peripheral nervous system. The term encephalo-myelo-radiculo-neuropathy was introduced to describe cases in which major involvement of one system, most commonly the peripheral, was associated with mild involvement of the other. We present a case of acute severe demyelination simultaneously affecting both the central and the peripheral nervous systems in a 10-year-old female. This clinical picture combines acute disseminated encephalomyelopathy and Guillain-Barré syndrome, both of which are extremely severe.

Acute Disease↗
PubMedDate not supplied

Ring 18 chromosome with mental retardation, hemidysmorphism, and mitochondrial encephalomyopathy.

A 2 1/2-year-old female is reported with ring 18 chromosome syndrome. The chromosomal abnormality was found in all examined leukocytes and cultured skin fibroblasts. Besides the usual clinical characteristics of this syndrome, two additional features are described that have not been reported previously: right hemidysmorphism, including hypertrophy of the tongue and lower extremity; coloboma of the lower right side of the gums; atretic external right ear canal; and hypotonia with mitochondrial encephalomyopathy associated with excessive ketonemia during normal food intake and a large increase after overnight fast.

Brain Diseases↗
PubMedDate not supplied

Prolonged electrocerebral silent barbiturate coma in intractable seizure disorders.

Barbiturate coma (BC) is a known modality for terminating resistant convulsive status epilepticus. It is usually applied until seizure activity ends. We recently adopted a modified protocol of prolonged, electrocerebral silent BC to treat patients with chronic seizure activity resistant to multiple regimens of antiepileptic drugs. Four patients, aged 4 months to 10 years, with long-standing intractable generalized seizures were treated. Seizure frequency ranged from one to two to numerous times per day. Following BC, one patient has been seizure free during 8 months of follow-up, and another has had only two seizures in 18 months. A 4-month-old infant was seizure-free for 2 weeks after BC and then died from underlying CNS disease. A 10-year-old girl died during BC from shock and hyperpyrexia. The results obtained in our patients indicate that prolonged electrocerebral silent BC may exert a beneficial long-term effect in treatment of intractable seizure disorders. This procedure might also be beneficial in other forms of epilepsy.

Child↗