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Biomedical subjects

I Rapin

Publications and source records attributed to I Rapin.

At least 91 records · Page 5Linked to original sources
PubMed1982

Nonconvulsive epileptiform activity appearing as ataxia.

Ataxia may be the result of otherwise silent epileptiform activity. We studied three patients, between 3 and 5 years of age, whose initial complaint was unsteadiness of gait. Each one of the patients had an epileptiform EEG with bursts of slow spike and wave activity. Each had normal results of diagnostic studies for other causes of ataxia. Specifically, none had anticonvulsant drug levels in the toxic range. Modification of the anticonvulsant regimen resulted in dramatic clinical and EEG improvement. Nonconvulsive epileptiform activity has been called pseudoataxia in the scant literature on this subject. This process should be considered in the evaluation of ataxia in children.

Adolescent↗
PubMed1982

Microtubule disarray in cortical dendrites and neurobehavioral failure. I. Golgi and electron microscopic studies.

Cortical biopsies obtained from 5 young children with severe neurobehavioral retardation of unknown etiology have been analyzed using Golgi and EM techniques. The normally cylindrical geometry of individual dendritic processes of pyramidal and non-pyramidal neurons is interrupted by the formation of distinct varicosities. While over 90% of observed cells are affected, the extent of varicosity formation varies from cell to cell and is most prominent in medium and small pyramidal cells. Varicosities may occur in the periphery only, or they may extend proximally to primary dendritic trunks. Accompanying changes include thin and irregular proximal processes, loss of dendritic spines, and predominance of long, thin tortuous spines. Ultrastructural analysis reveals characteristic changes in the cytoskeleton of these processes. Microtubules, within the larger proximal processes, twist and turn, relative to one another and relative to the long axis of the process. In varicose regions, microtubules course in roughly parallel array through constricted segments, only to splay away from one another on entering an expansion. Synapses are evident on constricted and expanded segments, as well as on spines. Alterations in dendritic structure of both pyramidal and non-pyramidal neurons may represent a primary target in the pathobiological process underlying neurobehavioral failure.

Cerebral Cortex↗
PubMed1981

Chronic GM1 gangliosidosis presenting as dystonia: I. Clinical and pathological features.

Clinical and pathological studies are reported from investigation of a 27-year-old man with GM1 gangliosidosis who experienced a slowly progressive dystonia that began about age 4, primarily affected the face and limbs, and eventually became almost totally incapacitating. There was only mild intellectual deterioration; myoclonus, seizures, and macular cherry-red spots were never observed. Postmortem examination revealed intraneuronal storage, localized predominantly to the basal ganglia, in which neurons contained round, multilamellated inclusions. Golgi studies revealed meganeurites arising from medium spiny neurons. Other areas of the central nervous system appeared relatively unaffected, although small basilar dilatations were observed in scattered cortical pyramidal neurons and Purkinje cell dendrites showed focal swellings. Vacuolated cells of the reticuloendothelial system were observed, including Kupffer cells and histiocytes in the spleen, marrow, and intestinal tract. Biochemical analysis revealed a generalized beta-galactosidase deficiency with specific accumulation of GM1 ganglioside in the basal ganglia.

Adult↗
PubMed1980

The AB-variant of GM2-gangliosidosis. Clinical, biochemical, and pathological studies of two patients.

Clinical, neuropathological, and biochemical studies are reported in two children with the AB-variant of GM2-gangliosidosis. One patient had become symptomatic by 1--1.5 years, initially showing cerebellar signs, and then progressive psychomotor retardation, with hypotonia, spasticity, dementia, and macular cherry red spots, until death at the age of 4.5 years. The second patient showed an earlier onset of retardation and a more rapidly progressive course. At postmortem, the brains were of normal or near normal weights and displayed grossly only mild cerebral cortical and cerebellar atrophy, and mild pallor or attenuation of the white matter. Neuronal storage was widespread throughout the CNS, and both neurons and glia contained a variety of abnormal, membranous inclusions. Visceral organs were not involved. Ganglioside sialic acid was increased several fold in gray matter, with GM2 the predominant ganglioside species. N-acetyl-beta-glucosaminidase activities in serum, leukocytes, fibroblasts, and postmortem gray matter, assayed with an artificial, fluorogenic substrate, were normal, as were activities of other lysosomal hydrolases.

Atrophy↗
PubMed1980

Language disorders in preschool children: predictors of outcome -- a preliminary report --.

Child neurologists are often asked to evaluate young children who have failed to develop speech despite adequate hearing and skills for non-verbal tasks. At our center, in addition to a standard neurologic evaluation, hearing test, and EEG, we obtain videotape recordings of the child and his mother in play interaction. These observations enable us to assess the child's non-verbal communicative abilities, his affect, his ability to utilize toys symbolically and creatively, and his attention span. Approximately 20 preschool children who were non-verbal or had very limited speech at entry into our study are being followed longitudinally. Readily observable aspects of language and behavior were scored by reviewed the serial videotapes obtained over a 2-year period. Predictors of outcome that do not require detailed linguistic analysis of the child's utterances are tentatively identified and discussed.

Brain Damage, Chronic↗
PubMed1979

Cockayne syndrome: unusual neuropathological findings and review of the literature.

Two siblings with Cockayne syndrome (CS) are described and the literature on the subject is briefly reviewed. Of particular interest were the unusual neuropathological findings in 1 of the patients. These included microcephaly, white matter atrophy with patchy loss of myelinated fibers, calcifications of the basal ganglia, occasional ferrugination of cerebral and cerebellar neurons, and severe cerebellar degeneration. Findings not previously reported in CS were proliferation of extremely bizarre astrocytes, neurofibrillary tnagles, and pigmentation of the globus pallidus. We conclude that brain involvement in CS is a result of primary degeneration in the central nervous system rather than being secondary to angiopathy or normal pressure hydrocephalus, as previously suggested.

Adolescent↗
PubMed1978

Hypoplasia of hemispheric white matter, peculiar pallidal changes and dysplastic inferior olives in a child with psychomotor retardation.

A 25-month-old child with nonprogressive psychomotor retardation is described. Symmetrical hypoplasia of hemispheric white matter with an apparently intact cortex was a major finding. Maternal trauma to abdomen at 25 weeks of gestation was probably implicated in precipitating the condition. Also, changes resembling hypertrophy of the inferior olives were found in the pallida and were associated with dysplasia of the inferior olivary nuclei. There were other findings to suggest that the pallidal and olivary changes were secondary to deafferentation.

Abdominal Injuries↗
PubMed1978

The cherry-red spot--myoclonus syndrome.

Three young women, 2 of them sisters, were found to have cherry-red spots at the macula when they were children. In 1 patient the spots faded before she was 20 years old. In all 3, incapacitating myoclonus and insidious visual loss developed in adolescence. Their intellect is normal and they have no gargoyle-like features. A variety of lysosomal inclusions were noted in cortical neurons in a biopsy specimen taken from 1 patient in childhood. Liver biopsy fifteen years later revealed mucopolysaccharide-like inclusions in Kupffer cells and hepatocytes. Lipofuscin bodies were abundant in neurons and hepatocytes. The patients excrete sialic acid-containing oligosaccharides not present in normal urine, suggesting a defect in degradation of glycoproteins. The specific enzymatic defect in these patients appears to be a deficiency of lysosomal neuraminidase.

Adolescent↗
PubMed1978

Consequences of congenital hearing loss - a longterm view.

Responsibility for detection of hearing loss at the earliest possible age rests on the shoulders of the medical profession. Early detection and presentation of language through all available sensory channels, most notably the visual, are essential since deaf children of hearing parents, the vast majority of the deaf, characteristically remain grossly deficient linguistically despite years of special schooling. The deaf children of deaf parents, who are not as deprived linguistically since they learn a manual language at the normal age of language acquisition, tend to be less severely handicapped than the deaf children of hearing parents. Deafness is a hidden handicap in infancy although lack of vestibular function may delay motor milestones like sitting and walking but does not constitute a serious problem after they are achieved. The average 18 year old deaf student achieves a reading level comparable to that of a hearing fourth grader and the mathematical skills of a sixth grader. He is also deficient in science, social studies, and general information despite his average scores on nonverbal intelligence tests. Although many deaf students drop out of school before graduation and few go on to higher education, congenitally deaf adults are usually self-supporting and independent. Eighty per cent of the deaf marry hearing impaired persons. The deaf are greatly assisted by the cohesive deaf community existing in every sizable city which provides a social, recreational, and economic framework to their lives. As a result, delinquency and psychiatric illness are not higher among the deaf than the hearing, despite the difficulties they have dealing with the complexities of the hearing society.

Adolescent↗
PubMed1977

Electrophysiological studies in two patients with cherry red spot--myoclonus syndrome.

Two unrelated patients with the cherry red spot--myoclonus syndrome, a rare chronic neuronal storage disorder that begins in childhood with progressive myoclonus, cherry red spots at the macula, and easily controlled seizures, but no dementia, have been investigated electrophysiologically in order to characterize the myoclonic and electroencephalographic features of this syndrome. Phenomenologically, the disease most closely resembles the Ramsay Hunt syndrome, although certain unique features are noted and the patients are not photosensitive. Pathologically and clinically, the disease is related to mucolipidosis type I and atypical cases of GM1 gangliosidosis, and the EEGs obtained from our patients are identical to those seen in mucolipidosis type I. Because of the unusual clinical picture presented in this disease, there should be no difficulty in differentiating it from other more malignant storage disorders and progressive myoclonus epilepsies of childhood. Electrophysiological findings suggest that the myoclonic jerks do not originate cortically, but the specific subcortical generators have not been identified.

Adolescent↗
PubMed1977

Verbal auditory agnosia in children.

Four (possibly five) boys are described with a profound comprehension deficit for acoustic language, leading to severe or complete abolition of expressive speech. One boy had presumed megalencephaly from birth but was of superior intelligence. He had a severe articulation deficit from early childhood, with delayed acquisition of speech. Another boy is thought to have a small angiomatous anomaly in the depth of the left parietal lobe. No brain lesions are known in the other three. Evidence for bilateral brain dysfunction consists of minor motor abnormalities in three boys, oromotor deficits in two boys, and bilaterally synchronous diffuse or independent focal paroxysmal discharges in the EEG of three, possibly four, of the boys. Seizures have occurred in only three boys, and have been easily controlled with anticonvulsants. One boy with a grossly abnormal EEG has had no clinical seizures to date and has not benefited frome one year of anticonvulsant therapy. Two of the boys are brothers, including the boy in whome the diagnosis is questionable since speech was never normal and since he has had neither seizures for an abnormal EEG. The severity of EEG abnormalities did not correlate closely with the course of the language deficit. The relationship of this syndrome to acquired aphasia in children, to Wernicke's aphasia and pure word deafness in adults, and to developmental lagnuage disability with predominantly receptive deficits, is discussed. One child illustrated the close association between writing and phonologic encoding and decoding operations, and two children the preservation of linguistic skills provided the acoustic channel was by-passed and language presented visually. This latter point has been emphasized because of its implications for the remedial education of children with this syndrome.

Agnosia↗
PubMed1976

Adult (chronic) GM2 gangliosidosis. Atypical spinocerebellar degeneration in a Jewish sibship.

Two adult Ashkenazi Jewish siblings have had slowly progressive deterioration of gait and posture since early childhood, distal to proximal muscle atrophy, pes cavus, foot drop, spasticity, mild ataxia of limbs and trunk, dystonic features, and dysarthria. Vision and optic fundi are normal, verbal intelligence is stable, and no seizures have occurred. The sister of the patients died at 16 years of age with the same illness. Autopsy showed diffuse neuronal storage, predominating in subcortical areas, consisting of membranocytoplasmic bodies, zebra bodies, and complex lamellar structures. GM2 ganglioside was increased in her brain. Hexosaminidase A was decreased in serum and leukocytes of the living patients, and was in the range for carriers of Tay-Sachs disease in their parents. The disease found in this family represents a new, more indolent variant of GM2 gangliosidosis.

Adult↗
PubMed1976

Mucolipidosis IV. Clinical, ultrastructural, histochemical, and chemical studies of a case, including a brain biopsy.

A 7-year-old Ashkenazi Jewish boy with normal early development started to regress at 8 months of age and made no further developmental progress. Corneal clouding was noted at age 10 months. Corneal and conjunctival biopsy at 14 months, cerebral biopsy at 24 months, and fibroblast cultures at 32 months showed lysosomal inclusions, suggesting the storage of lipid-like and mucopolysaccharide-like material. In the brain, dense fluorescent inclusions resembled those in ceroid-lipofuscinosis. Total ganglioside content of white matter was raised, but the pattern was normal. The level of nonlipid hexosamine in the brain was normal. The cornea and conjunctiva contained electronlucent vacuoles resembling those in the mucopolysaccharidoses. Cornea, brain, and lymphocytes contained concentric membranous lamellar structures reminiscent of those in the gangliosidoses. The clinical picture and ultrastructural findings support the impression that this case belongs to a new variant of the mucolipidoses, mucolipidosis IV.

Cerebral Cortex↗
PubMed1976

Primary intracranial Burkitt's lymphoma in an infant.

A case of intracranial Burkitt's lymphoma is reported in a child whose symptoms began at 3 months of age with a definite histologic diagnosis established at 18 months. Serologic studies demonstrated high antibody titers to Epstein-Barr virus (EBV) in the patient and in four out of five members of the immediate family. The patient also demonstrated immunity to antigens derived from African Burkitt's lymphoma cell lines. The autopsy findings strongly support the case for the primary intracranial origin of the neoplasm and a perinatal infection with EBV is probable in this case.

Antibodies, Viral↗
PubMed1976

Patterns of anomalies in children with malformed ears.

Sixteen children with anomalies of the auricle and/or middle ear who presented malformations of the face, mouth, upper airway, spine, limbs, heart, gastrointestinal (GI), and/or genitourinary (GU) systems, were described. While clusters of anomalies suggested syndromes such as the oculo-auriculo-vertebral syndrome of Goldenhar, hamifacial microsomia, mandibulo-facial dysostosis (Treacher Collins syndrome), Pierre Robin, Klippel-Feil, Moebius, Duane, and/or VATER syndromes, many children did not fit what are usually considered even minimal criteria for these syndromes. Several children had malformations which fit the description of more than one syndrome. The importance of investigating the children for unsuspected anomalies, especially of the GU system, was emphasized. Life threatening problems in this group consisted of airway problems, congenital heart disease, and major anomalies of the GI and GU systems. Better management of sucking, swallowing and airway problems might have decreased the early morbidity and mortality (3/16) in this group. Children with multiple defacing anomalies may not be mentally retarded so that aggressive management of their visceral anomalies and hearing problems, and early educational intervention are mandatory. Delay in development may be due to hearing loss, vestibular impairment, ataxia, the consequences of early malnutrition, and multiple hospitalizations rather than to mental retardation. A pessimistic attitude in infancy is unwarranted since it is impossible to predict which children will end up competitive individuals.

Abnormalities, Multiple↗