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Biomedical subjects

I Rapin

Publications and source records attributed to I Rapin.

At least 19 recordsLinked to original sources
PubMed1992

Fluent aphasia in children: definition and natural history.

We compared the course of a preschool child we followed for 4 years with published reports of 24 children with fluent aphasia. Our patient spoke fluently within 3 weeks of the injury. She was severely anomic and made many semantic paraphasic errors. Unlike other children with fluent aphasia, her prosody of speech was impaired initially, and her spontaneous language was dominated by stock phrases. Residual deficits include chronic impairment of auditory comprehension, repetition, and word retrieval. She has more disfluencies in spontaneous speech 4 years after her head injury than acutely. School achievement in reading and mathematics remains below age level. Attention to the timing of recovery of fluent speech and to the characteristics of receptive and expressive language over time will permit more accurate description of fluent aphasia in childhood.

Achievement↗
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↗
PubMed1975

GM2-gangliosidosis, AB variant: clinico-pathological study of a case.

Clinical and neuropathological studies of a case of AB variant GM2-gangliosidosis have been presented. The patient was a 14 months old black female infant who had "black cherry spot" in the retinas. The total activities of beta-galactosidase and N-acetyl-beta-hexosaminidase, as well as the proportion of hexosaminidase A and B components in her serum and leukocytes were normal when the assays were carried out with artificial fluorogenic substrate. Diagnosis of GM2-gangliosidosis AB variant was established by an abnormal increase of GM2-ganglioside in the biopsied brain tissue, similar to classical Tay-Sachs disease. Her clinical manifestation appeared to be similar but somewhat milder than those of classical Tay-Sachs disease. Light microscopic features of the cerebral biopsy were also closely similar to Tay-Sachs disease and Sandhoff disease but gliosis and neuronal loss were less pronounced. Electron microscopic study revealed numerous membranous cytoplasmic bodies (MCB) and zebra bodies in neurons. In addition, varieties of large intracytoplasmic inclusions in astrocytes, a feature distinctly different from classical Tay-Sachs disease, were observed. Numerous cytoplasmic inclusions were also present in oligodendroglia, pericytes and microglial cells.

Acetylglucosaminidase↗
PubMed1975

Ceroid lipofuscinosis.

Seven of ten patients with ceroid lipofuscinosis, including infantile, late infantile, juvenile, and atypical variants, presented with visual acuity loss. In the infantile case visual acuity loss was early and severe. Two patients with atypical variants did not develop ocular abnormalities. Children presenting with macular degeneration may have more extensive retinal involvement on electrophysiologic testing; neurologic evaluation may rule out the prodromal stages of lipofuscinosis.

Adolescent↗
PubMed1975

Cortical evoked potentials elicited by real speech words and human sounds.

Averaged evoked potentials were recorded from PZ and left and right temporo-parietal electodes to real speech words and human sounds in 8 right-handed subjects. Stimuli were presented in a "no task" condition where the subject was instructed to listen attentively, and a vigilance condition where the subject responded to a particular word or sound during a run of such stimuli. The vigilance condition produced two classes of stimuli:signals and non-signals. Evoked potentials to physically identical words or sounds were examined when they were "no task", non-signal and signal stimuli. P300 amplitude increased significantly as a function of increasing task demands going from "no task" to non-signal to signal. When a strict statistical criterion for multiple comparisons (Bonferroni test) was applied in looking for asymmetries between hemispheres, only 2 isolated left greater than right differences turned out to be significant. Review of the literature concerning evoked potential correlates of differential hemispheric processing pointed up flaws in design, statistical technique, and inconsistencies in reported findings which suggested that while evoked potentials may sometimes reflect differences in hemispheric functioning, this effect is marginal at best.

Adult↗
PubMed1975

The late positive component (P300) and information processing in sentences.

Averaged visual evoked potentials to sequentially flashed words comprising a sentence were recorded from vertex and left and right temporoparietal electrodes in 8 right-handed subjects. In condition 1 the sentence took the form: The -eel is on the shoe, in which the first grapheme was omitted from the second word, so that the subject did not know the meaning of the second word until he viewed the last word. In condition 2, the sentence took the form: The heel is on the shoe, in which the second word was given and the last word provided no further information. P300 latency to words which delivered information (last word of condition 1, second word of condition 2) were significantly longer than P300 latency to any of the other words in the sentence, as well as to the same position word in the other condition. Comparisons of P300 latencies to redundant words (the, is, on) within and between conditions showed no significant differences. P300 amplitude to the last word was significantly larger than P300 amplitude to any of the other words within the sentence, even in condition 2 where the second word delivered information. The major effect of information delivery was on P300 latency, while "syntactic closure" had its major effect on P300 amplitude. The fact that evoked potentials to all words had P300 components was attributed to the engagement of the P300 system whenever task-related language stimuli are used.

Adolescent↗