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Biomedical subjects

I Rapin

Publications and source records attributed to I Rapin.

At least 73 records · Page 4Linked to original sources
PubMed1988

Disorders of higher cerebral function in preschool children. 1.

In preschoolers, disorders of higher cerebral function are most likely to present as inadequate development of language, while in school-age children, learning disabilities and attention deficit predominate. The main considerations in the differential diagnosis in preschoolers with inadequate language are hearing loss, mental deficiency, dysphasia, and autistic spectrum disorders. Attention to the child's ability to engage in symbolic play and communicate meaningfully is the key to this often baffling differential diagnosis. With the exception of definitive assessment of hearing, classic medical investigations are seldom informative because structural brain lesions and metabolic errors are much rarer etiologies than prenatal and genetic influences on brain development. While many children improve with age, the underlying deficit(s) usually persists. The role of the physician is to detect the developmental problem, give the parents a correct diagnosis, refer the child for appropriate investigation and intervention, and provide follow-up and counseling. Early diagnosis is essential for effective remediation.

Attention Deficit Disorder with Hyperactivity↗
PubMed1988

Clinico-pathological variability in the childhood neuronal ceroid-lipofuscinoses and new observations on glycoprotein abnormalities.

Our 86 cases of neuronal ceroid-lipofuscinosis (NCL) included 7 children with the infantile variant, 28 with the late infantile variant, and 51 with the juvenile variant. Thirty-one cases were drawn from a NCL registry and were not evaluated personally by the authors. Another 30 cases from the registry were not included because of inadequate data. The clinical course was subacute in most children with the infantile and late infantile variants and chronic in the juvenile variant. Sixteen of 86 cases (19%) were considered to be atypical clinically [3/7 (43%) with the infantile variant, 3/28 (11%) with the late infantile variant, and 10/51 (20%) with the juvenile variant]. Clinical variability among and between families was most striking in the juvenile variant. Pathological investigations of skin, buffy coat and/or brain showed atypical and/or more than one type of cytoplasmic inclusions in 10/50 (20%) of late infantile and juvenile variants. All of the children with the infantile variant had granular, osmiophilic profile in tissues. Biochemical studies on the glycoproteins of cultured fibroblasts in three cases of juvenile NCL showed that there was a higher proportion of one size class of N-linked oligosaccharides and a higher proportion of mannose-containing glycoproteins in NCL than in control cells. This supports previous lectin histochemical studies of glycoconjugates in skin of juvenile NCL [Wisniewski and Szumanska, 1986] and suggests that there may be defects in the processing of N-linked oligosaccharides in the glycoproteins of juvenile NCL.

Adolescent↗
PubMed1988

Children with inadequate language development: management guidelines for otolaryngologists.

Otolaryngologists are in the front line of physicians asked to evaluate children whose language development is lagging. The 4 most prevalent conditions to consider in the differential diagnosis are impaired hearing, mental deficiency, developmental language disorder or dysphasia, and one of the disorders on the autistic spectrum. Guidelines on when to become concerned and what to do about such children are provided. Early diagnosis is essential in order to provide remedial education at the language learning age when intervention is likely to be most efficacious.

Autistic Disorder↗
PubMed1988

Spino-cerebellar degeneration with polyneuropathy associated with ceroid lipofuscinosis in one family.

There are several clinically distinct forms of neuronal ceroid lipofuscinosis whose presentation and pathology are usually homogeneous within families. Several atypical variants have also been reported. We have studied an inbred sibship in which neuronal ceroid lipofuscinosis appeared to present in two completely different ways. In the proband, the course was compatible with a somewhat atypical juvenile variant. Ataxia and spasticity started at 4.5 years, followed by blindness with optic atrophy, intractable seizures, dementia, and death at 14 years. Atypical features included areflexia, hypotonia, and ataxia. Electron microscopic studies of her skin and her rectal ganglion cells showed lucent, dense, and fingerprint inclusions that were also found in the central nervous system at autopsy. Her brother and sister developed difficulty walking at ages 8.5 and 10.5 years and are alive at 24 and 18 years. They presented with slowly progressive spinocerebellar degeneration with sensorimotor neuropathy without dementia, seizures, or visual impairment. Lysosomal enzymes and lipoprotein analysis were normal in all three siblings and their parents. Elevated dolichol in the urine and lucent, dense, and fingerprint inclusions in skin, cutaneous nerve, buffy coat lymphocytes in both siblings and in the sural nerve of the brother suggest that their disease may represent a novel phenotype of neuronal ceroid lipofuscinosis. While it is possible that two different recessive genes may be segregating in this consanguineous family, we cannot dismiss the possibility that variability of gene expression may account for the divergent phenotypes.

Adolescent↗
PubMed1988

Recruiting parents of children with a fatal disease as co-investigators.

Information about Rett syndrome should be imparted to parents of newly diagnosed children by a physician who is familiar with the disease and the care of affected children. Symptomatic treatment should be discussed and a follow-up schedule planned. Parents should be referred to a support group for parents of similarly afflicted children and should be informed about current research efforts. The contribution to knowledge about Rett syndrome that can be made by allowing postmortem examination of the child should be emphasized; parents can thereby be enlisted as co-investigators into this poorly understood disease.

Adaptation, Psychological↗
PubMed1988

Syndromes in developmental dysphasia and adult aphasia.

We have attempted to draw some parallels between syndromes of adult acquired aphasia and of childhood developmental dysphasia. There appear to be two syndromes that are almost exact duplicates in the adults and the children: (a) pure word deafness and verbal auditory agnosia, and (b) aphemia and verbal dyspraxia. Two other syndromes seem to have rather close but not exact counterparts: Broca's aphasia and the phonologic-syntactic deficit syndrome, and transcortical sensory aphasia and the semantic-pragmatic deficit syndrome. There are two dysphasic syndromes, the phonologic production deficit syndrome and the lexical-syntactic deficit syndrome, that do not seem to have close adult counterparts. Neither of these dysphasic syndromes has been defined in adequate linguistic detail, and it is possible that their description may have to be modified when more data become available. Whether these comparisons between dysphasias and aphasias have heuristic value for guiding external validation studies of the clinically defined dysphasic syndromes of preschool children remains to be determined. Our purpose was to formulate hypotheses as to which cerebral systems are likely to be dysfunctional in children with clinically defined dysphasic syndromes. We recognize that the disorders of language acquisition and those of overlearned adult language have fundamental differences, and that plasticity of the child's developing brain introduces further complexities. Nevertheless, it seems reasonable to think that there are constants in brain organization that span all ages. Looking for language deficits common to aphasic adults (whose lesions can usually be delineated with contemporary neuroimaging techniques) and to dysphasic children (in whom there are rarely any neurologic clues) may be a fruitful way to begin to define the cerebral correlates of the children's deficits.

Adult↗
PubMed1987

Neurologic findings in children with ear malformations.

Cephalic neural crest cells contribute to the formation of the external and middle ears, the supporting cells of the statoacoustic ganglion, other cranial nerve components, and the face. The anlage of otic sensory structures receive inductive stimuli from adjacent rhombencephalic tissue. The complex series of interactions that guide organogenesis of the outer, middle, and inner ear structures may explain why neurologic dysfunction is likely to be associated with malformations of the ear. We reviewed the records of 100 patients with complex ear anomalies with or without hearing loss. Mean age was 4.2 years (range 1 day-27 years). Malformations, either bilateral (70) or unilateral (30), involved the external ear (94), middle ear (16), and/or inner ear (12). Eighty-five patients had neurologic dysfunction. Cranial nerve dysfunction was found in 56 patients and involved nerves VIII (39 auditory and/or vestibular), VII (22), II (11), VI (8), V (4), III (3), X (3), XII (1), and IX (1). Sixty-four patients had evidence of central nervous system dysfunction such as mental deficiency/developmental delay (44), non-paretic gait disorders (17), hypotonia (16), microcephaly (13), seizures (8), motor deficits (8), autistic features (7), and radiographically confirmed intracranial abnormalities (5). Eleven of 19 children with hypoactive vestibules had delayed motor development or poor balance. Seventy-four patients had anomalies in other organ systems: 56 craniofacial, 28 osseous, 19 cardiac, 16 genito-urinary, 14 ocular, 11 gastrointestinal, and 7 cutaneous. Sixty-one patients had syndromic conditions, 32 of them branchial arch syndromes. The level of cognitive competence was not related to severity of craniofacial, ear, or cranial nerve abnormality. Children with ear malformations deserve neurologic and pediatric evaluations in addition to an otologic work-up.

Abnormalities, Multiple↗
PubMed1986

Pseudo-Zellweger syndrome: deficiencies in several peroxisomal oxidative activities.

We describe an infant girl with a clinical, chemical, and pathologic syndrome remarkably similar to Zellweger cerebrohepatorenal syndrome but whose liver parenchymal cells contained abundant peroxisomes. Peroxisomal L-alpha hydroxy acid oxidase, catalase, and the plasmalogen synthesizing enzyme dihydroxy acetone phosphate-acyl transferase activities were normal; other peroxisomal enzymatic activities, including fatty acyl-CoA oxidase and D-amino acid oxidase, were reduced by 80% to 85%. Oxidation of bile acids and pipecolic acid was also deficient. Autopsy revealed the presence of neuronal heterotopia, renal cortical cysts, adrenal atrophy, and accumulation of very long chain fatty acids. The clinical and pathologic features of this case of "pseudo-Zellweger syndrome" reflect a deficiency in multiple peroxisomal activities rather than a defect in peroxisomal biogenesis. The deficient enzymatic activities require flavin adenine dinucleotide, and the underlying defect may be in the utilization of this cofactor.

Acyl-CoA Oxidase↗
PubMed1986

Myoclonus in neuronal storage and Lafora diseases.

Genetic storage diseases with prominent myoclonus include classic infantile Tay-Sachs disease and juvenile neuropathic Gaucher's disease among the sphingolipidoses, most of the variants of the sialidoses and ceroid-lipofuscinoses, and Lafora disease. The character of the myoclonus differs from disease to disease and often changes as the disease runs its course. For example, massive myoclonic jerks to sound with rapid habituation and a prolonged refractory period are characteristic of the early stages of Tay-Sachs disease; children with late infantile ceroid-lipofuscinosis are most sensitive to light flashes below 3 Hz, those with juvenile Gaucher's disease at 6 to 10 Hz, and those with Lafora disease at 15 to 20 Hz, whereas young adults with sialidosis are not sensitive to either light or sound but are highly sensitive to somatosensory stimulation and movement. Some patients with sialidosis were found to have two distinct types of myoclonus: (a) a stimulus-insensitive facial myoclonus without EEG correlate that persisted in slow-wave sleep and (b) stimulus-sensitive massive jerks associated with vertex positive EEG spikes on which sleep had the paradoxic effect of suppressing jerks while stimulating spikes. Systematic EEG and event-related potential studies, including backward averaging from jerks and detailed anatomic studies of postmortem specimens with modern histochemical techniques, may help illuminate these intriguing differences. New modalities are needed to treat the myoclonus of these diseases since it generally responds poorly to currently available pharmacologic agents.

Adolescent↗
PubMed1985

Peroxisomal defects in neonatal-onset and X-linked adrenoleukodystrophies.

Accumulation of very long chain fatty acids in X-linked and neonatal forms of adrenoleukodystrophy (ALD) appears to be a consequence of deficient peroxisomal oxidation of very long chain fatty acids. Peroxisomes were readily identified in liver biopsies taken from a patient having the X-linked disorder. However, in liver biopsies from a patient having neonatal-onset ALD, hepatocellular peroxisomes were greatly reduced in size and number, and sedimentable catalase was markedly diminished. The presence of increased concentrations of serum pipecolic acid and the bile acid intermediate, trihydroxycoprostanic acid, in the neonatal ALD patient are associated with a generalized diminution of peroxisomal activities that was not observed in the patient with X-linked ALD.

Adrenoleukodystrophy↗
PubMed1984

Deafness in Cockayne's syndrome: morphological, morphometric, and quantitative study of the auditory pathway.

The auditory pathway of a 17-year-old deaf patient with Cockayne's syndrome was examined histologically. The cochlea showed marked atrophy of the spiral ganglion and attenuation of the cochlear division of the eighth cranial nerve. By means of the Computer Image Analyzer, the total number of neurons in the ventral cochlear nucleus was found to be reduced from 30,440 to 18,821. The mean diameter of the neurons in the ventral cochlear nucleus, medial dorsal olivary nucleus, and inferior colliculus was smaller than in a control patient, whereas in the medial geniculate nucleus and anterior transverse gyrus of Heschl, the neuronal size approximated the norm. The changes in the first three auditory relay nuclei were considered to represent transsynaptic atrophy caused by degeneration of the spiral ganglion and, possibly, the cochlear neuroepithelium. This histological report verifies that deafness in Cockayne's syndrome is largely sensorineural and that degeneration of spiral ganglion in humans can lead to a chain of trans-synaptic degeneration in the ventral cochlear nucleus, medial dorsal olivary nucleus, and inferior colliculus.

Adolescent↗
PubMed1984

Smoldering encephalitis in children.

Five children presented with focal seizures and neurological deficits that progressed over a span of months to years. Three had temporal lobectomy to control seizures, one underwent temporal lobe biopsy, and the fifth, who suffered from immunodeficiency, had an occipital lobectomy to remove a mass. Two of the children expired. Neuropathological findings in all five children were consistent with a persistent active "viral" encephalitis. No infectious agent was identified. None of the children had the usual systemic signs of encephalitis and all lacked an inflammatory response in their cerebrospinal fluid. We conjecture that this condition may be more frequent than realized. Besides causing intractable focal seizures and hemiparesis, it may account for other poorly understood syndromes of childhood with deteriorating behavior.

Brain↗