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Biomedical subjects

O Robain

Publications and source records attributed to O Robain.

At least 55 records · Page 3Linked to original sources
PubMed1990

Kearns-sayre syndrome. Two clinico-pathological cases.

Two clinico-pathological cases of Kearns-Sayre syndrome are reported. In both cases the typical triad (progressive external ophthalmoplegia, heart block, retinitis pigmentosa) was present and spongiosis was the main pathological finding. In one case there was also a marked capillary proliferation, significance of which is discussed. A deletion of the mitochondrial DNA was found in the muscle, spinal cord and brain of this last case.

Adolescent↗
PubMed1990

[Joubert's syndrome].

We report a new case of pathologically documented Joubert syndrome. A review of 35 published cases showed that this syndrome, first described by Joubert and Eisenring in 1969, is well individualized and exhibits consistent features, including attacks of tachypnea alternating with respiratory pauses, abnormal ocular movements, severe psychomotor retardation, and ataxia. Anatomic anomalies include vermian agenesis with cystic dilatation of the fourth ventricle. Inheritance of this condition is autosomal and recessive. Onset is in the neonatal period and prognosis is severe. Significant anatomic resemblances with the Dandy-Walker syndrome exist, although genetic and clinical features are different. The origin of this syndrome is unknown, but a study of peroxisomes is required since three cases of Joubert syndrome with pipecolic acidemia have been reported and resemblances exist between some recognized peroxisomal diseases and Joubert syndrome.

Cerebral Ventricles↗
PubMed1990

[Delayed measles encephalitis in a leukemic child].

A case of measles encephalitis of the delayed type in a 5 year-old girl is reported. The encephalitis occurred 6 months after a measles which supervened just after the 18th monthly reinduction treatment for acute lymphoblastic leukemia. The child died one month later. This measles inclusion body encephalitis (MIBE) was confirmed by the presence of intracellular inclusions in the brain cells visualized by electron microscopy. The evidence of viral related intracellular nucleocapsides was confirmed by in situ hybridization. These nucleocapsides were identical to those seen in subacute sclerosing panencephalitis.

Child, Preschool↗
PubMed1989

Distribution of GABAergic neurons in late fetal and early postnatal rat hippocampus.

The ontogenesis of GABAergic neurons in the rat hippocampus was studied using an anti-GABA serum. GABA immunoreactivity appeared at the 18th day of gestation. At this stage, GABA-immunoreactive (GABA-IR) cells are grouped in two layers, one located deeply in the intermediate zone near the ventricular zone, and the other found superficially in the marginal zone near the hippocampal fissure. During the late embryonic and early postnatal life, GABA-IR neurons progressively disappeared from these two layers. The transient appearance of an abundant network of GABAergic neurons might be due to transient expression of GABA in some neurons or to cellular death. Later on, from the third postnatal day, the GABA-IR neurons appeared throughout the whole hippocampus according to a dorsoventral and lateromedial gradient. The setting of neuronal bodies preceded that of GABA-IR puncta (supposed to be mainly synaptic boutons) around the neuronal cell bodies and along the dendritic shafts. The puncta are only visible from the sixth day onwards and their number increased rapidly during the first 3 postnatal weeks. Our results indicate that GABA may have a role in neurotransmission in the hippocampus from a very early stage of development.

Aging↗
PubMed1989

Selective destruction of mossy fibers and granule cells with preservation of the GABAergic network in the inferior region of the rat hippocampus after colchicine treatment.

Lesions induced by colchicine injection into the rat hippocampus were investigated by means of electron microscopy and GABA immunocytochemistry. Granule cells were nearly completely destroyed 3 days after colchicine injection; since the necrosis of their axonal endings was delayed, an anterograde degeneration of the mossy fibers had probably taken place. The selectivity of the lesions was not limited to granule cells, for some pyramidal neurons in CA1 pyramidal layer were damaged. It was, however, striking to observe that throughout the hippocampal structure GABAergic neurons were spared from the effects of colchicine. For instance, GABAergic neurons were found in the vicinity of the completely destroyed granule cell layer. GABAergic neurons and terminals were also present in the CA3 region where the GABA-containing terminals formed a dense network of synapses with somata and dendrites of pyramidal cells. It was interesting to note that, consistent with previous studies, the GABAergic neurons in CA3 are innervated by mossy fibers. We conclude that after colchicine treatment the destruction of the granule cells was not associated with a lesion of the GABAergic network. This selective lesion provides a useful model with which to study the properties of CA3 neurons deprived of their major excitatory input but with an intact inhibitory network.

Animals↗
PubMed1989

Hippocampal plasticity in childhood epilepsy.

Quantitative autoradiography was used to study changes in high affinity (Kd = 12 nM) binding sites for kainic acid, a marker of mossy fibers, in the hippocampus of childhood epileptics. We found a highly significant increase in the density of kainate binding sites in the CA3 region and in the fascia dentata in childhood epileptics as compared to age matched controls. We suggest that anatomical plasticity occurs in the hippocampus of human epileptics as in experimental models of epilepsy. The increase in kainate binding sites may contribute to the development of epileptic seizures.

Adolescent↗
PubMed1989

Electron microscopic and Golgi study in a case of hemimegalencephaly.

Pathological findings in a case of hemimegalencephaly are presented. Hemispherectomy, performed because of intractable seizures, allowed an electron microscopic and Golgi study. Glial abnormalities consisted of hyperplasia of glia cells with giant astrocytes often containing several nuclei and proliferation of numerous Rosenthal fibers. Golgi stain showed many giant neurons with a perikaryon covered by perisomatic processes, and a complex dendritic tree. Glial abnormalities could be correlated with the firmness of the hemisphere and intense hypersignal on magnetic resonance imaging. Giant neurons were associated with an increase in size of the perikaryon and dendritic tree; this pattern suggests a polyploidy.

Brain↗
PubMed1989

Encephalopathy with calcifications of the basal ganglia in children. A reappraisal of Fahr's syndrome with respect to 14 new cases.

Calcifications of the basal ganglia are described under the heading of "Fahr's syndrome". The clinical pattern is variable and the syndrome may be sporadic or familial. This study describes a personal series of 14 cases of encephalopathy with calcification of the basal ganglia and reviews the literature cases. A four-group classification is proposed. The first group includes encephalopathy, microcephaly, dwarfism, retinal degeneration or optic atrophy, symmetrical patchy demyelination with calcifications and probable autosomal recessive inheritance. Some cases have an early onset, a rapid evolution. Others have a later onset, longer course and retinal degeneration. In the second group, the children suffer from a congenital encephalopathy or a cerebral palsy without clear deterioration, without short stature, ocular impairment or persistent CSF abnormalities. This group has not been reported in the literature. The cases do not seem to be genetic. The precise cause in unknown but a sporadic non progressive anoxo-ischemic, or viral prenatal disease is suggested. In the third group, the association of encephalopathy, microcephaly, and persistent CSF lymphocytosis, has a high recurrence rate. The pathogenesis is still a matter of dispute. The fourth group is characterized by autosomal dominant calcifications of the basal ganglia with or without neurological abnormalities. Finally calcium metabolism disorders and mitochondrial encephalomyopathy may be associated with calcifications of the basal ganglia.

Basal Ganglia Diseases↗
PubMed1989

Familial occurrence of prenatal encephaloclastic damage: anatomoclinical report of 2 cases.

Two brothers had a congenital cerebral malformation suggestive of a destructive process of the parenchyma; the first was hydranencephalic with extensive heterotopias. The second had focal microgyria and subcortical heterotopias. The precise origin of this disorder, which occurred two times in the same sibship, was not found; there is no reported genetic disease capable to cause such destructive brain lesion. The possibility of a persistent infectious disorder causing repetitive disturbance of gestation is discussed; it has not been proved. A fortuitous association cannot be excluded.

Brain↗
PubMed1989

[Bilateral thalamic hemorrhage following severe asphyxia in a 9-month-old infant].

We report a case of post-asphyxic bilateral thalamic hemorrhage in a 9 month-old infant, consecutive to a hemophilus hypopharyngitis. The neuropathologic study revealed that it was in fact a hemorrhagic necrosis associated to diffuse necrosis of the hemispheres. This case is compared to the other reported cases of thalamic hemorrhage and the physiopathologic mechanism is discussed.

Asphyxia↗
PubMed1989

[Giant axonal neuropathy: intermediate filament disease with involvement of the peripheral and central nervous system].

We report a case of giant axonal neuropathy in a 14 year-old turkish boy with progressive chronic neuropathy and central involvement with mental retardation. CT showed a low density and MRI imaging multiple cavities and hypersignals of the white matter. Nerve and skin biopsies revealed an accumulation of neurofilaments in axonal swellings and an accumulation of intermediate filaments in fibroblasts, Schwann cells, endothelial cells. These findings are in accordance with the reported cases. Giant axonal neuropathy results from a generalized disorder of the intermediate filaments, but the precise biochemical defect is unknown. We would agree with Maia (1988) to name this affection "Giant Axonal Disease".

Axons↗
PubMed1988

Agyria--pachygyria and Miller-Dieker syndrome: clinical, genetic and chromosome studies.

Twelve cases of lissencephaly are reported. A high resolution chromosome study was performed on each in order to detect small chromosomal anomalies, undetectable with routine techniques. Only one case was shown to have an unbalanced karyotype with a microdeletion of the short arm of chromosome 17 (del 17p). This child also had symptoms of the Miller-Dieker syndrome, consisting of lissencephaly, characteristic facies, pre- and post-natal growth retardation and other birth defects. As proposed by Dobyns, it seems justifiable to classify lissencephalies into four different groups, according to other clinical manifestations and results of chromosome studies.

Cerebral Cortex↗
PubMed1988

Detection of vesicular stomatitis virus (VSV) RNA in the central nervous system of infected mice by in situ hybridization.

Using in situ hybridization with a cloned DNA probe specific for the VSV G protein, viral RNA was detected and localized in CNS tissue of mice infected i.c. with either wild or ts G 31 VSV mutant. In both cases, brain and spinal cord neurons were the only cells seen to contain viral RNA. Virus-positive neurons were observed enclosed in spongious areas induced by the ts VSV mutant. These results suggest that the VSV shows a strong tropism for the neuronal cell and indicate that the vacuole formation might be associated with the expression of the VSV G protein gene in infected neurons.

Animals↗
PubMed1988

Peripheral neuropathy associated with erythrophagocytic lymphohistiocytosis.

A 12 year old patient who developed clinical, biochemical and histological features of erythrophagocytic lymphohistiocytosis is described. In contrast to previously reported cases, the prominent neurological feature was a subacute sensorimotor polyneuropathy. Sural nerve biopsy showed a marked reduction of myelinated fibres and severe axonal lesions, absence of histiocyte infiltration and deposits of IgM along the epineurium. In addition to the hypertriglyceridaemia previously described in this condition, an elevation of plasma very long-chain fatty acids and phytanic acid was found which suggests a transient impairment of peroxisomal functions.

Biopsy↗
PubMed1987

Cerebellar hemispheric agenesis.

A case report is reported of bilateral cerebellar hemispheric agenesis which was associated with secondary degeneration of cerebellofugal and cerebellopetal tracts. Somatotopic correlations between the cerebellar and the medullary olive lesions were obvious: preserved dorsal accessory olives pattern correlated with the spared vermis and normal medial accessory olives with the spared flocculi. Cerebellopetal degeneration was more difficult to analyse. The relation of cerebellar agenesis with basal ganglia abnormalities and microcephaly is discussed.

Brain↗
PubMed1987

Gabaergic neurons of the hippocampus: development in homotopic grafts and in dissociated cell cultures.

The hippocampus taken from E18-E19 rat embryos was dissociated into a cell suspension and was either grafted into the hippocampus of adult rats or cultured. The growth of GABAergic neurons was examined using a GABA directed antiserum. The implanted tissue was capable of survival and growth without exhibiting a laminar organization. Most of the various morphological neuronal types could be observed, establishing different types of synapses; however, granule neurons were rarely encountered. A substantial proportion of GABA-positive neurons was detected within the graft with profuse labelling of the neuropil. In cultures issued from the same cell suspension, GABA-immunoreactive neurons were numerous and had different morphologies. Altogether these data suggest that GABA neurons express a high potential for growth and sprouting in vitro and in vivo.

Animals↗
PubMed1987

Hemimegalencephaly: MR imaging in five children.

Hemimegalencephaly is a rare brain malformation characterized by cerebral asymmetry and cortical dysplasia. Infants with the condition present with early seizures and severe encephalopathy. Five patients were studied with computed tomography and magnetic resonance (MR) imaging. MR imaging was the most efficient diagnostic method for this rare entity. It demonstrated brain hemispheric hypertrophy with lateral ventricle dilatation, abnormal gyral pattern, and a thick cortex on the enlarged side. The images correlate well with the known pathologic data.

Brain↗