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Biomedical subjects

O Robain

Publications and source records attributed to O Robain.

At least 37 records · Page 2Linked to original sources
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↗
PubMed1986

Inverted neurons in agyria. A Golgi study of a case with abnormal chromosome 17.

An anatomoclinical observation of agyria is reported. The karyotype revealed a partial deletion of the short arm of chromosome 17. The etiology of agyria is reviewed in the light of this chromosomal abnormality. In addition we describe the peculiar pattern of neurons in the cortex: Golgi stain demonstrated many inverted pyramidal cells in the superficial part of the cortical layer. The mechanism of this abnormality is discussed.

Abnormalities, Multiple↗
PubMed1986

Role of VSV G antigen in the development of experimental spongiform encephalopathy in mice.

The ts G31 VSV mutant induced spongiform encephalopathy without any inflammatory response when injected i.c. into the mouse. In electron microscopy, no virions could be detected in spongiform lesions. In contrast, with the wild VSV strain inflammatory lesions were seen, which contained viral particles in great abundance. As previously shown in vitro, when using the ts G 31 mutant at the nonpermissive temperature, the G antigen can spread from membrane to membrane to distant sites, fusing a great number of cells even in the absence of virus multiplication. Therefore, we postulate that a comparable mechanism is responsible for extensive brain lesions originating probably from a relatively small number of G antigen-producing cells. Indeed, the spongious regions seen mainly in the grey matter contained vacuoles, whose walls were clearly stained by peroxidase-labelled immune serum to G antigen, without detectable virions or inflammatory lesions. The vacuoles probably represent altered and swollen dendritic cell membranes. The relationship between spongiosis development and antigen diffusion in the absence of significant virus replication is discussed.

Animals↗
PubMed1986

Focal perivascular alterations of white matter in herpes simplex encephalitis--a histological and immunocytochemical study.

Several cases of human herpes simplex encephalitis treated with Vidarabin have been investigated with the histological and immunocytochemical techniques. Cases with a subacute evolution revealed areas of focal perivascular myelin destruction in the white matter. The distribution of herpes simplex antigen did not show any preferential localization of the virus in perivascular oligoglial cells. In contrast, a spatial and temporal relationship has been found between the appearance of immunoglobulin-bearing cells around the vessels and that of areas of focal perivascular myelin damage. Therefore, it is postulated that the areas of focal destruction of myelin are not related to the cytotoxic effect of the virus but are rather dependent on the immune response of the host.

Adult↗
PubMed1986

Neonatal adrenoleukodystrophy.

Nine cases of neonatal adrenoleukodystrophy are described. All patients had abnormal facial features, moderate to severe hypotonia, hepatomegaly, and retinitis pigmentosa. The clinical course was rapidly progressive in six cases and more protracted in three others. Biological signs of adrenal insufficiency were present in five cases. CT scan showed a demyelinating process in four patients. Trilamellar inclusions were found in the liver of four cases and dark and complex lipidic inclusions in three other cases. In the three necropsied patients there was severe alteration of the white matter involving particularly the cerebellum in two cases. Gyral and cytoarchitectonic disturbances were absent in all three cases. Increased plasma levels of very long chain fatty acids (8/8), phytanic acid (7/8) and bile fluid trihydroxycoprostanic acid (2/4) confirmed the deficiency of multiple peroxisomal enzymes. Clinical, histopathological and biochemical findings of these nine cases are compared to those reported in other neonatal adrenoleukodystrophy cases and to those of other neonatal peroxisomal disorders, that is cerebro-hepato-renal syndrome of Zellweger and infantile Refsum's disease.

Adrenal Cortex↗
PubMed1985

Detection of measles virus RNA in lymphocytes from peripheral-blood and brain perivascular infiltrates of patients with subacute sclerosing panencephalitis.

To clarify the relation between lymphocytes and measles virus in subacute sclerosing panencephalitis, we used in situ hybridization and a cloned measles virus DNA probe, specific for nucleocapsid protein, to detect measles virus RNA sequences in circulating lymphocytes and brain perivascular cuffs of patients with subacute sclerosing panencephalitis. Seventy to 90 per cent of peripheral mononuclear cells from three such patients were found to contain measles virus RNA sequences. In contrast, only a few infected cells were observed in four seropositive adults (0.1 to 5 per cent) and three age-matched children (10 to 15 per cent) used as controls. In one sample of brain tissue from a patient with subacute sclerosing panencephalitis, viral RNA sequences were also detected in nerve cells and in numerous cells from the perivascular infiltrates. In contrast, no hybridization was observed in brain tissue from a patient with herpetic encephalitis and from a patient with postlymphoma encephalitis. We conclude that measles virus has a strong tropism for lymphocytes and nerve cells in subacute sclerosing panencephalitis and that lymphocytes may be involved in the pathogenesis of the disease.

Adult↗