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M T Vanier

Publications and source records attributed to M T Vanier.

At least 145 records · Page 8Linked to original sources
PubMed1978

[Infantile form of Gaucher's disease. Clinical and biological studies in 1 case. Prenatal diagnosis in 2 further normal pregnancies].

A clinical report of a typical case of infantile Gaucher's disease is given. Study of the beta-glucosidase activity in leukocytes and skin fibroblasts confirmed the diagnosis in the patient and established the heterozygote condition of the parents. Two later pregnancies have been monitored by enzymatic study of cultured amniotic fluid cells. Both foetuses were predicted to be healthy, which was confirmed after birth. The report includes a histopathological ultrastructural, chemical and enzymatic study of liver, spleen and brain obtained at autopsy. Possible clues to the physiopathological mechanism of the cerebral lesion are discussed.

Amniotic Fluid↗
PubMed1977

[Krabbe's disease].

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Clinical Enzyme Tests↗
PubMed1975

Polyunsaturated fatty acid lipidosis. II. Lipid biochemical studies.

Lipid analyses were performed on cerebral tissue from three children who had died of a progressive encephalopathy and from one living child in an early stage of the disease. In the terminal stage of the disease, the cortex and white matter content of all lipid classes, particularly the sphingolipids, were very low. The concentration of gangliosides of the cerebral cortex was 10%, and of cerebrosides in white matter, 2-3% of the normal values for the age. The porportion of the minor gangliosides with short carbohydrate chains was increased because the reduction affected mainly the four major brain gangliosides GM1, GD1a, GD1b and GT1. In the child from whom the biopsy specimen was obtained in an early phase of the disease the cerebral lipid pattern appeared to be normal. A patient who had died of neuronal ceroid-lipofuscinosis (Janský-Bielschowsky) did not show any major lipid changes. The fatty acid patterns of the phosphoglycerides showed such changes as have never been observed in any other disease. In the three advanced cases the fatty acid compositions in cerebral cortex and white matter were identical. In ethanolamine phosphoglycerides the proportions of 18: 1 and 20: 4 (n-6) were increased, while those of 22: 4 (n-6) and 22: 6 (n-3) were markedly diminished. Similar changes in the fatty acid patterns were found in the other phosphoglycerides. In the early phase of the disease 22: 4 (n-6) was decreased and 18: 1 increased. We propose that this new disease be termed polyunsaturated fatty acid lipidosis (PFAL).

Adolescent↗
PubMed1975

Chemical pathology of Krabbe's disease. III. Ceramide-hexosides and gangliosides of brain.

Neutral ceramide-hexosides and gangliosides in cerebral cortex and white matter of children who had died in Krabbe's disease were quantitatively isolated and characterized. The concentrations of galactosylceramides; lactosylceramides and glucosylceramides were normal or slightly increased in cerebral cortex, but all the three glycolipids were diminsihed in white matter, particularly the galactosylceramides. More complex ceramide-hexosides, globotriose, globotetraose and blood-group substance H, present in trace amounts in normal brain, were much more abundant in cerebral cortex and especially in white matter of brains affected by Krabbe's disease. The composition of the ceramide portion suggested that these glycolipids as well as a portion of the lactosylceramides and glucosylceramides were structural components of the globoid cell. The ganglioside distribution was severely altered. GD1a and GM1 were severely reduced in cerebral cortex and white matter, while GD1b and GT1 were slightly decreased in cerebral cortex, but increased in white matter. Normally minor brain gangliosides metabolically related to GD1b and GT1, i.e. GD2, GD3 and GM3, were strongly increased in cerebral cortex and in white matter. For the first time galactosylsphingosine (psychosine) was demonstrated in normal infant brain. In cerebral tissue affected by Krabbe's disease the concentration of psychosine was at least 10 times higher. The large increase in this cytotoxic substance might be the primary lesion in Krabbe's disease.

Brain↗
PubMed1975

Chemical pathology of krabbe's disease. IV. Studies of galactosylceramide and lactosylceramide BETA-galactosidases in brain, white blood cells and aminotic fluid cells.

Galactosylceramide beta-galactosidase and lactosylceramide beta-galactosidase activities were investigated in normal human brain, leu-kocytes and amniotic fluid cells. The enzymatic assays were performed on brains from 11 patients with Krabbe's disease, on leukocytes from 16 patients and 18 obligate heterozygotes, and on amniotic fluid cells from 9 foetuses at risk. The brain enzyme was solubilized from a 900 g-100000 g pellet. With this enzyme preparation a profound deficiency of galactosylceramide beta-galactosidase activity in brain, approximately 1% of that in age-matched controls was shown. The lactosylceramide beta-galactosidase activity of brain was also strongly reduced, but not to the same extent as the other beta-galactosidase. Galactosylceramide beta-galactosidase activity in leukocytes from patients with Krabbe's disease was generally less than 5% of that in age-matched controls and there was no overlap between the patients and the obligate heterozygotes. Carrier detection by the leukocyte enzyme was, however, not possible because of considerable overlap between heterozygotes and normal controls. The lactosylceramide beta-galactosidase activity was only moderately reduced in leukocytes, but strongly reduced in cerebral tissue from patients with Krabbe's disease. The changes in the glycolipid pattern of cerebral tissue, recently described by us in patients with Krabbe's disease, offers an explanation to the serious glycolipid beta-galactosidase deficiency in CNS.

Amniotic Fluid↗
PubMed1975

[Clinical, ultrastructural and biochemical study of a case of GM1 type 2 gangliosidosis].

Clinical, histological, ultrastructural and biochemical studies have been performed in a living 20-month-old infant with GM1-gangliosidosis type 2. Rectum, brain and liver biopsies were done. The histological and ultrastructural examination revealed the presence of cytoplasmic membranous bodies in the nervous system and a vacuolisation of the visceral parenchymatous cells, particularly histiocytes. The diagnosis was established by the finding of a generalized beta-galactosidase deficiency and an accumulation of GM1-ganglioside in brain. In leukocytes, the activity of p-nitrophenyl-beta-galactosidase was below 5%, and that of GM1-ganglioside beta-galactosidase below 1% of values obtained in controls. In cerebral tissue, GM1 ganglioside constituted 80% of total gangliosides; its concentration was 15 times that in age-matched controls. No accumulation of GM1 could be evidence in liver. Enzymatic examination of leukocytes obtained from the consanguineous parents revealed heterozygote values.

Brain↗