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M Philippart

Publications and source records attributed to M Philippart.

90 records · Page 5Linked to original sources
PubMed1966

[Gargoylism].

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Humans↗
PubMed1966

Concentration and fatty acid composition of cerebrosides and sulfatides in mature and immature human brain.

The fatty acid composition of cerebrosides and sulfatides from frontal lobe gray and white matter was determined for five fresh and four formalinized adult brains and for eight infants. Fatty acid patterns were unaffected by formalinization, but varied considerably from one another in the proportion of saturated to unsaturated fatty acids. The percentages of 24:0 and 24:1 increased with age. Cerebrosides obtained from areas such as the brainstem and cerebellum, where myelination was more advanced, tended to have a larger proportion of long-chain fatty acids than samples extracted from frontal or parietal lobe white matter. Hydroxy fatty acids showed an adult pattern in all instances in which amounts sufficient for accurate quantification could be isolated. Lipid hexose, cerebroside + sulfatide hexose, and methanoleluted hexose were measured in the brains of 12 infants ranging in age from a 4 month fetus to 2 yr. In the most immature, the majority of lipid hexose was in the form of glycolipids more polar than cerebrosides and sulfatides. These have tentatively been identified as hematosides and globosides. With maturation, cerebrosides and sulfatides increased progressively, but the amounts of the more polar glycolipids remained constant in relation to the total lipid content of tissue.

Adult↗
PubMedDate not supplied

Handwringing in Rett syndrome: a normal developmental stage.

Handwringing, a characteristic clinical finding in Rett syndrome, appears typically after the loss of hand function. Available data suggest that original hand function never proceeds beyond elementary grasping. Handwringing and hand mouthing are normal developmental stages occurring at about 14 weeks of age in normal infants. The distressed behavior that characterizes the clinical onset of the disorder often turns attention away from the underlying severe apraxia. The confusion is further compounded by the fact that handwringing is also an elementary expression of stress in normal individuals.

Brain Stem↗
PubMedDate not supplied

Ocular features of multiple sulfatase deficiency and a new variant of metachromatic leukodystrophy.

Multiple sulfatase deficiency, a newly recognized autosomal recessive disorder caused by a deficiency of several sulfatase enzymes, is characterized by psychomotor retardation, ichthyosis, and mild organomegaly. Patients with metachromatic leukodystrophy, also an autosomal recessive disorder, have a deficiency of a single sulfatase enzyme, arysulfatase A. The ocular features of a patient with multiple sulfatase deficiency and a patient with a new biochemical variant of metachromatic leukodystrophy are described. The patient with multiple sulfatase deficiency had a unique, peripheral lens opacity and a panretinal degeneration. The patient with a new variant of metachromatic leukodystrophy exhibited a cherry-red spot.

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