Biomedical subjects

M Vidailhet

Publications and source records attributed to M Vidailhet.

At least 217 records · Page 12Linked to original sources

PubMed1980

[Agenesis of the sternocleidomastoid].

Explore the source record for details and available documents.

Humans↗

PubMed1980

[Neonatal hyperparathyroidism secondary to maternal hypoparathyroidism (author's transl)].

Three cases of neonatal hyperparathyroidism are reported: 2 children born to a mother with idiopathic hypoparathyroidism and a boy born to a mother with pseudohypoparathyroidism. Severe demineralization, decreased plasma calcium levels and very low phosphorus levels were seen in all three cases. The PTH level was high in the two cases in which is was measured. In the second of these, the lack of vitamin D administration since birth led to very severe rickets lesions at the age of 7 weeks. This is an argument for the role of hyperparathyroidism-induced vitamin depletion in the lesions observed and in the maintenance of secondary hyperparathyroidism. Analysis of 10 previously reported cases reveals the severity of the calcium deficiency induced in the fetus in this manner, the frequency of prematurity, of dysmaturity. With calcium and vitamin treatment, biological and radiological findings become normal.

Adult↗

PubMed1979

Isoelectrofocusing of erythrocyte galactose 1 phospho uridyl transferase in a family with both galactosemia and Duarte variants.

A family with the presence of the genes for both galactosemia and the Duarte variant is described. Galactose 1 phospho uridyl transferase has been studied not only by electrophoresis on starch gel, but also by isoelectro-focusing on thin-layer acrylamide. Normal and variant transferases were resolved into three bands, the isoelectric point of which was between 5.40 and 5.10 for the normal subjects, and between 5.25 and 4.95 for subjects with the Duarte variant.

Adult↗

PubMed1979

[Recurrent and multiple pheochromocytoma (author's transl)].

One case of multiple pheochromocytoma with several unusual features is reported: 1 -- the multiple localizations which came on at ten years interval. 2 -- Association with renal artery stenosis. 3 -- Association with Von Hippel Lindau's disease. The authors comment on this case and those from the literature.

Adolescent↗

PubMed1978

Prenatal diagnosis of galactosemia.

We have monitored 3 pregnancies at risk for galactosemia by deficiency in Galactose-1-Phospho uridyl transferase. Galactosemia was diagnosed in the 1st case; heterozygoty in the 2nd, and a "double heterozygoty" in the 3rd. The latter is the first example of such a diagnosis. Post natal confirmation was obtained in the three cases. Arguments are given for the usefulness of this prenatal diagnosis.

Amniocentesis↗

PubMed1976

[Multiple systemic atrophies, mental retardation, neurogenic amyotrophy and congenital bone fragility. A new neuro-generative disorder].

Five cases of a congenital neurological disorder are reported. Four patients, born after a breech delivery, belong to one sibship while the fifth patient is the only child in another family. The clinical features include quadriplegia, amyotrophy, a peripheral neuropathy, severe mental retardation and a subluxation of the hips. X-rays reveal diffuse osteoporosis and multiple spontaneous fractures. Autopsies in 3 patients showed multiple system atrophies involving the spinal cord and the cerebellum, coarse cerebral gyri and a marked reduction in volume of the white matter. These various pathological features are compared with the lesions found in a few other cases reported in the literature, none of which can be considered to be identical to the ones described. It is therefore felt that the condition under discussion represents a new syndrome to be classified, at least temporarily, within the group of multiple system atrophies.

Atrophy↗

PubMed1976