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Biomedical subjects

D Toussaint

Publications and source records attributed to D Toussaint.

At least 91 records · Page 5Linked to original sources
PubMed1981

Adult form of basal cell naevus syndrome: a family study.

A 32-year-old patient had marked reduction of visual acuity due to falciform folds of the retina and retinal detachment, and severe neurological abnormality: bilateral pyramidal involvement, fasciculation in all limbs and gait ataxia. Skull radiographs showed internal frontal hyperostosis; CT scan showed calcification of the falx cerebri, and multiple arachnoid cysts were shown by myelography. A naevoid lesion had previously been removed from the left forearm. There was a history of ophthalmological symptoms in the mother and the daughter of the propositus. His son has "café au lait" spot on the abdomen and dentigerous cysts. The diagnosis of an adult form of basal cell naevus syndrome with an autosomal dominant mode of inheritance is discussed.

Adult↗
PubMed1981

[Congenital choledochal cyst. The value of systematic ultrasound screening starting in the second trimester of pregnancy (author's transl)].

Routine obstetrical ultrasound carried out in the 20th week of amenorrhoea made it possible to identify a septate abdominal cyst which was non-urinary in origin and situated in the right hypochondrium. It was difficult, armed with this information, to be sure from which organ the cyst derived. The secondary diagnosis of a congenital cyst of the bile duct was made at laparotomy carried out a few hours after birth.

Adult↗
PubMed1979

Ocular findings in metachromatic leukodystrophy. An electron microscopic and enzyme study in different clinical and genetic variants.

Histopathological studies of the eyes from three patients affected with the infantile form of metachromatic leukodystrophy (MLD) showed the storage of metachromatic complex lipids in the retinal ganglion cells, in the optic nerve and the ciliary nerves, as well as the storage of a mucopolysaccharide-like material in the nonpigmented epithelium of the ciliary body. The lesions were limited to the optic, ciliary, and sensory nerves in a fourth patient with the juvenile form of the disorder. These morphological aspects, which are probably related to differences in sulfatase A activities, may explain the variability of the ocular manifestations in metachromatic leukodystrophy. Seven children affected with infantile MLD or with mucosulfatidosis were examined by conjunctival biopsy. Typical lesions of the sensory nerves were obvious and allowed the diagnosis of the disease. However, it seemed impossible to separate the different forms by histopathological studies only. The tear enzymes were assayed in most of the cases and demonstrated a profound deficiency of arylsulfatase A, or of arylsulfatase A and B, in the classical MLD and in mucosulfatidosis, respectively.

Cerebroside-Sulfatase↗
PubMed1979

Charcot-Marie-Tooth disease associated with retinal pigment dystrophy and protanopia. Neurological, ophthalmological and genetic study of a family.

Neurological, ophthalmological and genetic investigations were performed on a family, a member of which presented with a rare association of tapeto-retinal degeneration, protanopia and Charcot-Marie-Tooth disease (CMT), and asked for genetic counseling. The neurological enquiry was completed by measurement of motor nerve conduction velocity in several completed by measurement of motor nerve conduction velocity in several members of the family. The propositus was submitted to a muscle biopsy. The ophthalmological examination included ophthalmoscopy, fluorescein angiography, electroretinogram and electrooculogram. The propositus, a woman aged 40, had typical CMT disease and her father also had a mild form of it. She had protanopia as had her father, her son and her nephew. In addition she had large macular pigmented changes, described as retinal dystrophy, "flavus flavimaculatus." Her mother had only senile pigmented modification of the fundus and her three daughters had mild macular pigmented changes, like "salt and pepper." Two genes are probably involved: one for protanopia with X linked recessive inheritance, the other responsible of CMT and tapeto-retinal degeneration, with an autosomal dominant inheritance, giving a 50% risk of recurrence.

Adolescent↗