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Biomedical subjects

L Polliot

Publications and source records attributed to L Polliot.

At least 19 recordsLinked to original sources
PubMed1980

[Ocular findings in a peculiar type of mucolipidosis called nephrosialidosis].

Clinical, histological and ultrastructural findings are described in a male infant presenting a peculiar type of mucolipidosis called nephrosialidosis. This disease is characterized by a sialidase deficiency and a severe glomerular nephropathy. The ocular pathology provides the principal features of the disease showing both mucopolysaccharidic and glycolipidic storage.

Child, Preschool↗
PubMed1977

[Gorlin-Goltz phakomatosis (author's transl)].

Having had the occasion of observing a new case, the authors have started on a new description of a specific autosomal dominant inheritance disease, description which connects an eye trouble with basal cell nevi, with jaw cysts as well as with malformations of the skeleton and nervous lesions, the tumoral lesions having the essential characteristic of possessing and evolutive potential. The authors explain the reasons which have led them to give to this specific disease the name of Gorlin-Goltz phacomatosis.

Abnormalities, Multiple↗
PubMed1976

[Electroretinography in nephronophthisis. Role of the Senior-Loken syndrome].

The authors report 20 cases of a syndrome named nephronophtisis and probably the same as the syndrome of medullar cystic disease. In all cases systematic electroretinography is performed. Nine cases show important deterioration of the outline. These cases can be included in the syndrome of Senior-Loken. The pathogenesis and familial character of this disease are discussed. The disturbances that appeared between the ocular and renal lesions suggest that there are probably two genes rather than a single pleiotropic gene.

Adolescent↗