[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.

[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.