[Tuberous sclerosis presenting early in life as a polycystic kidney disease (author's transl)].
We report a girl with tuberous sclerosis. Diagnostic criteria when she was 6 years included mental retardation, seizures and characteristic skin lesions. Disease was revealed in the first 4 months of life by marked abdominal distension due to polycystic kidney disease. This case is strikingly similar to those recently published in the pediatric literature. The similarity is further increased by histological data concerning changes in the epithelium of the cyst, that seem to be specific; the early recognition of these changes should lead to a diagnosis of tuberous sclerous sclerosis in the first months of life.
D002648:Child; D005260:Female; D006801:Humans; D007668:Kidney / Q000473:pathology; D007690:Polycystic Kidney Diseases / Q000209:etiology*; D014402:Tuberous Sclerosis / Q000150:complications* / Q000473:pathology
Maladie polykystique rénale à révélation précoce. Première manifestation d'une sclérose tubéreuse de Bourneville.