ABSTRACT
Hypomelanosis of Ito is a rare neuroectodermal syndrome characterized by specific cutaneous lesions and frequent musculoskeletal or visceral involvement. We report on a child with an original nephritis with major segmental abnormalities of the glomerular basement membrane. Such an association might not be fortuitous and glomerular involvement might be underestimated in hypomelanosis of Ito.
Subject(s)
Kidney Glomerulus/abnormalities , Nephritis/complications , Skin Diseases/complications , Basement Membrane/abnormalities , Basement Membrane/ultrastructure , Child, Preschool , Humans , Male , Microscopy, Electron , SyndromeABSTRACT
A case of familial cholestasis with cirrhosis is described in a 8 months old boy, presenting with hepatosplenomegaly, portal hypertension, dramatic pruritus, and fluctuating icterus of early post-natal onset. Biological data include positive hepatocyte retention test, with mild hepatocyte cytolysis, without patent hepatocyte insufficiency. The discrepancy between the clinical symptoms and a slight elevation of bilirubin partially conjugated, the absence of elevated blood cholesterol, the absence of evidence of antigen or antibody of virus A or B, the marked elevation of blood biliary acid lead to the suspicion of Byler disease. A liver biopsy with ultrastructural study shows a thickening of the ectoplasm, and the presence of microfilament material in the lumen of partially broken villi. Comparisons are made with the 4 other cases of Byler disease with E.M. study documented in the literature.
