[Gaucher's disease combined with congenital developmental defects of the urinary system]

Two cases of Gaucher's disease of the juvenile type are described, in a boy of 1 year and 7 months and in a girl of 8 years. The juvenile type of Gaucher's disease is documented by detection in the internal organs of typical Gaucher's cells formed mainly of histiocytes and macrophages, PAS-positive and weakly positive with Sudan III, and by the absence of the brain gangliocytes impairments. The peculiarity of these cases consists in the combination of glucocerebroside with congenital developmental defects of the urinary system: in one case with bilateral megaureter and hydronephrosis and in the second one with developmental defect of the renal arteries and bilateral cystic renal dysplasia.