Generalized Gangliosidosis

Introduction IN 1959 Norman et al1described a patient with a specific form of amaurotic idiocy which they called "Tay-Sachs Disease With Visceral Involvement." In this patient the clinical and pathological picture resembled Tay-Sachs disease, plus accumulation of lipid-laden histiocytes in liver, spleen, thymus, and other organs. Their patient's case differed chemically from Niemann-Pick disease, in which there is also combined neural and visceral involvement, in that the stored material in the brain was a ganglioside. In Niemann-Pick disease the characteristic lipid, which accumulates to a moderate degree in the brain and to a marked degree in the viscera, is sphingomyelin. Their patient's case also differed from classical Tay-Sachs disease since visceral involvement is absent in this disease. Also in 1959, Craig et al2described an infant with "foam-cell" histiocytosis of the viscera, involvement of renal glomerular epithelium, and clinical and radiological features suggestive of Hurler's disease. Since