[GM1 gangliosidosis, type I, Landing's disease. Presentation of a case and review of the literature].

A case of type 1 GM1 gangliosidosis, also called Norman-Landing disease is reported. The patient' was a nine months old boy who presented psychomotor retardation since birth, coarse facies, hepatomegaly and macular cherry red spot. Roentgenographic findings were those of dysostosis multiplex. Bone marrow smear showed type 1 Gasser's cells, as it occurs in the storage diseases. The infant presented a severe B-galactosidase deficiency and died at the age of ten months. Recent advances in pathogenesis, diagnosis and future therapy are discussed.