[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.
D005677:G(M1) Ganglioside / Q000378:metabolism; D005733:Gangliosidoses / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D006580:Genetic Carrier Screening; D006801:Humans; D007223:Infant; D007527:Isoenzymes / Q000032:analysis; D008297:Male; D011296:Prenatal Diagnosis; D001616:beta-Galactosidase / Q000032:analysis
D007527:Isoenzymes; D005677:G(M1) Ganglioside; D001616:beta-Galactosidase
Gangliosidosis GM1 tipo I, enfermedad de Landing. Presentación de un caso y revisión de la literatura.