Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019209 (hepatomegaly)
 5,798 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

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.
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PMID:[GM1 gangliosidosis, type I, Landing's disease. Presentation of a case and review of the literature]. 642 22