[Gangliosidosis GM1--type 1. Anatomo-clinical study of a case].
The observation of generalized GM1 gangliosidosis type 1 (Norman-Landing disease) is reported. The case is typical, featuring all the main clinical and biological signs of the disease. Diagnosis was established by the demonstration of a severe deficit in beta-galactosidase activity in leucocytes, by the demonstration of oligosaccharides in the urine, and by the histological examination after the fatal outcome before the age of two with severe respiratory distress.
D002540:Cerebral Cortex / Q000473:pathology; D005677:G(M1) Ganglioside / Q000378:metabolism; D005733:Gangliosidoses / Q000378:metabolism / Q000473:pathology*; D006801:Humans; D007223:Infant; D008297:Male; D009410:Nerve Degeneration; D009844:Oligosaccharides / Q000652:urine
D009844:Oligosaccharides; D005677:G(M1) Ganglioside
Gangliosidose GM1--tipo 1. Estudo anátomo-clínoco de um caso.