Sandhoff's disease (type II GM2 gangliosidosis). Clinical, biochemical and ultrastructural study of a case.
A case of GM2 gangliosidosis is reported: the diagnosis has been made by clinical findings showing macular cherry-red spot and a progressive neurologic symptomatology with epilepsy, by electron microscopic observation in conjunctival fibroblasts of numerous vacuoles ("zebra bodies") and by absence of total hexosaminidase activity in leukocytes. An abnormal increase of urinary oligosaccharides has also been found.
Pallini
R
R
Instituto di Clinica Oculistica, II Facoltà di Medicina e Chirurgia, Universita Degli Studi Di Napoli, Italy.
Berardi
R
R
Cioni
M
M
d'Ettorre
M
M
De Crecchio
G
G
Gerli
R
R
Minervino
M
M
Sammartino
A
A
Federico
A
A
D003228:Conjunctiva / Q000473:pathology; D005260:Female; D005347:Fibroblasts / Q000648:ultrastructure; D006801:Humans; D007223:Infant; D007962:Leukocytes / Q000201:enzymology; D008247:Lysosomes / Q000201:enzymology; D009844:Oligosaccharides / Q000652:urine; D010375:Pedigree; D012497:Sandhoff Disease / Q000235:genetics / Q000378:metabolism* / Q000473:pathology; D001619:beta-N-Acetylhexosaminidases / Q000378:metabolism
D009844:Oligosaccharides; D001619:beta-N-Acetylhexosaminidases