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The sibilings of Sanfilippo B syndrome (MPS III B) were reported.<BR>The parents were the first cousins. The subjects were an 18-year-old girl (Case 1) and 15-year old-boy (Case 2) and their another sibling also had similar clinical signs and symptoms (propressive neurological disorders and dysostosis multiplex). Their early de elopments were only slightly retarded. Between 4 and 8 years of age, they developed gait disturbance, tremor, trunkal ataxia and seizures, and finally they became bedridden. They showed mucopolysacchariduria (mostly composed of heparan sulfate) and slight dysostosis multiplex, but organomegalies were absent.<BR>The activity of N-acetyl-α-D-glucosaminidase was absent in leucocytes and cultured fibroblasts in Case 1, and markedly reduced in leucocytes in Case 2, but other lysosomal acid hydrolase activities were almost all within normal range. Peculiar coasely vacuolated cells were found in the bone marrow.<BR>By electron microscopic investigation of a skin biopsy specimen, many membrane-limited vacuoles and a few inclusion bodies resembling membranous cytoplasmic bodies were demonstated in fibroblasts, lymphocytes andendothelial cells. In a few cells, many membrane-limited bodies filled with electron dense filamentous materials were also observed.<BR>Urinary excretion of sialyl oligosaccharides was 2.5 fold higher than that in normal control. But the activity of acid neuraminidase (sialidase) of cultured fibroblasts was within a normal range in Case 1. The sialic aciduria of this patient was thought to be due to the secondary disturbance of the metabolism in sialic acid.
- 一般社団法人 日本小児神経学会の論文
一般社団法人 日本小児神経学会 | 論文
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