1. [Case of Sanfilippo syndrome type B and Wilson disease born to unrelated parents].
- Author
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Takaura N, Tanaka A, Yoshida T, Takeshita Y, Shimizu N, Aoki T, Tamai H, and Yamano T
- Subjects
- Acetylglucosaminidase genetics, Adenosine Triphosphatases genetics, Cation Transport Proteins genetics, Child, Preschool, Chromosomes, Human, Pair 13 genetics, Chromosomes, Human, Pair 17 genetics, Consanguinity, Copper-Transporting ATPases, Genes, Recessive, Hepatolenticular Degeneration diagnosis, Heterozygote, Humans, Intellectual Disability etiology, Liver Diseases etiology, Male, Mucopolysaccharidosis III diagnosis, Hepatolenticular Degeneration complications, Hepatolenticular Degeneration genetics, Mucopolysaccharidosis III complications, Mucopolysaccharidosis III genetics
- Abstract
A 5-year-old boy visited a hospital because of macrocephalus, mental retardation and hepatic dysfunction, and was suspected to have Wilson's disease since his father had this disease. The serum level of ceruloplasmin was low, but urinary copper excretion was not increased markedly. He was treated with D-penicillamine. He was then reffered to our hospital because of his facial features suggesting mucopolysaccharidosis. Based on mucopolysacchariduria and the deficiency of N-acetylglucosaminidase, the diagnosis of Sanfilippo syndrome type B was made. Molecular analyses identified him as a compound heterozygote for both the ATP7B (A844V/2659delG) and alpha-N-acetylglucosaminidase (V241M/R482W) genes, responsible for Wilson's disease and Sanfilippo syndrome type B, respectively. Although born to non-consanguineous parents, he had two rare autosomal recessive diseases. In this case, liver dysfunction was attributed to Wilson's disease, and mental retardation to Sanfilippo syndrome.
- Published
- 2006