[Case of Sanfilippo syndrome type B and Wilson disease born to unrelated parents].
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.
Takaura
Natsuko
N
Department of Pediatrics, Osaka City University Graduate School of Medicine, Osaka. tnatsu@msic.med.osaka-cu.ac.jp
Tanaka
Akemi
A
Yoshida
Toshiko
T
Takeshita
Yukiko
Y
Shimizu
Norikazu
N
Aoki
Tsugutoshi
T
Tamai
Hiroshi
H
Yamano
Tsunekazu
T
D000118:Acetylglucosaminidase / Q000235:genetics; D000251:Adenosine Triphosphatases / Q000235:genetics; D027682:Cation Transport Proteins / Q000235:genetics; D002675:Child, Preschool; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics; D003241:Consanguinity; D000073840:Copper-Transporting ATPases; D005808:Genes, Recessive; D006527:Hepatolenticular Degeneration / Q000150:complications* / Q000175:diagnosis / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008607:Intellectual Disability / Q000209:etiology; D008107:Liver Diseases / Q000209:etiology; D008297:Male; D009084:Mucopolysaccharidosis III / Q000150:complications* / Q000175:diagnosis / Q000235:genetics*
D027682:Cation Transport Proteins; D000118:Acetylglucosaminidase; D000251:Adenosine Triphosphatases; C000612464:ATP7B protein, human; D000073840:Copper-Transporting ATPases