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HK J Paediatr (New Series)
Vol 11. No. 4,
2006
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HK J Paediatr (New Series) 2006;11:337-340
Case Report
Diagnostic Difficulties in Sanfilippo Disease
DKH Chan, CW Lam, STS Lam Clinical Genetic Service, Department of Health, Hong Kong, China DKH Chan ( 陳錦雄 ) MBChB(CUHK), MRCP(UK)
STS Lam ( 林德深 ) FHKAM(Paed), FRCP Department of Chemical Pathology, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, N.T., Hong Kong, China CW Lam ( 林青雲 ) FHKAM(Pathology) Correspondence to: Dr STS Lam Received July 11, 2006
Abstract We reported on a 21 months old girl, diagnosed as Sanfilippo disease, MPSIIIB. Her mother was at 21 weeks of pregnancy when she first presented to us. The diagnostic pitfalls in the clinical, biochemical and genetic aspects were highlighted. The limited time frame for urgent molecular diagnosis, prenatal diagnostic tests and counselling issues were discussed. Keyword : Alpha-N-acetylglucosaminidase; Diagnostic pitfalls; MPSIIIB; Sanfilippo disease type B
Abstract in Chinese
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