A Case of Sanfilippo Syndrome Type C: Long Term Clinical Course and Treatment.

概要

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We reported a Japanese girl with the Sanfilippo syndrome type C. She was born to healthy parents married consanguineously. She began to deteriorate and became disoriented at the age of 6 year and 8 month. She also developed sleep problems and dysphagia. Physical examination revealed short stature, slightly coarse facial features, contracture of the PIP joints and hypertrophy of the tonsils. There was neither hepatomegaly nor corneal clouding. Laboratory examination demonstrated an increase in urinary excretion of glycosaminoglycan. Electrophoresis of the urinary glycosaminoglycans indicated that heparan sulfate was the predominant component. Enzymatic assay using her skin fibroblasts demonstrated a complete deficiency of acetyl-CoA: a-glucosaminide N-acetyltransferase activity. Low dose erythromycin alleviated hypertrophy of her tonsils, thereby improving dysphagia
一般社団法人日本小児神経学会の論文