Ozand P T, Thompson J N, Gascon G G, Sarvepalli S B, Rahbeeni Z, Nester M J, Brismar J
Department of Pediatrics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
J Child Neurol. 1994 Oct;9(4):408-11. doi: 10.1177/088307389400900415.
A 7-year-old girl presented with a language disorder reminiscent of verbal auditory agnosia. Later, she proved to have defective N-acetylglucosamine-6-sulfate sulfatase, the enzyme deficient in Sanfilippo D syndrome. She did not show clinical features of mucopolysaccharidosis. The language disorder had a fluctuating course, which eventually evolved into a progressive dementing encephalopathy.
一名7岁女孩出现了一种类似于言语听觉失认症的语言障碍。后来，她被证实缺乏N-乙酰葡糖胺-6-硫酸硫酸酯酶，这种酶在桑菲利波D综合征中是缺乏的。她没有表现出黏多糖贮积症的临床特征。这种语言障碍病程波动，最终发展为进行性痴呆性脑病。
