Tylki-Szymańska A, Czartoryska B, Górska D, Piesiewicz-Grzonkowska E
Department of Metabolic Diseases, Children's Memorial Health Institute, Warsaw, Poland.
Acta Paediatr Jpn. 1998 Oct;40(5):492-4. doi: 10.1111/j.1442-200x.1998.tb01977.x.
A case of a rare form of Sanfilippo disease, mucopolysaccharidosis type III D is presented. The cause of the disease is a deficit of N-acetylglycosamine-6-sulfate sulfatase. Differences in clinical course and symptoms with type A and B Sanfilippo disease are shown (later presentation of symptoms, milder course, lack of distinct psychomotor regression and differences in characteristic phenotypic traits, such as facial features, joint contracture, tall height). It is suggested that type III D mucopolysaccharidosis be taken into account in the differentiation of mental retardation syndromes with hyperactivity.
本文报告了一例罕见的桑菲利普病（黏多糖贮积症III型D）病例。该病的病因是N - 乙酰氨基葡萄糖 - 6 - 硫酸酯硫酸酯酶缺乏。文中展示了其与A型和B型桑菲利普病在临床病程和症状上的差异（症状出现较晚、病程较轻、缺乏明显的精神运动发育倒退以及特征性表型特征如面部特征、关节挛缩、身材高大等方面的差异）。建议在伴有多动的智力发育迟缓综合征的鉴别诊断中考虑III型D黏多糖贮积症。
