Panteliadis Christos P, Karatza Eliza D, Tzitiridou Maria K, Koliouskas Dimitrios E, Spiroglou Kleomenis S
Department of Pediatrics, 3rd Pediatric Clinic, Aristotle University of Thessaloniki Medical School, Hippokration Hospital, Thessaloniki, Greece.
Pediatr Neurol. 2003 Jul;29(1):59-62. doi: 10.1016/s0887-8994(03)00041-9.
Hurler disease or syndrome is a disorder of mucopolysaccharide metabolism, inherited as an autosomal recessive trait. We describe a case of a 15-month-old female exhibiting with clinical and laboratory characteristics of the syndrome, central nervous system lesions (lissencephaly, excessive ventricular enlargement and Dandy Walker malformation with vermis atrophy, cerebellar cyst) and mongolian spots in the trunk and extremities. The combination of mongolian spots and severe central nervous system lesions in Hurler syndrome is considered a rare clinical occurrence, while the association with lissencephaly has never been reported.
黏多糖贮积症Ⅰ型（Hurler病或综合征）是一种黏多糖代谢紊乱疾病，呈常染色体隐性遗传。我们描述了一例15个月大的女性患者，其表现出该综合征的临床和实验室特征、中枢神经系统病变（无脑回畸形、脑室过度扩大、伴有蚓部萎缩和小脑囊肿的Dandy-Walker畸形）以及躯干和四肢的蒙古斑。黏多糖贮积症Ⅰ型综合征中蒙古斑与严重中枢神经系统病变的组合被认为是一种罕见的临床情况，而与无脑回畸形的关联尚未见报道。
