一种伴有精神运动发育迟缓、角膜混浊和视网膜变性的新型黏脂贮积症。

Newell F W, Matalon R, Meyer S

Trans Am Ophthalmol Soc. 1975;73:172-86.

A man now 22 years of age had slow psychomotor development about 6 months after birth and developed intermittent corneal clouding at about 18 months. He developed truncal ataxia, hypotonia of the limbs combined with spasticity, and active deep reflexes. These have not progressed. His skeleton and facies are normal. Between his first and thriteenth year he developed sev ere optic atrophy, absence of retinal blood vessels, and an extinguished electroretinogram. Biochemical analysis of cultured fibroblasts indicated no lysosomal hydrolase deficiency; cellular metachromasia was absent and there was no mucopolysaccharidoses. Ultrastructural studies indicated single membrane vacuoles containing lamellated membranes and a polymorphous substance in tissue cultured cells and conjunctiva.

一名现年22岁的男性在出生后约6个月时出现精神运动发育迟缓，18个月左右出现间歇性角膜混浊。他出现了躯干共济失调、四肢肌张力减退合并痉挛以及活跃的深反射。这些症状未再进展。他的骨骼和面容正常。在1岁至13岁期间，他出现了严重的视神经萎缩、视网膜血管缺失以及视网膜电图熄灭。对培养的成纤维细胞进行生化分析表明不存在溶酶体水解酶缺乏；细胞异染性缺失，也没有黏多糖贮积症。超微结构研究表明，在组织培养细胞和结膜中存在含有层状膜和多形物质的单膜空泡。