一例伴有己糖胺酶A缺乏和热不稳定己糖胺酶B的GM2神经节苷脂贮积症患者的皮肤活检超微结构病理学及成纤维细胞酶研究
Ultrastructural pathology of skin biopsy and fibroblast enzyme studies in a case of GM2-gangliosidosis with deficient hexosaminidase A and thermolabile hexosaminidase B.
作者信息
Burck U, Harzer K, Goebel H H, Elze K L, Held K R, Carstens L
出版信息
Neuropadiatrie. 1980 May;11(2):161-75. doi: 10.1055/s-2008-1071386.
PMID:6255371
Abstract
A 2 year-old non-Jewish boy had muscle hypertonia, a black cherry spot, dementia, and seizures. His skin biopsy showed membranous cytoplasmic bodies in axonal terminals and zebra body-like inclusions in Schwann cells. Biochemically, a deficiency of Hex A and two separate Hex B peaks indicated a type 1 (B variant, Tay Sachs) like subvariant of GM2-gangliosidosis.
摘要
一名2岁非犹太裔男孩出现肌张力亢进、黑樱桃斑、痴呆和癫痫发作。他的皮肤活检显示轴突终末有膜性细胞质体，施万细胞中有斑马体样包涵体。生化检查显示，己糖胺酶A缺乏以及两个独立的己糖胺酶B峰表明这是一种1型（B变异型，泰-萨克斯病）样的GM2神经节苷脂贮积症亚型。
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