Shuper A, Bryan R N, Singer H S
Department of Neurology, Johns Hopkins Hospital, Baltimore, Maryland 21205.
Pediatr Neurol. 1990 Mar-Apr;6(2):137-40. doi: 10.1016/0887-8994(90)90049-7.
A 3-day-old infant with incontinentia pigmenti presented with acute encephalopathy associated with neuroradiographic findings of hemorrhagic necrosis and brain edema. No specific infectious, inflammatory, vascular, or metabolic abnormality was identified. We speculate that there is a variably expressed mutant protein in incontinentia pigmenti that could cause either developmental brain malformations or a destructive process.
一名患有色素失禁症的3日龄婴儿出现急性脑病，伴有出血性坏死和脑水肿的神经影像学表现。未发现特定的感染、炎症、血管或代谢异常。我们推测，色素失禁症中存在一种表达可变的突变蛋白，它可能导致发育性脑畸形或破坏性过程。
