大脑导水管综合征与神经纤维瘤病

Br J Ophthalmol. 1980 Apr;64(4):272-5. doi: 10.1136/bjo.64.4.272.

A 23-year-old man initially presented with the Sylvian aqueduct syndrome and subsequently developed cutaneous neurofibromata. The case is reported and the possibility that these represent manifestations of the same genetic abnormality is discussed.

一名23岁男性最初表现为中脑导水管综合征，随后出现皮肤神经纤维瘤。本文报告了该病例，并讨论了这些表现可能由相同基因异常引起的可能性。