Mochizuki Y, Suyehiro Y, Ihara Y, Tomimoto K, Saito A, Ito T
Brain Dev. 1981;3(4):407-9. doi: 10.1016/s0387-7604(81)80070-8.
Two cases of brothers with congenital hydrocephalus and clasped thumbs are reported. In consideration of the rare incidence of sporadic congenital hydrocephalus, hereditary origin of these cases based on X-linked recessive inheritance was suspected. Serial sectioning of the brain stem revealed stenosis and abnormal dorso-ventral elongation of the aqueduct. These findings support the postulation of Landrieu et al that the primary defect in X-linked hereditary hydrocephalus is a communicating hydrocephalus leading usually to aqueductal stenosis in consequence of lateral compression of the brain stem.
报告了两例患有先天性脑积水和拇指内收的兄弟病例。鉴于散发性先天性脑积水的发病率很低,怀疑这些病例基于X连锁隐性遗传的遗传起源。对脑干进行连续切片显示导水管狭窄和异常的背腹伸长。这些发现支持了Landrieu等人的假设,即X连锁遗传性脑积水的主要缺陷是交通性脑积水,通常由于脑干的侧向压迫导致导水管狭窄。