Gottschalk M E, Coker S B, Fox L A
Department of Pediatrics, Loyola University Medical Center, Maywood, Illinois 60153, USA.
Am J Med Genet. 1996 Nov 11;65(4):274-6. doi: 10.1002/(SICI)1096-8628(19961111)65:4<274::AID-AJMG5>3.0.CO;2-P.
We report on an 18-year-old man with neurosensory hearing loss and his sister with neurosensory hearing loss, ovarian dysgenesis, mental retardation, generalized ataxia of the trunk and limbs, and saccadic dysmetria. A CT scan showed cerebellar hypoplasia. The cardinal manifestations of Perrault syndrome in females are neurosensory hearing loss and ovarian dysgenesis. Other anomalies, including neurologic and skeletal, have been reported in other individuals with Perrault syndrome. We review the neurologic anomalies in previous patients with Perrault syndrome. Neurologic data are available on 14 of 21 girls; 7 of 14 had neurologic abnormalities. The high incidence of neurologic anomalies suggest that ataxia or mental retardation may not be just coincidental findings, but pleiotropic manifestations of Perrault syndrome.
我们报告了一名患有神经性听力损失的18岁男性及其患有神经性听力损失、卵巢发育不全、智力发育迟缓、躯干和四肢广泛性共济失调以及眼球扫视运动失调的妹妹。CT扫描显示小脑发育不全。佩罗特综合征在女性中的主要表现为神经性听力损失和卵巢发育不全。在其他患有佩罗特综合征的个体中还报告了包括神经和骨骼方面的其他异常情况。我们回顾了先前佩罗特综合征患者的神经异常情况。21名女孩中有14名有神经学数据；14名中的7名有神经异常。神经异常的高发生率表明共济失调或智力发育迟缓可能并非偶然发现，而是佩罗特综合征的多效性表现。
