Dejerine-Sottas syndrome (DSS) is the earlier onset, more severe form of Charcot-Marie-Tooth (CMT) disease with heterogenous neurologic manifestations in addition to the peripheral neuropathy depending not only on the underlying causative gene but also the specific mutation. The Trembler mutation is an uncommon missense mutation in the PMP22 gene, the most commonly mutated gene responsible for CMT. We report two cases of DSS in a mother and son with the Trembler mutation, with associated findings of hearing loss and cognitive impairment. The mother had developmental gait abnormalities and became wheelchair bound in adolescence. She displayed impairment on cognitive and audiologic testing. Her son had similar developmental gait abnormalities and became wheelchair bound at age 19. Cognitive function showed an earlier decline in the son as compared to his mother. This report extends the clinical spectrum of the Trembler mutation in humans to include associated hearing loss with cognitive impairment.

Dejerine-Sottas 综合征 (DSS) 是早发、更严重的 Charcot-Marie-Tooth (CMT) 病，除了周围神经病变外，还具有异质性神经系统表现，这不仅取决于潜在的致病基因，还取决于特定的突变。Trembler 突变是 PMP22 基因中一种罕见的错义突变，PMP22 基因是导致 CMT 的最常见突变基因。我们报告了一对患有 Trembler 突变的母子的两例 DSS，并伴有听力损失和认知障碍的相关发现。母亲有发育性步态异常，在青春期就只能坐轮椅了。她在认知和听力测试中表现出障碍。她的儿子也有类似的发育步态异常，并在 19 岁时开始坐轮椅。与母亲相比，儿子的认知功能下降较早。该报告扩展了人类 Trembler 突变的临床范围，以包括与认知障碍相关的听力损失。