Lee Su Ji, Kim Tae Yong, Hong Seungbeen, Byun Justin, Cho Sung-Rae
Department and Research Institute of Rehabilitation Medicine, Yonsei University College of Medicine, Seoul, Korea.
Department of Physical Medicine and Rehabilitation, National Health Insurance Service Ilsan Hospital, Goyang, Korea.
Brain Neurorehabil. 2021 Jun 8;14(2):e20. doi: 10.12786/bn.2021.14.e20. eCollection 2021 Jul.
Pelizaeus-Merzbacher disease (PMD) is a X-linked recessive disorder with dysmyelination in central nervous system caused by proteolipid protein 1 () gene mutation. We report a case of PMD with exon 1 duplication, previously misdiagnosed as cerebral palsy (CP). A 25-year-old male previously diagnosed as CP visited our clinic with progressive weakness and spasticity of bilateral lower limbs. Next generation sequencing revealed hemizygous duplication of exon 1 in . Additionally, multiplex ligation-dependent probe amplification assay of the patient's mother showed the same mutation, which could finally confirm the diagnosis as PMD. This patient received comprehensive rehabilitation program, and helped the patient to achieve functional improvement. Proper diagnosis and therapeutic plan will be needed for the patients with PMD, before diagnosing CP rashly.
佩利措伊斯-梅茨巴赫病（PMD）是一种X连锁隐性疾病，由蛋白脂蛋白1（PLP1）基因突变导致中枢神经系统髓鞘形成异常。我们报告1例PMD患者，其第1外显子重复，此前被误诊为脑瘫（CP）。一名既往诊断为CP的25岁男性因双侧下肢进行性无力和痉挛前来我院就诊。二代测序显示PLP1基因第1外显子半合子重复。此外，对患者母亲进行的多重连接依赖探针扩增检测显示相同突变，最终确诊为PMD。该患者接受了综合康复治疗方案，功能得到改善。对于PMD患者，在轻率诊断为CP之前，需要进行正确诊断并制定治疗方案。
