目的 探讨佩梅病的临床、影像及遗传学特征。方法 回顾分析及随访1个核心家系中兄弟两人同患佩梅病 的临床资料。结果 先证者男性，7岁，弟弟5岁，均表现为自幼运动发育迟缓，不能独站、独走，而智力发育基本不受影响。 T 2加权像头颅磁共振成像表现为脑白质弥漫性高信号。先证者及弟弟均存在蛋白脂蛋白1（PLP1）基因c.259delC半合子 变异；母亲为携带者。兄弟两人均确诊为中间型佩梅病。随访3年，运动功能异常加重，先证者仅能短暂扶站，四肢肌力Ⅲ级； 先证者弟弟足踝变形，明显足内翻，无法扶站；智力均无明显倒退。结论 发现国内未见报道的PLP1基因c.259delC半合 子变异所致佩梅病。

Objective To explore the clinical characteristics, imaging and genetic features of two brothers in a core family with Pelizaeus-Merzbache disease. Methods The clinical data of two brothers in a core family with Pelizaeus-Merzbache disease were retrospectively analyzed and followed up. Results Both the proband (male, 7 years old) and his younger brother ( 5 years old ) showed motor retardation since childhood, and so far they cannot stand and walk alone, but their intellectual development is basically unaffected. The brain magnetic resonance imaging (MRI) T 2 -weighted image showed diffuse hyperintensities in white matter. Both the proband and the younger brother had a hemizygous mutation of c. 259 delC in the proteolipid protein 1 gene. The proband’s mother was acarrier. Combined with family history, clinical manifestations and gene detection data, the type of the two brothers with Pelizaeus-Merzbache disease in a family was confimed. After 3 years followup, the motor function of both brothers was regressed. The proband can only stand with support for a short time, and the muscle strength of the limbs was grade III. the younger brother of the proband had deformed ankles and obviously talipes equinovarus， and cannot stand with support. In contrast, there was no obvious regression in their intelligence. Conclusion The two brothers had typical clinical features of Pelizaeus-Merzbache disease. With combination of clinical features and gene sequencing, they were diagnosed as Pelizaeus-Merzbache disease.