Ueda Ayako, Shimbo Hiroko, Yada Yukari, Koike Yasunori, Yamagata Takanori, Osaka Hitoshi
Division of Pediatrics, Jichi Medical University, Shimotsuke, Japan.
Clinical Research Institute, Kanagawa Children's Medical Center, Kanagawa Children's Medical Center, Yokohama, Japan.
Hum Genome Var. 2018 Mar 29;5:18013. doi: 10.1038/hgv.2018.13. eCollection 2018.
Pelizaeus-Merzbacher disease (PMD; MIM #312080) is a rare X-linked recessive disorder. A male neonate presented with severe respiratory distress that required tracheostomy. After the appearance of nystagmus, PMD was suspected as a diagnosis for the patient, and a missense mutation, p.Phe51Val, was identified in , the gene responsible for PMD. PMD can be a differential diagnosis in a male neonate presenting severe respiratory distress.
佩利措伊斯-梅茨巴赫病（PMD；MIM #312080）是一种罕见的X连锁隐性疾病。一名男性新生儿出现严重呼吸窘迫，需要进行气管切开术。出现眼球震颤后，怀疑该患者患有佩利措伊斯-梅茨巴赫病，并在导致佩利措伊斯-梅茨巴赫病的基因中发现了一个错义突变p.Phe51Val。对于出现严重呼吸窘迫的男性新生儿，佩利措伊斯-梅茨巴赫病可能是一个鉴别诊断。
