Pelizaeus-Merzbacher disease can be a differential diagnosis in males presenting with severe neonatal respiratory distress and hypotonia

Ayako Ueda; Hiroko Shimbo; Yukari Yada; Yasunori Koike; Takanori Yamagata; Hitoshi Osaka

doi:10.1038/hgv.2018.13

Pelizaeus-Merzbacher disease can be a differential diagnosis in males presenting with severe neonatal respiratory distress and hypotonia

Hum Genome Var. 2018 Mar 29:5:18013. doi: 10.1038/hgv.2018.13. eCollection 2018.

Authors

Ayako Ueda¹, Hiroko Shimbo², Yukari Yada¹, Yasunori Koike¹, Takanori Yamagata¹, Hitoshi Osaka¹

Affiliations

¹ Division of Pediatrics, Jichi Medical University, Shimotsuke, Japan.
² Clinical Research Institute, Kanagawa Children's Medical Center, Kanagawa Children's Medical Center, Yokohama, Japan.

Abstract

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 PLP1, the gene responsible for PMD. PMD can be a differential diagnosis in a male neonate presenting severe respiratory distress.