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

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.

SUBMITTER: Ueda A

PROVIDER: S-EPMC5874395 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature

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

Ueda Ayako A Shimbo Hiroko H Yada Yukari Y Koike Yasunori Y Yamagata Takanori T Osaka Hitoshi H

Human genome variation 20180329

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 <i>PLP1</i>, the gene responsible for PMD. PMD can be a differential diagnosis in a male neonate presenting severe respiratory distress. ...[more]

PMID: 29619238

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Chemical chaperone screening for Pelizaeus-Merzbacher disease

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2018-12-19 | GSE124034 | GEO

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