Rare Case of Female with Pelizaeus Mertzbacher Disease Due to Deletion of Proteolipid Protein 1: A Case Report

Abstract

Pelizaeus Merzbacher Disease (PMD) is a rare X-linked central nervous system (CNS) disease involving the proteolipid protein 1 (PLP1) gene. Patients exhibit signs for instance nystagmus, hypotonia, ataxia. We report a three year old female patient with chief compliant of developmental delay. On physical examination, patient was alert but had poor eye contact while sitting in a stroller. Since no chromosomal evaluation was performed, a chromosomal microarray testing was performed. Review of geneticist report indicated that patient carries a deletion of at least 2.26 Mb within cytogenetic band Xq22.1 to Xq22.2 which is known to contain 39 genes. Out of the 39 genes, PLP1 is associated with known clinical disorder; PMD. Our case highlights the second only known female with PMD due to deletions of PLP1 gene. For a patient with developmental delay, the importance of performing genetic testing and/or radiological imaging early on is strongly recommended.