• Masanosuke Kinoshita and William Roston.
• Department of Family Medicine, Theodosia Family Medical Clinic, Theodosia, USA.
• JNMA J Nepal Med Assoc. 2018 Nov 1; 56 (214): 967-969.

AbstractPelizaeus Merzbacher Disease is a rare X-linked central nervous system disease involving the proteolipid protein 1 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, proteolipid protein 1 is associated with known clinical disorder; Pelizaeus Merzbacher Disease. Our case highlights the second only known female with Pelizaeus Merzbacher Disease due to deletions of proteolipid protein 1 gene. For a patient with developmental delay, the importance of performing genetic testing and/or radiological imaging early on is strongly recommended. Keywords: deletion; female; Genetic testing; Pelizaeus Merzbacher Disease; Proteolipid Protein 1.

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