A Patient With Pelizaeus-Merzbacher Disease Caused by a c.67G>A Mutation in the PLP1 Gene.

Abstract

Pelizaeus-Merzbacher disease is a tremendously rare genetic disorder caused by a mutation on the X chromosome. The mutation affects a gene critical to white matter myelination and results in significant neurological issues. Here, we present one such case of a child diagnosed with Pelizaeus-Merzbacher disease. A relatively normal gestation and birth belied the underlying issue until he presented to the emergency department a month after birth with seizure-like activity and failure to thrive. After intensive evaluation and treatment, the patient was diagnosed with the illness and received surgery to place a tracheostomy and a gastrostomy tube to treat the stridor and failure to thrive caused by his illness. After approximately a month and a half of inpatient treatment, the patient was able to be discharged home in stable condition.

• Authors: Mohammad Usman, Alexis Koch, Laurence Stolzenberg, Austin Huang, Veronica E Nkie, Mohammad Ibrahim
• Journal: Cureus (Cureus) Vol. 15 Issue 7 Pg. e42458 (Jul 2023) ISSN: 2168-8184 [Print] United States
• PMID: 37637647 (Publication Type: Case Reports)
• Copyright: Copyright © 2023, Usman et al.