Pelizaeus-Merzbacher disease in children: A case report

Pelizaeus-Merzbacher disease (PMD) is a rare disease and can be defined as an X-linked recessive leukodystrophy. This is a progressive and unremitting disorder of myelination that results in serious neurological disability and currently has no specific treatment, causing severe impacts on patients and their families. This report presents a 3-year-1-month-old girl with PMD which had onset at age 2 due to gait disorder. She was detected with abnormalities on magnetic resonance imaging (MRI) and is in the process of finding the cause of the disease. PMD is a rare leukodystrophy with significant clinical implications for affected individuals and their families. Magnetic resonance imaging (MRI) is crucial for the early detection, characterization, diagnosis, and monitoring of leukodystrophies in general, and PMD in particular.