Severe Hypotonia, Nystagmus and Hypomyelination in A 9-Month Female Infant: Diagnosing Pelizaeus–Merzbacher Disease Outside the Usual Inheritance Patterns

Panagiotis Krepis, Maria Ni

Abstract

Pelizaeus-Merzbacher disease is a rare X-linked recessive disorder regarding the defective myelin sheath formation in the CNS neurons due to mutations of the proteolipid protein 1 gene (PLP1). Even though it is predominant in males, affected females have been found to represent a small proportion in the medical literature 1. A wide variety of PLP1 mutations have been reported as a cause. Herein, we describe the case of a 9-month-old female with (bearing) the typical features of the disease who was found to have a rare mutation.