Connatal Pelizaeus-Merzbacher disease: A great masquerader

Abstract

Sir, Pelizaeus-Merzbacher disease (PMD) is a rare neurogenetic disorder caused by mutations of the proteolipid protein 1 (PLP1) gene on the X chromosome. Connatal form is characterised by neonatal onset, congenital nystagmus, stridor, hypotonia and diffuse leukoencephalopathy. 1 We present a case mimicking birth asphyxia, vocal cord palsy, cerebral palsy and neuromuscular disorder. A male infant was born at 36 wk gestation by normal delivery. Fetal bradycardia was noted prior to birth. He was born pale, hypotonic and needed resuscitation and ventilation at birth. Apgar score was 2 and 4 at 1 and 5 min respectively. He developed bilateral vocal cord palsy and a tracheostomy was performed. Motor developmental milestones were delayed and he had marked hypotonia and hyporeflexia. He also developed ocular nystagmus but was visually very responsive. By 10 mo of age, he made some developmental progress but was still hypotonic with head lag. A diagnosis of “cerebral palsy” was made and was later referred to our centre in view of unusual presentation and