Pelizaeus-Merzbacher Disease as a Rare Cause of Stridor in an Infant with Severe Reflux and Hypotonia

Abstract

Stridor is high-pitched, noisy breathing that occurs as a result of a narrowed airflow. It is considered as a respiratory emergency in which if left untreated, may lead to death. The most common cause of stridor in paediatric is laryngomalacia (LM). Nevertheless, other causes of persistent stridor in infant have to be ruled out, in the case of failed surgical therapy. Here, we report a rare case of a three-month-old infant boy with persistent stridor since birth who had undergone aryepiglottoplasty for LM at day ten of life and was referred back to the hospital due to worsening of stridor with signs of respiratory distress and subsequently he was diagnosed with Pelizaeus-Merzbacher Disease (PMD). This is the first report to discuss on PMD as a rare differential diagnosis of stridor.