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

Ahmad Izani Mohd Safian,Hazama Mohamad,Suzina Sheikh Ab Hamid,Azliana Aziz,Ahmad Ridzuan Rozi

doi:10.51407/mjpch.v27i1.129

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.

Highlights

Congenital stridor occurred due to the narrowed which is caused by a mutation in the proteolipid or partially blocked airway mostly caused by protein 1 (PLP1) gene. It is characterized by laryngomalacia (LM) and can be established by a developmental delay, abnormal eye movements, combination of highly suggestive history, clinical progressive hypotonia and involuntary presentation as well as endoscopic evaluation to movements
Malaysian Journal of Paediatrics and Child Health (MJPCH) | (June 2021) | Page 32 of 36 presented in Pelizaeus-Merzbacher Disease (PMD), progressive hypotonia may affect pharyngeal and laryngeal muscles which will lead to persistent stridor and severe reflux esophagitis
There were few literatures had written about the co-existing findings of reflux esophagitis in up to 80% of patients with LM and it has led to the surgical failure of supraglottoplasty [6]

Summary

Introduction

Congenital stridor occurred due to the narrowed which is caused by a mutation in the proteolipid or partially blocked airway mostly caused by protein 1 (PLP1) gene. Despite close monitoring until the age of two years old, neurological findings in physical examination, there is a small percentage of the abnormal myelination in magnetic resonance patient will have a severe form of LM requiring imaging (MRI) of the brain together with surgical intervention [3]. Malaysian Journal of Paediatrics and Child Health (MJPCH) | (June 2021) | Page 32 of 36 presented in PMD, progressive hypotonia may affect pharyngeal and laryngeal muscles which will lead to persistent stridor and severe reflux esophagitis. The diagnosis of PMD in the patient’s brother was confirmed at the age of 2 years old after the molecular genetic testing revealed hemizygous for PLP1 c.736G>A p.(Gly246Arg) likely pathogenic variant and abnormal myelination in MRI brain. The patient was already discharged home, able to breathe via tracheostomy without needing any oxygen supplementation and on nasogastric tube feeding

Findings

Discussion

Conclusion