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

Authors

  • Ahmad Izani Mohd Safian Department of Otorhinolaryngology- Head & Neck Surgery, School of Medical Sciences, Universiti Sains Malaysia, 16150 Kota Bharu, Kelantan, Malaysia
  • Ahmad Ridzuan Rozi Department of Paediatrics, School of Medical Sciences, Universiti Sains Malaysia, Health Campus, 16150 Kota Bharu, Kelantan, Malaysia
  • Azliana Aziz Department of Otorhinolaryngology- Head & Neck Surgery, School of Medical Sciences, Universiti Sains Malaysia, 16150 Kota Bharu, Kelantan, Malaysia
  • Hazama Mohamad Department of Otorhinolaryngology- Head & Neck Surgery, School of Medical Sciences, Universiti Sains Malaysia, 16150 Kota Bharu, Kelantan, Malaysia
  • Suzina Sheikh Ab Hamid Department of Otorhinolaryngology- Head & Neck Surgery, School of Medical Sciences, Universiti Sains Malaysia, 16150 Kota Bharu, Kelantan, Malaysia

DOI:

https://doi.org/10.51407/mjpch.v27i1.129

Keywords:

Pelizaeus-Merzbacher Disease, Eye movements, Opisthotonus, Congenital Stridor

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.

Downloads

Download data is not yet available.

References

Cristina MG, Andreea S et al. Causes of stridor in newborns. Arch. of the Balkan Med. Uni. 2018;53(2):272-4.

Sawatsubashi M, Umezaki T, Kusano K, Tokunaga O, Oda M, Komune S. Age-related changes in the hyoepiglottic ligament: Functional implications based on histopathologic study. Am J Otolaryngol - Head Neck Med Surg. 2010;31(6):448–52.

Jani P, Koltai P, Ochi JW, Bailey CM. Surgical treatment of laryngomalacia. J Laryngol Otol. 1991;105(12):1040–5.

Najafi K, Kariminejad R, Hosseini K, Moshtagh A, Abbassi GM, Sadatian N, et al. Familial case of Pelizaeus-Merzbacher Disorder detected by oligoarray comparative genomic hybridization: Genotype-to-phenotype diagnosis. Case Rep Genet. 2017;2017:1–4.

Giannoni C, Sulek M, Friedman EM, Duncan III NO. Gastroesophageal reflux association with laryngomalacia: a prospective study. International Journal of Pediatric Otorhinolaryngology. 1998;43(1):11-20.

Belmont JR, Grundfast K. Congenital laryngeal stridor (laryngomalacia) etiologic factors and associated disorders. Ann Otol Rhinol Laryngol. 1984;93(5):430–7.

Torii T, Miyamoto Y, Yamauchi J, Tanoue A. Pelizaeus-Merzbacher disease: Cellular pathogenesis and pharmacologic therapy. Pediatr Int. 2014;56(5):659–66.

Laukka JJ, Kamholz J, Bessert D, Skoff RP. Novel pathologic findings in patients with Pelizaeus-Merzbacher disease. Neurosci Lett. 2016;627:222–32.

Xie H, Feng H, Ji J, Wu Y, Kou L, Li D, et al. Identification and functional study of novel PLP1 mutations in Chinese patients with Pelizaeus-Merzbacher disease. Brain Dev. 2015;37(8):797–802.

Laukka JJ, Kamholz J, Bessert D, Skoff RP. Novel pathologic findings in patients with Pelizaeus-Merzbacher disease. Neurosci Lett. 2016;627:222–32.

Garbern JY. Pelizaeus-Merzbacher disease: Pathogenic mechanisms and insights into the roles of proteolipid protein 1 in the nervous system. In: Journal of the Neurological Sciences. Elsevier.2005;2005:201–3.

Mierzewska H, Jamroz E, Mazurczak T, Hoffman-Zacharska D, Szczepanik E. Pelizaeus-Merzbacher disease in patients with molecularly confirmed diagnosis. Folia Neuropathol. 2016;54(1):59–65.

K. Inoue, H. Tanaka, F. Scaglia, A. Araki, L. G. Shaffer, and J. R. Lupski. Compensating for central nervous system dysmyelination: females with a proteolipid protein gene duplication and sustained clinical improvement. Annals of Neurology. 2001;50(6):747–54.

C.R. Pierson. Pelizaeus-Merzbacher disease. Encyclopedia of the neurological sciences. 2014;2:849-53.

Downloads

Published

2021-06-01

How to Cite

Mohd Safian, A. I., Rozi, A. R., Aziz, A., Mohamad, H., & Sheikh Ab Hamid, S. (2021). Pelizaeus-Merzbacher Disease as a Rare Cause of Stridor in an Infant with Severe Reflux and Hypotonia. Malaysian Journal of Paediatrics and Child Health, 27(1), 31-36. https://doi.org/10.51407/mjpch.v27i1.129

Issue

Section

Case Report

Most read articles by the same author(s)