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Updated: May 17, 2025

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Pelizaeus-Merzbacher Disease as a Cause of Early-Onset Developmental Delay: A Case Report

Michela Galea1, Miriana Cocker1, Doriette Soler1

  • 1Paediatrics, Mater Dei Hospital, Msida, MLT.

Cureus
|May 16, 2025
PubMed

Insights

Pelizaeus-Merzbacher disease (PMD), a rare X-linked disorder affecting myelin formation, was diagnosed late in a male patient. This case highlights diagnostic challenges and the potential of biotin as a supportive therapy.

Area of Science:

  • Neuroscience
  • Genetics
  • Biochemistry

Background:

  • Pelizaeus-Merzbacher disease (PMD) is a rare, X-linked hypomyelinating leukodystrophy.
  • It results from mutations in the proteolipid protein 1 (PLP1) gene, crucial for central nervous system myelin formation.

Observation:

  • A male patient presented with developmental delay at three months, diagnosed with PMD at 10 years and 7 months.
  • Investigations revealed a rare deletion of exon 16 (c.330C>T, p.D110D) in the PLP1 gene, with uncharacterized pathogenicity.
  • The patient's clinical course and diagnostic investigations are detailed.

Findings:

  • The study identifies a novel, extremely rare heterozygous nucleotide variation (c.330C>T, p.D110D) in the PLP1 gene associated with PMD.
  • The pathogenicity of this specific variation has not been previously documented.

Implications:

  • Early identification of PMD cases can be improved through understanding initial presentations and diagnostic workup.
  • Biotin supplementation is explored as a potential symptomatic treatment for PMD, given the lack of curative options.
Keywords:
global developmental delay (gdd)hypomyelinationleukodystrophypelizaeus-merzbacher diseaseplp1 gene

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