Pelizaeus-merzbacher disease: the first genetically approved case report from iran

Area of Science:

• Neurogenetics
• Developmental Neuroscience
• Pediatric Neurology

Background:

• Classic Pelizaeus-Merzbacher disease (PMD) is a rare X-linked disorder caused by mutations in the proteolipid protein 1 (PLP1) gene.
• Characterized by symptoms such as abnormal eye movements, psychomotor retardation, and involuntary movements, PMD affects myelin development.
• First described in 1885, PMD remains a significant challenge in pediatric neurology.

Observation:

• A 1-year-old boy presented with horizontal and flickering eye oscillation, psychomotor retardation, hypotonia, and head nodding.
• Clinical examination revealed key neurological deficits suggestive of a white matter disorder.
• Brain MRI demonstrated significant hypomyelination, a hallmark of dysmyelinating conditions.

Findings:

• The patient's clinical presentation and neuroimaging findings were consistent with Pelizaeus-Merzbacher disease.
• Hypomyelination on MRI, coupled with characteristic neurological symptoms, supports the diagnosis.
• The PLP1 gene is the primary genetic cause of PMD.

Implications:

• This case highlights the importance of considering PMD in male infants presenting with specific neurological signs.
• Early diagnosis of PMD is crucial for timely intervention and management strategies.
• Understanding the clinical spectrum of PLP1 mutations aids in diagnosing rare neurological disorders.