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Developmental Delay, Hypomyelination, and Nystagmus: Case and Approach.
L G Ramanzini1, J M Frare2, T F Lopes1
1Medical School, Department of Neuropsychiatry, Center of Health Sciences, Federal University of Santa Maria (UFSM), Santa Maria, Brazil.
Neuro-Ophthalmology (Aeolus Press)
|August 15, 2024
Summary
Pelizaeus-Merzbacher-like disease (PMLD) is a rare genetic disorder causing developmental delay and hypomyelination. Diagnosis involves GJC2 gene variants, distinguishing it from PMD and offering a better prognosis.
Area of Science:
- Genetics
- Neurology
- Pediatrics
Background:
- Pelizaeus-Merzbacher-like disease (PMLD) is an autosomal recessive hypomyelinating leukodystrophy.
- It is caused by homozygous variants in the GJC2 gene.
- PMLD typically presents in infancy with nystagmus, developmental delay, and diffuse brain hypomyelination.
Observation:
- A 3-year-old boy presented with nystagmus and global developmental delay.
- Brain MRI revealed diffuse hypomyelination, including the cerebellum.
- Initial suspicion of Pelizaeus-Merzbacher disease (PMD) was ruled out due to negative PLP1 gene variant testing.
Findings:
- Exome sequencing identified GJC2 gene variants, confirming a diagnosis of PMLD.
- The patient exhibited global developmental delay, hypomyelination, and nystagmus.
- Unlike PMD, PMLD frequently involves brainstem and cerebellar hypomyelination with normal brainstem auditory evoked potentials.
Implications:
- The clinical presentation of nystagmus, developmental delay, and hypomyelination warrants consideration of both PMD and PMLD.
- Distinguishing PMLD from PMD is crucial due to differences in affected brain regions and prognosis.
- PMLD, while rare, should be included in the differential diagnosis for children with these neurological symptoms.
