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[Clinical features and diagnosis of Pelizaeus-Merzbacher disease: five case reports]
E Espinosa1,2,3, P R Mera-Solarte1,2,3, J E Cote-Orozco1,2,3
1Instituto de Ortopedia Infantil Roosevelt, Bogota DC, Colombia.
Introduction:
Pelizaeus-Merzbacher disease is an infrequent hypomyelinating disorder caused by alterations in the PLP1 gene, which leads to a fault in the axonal myelination of the oligodendrocytes in the central nervous system. Two forms have been reported, according to the severity of the presentation: connatal and classic. It is characterised by neonatal hypotonia, delayed psychomotor development, progressive spasticity predominantly in the lower limbs and nystagmus, with pyramidal and extrapyramidal signs and symptoms; the connatal form is far more severe. Magnetic resonance imaging shows diffuse hypomyelinating leukoencephalopathy, evoked potentials are usually altered and confirmation is obtained through a molecular study of the PLP1 gene.
Case Reports:
We present the cases of five paediatric patients, four of whom had the classic form and one with the connatal form. The clinical characteristics and complementary studies are described, and a concise review of the literature is carried out.
Conclusion:
This disease has a progressive and almost unvarying course, which is the clinical key to be able to differentiate it from other entities such as infantile cerebral palsy, peripheral neuropathies or multiple sclerosis, among others, in addition to the characteristic neuroimaging findings. It is necessary to suspect this diagnosis and confirm alterations in the PLP1 gene with the aim of obtaining a real incidence of this entity, which is probably underestimated, like other leukodystrophies.
Insights
Pelizaeus-Merzbacher disease is a rare genetic disorder affecting myelin in the central nervous system due to PLP1 gene mutations. Early diagnosis through genetic testing is crucial for understanding its prevalence and managing this progressive leukodystrophy.
Area of Science:
- Neuroscience
- Genetics
- Pediatrics
Background:
- Pelizaeus-Merzbacher disease (PMD) is a rare hypomyelinating leukodystrophy.
- It stems from mutations in the PLP1 gene, impacting oligodendrocyte myelination in the central nervous system.
- PMD presents in connatal (severe) and classic forms, with distinct clinical manifestations.
Observation:
- This study details five pediatric cases of PMD, including four classic and one connatal form.
- Clinical features, diagnostic studies, and a literature review are presented.
- Neuroimaging reveals diffuse hypomyelinating leukoencephalopathy, often with altered evoked potentials.
Findings:
- PMD is characterized by neonatal hypotonia, psychomotor delay, progressive spasticity, and nystagmus.
- The disease follows a progressive and consistent clinical course.
- Molecular confirmation relies on identifying PLP1 gene alterations.
Implications:
- Recognizing PMD's distinct clinical and neuroimaging features is vital for differentiating it from conditions like cerebral palsy or multiple sclerosis.
- Suspecting PMD and confirming PLP1 gene mutations can help ascertain its true incidence, likely underestimated.
- Accurate diagnosis is essential for patient management and understanding leukodystrophies.
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