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Learning Disabilities

Learning Disabilities

Learning disabilities are cognitive disorders caused by neurological impairments that affect cognitive functions like language and reading, without indicating overall intellectual or developmental challenges. These disabilities differ from global intellectual or developmental disabilities as they are limited to distinct cognitive functions. Common learning disabilities include dysgraphia, dyslexia, and dyscalculia, each of which impacts unique aspects of learning.
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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.

Keywords:

Hypomyelination Pelizaeus-Merzbacher-like disease nystagmus

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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.