Hypomyelination and Congenital Cataract: Three Siblings Presentation.

Area of Science:

• Genetics and Neurology
• Molecular Medicine
• Neuroscience

Background:

• Hypomyelination and congenital cataract (HCC) is a rare genetic disorder.
• It is caused by mutations in the FAM126A gene.
• HCC is characterized by congenital cataract, progressive neurologic impairment, and myelin deficiency.

Observation:

• Three siblings presented with bilateral congenital cataract and progressive neurological impairment.
• Brain MRI revealed diffuse hypomyelination.
• Neurophysiological studies indicated sensorimotor peripheral polyneuropathy.

Findings:

• The clinical presentation and neuroimaging findings in these siblings are consistent with HCC.
• This case series underscores the importance of identifying hypomyelination in MRI for diagnosing undiagnosed leukoencephalopathies.
• Peripheral neuropathy is a significant clinical feature in HCC patients.

Implications:

• Accurate diagnosis of HCC requires correlating clinical, neuroradiological, and neurophysiological findings.
• Identifying these key features can guide clinicians toward appropriate molecular investigations for rare genetic disorders.
• This research aids in understanding the spectrum of hypomyelination disorders and their genetic basis.