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Hypomyelination With Congenital Cataract: A Rare Genetic Leukodystrophy

Year: 2025

Type: article

Abstract: Hypomyelination and congenital cataract (HCC) is a rare autosomal recessive disorder characterized by a triad of bilateral cataracts, neurological impairment, and diffuse cerebral hypomyelination. We report a case of a child, born of a consanguineous marriage, who presented with tremors and delayed motor abilities. Clinical examination revealed bilateral lamellar cataracts and microcephaly. MRI brain demonstrated diffuse white matter hypomyelination. The patient underwent cataract surgery with intraocular lens implantation and was managed with supportive rehabilitation. This case highlights the importance of early recognition of ophthalmic manifestations of systemic neurogenetic disorders, the diagnostic role of neuroimaging and genetic testing, and the necessity of multidisciplinary management.

Source: Cureus

DOI: 10.7759/cureus.92632

Authors: Venkat Meghana Bhimanadham, Gayathri J Panicker

Institution: Sri Ramachandra Institute of Higher Education and Research

Language: English

Topic: Fetal and Pediatric Neurological Disorders

Subfield: Pediatrics, Perinatology and Child Health

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: diamond

OpenAlex ID: W4414327279