# Hypomyelination With Congenital Cataract: A Rare Genetic Leukodystrophy

## TL;DR

This paper presents a rare genetic disorder causing brain myelination issues and cataracts, emphasizing early diagnosis and multidisciplinary care.

## Contribution

The novelty lies in reporting a new case of HCC with consanguineous background and highlighting diagnostic and management approaches.

## Key findings

- The patient exhibited bilateral cataracts, microcephaly, and brain hypomyelination.
- Cataract surgery and rehabilitation were part of the multidisciplinary management.
- Early recognition of ophthalmic and neurological signs is crucial for diagnosis.

## 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.