ICNC Abstracts, ICNC 2018

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A Novel COL4A1 Mutation In A Child Of Indian Origin Presenting As Congenital Cataracts and Hemiplegia
Siddharth Shah, Dr Drushi Patel

Last modified: 2018-09-09

Abstract


A currently 16 year old girl presented to us when she was 11 years of age. She had a history of an uneventful birth. She was diagnosed to have bilateral cataracts and operated at 5 months of age. She started having seizures at 6 months of age which were focal with secondary generalization. She has a history of developmental delay and attends a special needs school.

On examination she has a right side hemiparesis.

She has a younger male sibling, age 14 years with no medical history.

No family history of stroke / cataracts/ epilepsy.

On MRI she has gliosis with volume loss is noted in left fronto-parietal periventricular white matter, centrum semiovale and ganglio-capsular regions with ex vacuo dilatation of left lateral ventricle.Confluent hyperintense signal is seen involving right fronto-parietal periventricular white matter and centrum semiovale on FLAIR images suggest white matter ischemic changes.

On single gene testing of COL4A1 she was confirmed to have a novel c.2327G>T p.(Gly776Val) heterozygous mutation which was pathogenic.

There are no previous publications of a COL4A1 mutation from an Indian patient. Worldwide children with mutations in COL4A1 and even COL4A2 gene have been reported with varying clinical presentation. A combination of cataracts and hemiplegia has been reported.Mutations in COL4A1 are a differential when patients with a ‘Cerebral Palsy’ present without any significant illness or admission in neonatal period or infancy.



Keywords


COL4A1 Mutation; Congenital; Cataracts; Hemiplegia

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