COL4A1 mutation in an Indian child presenting as & #8216;Cerebral Palsy & #8217; mimic

We present a case of an 11-year-old girl with right hemiparesis, congenital cataracts, epilepsy and magnetic resonance imaging (MRI) brain findings with a pathogenic COL4A1 mutation. Many of her clinical features are similar to those of a non-genetic cause of cerebral palsy highlighting the difficulties and delays in making this genetic diagnosis.

Source: Indian Journal of Radiology and Imaging - January 13, 2021 Category: Radiology Authors: Siddharth M Shah Drushi D Patel Source Type: research