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CASE REPORT Table of Contents   
Year : 2020  |  Volume : 30  |  Issue : 4  |  Page : 500-503
COL4A1 mutation in an Indian child presenting as ‘Cerebral Palsy’ mimic

1 Consultant Paediatric Neurologist, Royal Institute of Child Neurosciences, Ahmedabad, Gujarat, India
2 Consultant Radiologist, Gujarat Imaging Centre, Samved Hospital, Post Graduate Institute of Radiology and Imaging, Ahmedabad, Gujarat, India

Correspondence Address:
Dr. Drushi D Patel
Gujarat Imaging Centre, Post Graduate Institute of Radiology and Imaging, Samved Hospital. 1st Floor, On H.L Commerce – Stadium Circle Road, Navrangpura, Ahmedabad - 380 009, Gujarat
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/ijri.IJRI_274_20

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The COL4A1 gene (COL4A1) plays an important role in vascular basement membrane function and pathogenic mutations have been reported in mice and humans. The gene is expressed mainly in the human brain, eyes and kidneys. Pathogenic mutations result in a vast array of manifestations that can present throughout life including the foetal period. 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.

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