COL4A1 mutation in an Indian child presenting as ‘Cerebral Palsy’ mimic

COL4A1 mutation in an Indian child presenting as ‘Cerebral Palsy’ mimic

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 th...

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Main Authors: Siddharth M Shah, Drushi D Patel
Format: Article
Language:English
Published: Thieme Medical and Scientific Publishers Pvt. Ltd. 2020-10-01
Series:Indian Journal of Radiology and Imaging
Subjects:
cerebral palsy
col4a1 gene mutation
epilepsy; gliosis
magnetic resonance imaging
paediatric congenital cataract
Online Access:http://www.thieme-connect.de/DOI/DOI?10.4103/ijri.IJRI_274_20
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spelling doaj-20891cf6dfb44abea7fab9b421a7ce302021-07-14T23:00:06ZengThieme Medical and Scientific Publishers Pvt. Ltd.Indian Journal of Radiology and Imaging0971-30261998-38082020-10-01300450050310.4103/ijri.IJRI_274_20COL4A1 mutation in an Indian child presenting as ‘Cerebral Palsy’ mimicSiddharth M Shah0Drushi D Patel1Consultant Paediatric Neurologist, Royal Institute of Child Neurosciences, Ahmedabad, Gujarat, IndiaConsultant Radiologist, Gujarat Imaging Centre, Samved Hospital, Post Graduate Institute of Radiology and Imaging, Ahmedabad, Gujarat, IndiaThe 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.http://www.thieme-connect.de/DOI/DOI?10.4103/ijri.IJRI_274_20cerebral palsycol4a1 gene mutationepilepsy; gliosismagnetic resonance imagingpaediatric congenital cataract
collection DOAJ
language English
format Article
sources DOAJ
author Siddharth M Shah
Drushi D Patel
spellingShingle Siddharth M Shah
Drushi D Patel
COL4A1 mutation in an Indian child presenting as ‘Cerebral Palsy’ mimic
Indian Journal of Radiology and Imaging
cerebral palsy
col4a1 gene mutation
epilepsy; gliosis
magnetic resonance imaging
paediatric congenital cataract
author_facet Siddharth M Shah
Drushi D Patel
author_sort Siddharth M Shah
title COL4A1 mutation in an Indian child presenting as ‘Cerebral Palsy’ mimic
title_short COL4A1 mutation in an Indian child presenting as ‘Cerebral Palsy’ mimic
title_full COL4A1 mutation in an Indian child presenting as ‘Cerebral Palsy’ mimic
title_fullStr COL4A1 mutation in an Indian child presenting as ‘Cerebral Palsy’ mimic
title_full_unstemmed COL4A1 mutation in an Indian child presenting as ‘Cerebral Palsy’ mimic
title_sort col4a1 mutation in an indian child presenting as ‘cerebral palsy’ mimic
publisher Thieme Medical and Scientific Publishers Pvt. Ltd.
series Indian Journal of Radiology and Imaging
issn 0971-3026
1998-3808
publishDate 2020-10-01
description 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.
topic cerebral palsy
col4a1 gene mutation
epilepsy; gliosis
magnetic resonance imaging
paediatric congenital cataract
url http://www.thieme-connect.de/DOI/DOI?10.4103/ijri.IJRI_274_20
work_keys_str_mv AT siddharthmshah col4a1mutationinanindianchildpresentingascerebralpalsymimic
AT drushidpatel col4a1mutationinanindianchildpresentingascerebralpalsymimic
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