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1. Intracranial Calcifications and Ocular Abnormalities in a Child with Neurodevelopmental Delay

Author

Rajaprakash Meghna, Sell Erick, and Heymans Jessica

Subjects
Pathology, medicine.medical_specialty, medicine.diagnostic_test, business.industry, Congenital cytomegalovirus infection, medicine.disease, Porencephaly, Congenital cataracts, Medicine, Neurodevelopmental delay, Cerebellar hypoplasia (non-human), Intracranial calcification, business, TORCH Infection, Genetic testing
Abstract

A patient with neurodevelopmental delay and an unremarkable prenatal and birth history presented postnatally with congenital cataracts and neuroanatomical abnormalities including periventricular calcifications, porencephaly, and cerebellar hypoplasia. Although there was initial suspicion for a TORCH infection including cytomegalovirus, further genetic testing revealed a novel COL4A1 mutation, which involves type 4 collagen alpha 1 chain, an important component of vasculature.

Published
2021

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