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Intracranial Calcifications and Ocular Abnormalities in a Child with Neurodevelopmental Delay
- Source :
- Journal of Pediatric Neurology and Neuroscience. 5
- Publication Year :
- 2021
- Publisher :
- sPage.direcT, 2021.
-
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.
- 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
Subjects
Details
- ISSN :
- 26424797
- Volume :
- 5
- Database :
- OpenAIRE
- Journal :
- Journal of Pediatric Neurology and Neuroscience
- Accession number :
- edsair.doi...........9217b4843236108cdb3eeaa78619dd5d