Intracranial Calcifications in Young Children

Intracranial calcifications in young infants, while suggesting intrauterine infections, can also be due to numerous other conditions, including rare genetic disorders. We describe two children in whom the presence and pattern of intracranial calcifications led to the diagnosis of uncommon genetic di...

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Bibliographic Details
Published in:Seminars in pediatric neurology 2018-07, Vol.26, p.135-139
Main Authors: Dugan, Sarah L., MD, Botto, Lorenzo D., MD, Hedlund, Gary L., DO, Bale, James F., MD
Format: Article
Language:English
Subjects:
Neurology
Pediatrics
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Summary:Intracranial calcifications in young infants, while suggesting intrauterine infections, can also be due to numerous other conditions, including rare genetic disorders. We describe two children in whom the presence and pattern of intracranial calcifications led to the diagnosis of uncommon genetic disorders, Adams-Oliver syndrome and Aicardi-Goutieres syndrome. Differentiating genetic conditions from intrauterine infections or other causes of intracranial calcifications enables practitioners to provide accurate counseling regarding prognosis and recurrence risk.
ISSN:1071-9091
1558-0776
DOI:10.1016/j.spen.2017.03.022