Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
8690955 | Seminars in Pediatric Neurology | 2018 | 21 Pages |
Abstract
Intracranial calcifications in young infants, while suggesting intrauterine infections, can also be due to numerous other conditions, including rare genetic disorders. We describe 2 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.
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Authors
Sarah L. MD, Lorenzo D. MD, Gary L. DO, James F. MD,