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.
Copyright © 2017. Published by Elsevier Inc.
MeSH terms
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Autoimmune Diseases of the Nervous System / diagnosis*
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Autoimmune Diseases of the Nervous System / genetics
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Brain / diagnostic imaging
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Brain Diseases / diagnosis*
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Brain Diseases / genetics
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Calcinosis / diagnosis*
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Calcinosis / genetics
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Child
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Diagnosis, Differential
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Ectodermal Dysplasia / diagnosis*
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Ectodermal Dysplasia / genetics
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Female
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Humans
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Limb Deformities, Congenital / diagnosis*
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Limb Deformities, Congenital / genetics
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Nervous System Malformations / diagnosis*
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Nervous System Malformations / genetics
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Scalp Dermatoses / congenital*
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Scalp Dermatoses / diagnosis
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Scalp Dermatoses / genetics
Supplementary concepts
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Adams Oliver syndrome
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Aicardi-Goutieres syndrome