Intracranial Calcifications in Young Children

Semin Pediatr Neurol. 2018 Jul:26:135-139. doi: 10.1016/j.spen.2017.03.022. Epub 2017 Apr 2.

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.

Publication types

  • Case Reports

MeSH terms

  • Autoimmune Diseases of the Nervous System / diagnosis*
  • Autoimmune Diseases of the Nervous System / genetics
  • Brain / diagnostic imaging
  • Brain Diseases / diagnosis*
  • Brain Diseases / genetics
  • Calcinosis / diagnosis*
  • Calcinosis / genetics
  • Child
  • Diagnosis, Differential
  • Ectodermal Dysplasia / diagnosis*
  • Ectodermal Dysplasia / genetics
  • Female
  • Humans
  • Limb Deformities, Congenital / diagnosis*
  • Limb Deformities, Congenital / genetics
  • Nervous System Malformations / diagnosis*
  • Nervous System Malformations / genetics
  • Scalp Dermatoses / congenital*
  • Scalp Dermatoses / diagnosis
  • Scalp Dermatoses / genetics

Supplementary concepts

  • Adams Oliver syndrome
  • Aicardi-Goutieres syndrome