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New subtype of familial intracranial calcification in a mother and two children.

Authors
Journal
American Journal of Medical Genetics Part A
1552-4825
Publisher
Wiley Blackwell (John Wiley & Sons)
Publication Date
Disciplines
  • Medicine

Abstract

We report on a mother and two children from a consanguineous Arab Qatari family demonstrating a highly distinctive pattern of intracranial calcification involving the globus pallidus, posterior limb of the internal capsule, genu of the corpus callosum, and deep white matter. Both siblings, a girl and boy, presented with neonatal seizures without subsequent deterioration in neurological function. The girl demonstrated mild to moderate psychomotor delay but her brother and mother showed completely normal development. All three affected individuals were normocephalic. To the best of our knowledge this phenotype represents a novel disorder of inherited brain calcification, which may be recognizable on computerized tomography brain imaging in other cases. Although the disease shows apparent autosomal dominant inheritance, the high degree of consanguinity in the family leaves open the possibility of pseudo-dominance for an autosomal recessive trait.

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