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

Mahmoud F. Elsaid, Yanick J. Crow, John H. Livingston, Tawfeg Ben-Omran

    Research output: Contribution to journalArticlepeer-review

    Abstract

    We report on amother 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 pseudodominance for an autosomal recessive trait. © 2010 Wiley-Liss, Inc.
    Original languageEnglish
    Pages (from-to)943-946
    Number of pages3
    JournalAmerican Journal of Medical Genetics, Part A
    Volume152
    Issue number4
    DOIs
    Publication statusPublished - Apr 2010

    Keywords

    • Arab
    • Corpus callosum
    • Internal capsule
    • Intracranial calcification
    • Qatar

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