Band-like intracranial calcification with simplified gyration and polymicrogyria: A distinct "pseudo-TORCH" phenotype

Yanick Crow, T. A. Briggs, N. I. Wolf, S. D'Arrigo, F. Ebinger, I. Harting, W. B. Dobyns, J. H. Livingston, G. I. Rice, D. Crooks, C. A. Rowland-Hill, W. Squier, N. Stoodley, D. T. Pilz, Y. J. Crow

    Research output: Contribution to journalArticlepeer-review

    Abstract

    The combination of intracranial calcification and polymicrogyria is usually seen in the context of intrauterine infection, most frequently due to cytomegalovirus. Rare familial occurrences have been reported. We describe five patients - two male-female sibling pairs, one pair born to consanguineous parents, and an unrelated female - with a distinct pattern of band-like intracranial calcification associated with simplified gyration and polymicrogyria. Clinical features include severe post-natal microcephaly, seizures and profound developmental arrest. Testing for infectious agents was negative. We consider that these children have the same recognizable "pseudo-TORCH" phenotype inherited as an autosomal recessive trait. © 2008 Wiley-Liss, Inc.
    Original languageEnglish
    Pages (from-to)3173-3180
    Number of pages7
    JournalAmerican Journal of Medical Genetics, Part A
    Volume146
    Issue number24
    DOIs
    Publication statusPublished - 15 Dec 2008

    Keywords

    • Cytomegalovirus
    • Intracranial calcification
    • Polymicrogyria
    • Pseudo-torch

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