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

Am J Med Genet A. 2008 Dec 15;146A(24):3173-80. doi: 10.1002/ajmg.a.32614.

T A Briggs ¹, 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

Affiliations

Affiliation

1 Department of Clinical Genetics, St James's University Hospital, Leeds, UK.

PMID: 19012351 DOI: 10.1002/ajmg.a.32614

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.

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