Intracranial calcification in childhood: a review of aetiologies and recognizable phenotypes. (30th December 2013)

• Record Type: Journal Article
• Authors: Livingston, John H; Stivaros, Stavros; Warren, Dan; Crow, Yanick J
• Is Part Of: Developmental medicine & child neurology. Volume 56:Number 7(2014:Jul.)
• Page Start: 612
• Page End: 626
• Publication Date: 2013-12-30
• Subjects: Child development -- Periodicals; Pediatric neurology -- Periodicals; 616.8
• DOI: 10.1111/dmcn.12359
• Languages: English
• ISSNs: 0012-1622

Abstract

<abstract abstract-type="main" id="dmcn12359-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p>Intracranial calcification (ICC) is a common finding on neuroimaging in paediatric neurology practice. In approximately half of all cases the calcification occurs in damaged, neoplastic, or malformed brain. For the large number of other disorders in which ICC occurs, no common pathogenetic mechanism can be suggested. Congenital infection, particularly with cytomegalovirus, accounts for a significant proportion of all cases. However, some genetic diseases, in particular Aicardi–Goutières syndrome, Band‐like calcification, and <italic>RNASET2</italic>‐related disease, may mimic congenital infection; therefore, a full consideration of the radiological and clinical features is necessary before concluding that congenital infection is the cause. In some disorders calcification is a universal finding, in others it is a frequent occurrence, and in some it is only an occasional finding. Characteristic patterns of calcification are seen in a number of conditions, and a systematic approach to the identification and description of radiological findings, taken together in the context of the clinical scenario, allows a diagnosis to be made in many cases. Nonetheless, there remain a number of presumed genetic disorders associated with ICC for which the underlying molecular cause has not yet been identified.</p> </abstract>