Premium
Intracranial calcification in childhood: a review of aetiologies and recognizable phenotypes
Author(s) -
Livingston John H,
Stivaros Stavros,
Warren Dan,
Crow Yanick J
Publication year - 2014
Publication title -
developmental medicine and child neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.658
H-Index - 143
eISSN - 1469-8749
pISSN - 0012-1622
DOI - 10.1111/dmcn.12359
Subject(s) - calcification , context (archaeology) , medicine , neuroimaging , radiological weapon , pathology , pediatrics , disease , bioinformatics , radiology , biology , psychiatry , paleontology
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 RNASET 2 ‐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.