Recognizable phenotypes associated with intracranial calcification

• DOI: 10.1111/j.1469-8749.2012.04437.x
• Publication Date: 2012-11-01T12:53:05Z
• Authors: JOHN H LIVINGSTON; STAVROS STIVAROS; MARJO S VAN DER K...; YANICK J CROW
• Keywords: Etiology

Aim In this observational study, we adopted a systematic approach to the radiological phenotyping of disorders associated with intracranial calcification, aim determining if characteristic patterns could be defined as an aid future diagnosis known conditions and identification new disorders. Method A cranial imaging‐based scoring system was devised using both computed tomography magnetic resonance imaging data. Patients were grouped into diagnostic categories where definitive molecular known, or clinical features suggested specific diagnosis. For patients in whom unknown, subgroups according shared features. Results Data on 244 scans from 119 analysed. available for 59 (31males, 28 females; median age 50mo, range 1wk 54y). These follows (number brackets): Aicardi–Goutières syndrome (33), cerebroretinal microangiopathy calcification cysts (10), band‐like simplified gyration polymicrogyria (6), COL4A1 ‐related disease (3), Degos (2), Krabbe Alexander (1), mitochondrial tetrasomy 15 (1). 60 aetiology unknown. Within group, subsets demonstrating characteristics suggestive phenotype identified. Interpretation This study confirms value calcification.