Recognizable phenotypes associated with intracranial calcification
Article first published online: 1 NOV 2012
© The Authors. Developmental Medicine & Child Neurology © 2012 Mac Keith Press
Developmental Medicine & Child Neurology
Volume 55, Issue 1, pages 46–57, January 2013
How to Cite
LIVINGSTON, J. H., STIVAROS, S., VAN DER KNAAP, M. S. and CROW, Y. J. (2013), Recognizable phenotypes associated with intracranial calcification. Developmental Medicine & Child Neurology, 55: 46–57. doi: 10.1111/j.1469-8749.2012.04437.x
- Issue published online: 13 DEC 2012
- Article first published online: 1 NOV 2012
- PUBLICATION DATA Accepted for publication 16th July 2012. Published online 00th Month 2012.
Aim In this observational study, we adopted a systematic approach to the radiological phenotyping of disorders associated with intracranial calcification, with the aim of determining if characteristic patterns could be defined as an aid to the future diagnosis of known conditions and the identification of new disorders.
Method A cranial imaging-based scoring system was devised using both computed tomography and magnetic resonance imaging data. Patients were grouped into diagnostic categories where a definitive molecular diagnosis was known, or where the clinical and radiological features suggested a specific diagnosis. For patients in whom the diagnosis was unknown, subgroups were defined according to shared radiological features.
Results Data on 244 scans from 119 patients were analysed. A specific diagnosis was available for 59 patients (31males, 28 females; median age 50mo, range 1wk to 54y). These were as follows (number of patients in brackets): Aicardi–Goutières syndrome (33), cerebroretinal microangiopathy with calcification and cysts (10), band-like calcification with simplified gyration and polymicrogyria (6), COL4A1-related disease (3), Degos disease (2), Krabbe disease (2), Alexander disease (1), mitochondrial disease (1), and tetrasomy 15 (1). In 60 patients the aetiology was unknown. Within this group, subsets demonstrating shared characteristics suggestive of a specific calcification phenotype could be identified.
Interpretation This study confirms the value of a systematic approach to radiological phenotyping of disorders associated with intracranial calcification.