Brain calcifications

Carried by: BRAINTEAM

References:

Clinician(s): Gaël NICOLAS

Biologist(s): Gaël NICOLAS

Presentation

This preindication aims to unify a significant number of rare diseases that include cerebral calcifications as a phenotypic gateway, providing a critical element for interpreting sequencing data. The clinical presentation can be heterogeneous, and widespread access to brain imaging makes it possible to identify a clinical-radiological entity that will facilitate interpretation.

Criteria before considering a discussion in MDM-FMG

Patients presenting neurological and/or psychiatric symptoms related to:

Cerebral calcifications affecting at least the basal ganglia,
- of greater extent and severity than would be expected for their age (if necessary: TCS visual scan scale and normative data: Nicolas et al., Brain 2013),
- and in the absence of calcium-phosphorus metabolism disorders (at least: PTH, blood vitamin D, calcium, phosphorus)
OR calcifications of the white matter and/or cerebral cortex in the absence of calcifications of the basal ganglia
OR pontocerebellar calcifications in the absence of calcifications of the basal ganglia
Excluding clinically severe paediatric forms (current age < 5 years)