More than meets the eye: Searching for additional findings in primary brain calcification

Highlights • Primary familial brain calcification (PFBC) has diverse presentations • Impairment beyond the brain has been described in PFBC patients • Findings emphasized here include elevated CSF-Pi and white matter hyperintensities • Such alternative medical findings appear as potential biomarkers for PFBC diagnosis • Combined, study findings reinforce the necessity of further systemic studies on PFBC