Background purpose: To demonstrate a novel compound heterozygous mutation in MYORG-related recessive primary familial brain calcification.
Case report: We report a case of primary familial brain calcification with newly-discovered compound heterozygous mutation in the MYORG gene presenting with progressive parkinsonism, cerebellar signs, and typical diffuse brain calcifications.
Conclusion: Clinicians should consider MYORG testing in patients who have primary brain calcifications with either a negative or recessive family history.
Keywords: MYORG autosomal recessive.; primary familial brain calcification.