A patient with a MYORG variant in primary brain calcification has rapid clinical course and increased calcification...

Primary brain calcification (PBC), genetically heterogeneous disorder, is characterized by abnormal calcification deposition in various brain regions, including the bilateral basal nuclei. The disease presents with a variety of symptoms, including cognitive impairment, parkinsonism, psychiatric signs or even remains asymptomatic.

We herein present a case of a 39-year-old man with a homozygous rare variant with unknown pathological significance (c.284 T > C, pLeu95Pro) in the major causative gene, MYORG for PBC. He presented to the hospital with mild speech disorder and ataxia. Over the years, dysarthria and ataxia progressed. Brain computed tomography (CT) scans were performed almost annually and evaluated using the total calcification score (TCS). The calcified part of the brain was observed in three-dimensional while rotating, and the total calcification volume was measured using an image analyzer.

The TCSs remained unchanged, however, the image analyzer clearly showed the calcified area in the brain and an increasing calcification volume in the same CT machine and under the same condition.

The evaluation method is very useful for the three-dimensional observation and quantification of calcification.