Primary familial brain calcification in a patient with a novel compound heterozygous mutation in MYORG presenting with an acute ischemic stroke: a case report

Primary familial brain calcification (PFBC) is known as Fahr's disease (FD) or familial idiopathic basal ganglia calcification (FIBGC). PFBC is a genetically heterogeneous disease characterized by extensive intracranial calcium deposition. Currently, pathogenic variants in six genes (SLC20A2, PDGFB, PDGFRB, XPRI, MYORG and JAM2) have been associated with PFBC. MYORG was the first autosomal-recessive causal gene discovered in PFBC patients. PFBC is also a clinically heterogeneous disorder. Patients mostly present with movement disorders, cognitive impairment and psychiatric symptoms, and acute cerebrovascular attacks are rare. Here, we report the case of a PFBC patient with a novel compound heterozygous mutation in MYORG presenting with an acute ischemic stroke. A 52-year-old man had recurrent and progressively exacerbated transient-ischemic-attack-like episodes and finally had an acute ischemic stroke. Brain computed tomography (CT) showed extensive and symmetric calcifications. Brain magnetic resonance imaging (MRI) revealed an acute ischemic infarction. A novel compound heterozygous mutation in MYORG (p.R116_S117insLAFR and p.Q445*) was found in this patient by whole-exome sequencing (WES). Therefore, this patient was diagnosed with PFBC-MYORG and an acute ischemic stroke. He was treated with antiplatelet drugs (aspirin and clopidogrel) and received rehabilitation training. There was no physical disability at discharge. More efforts should be made to explore the association between acute ischemic strokes and PFBC.

Automated summary

Primary familial brain calcification (PFBC) is a genetically heterogeneous disease characterized by extensive intracranial calcium deposition, with pathogenic variants in six genes associated with the condition. PFBC patients may present with various symptoms, including movement disorders, cognitive impairment, and psychiatric symptoms, with acute cerebrovascular attacks being rare. This case report highlights a PFBC patient with a novel compound heterozygous mutation in MYORG who experienced an acute ischemic stroke, emphasizing the need for further exploration of the association between acute ischemic strokes and PFBC.