Published online Aug 26, 2021. doi: 10.12998/wjcc.v9.i24.7169
Peer-review started: January 11, 2021
First decision: April 25, 2021
Revised: May 1, 2021
Accepted: July 5, 2021
Article in press: July 5, 2021
Published online: August 26, 2021
Processing time: 224 Days and 17.9 Hours
Idiopathic basal ganglia calcification (IBGC) is a neurodegenerative disease characterized by symmetrical calcification of basal ganglia and other brain region, also known as Fahr’s disease. It can be sporadic or familial, and there is no definite etiology at present. With the development of neuroimaging, the number of reports of IBGC has increased in recent years. However, due to its hidden onset, diverse clinical manifestations, and low incidence, it is likely to be misdiagnosed or ignored by potential patients and their family.
We report a case of a 61-year-old man who presented with symptoms of dysphagia and alalia. His computed tomography scan of the brain revealed bilateral symmetric calcifications of basal ganglia, cerebellum, thalamus, and periventricular area. The genetic test showed a new mutation sites of MYORG, c.1438T>G mutation and c.1271_1272 TGGTGCGC insertion mutation. He was finally diagnosed with IBGC.
It is important to detect MYORG mutation when IBGC is suspected, especially in those without an obvious family history, for better understanding of the underlying mechanism and identifying potential treatments.
Core Tip: Idiopathic basal ganglia calcification (IBGC) is characterized by calcification of basal ganglia and other regions of the brain. IBGC is clinically heterogeneous and usually exhibits an autosomal dominant pattern of inheritance. We report a case of a 61-year-old man who presented with symptoms of dysphagia and alalia. His computed tomography scan of the brain revealed bilateral symmetric calcifications of basal ganglia, cerebellum, thalamus, and periventricular area. The genetic test showed a new mutation site of MYORG.