Abstract
Idiopathic basal ganglia calcification (IBGC), also known as Fahr’s disease or primary familial brain calcification, manifests as bilaterally symmetric calcifications in the brain. Clinical symptoms range from movement disorders to cognitive impairment and psychiatric symptoms. Since 2012, IBGC has been reported as an inherited disorder with several causative genes, including SLC20A2; however, the genotype-phenotype association remains unclear. Furthermore, longitudinal follow-up studies investigating the prognosis of neuropsychiatric symptoms in IBGC are lacking.A 36-year-old woman who experienced recurrent psychosis since the age of 30 years was admitted to our hospital. Her symptoms included delusions, hallucinations, disorganized speech, and grossly disorganized behavior. Cranial CT revealed calcification of the bilateral basal ganglia and dentate nucleus. The possibility of metabolic or endocrinological disorders causing secondary calcification was excluded via laboratory examinations. The genetic analysis revealed SLC20A2 mutation, and therefore, she was diagnosed with definite IBGC. At the age of 37, 42, and 43 years, similar psychosis recurred due to a decrease in medication. Each episode was relieved within one week with a low dose of risperidone (1.5-2 mg/day p.o.). Eventually, remission was maintained with risperidone (1.5 mg/day).To our knowledge, genetically confirmed case of IBGC with psychosis has been rarely reported. Recurrent psychosis can be the sole symptom of SLC20A2-associated IBGC and may be remitted with a low dose of risperidone. Literature review including eight case reports shows no superiority between medications. Although our case indicates that a low dose of antipsychotics can alleviate symptoms without any side effects and should be continued to prevent relapse in some patients with IBGC, there has been still shortage of the clinical evidence. Further longitudinal studies on genotype-phenotype associations may expedite personalized medicine for patients with IBGC.
Highlights
Idiopathic basal ganglia calcification (IBGC), known as Fahr’s disease or primary familial brain calcification, causes bilaterally symmetric calcifications in the brain, including the basal ganglia, dentate nucleus of cerebellum, thalamus, cerebral cortical gyrus, and deep cerebral white matter
Recurrent psychosis can be the sole symptom of SLC20A2-associated IBGC and may be remitted with a low dose of risperidone
Literature review including eight case reports shows no superiority between medications
Summary
Idiopathic basal ganglia calcification (IBGC), known as Fahr’s disease or primary familial brain calcification, causes bilaterally symmetric calcifications in the brain, including the basal ganglia, dentate nucleus of cerebellum, thalamus, cerebral cortical gyrus, and deep cerebral white matter. We report a case of SLC20A2-associated IBGC with recurrent psychosis as the sole symptom in the 10year observation period, which was treated with a low dose of risperidone. Her mother had noticed the patient's transient bizarre behavior since she was 30 years old, including attempts to grasp empty space claiming, “I can collect the holy spirit.”. At the age of 42, her risperidone dose was decreased from 1 mg/day to 0.5 mg/day at her own discretion After one month, she was involuntarily hospitalized due to disorganized behaviors such as suddenly taking off her mother’s dress; her symptoms improved within two days after increasing risperidone (1 mg/day), and she was discharged after two weeks. Basal ganglia at the age of 37 years (A), 43 years (B), and 47 years (C); cerebellar dentate nuclei at the age of 37 years (D), 43 years (E), and 47 years (F)
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