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Non-ketotic hyperglycaemic hemichorea-hemiballismus (NHHH) is often secondary to middle-aged and elderly diabetic people with poor-controlled diabetes; Fahr’s disease (FD) is another rare neurological disorder characterized by abnormal calcified deposits in the brain that control movement. We described a rare case of NHHH combined with a heterozygous mutation (SLC20A2) resulting in one family with FD. The patient has a 30-day history of involuntary choreic movements of the left limbs and left face. In addition, he had a bit of speech slurred and walked unsteadily. He was diagnosed with type 2 diabetes mellitus two months ago. Over the past two months, he had noticed that urination, appetite, and water volume increased obviously and weight loss drastically. Other problems such as dizziness, headache, difficulty swallowing, nausea, and vomiting did not occur. T1- weighted MRI indicts characteristic contralateral basal ganglia hyper-intensity. During hospitalization, he was injected insulin and oral haloperidol. And the clinical symptoms improved, but parkinsonism symptoms emerge soon after discharge. The parkinsonism symptoms were gradually improved after adjusting medications. Combined with the subsequent genetic test results, we attribute it to NHHH with FD. It is relatively rare that NHHH or FD is both presents. We should use antipsychotics with caution in these patients to avoid parkinsonism symptoms.

Non-ketotic hyperglycaemic hemichorea-hemiballismus with Fahr’s disease in a Chinese family: a case report