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

Abstract

Introduction

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.

Case presentation

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.

Conclusion

It is relatively rare that NHHH or FD is both presents. We should use antipsychotics with caution in these patients to avoid parkinsonism symptoms.

Keywords:

• Non-ketotic hyperglycaemic hemichorea-hemiballismus
• Fahr’s disease
• hemichorea

Acknowledgements

Z S-H, P J-J, L K-F, P J-C, and LJ treated the patient. L K-F was responsible for the acquisition and interpretation of neuroradiologic imaging. P J-J and P J-C were responsible for histological examinations and analyses. Z S-H and LJ wrote the manuscript. LJ revised the manuscript. All authors were involved in the analysis and interpretation of findings, they proved the manuscript, contributed to important intellectual content, and contributed to writing and approved the final manuscript.

Declarations

Ethics approval and consent

This study was conducted in accordance with the principles of the Declaration of Helsinki.

Consent for publication

The patient gave written informed consent for all treatments and the publication of this case report.

Availability of data and material

The original contributions presented in the study are included in the article, further inquiries can be directed to the corresponding author.

Disclosure statement

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

Additional information

Funding

National Key R&D Program of China (grant number: 2018YFC1312001), Anhui University Science Research Project (grant numbers:KJ2021A058), Clinical research project of Anhui University of traditional Chinese Medicine (grant numbers: 2021yfylc06), and the Outstanding Young Talents Project of Universities in Anhui Province Study Abroad (grant number: gxgwfx2021028).