Infantile spasms caused by NEXMIF mutation: A case report and literature review

Abstract

Background

Infantile spasms are rare epileptic syndromes associated with neurodevelopment and genes. The NEXMIF gene, identified as KIDLIA, KIAA2022 or Xpn, is a gene of unknown biological identity located on the q13.2 X chromosome.

Case description

We presented a 4-month-old infant with a diagnosis of infantile spasms with NEXMIF mutation. Clinical manifestations include psychomotor retardation, loss of consciousness, and seizures. After oral therapy with vigabatrin, sodium valproate, and levetiracetam, the syndrome was alleviated and no recurrence was observed during one month of follow-up.

Conclusions

A loss-of-function mutation in the NEXMIF gene has been reported. There are few reports on this mutation worldwide. This study provides a new idea for the clinical treatment of infantile spasms.

Keywords:

• Infantile spasms
• neurodevelopmental disorders
• NEXMIF mutation
• X-linked inheritance

Acknowledgements

We thank our patient and her family for their help and involvement in making this work possible.

Author contributions

L.Z conceived the framework of this article and wrote the manuscript draft. C.L collected the data, revised and polished the manuscript. L.L interpreted and analyzed the data. All authors read and approved the final version of the manuscript.

Ethical approval

Informed written consent was issued with the consent of the patient’s parents. This study protocol was reviewed and approved by the Ethics Committee of Meizhou People’s Hospital [MZLS-2020-C-121].

Disclosure statement

No potential conflict of interest was reported by the author(s).

Additional information

Funding

This study was supported by the Scientific Research and Cultivation Project of Meizhou People’s Hospital [Grant No: PY-C2021006].