Intrathecal nusinersen treatment in a Chinese patient with spinal muscular atrophy type 3 after ventriculo-peritoneal shunt placement: A case report and review of literature

Abstract

Background

There is a risk of secondary communicating hydrocephalus in patients with 5q spinal muscular atrophy (SMA) treated with intrathecal nusinersen. The benefits and risks of intrathecal nusinersen treatment in SMA type 3 patients with ventriculoperitoneal shunt (VPS) due to hydrocephalus are unknown.

Case report

A female patient was diagnosed with hydrocephalus at 6 months owing to a progressive increase in head circumference and underwent VPS treatment at 7 months. Motor function development was delayed, and she was diagnosed with SMA type 3 at 41 months. Intrathecal nusinersen treatment was initiated when the patient was 51 months old. The results of the motor function rating scales showed significant improvement after 28 months of follow-up, and a CT scan of the head showed relief of the hydrocephalus. Serious adverse reactions were not observed.

Conclusion

Intrathecal nusinersen treatment is effective and safe after VPS surgery in SMA type 3 patients. Hydrocephalus is not a contraindication for intrathecal nusinersen treatment in SMA patients.