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

BACKGROUND

Infantile spasms are rare epileptic syndromes associated with neurodevelopment and genes. The gene, identified as , or , 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 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 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.