[SP6-3D-6] 3 Cases of Vitamin B6-responsive Infantile Spasms with Negative Mutations in 2742 disease-related genes
[Introduction] 10%-30% infantile spasms are Vitamin B6-responsive as reported, esp. high dose Vitamin B6 (VitB6), but the reason is still unclear. [Methodology] we reported 3 cases of Vitamin B6-responsive infantile spasms, and used the method of next generation sequencing (NGS) to screen the mutations in 2742 disease-related genes. [Results] Case1 is a 5 months old girl, and 9kg, suffering infantile spasms. After the second day of treatment with VitB6 100mg bid intravenously, her seizures stopped. Then VitB6 100mg bid intravenously continued for 1 week, and afterwards VitB6 30mg bid P.O for 3months, VitB6 20mg bid P.O for 10months, VitB6 10mg bid P.O for 3months, until the negative findings by NGS in 2742 disease-related genes panel including ALDH7A1, PNPO genes, she was still seizure-free. Case 2 is a 7 months old girl with infantile spasms. VitB6 20mg tid PO stopped her seizures. 2 months later, her EEG became normal, then VitB6 reduced to 5mg/d. 5 months later, she stopped VitB6 with seizure-free. There were no mutations in 2742 disease-related genes panel. Case 3 is a 11 months boy with drug-resistant infantile spasms. He was intended to be hospitalized for ACTH therapy, but he suffered from pneumonia at that time. VitB6 100mg bid intravenously was added to attempt to stop his seizures, and then became true. After the pneumonia and VitB6 turned to PO, his seizures remained free, and gene test was negative. [Conclusions] Although no ALDH7A1, PNPO muataions, some infantile spasms are VitB6-responsive with uncertain gene basis.