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Infantile spasms are a devastating infantile epileptic syndrome with multiple etiologies. Hereditary neurometabolic disorders are rarely recognized causes of infantile spasms. The aim of this study was to identify hereditary neurometabolic disorders when they were the cause of infantile spasms in patients presenting to a tertiary care center in Saudi Arabia.

We conducted a retrospective review of children presenting to the Pediatric Department of King Abdulaziz Medical City in Riyadh, Saudi Arabia over a 15-year interval.

Eighty patients with infantile spasms were identified. A hereditary neurometabolic disorder was diagnosed in 10 patients (12.5%). Of these patients, two had a Leigh-like disorder and one patient had each of the following diagnoses: ethylmalonic aciduria, nonketotic hyperglycinemia, hyperinsulinemic hypoglycemia, leukodystrophy, short-chain acyl-coenzyme A …