Abstract
BACKGROUND: 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. METHODOLOGY: 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. RESULTS: 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 dehydrogenase deficiency, molybdenum cofactor deficiency, primary carnitine deficiency, and neonatal hypoglycemia due to panhypopituitarism. This article is the first to report the association of the last three conditions with infantile spasms. Compared with the other etiologies, the hereditary neurometabolic disorder group had a strong history of similar disease in the same family (P = 0.002), and most of the patients were born of consanguineous parents (P = 0.021). In addition, a typical hypsarrhythmia pattern was more common in the hereditary neurometabolic disorder group (P = 0.003). Furthermore, this group had a poor response to therapy (P = 0.04). Otherwise, there were no significant differences regarding the type of spasms, neuroimaging or outcome; however, there was a trend toward poorer outcomes and death in the hereditary neurometabolic disorder group. CONCLUSION: Hereditary neurometabolic disorders are relatively common causes of infantile spasms in this subpopulation of Saudi patients. An early diagnosis via proper metabolic and genetic testing has significant implications for applying specific treatments and for facilitating proper family counseling.