Neurometabolic Disorders-Related Early Childhood Epilepsy: A Single-Center Experience in Saudi Arabia

• Main Authors: Sarar Mohamed (Author), Ebtessam M. El Melegy (Author), Iman Talaat (Author), Amany Hosny (Author), Khaled K. Abu-Amero (Author)
• Format: Book
• Published: Elsevier, 2015-12-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.
• Notes: 1875-9572; 10.1016/j.pedneo.2015.02.004
• Keywords: child; epilepsy; metabolic; Saudi Arabia; Pediatrics; RJ1-570
• Source: Pediatrics and Neonatology, Vol 56, Iss 6, Pp 393-401 (2015)

Data on the pattern of epilepsy caused by metabolic disorders in the first 2 years of life are limited in developing countries. We aimed to identify the metabolic causes of epilepsy presented in the first 2 years of life and to describe their clinical, radiological, molecular, and electroencephalographic characteristics. Methods: This retrospective study was conducted between January 2010 and December 2011 at Saad Specialist Hospital (Al Khobar, Saudi Arabia). All patients younger than 2 years at the onset of epilepsy caused by metabolic disorders were reviewed. The International League Against Epilepsy definition was used, and febrile convulsion was excluded. Results: Of 221 children diagnosed with epilepsy in the first 2 years of life at our hospital, 24 had metabolic diseases. The characteristics of these 24 children included the following: consanguinity in 18 patients (75%), developmental delay in 13 (54%), generalized tonic-clonic seizures in 10 (42%), infantile spasms in four (17%), myoclonic in seven (29%), and focal seizures in three. The diagnosis was confirmed by DNA studies in 17 patients (71%) and enzyme assay in seven (29%). The main diagnoses were peroxisomal disorders (n = 3), nonketotic hyperglycinemia (n = 3), Menkes disease (n = 2), neuronal ceroid lipofuscinosis (n = 2), biotinidase deficiency (n = 2), and mitochondrial disorder (n = 2). The remaining patients had lysosomal storage disease, aminoacidopathy, fatty acid oxidation defects, and organic aciduria. Seizure freedom was achieved in one third of patients in this cohort. Conclusion: Different metabolic disorders were identified in this cohort, which caused different types of epilepsy, especially myoclonic seizures and infantile spasms.