الفهرس Only 14 pages are availabe for public view
 |  | from | 101 |  |  |
| | | from | 101 | | |
Abstract
Background: Intractable convulsions are a medical emergency with significant associated morbidity and mortality among pediatric patients. Approximately 20% of pediatric patients with epilepsy are refractory to medical therapies. There are major causes of intractable convulsions in children including structural, metabolic, inflammatory, infection and genetic including molybdenum cofactor deficiency (MoCD). MoCD is an autosomal recessive metabolic disorder. It is characterized by intractable seizures and neurological deterioration due to combined deficiency of sulfite oxidase and xanthine dehydrogenase. Methods: The present study included 250 patients aged 1 day to 4 years old with intractable convulsions admitted to the Pediatric Neurology clinics, Cairo university children hospital, CUCH. Sulphite dipstick was used as screening test for MoCD. Confirmation of positive cases was done using liquid chromatography-electrospray tandem mass spectrometry (LC- MS/MS). Results: Sixteen cases out of two hundred and fifty patients (6.4%) were positive for sulphite dipsticks. However, LC/MS/MS results showed that all 16 samples were negative for S-Sulphocysteine (SSC) and Xanthine (XAN). Conclusion: Sulphite dipsticks test is not a proper screening tool and proper specific testing of SSC is necessary to identify that disease