Anuar, Muhamad Azamin and Syed Ahmad Shihabuddin Abdurrahman Alsagoff, Sharifah Aishah and Mohamed, Ahmad Rithauddin and Murugesu, Sumitha (2022) Epilepsy of infancy with migrating focal seizures in a patient with nonketotic hyperglycinemia. Annals of Child Neurology, 31 (2). pp. 144-147. ISSN 2635-909X E-ISSN 2635-9103
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Abstract
Nonketotic hyperglycinemia (NKH) is an inborn error of glycine metabolism leading to refractory epilepsy and severe developmental delays. It is caused by autosomal recessive inheritance of a defect in the glycine cleavage system in the mitochondrial enzymatic complex pathway [1]. This defect leads to overstimulation of the N-methyl-D-aspartate receptor and neurological damage due to glycine accumulation in all body compartments. The typical presentation of NKH is progressive encephalopathy, apnea, and seizures during the neonatal period [2]. Those who survive the neonatal period progress into refractory seizures with moderate to severe cognitive impairment. Apart from antiseizure medications, sodium benzoate, dextromethorphan, and a ketogenic diet, no known therapy is effective in treating this condition [3]. Electroencephalography (EEG) is used to assess brain and seizure activity in NKH. The usual patterns seen are burst-suppression, hypsarrhythmia, and multifocal epileptiform activity [4,5]. Epilepsy of infancy with migrating focal seizures (EIMFS) in NKH has never been described in the literature. We report a case of a severe form of NKH presenting during the neonatal period that showed a burst-suppression EEG pattern and evolved into EIMFS
| Item Type: | Article (Letter) |
|---|---|
| Uncontrolled Keywords: | Nonketotic hyperglycinemia Epilepsy of infancy with migrating focal seizures |
| Subjects: | R Medicine > RJ Pediatrics R Medicine > RJ Pediatrics > RJ370 Disease of children R Medicine > RJ Pediatrics > RJ58 Clinical cases |
| Kulliyyahs/Centres/Divisions/Institutes (Can select more than one option. Press CONTROL button): | Kulliyyah of Medicine > Department of Paediatrics |
| Depositing User: | Dr Muhamad Azamin Anuar |
| Date Deposited: | 06 Apr 2023 09:15 |
| Last Modified: | 06 Apr 2023 09:47 |
| URI: | http://irep.iium.edu.my/id/eprint/104286 |
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