Case Report: QARS Deficiency and Favorable Outcome Following Treatment of Seizures With Ketogenic Diet. (March 2017)

• Record Type: Journal Article
• Authors: Datta, Anita; Ferguson, Alex; Simonson, Chris; Zannotto, Francesca; Michoulas, Aspasia; Roland, Elke; Karnebeek, Clara van; Salvarinova, Ramona
• Is Part Of: Journal of child neurology. Volume 32:Number 4(2017:Apr.)
• Page Start: 403
• Page End: 407
• Publication Date: 2017-03
• Subjects: epilepsy -- ketogenic diet -- next-generation sequencing -- refractory -- antiseizure drugs; Nervous system -- Diseases -- Periodicals; 618.928
• DOI: 10.1177/0883073816685508
• Languages: English
• ISSNs: 0883-0738

Abstract

Glutaminyl-tRNA synthetase (QARS) deficiency has been described to be a cause of a neurodegenerative disorder associated with severe developmental delay, microcephaly, delayed myelination, and intractable epilepsy. The epilepsy is thought to be more severe than other tRNA synthetase disorders. Only a few cases have been reported in the literature and there is little information about response to different treatment options. The ketogenic diet is a high-fat, low-carbohydrate diet that is used in treatment resistant epilepsy of various etiologies. There are reports that the diet can also improve neuro-cognitive parameters. The authors report a case of a patient with glutaminyl-tRNA synthetase deficiency and treatment resistant seizures where there was a marked and early favorable response in terms of seizures, alertness and behavior to the ketogenic diet.