Datta Anita, Ferguson Alex, Simonson Chris, Zannotto Francesca, Michoulas Aspasia, Roland Elke, Karnebeek Clara van, Salvarinova Ramona
1 Division of Neurology, Department of Pediatrics, BC Children's Hospital, University of British Columbia, Vancouver, BC, Canada.
2 Division of Biochemical Diseases, Department of Pediatrics, BC Children's Hospital, Vancouver, BC, Canada.
J Child Neurol. 2017 Mar;32(4):403-407. doi: 10.1177/0883073816685508. Epub 2017 Jan 6.
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.
谷氨酰胺-tRNA合成酶（QARS）缺乏症已被描述为一种神经退行性疾病的病因，该疾病与严重发育迟缓、小头畸形、髓鞘形成延迟和难治性癫痫有关。据认为，这种癫痫比其他tRNA合成酶疾病更严重。文献中仅报道了少数病例，关于不同治疗方案的反应信息很少。生酮饮食是一种高脂肪、低碳水化合物的饮食，用于治疗各种病因的难治性癫痫。有报道称，这种饮食还可以改善神经认知参数。作者报告了一例谷氨酰胺-tRNA合成酶缺乏症且癫痫发作难治的患者，该患者在癫痫发作、警觉性和行为方面对生酮饮食有显著且早期的良好反应。
