Case Report.

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.

• Authors: Anita Datta, Alex Ferguson, Chris Simonson, Francesca Zannotto, Aspasia Michoulas, Elke Roland, Clara van Karnebeek, Ramona Salvarinova
• Journal: Journal of child neurology (J Child Neurol) Vol. 32 Issue 4 Pg. 403-407 (03 2017) ISSN: 1708-8283 [Electronic] United States
• PMID: 28056632 (Publication Type: Case Reports, Journal Article)

Chemical References

• Amino Acyl-tRNA Synthetases
• glutaminyl-tRNA synthetase

Topics

• Amino Acyl-tRNA Synthetases (deficiency)
• Brain (physiopathology)
• Child
• Diet, Ketogenic
• Drug Resistant Epilepsy (diet therapy, enzymology, psychology)
• Electroencephalography
• Humans
• Male
• Seizures (diet therapy, enzymology, psychology)
• Treatment Outcome