Journal of Pediatric Epilepsy 2021; 10(03): 117-120
DOI: 10.1055/s-0040-1721509
Case Report

Leigh Syndrome—TUFM Gene Mutation as a New Probable Genetic Marker: A Case Report

Nikhil Jain
1   Department of Paediatrics, Shyam Shah Medical College, Rewa, Madhya Pradesh, India
,
Harshit Bhargava
1   Department of Paediatrics, Shyam Shah Medical College, Rewa, Madhya Pradesh, India
,
Deepak Dwivedi
1   Department of Paediatrics, Shyam Shah Medical College, Rewa, Madhya Pradesh, India
› Author Affiliations

Abstract

Leigh's syndrome is a rare neurodegenerative disorder which is of autosomal recessive or mitochondrial inheritance. Global incidence is 1 in 40,000 although very few cases have been reported from India. Respiratory failure is the main cause of death in these children. An 8-year-old female presented to pediatric intensive care unit with chief complaints of seizure (generalized tonic-clonic seizure type), generalized weakness, and swelling, which on MRI and genetic study was diagnosed as Leigh syndrome or Leigh like syndrome. Genetic study revealed a new TUFM gene mutation. Patient improved over the time, oxygen was weaned gradually, and nasogastric tube feeding started, and patient shifted to ward, and discharged on oral antiepileptic therapy. A genetic counseling, early diagnosis, better understanding of disease can result in good seizure control and improved quality of life of these patients. TUFM gene mutation must be considered as a new probable genetic marker.

Authors' Contributions

H.B. and N.J. conceived and planned the study and supervised the conduct of the study along with preparation of the manuscript. All authors approved the final manuscript for publication.




Publication History

Received: 12 July 2020

Accepted: 03 November 2020

Article published online:
23 December 2020

© 2020. Thieme. All rights reserved.

Georg Thieme Verlag KG
Rüdigerstraße 14, 70469 Stuttgart, Germany

 
  • References

  • 1 Shrikhande DY, Kalakoti P, Syed MM, Ahya K, Singh G. A rare mitochondrial disorder: Leigh syndrome—a case report. Ital J Pediatr 2010; 36 (01) 62
  • 2 Lopes T, Coelho M, Bordalo D. et al. Leigh syndrome: a case report with a mitochondrial DNA mutation. Rev Paul Pediatr 2018; 36 (04) 519-523
  • 3 Udiya A, Singhal S. A typical case of Leigh’s disease: case report. Eurorad 2015; 13090 . Available at: https://www.eurorad.org/case/13090. Accessed October 17, 2019
  • 4 Nelson textbook of Pediatrics, 21 ed. International edition: Michael V. Johnston; 2019: 3176-3178
  • 5 Dinesh P, Raj MM, Gita S. Leigh syndrome: an unusual rare case report. Int J Sci Stud 2014; 2 (02) 93-96
  • 6 Rahman S, Blok RB, Dahl HH. et al. Leigh syndrome: clinical features and biochemical and DNA abnormalities. Ann Neurol 1996; 39 (03) 343-351
  • 7 Chen L, Cui Y, Jiang D. et al. Management of Leigh syndrome: current status and new insights. Clin Genet 2018; 93 (06) 1131-1140
  • 8 Ling M, Merante F, Chen HS, Duff C, Duncan AM, Robinson BH. The human mitochondrial elongation factor Tu (EF-Tu) gene: cDNA sequence, genomic localization, genomic structure, and identification of a pseudogene. Gene 1997; 197 (1-2): 325-336