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Journal of Pediatric Neurology 2023; 21(05): 377-383
DOI: 10.1055/s-0042-1751248
Case Report

A Novel Variant of the Short-Chain Enoyl-CoA Hydratase-1 Gene Presenting with a Mild Phenotype: The Second Case Report from India

Suman Das 
1   Department of Neuromedicine, Bangur Institute of Neurology, Kolkata, West Bengal, India
,
Biman K. Ray
1   Department of Neuromedicine, Bangur Institute of Neurology, Kolkata, West Bengal, India
,
Uddalak Chakraborty
1   Department of Neuromedicine, Bangur Institute of Neurology, Kolkata, West Bengal, India
,
Sujoy Kabiraj
1   Department of Neuromedicine, Bangur Institute of Neurology, Kolkata, West Bengal, India
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Abstract

A 9-year-old girl presented with asymmetric abnormal twisting movements affecting her left side more than the right side, initially action induced, but later persistent. Examination revealed generalized persistent dystonia with choreoathetosis and right partial tonic ocular tilt reaction. Brain magnetic resonance imaging showed T1 and T2 fluid-attenuated inversion recovery (FLAIR) hypointense and T2 hyperintense signal changes in bilateral globus pallidi. Clinical exome sequencing revealed compound heterozygous variatnts in enoyl-CoA hydratase-1 (ECHS1) gene: a novel pathogenic variant in exon 6, chr10:g.133366045G > A (p.Gln224Ter) and a likely pathogenic variant in exon 5, chr10:g.133366990G > A (p.Ala173Val). Metabolic testing and arterial lactate levels were normal. She was treated with valine restricted diet, trihexiphenidyl, clonazepam, N-acetyl cysteine and mitochondrial cocktail, without significant improvement over the 6 months follow-up period.

Keywords

short-chain enoyl-CoA hydratase - valine - choreoathetosis - globus pallidi


Publikationsverlauf

Eingereicht: 12. März 2022

Angenommen: 21. Mai 2022

Artikel online veröffentlicht:
02. August 2022

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  • References

  • 1 Peters H, Buck N, Wanders R. et al. ECHS1 mutations in Leigh disease: a new inborn error of metabolism affecting valine metabolism. Brain 2014; 137 (pt. 11): 2903-2908
    CrossrefPubMedGoogle Scholar
  • 2 Sun D, Liu Z, Liu Y. et al. Novel ECHS1 mutations in Leigh syndrome identified by whole-exome sequencing in five Chinese families: case report. BMC Med Genet 2020; 21 (01) 149
    CrossrefPubMedGoogle Scholar
  • 3 Senthilkumar V, Sivaraj K. Paroxysmal exercise-induced dyskinesia in siblings due to ECHS1 gene mutation - first Indian case report. Ann Indian Acad Neurol 2020; 23 (06) 837-838
    CrossrefPubMedGoogle Scholar
  • 4 Muntean C, Tripon F, Bogliș A, Bănescu C. Pathogenic biallelic mutations in ECHS1 in a case with short-chain enoyl-CoA hydratase (SCEH) deficiency-case report and literature review. Int J Environ Res Public Health 2022; 19 (04) 2088
    CrossrefPubMedGoogle Scholar
  • 5 Sharpe AJ, McKenzie M. Mitochondrial fatty acid oxidation disorders associated with short-chain enoyl-CoAhydratase (ECHS1) deficiency. Cells 2018; 7 (06) 46
    CrossrefPubMedGoogle Scholar
  • 6 Ferdinandusse S, Friederich MW, Burlina A. et al. Clinical and biochemical characterization of four patients with mutations in ECHS1. Orphanet J Rare Dis 2015; 10 (01) 79
    CrossrefPubMedGoogle Scholar
  • 7 Fitzsimons PE, Alston CL, Bonnen PE. et al. Clinical, biochemical, and genetic features of four patients with short-chain enoyl-CoA hydratase (ECHS1) deficiency. Am J Med Genet A 2018; 176 (05) 1115-1127
    CrossrefPubMedGoogle Scholar
  • 8 Marti-Sanchez L, Baide-Mairena H, Marcé-Grau A. et al. Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene. J Inherit Metab Dis 2021; 44 (02) 401-414
    CrossrefPubMedGoogle Scholar
  • 9 Olgiati S, Skorvanek M, Quadri M. et al. Paroxysmal exercise-induced dystonia within the phenotypic spectrum of ECHS1 deficiency. Mov Disord 2016; 31 (07) 1041-1048
    CrossrefPubMedGoogle Scholar
  • 10 Albanese A, Bhatia K, Bressman SB. et al. Phenomenology and classification of dystonia: a consensus update. Mov Disord 2013; 28 (07) 863-873
    CrossrefPubMedGoogle Scholar
  • 11 Ganetzky R, Stojinski C. Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency. In: Adam MP, Ardinger HH, Pagon RA. et al, eds. GeneReviews [Internet]. Seattle, WA: University of Washington, Seattle; 1993-2022
    Google Scholar
  • 12 Illsinger S, Korenke GC, Boesch S. et al. Paroxysmal and non-paroxysmal dystonia in 3 patients with biallelic ECHS1 variants: expanding the neurological spectrum and therapeutic approaches. Eur J Med Genet 2020; 63 (11) 104046
    CrossrefPubMedGoogle Scholar
  • 13 Mahajan A, Constantinou J, Sidiropoulos C. ECHS1 deficiency-associated paroxysmal exercise-induced dyskinesias: case presentation and initial benefit of intervention. J Neurol 2017; 264 (01) 185-187
    CrossrefPubMedGoogle Scholar
  • 14 Korenke G. et al. Paroxysmal dyskinesia in ECHS1 defect with globus pallidus lesions. Neuropediatrics 2016; 47 DOI: 10.1055/s-0036-1583605.
    Artikel in Thieme ConnectPubMedGoogle Scholar
  • 15 Tetreault M, Fahiminiya S, Antonicka H. et al; Care4Rare Canada Consortium. Whole-exome sequencing identifies novel ECHS1 mutations in Leigh syndrome. Hum Genet 2015; 134 (09) 981-991
    CrossrefPubMedGoogle Scholar
  • 16 Wang H-P, Wong LC, Hsu CJ, Hu SC, Chu YJ, Lee WT. Eye motor manifestations in children with neurometabolic disorders. J Formos Med Assoc 2022; 121 (04) 736-748
    CrossrefPubMedGoogle Scholar
  • 17 Baertling F, Rodenburg RJ, Schaper J. et al. A guide to diagnosis and treatment of Leigh syndrome. J Neurol Neurosurg Psychiatry 2014; 85 (03) 257-265
    CrossrefPubMedGoogle Scholar
  • 18 Abdenur JE, Sowa M, Simon M. et al. Medical nutrition therapy in patients with HIBCH and ECHS1 defects: clinical and biochemical response to low valine diet. Mol Genet Metab Rep 2020; 24: 100617
    CrossrefPubMedGoogle Scholar
  • 19 Sato-Shirai I, Ogawa E, Arisaka A. et al. Valine-restricted diet for patients with ECHS1 deficiency: divergent clinical outcomes in two Japanese siblings. Brain Dev 2021; 43 (02) 308-313
    CrossrefPubMedGoogle Scholar
  • 20 Yang H, Yu D. Clinical, biochemical and metabolic characterization of patients with short-chain enoyl-CoA hydratase(ECHS1) deficiency: two case reports and the review of the literature. BMC Pediatr 2020; 20 (01) 50
    CrossrefPubMedGoogle Scholar