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Print ISSN: 1792-0981 Online ISSN: 1792-1015
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January-2018 Volume 15 Issue 1

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Case Report

Distinct magnetic resonance imaging features in a patient with novel RARS2 mutations: A case report and review of the literature

  • Authors:
    • Jie Zhang
    • Zhongbin Zhang
    • Yao Zhang
    • Ye Wu
  • View Affiliations / Copyright

    Affiliations: Department of Pediatrics, Peking University First Hospital, Beijing 100034, P.R. China
  • Pages: 1099-1104
    |
    Published online on: November 10, 2017
       https://doi.org/10.3892/etm.2017.5491
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Abstract

Pontocerebellar hypoplasia type 6 (PCH6) is a rare autosomal recessive disease that occurs due to mutations in the mitochondrial arginyl‑tRNA synthetase 2 (RARS2) gene. To the best of our knowledge, 23 cases with relatively complete clinical data have been reported thus far. In the present study, a case with PCH6 caused by novel RARS2 mutations is described, in which distinct magnetic resonance imaging (MRI) features were identified. In addition, 23 PCH6 cases found in the literature were reviewed. Early onset hypotonia (43.48%), epileptic seizures (34.78%), encephalopathy (26.08%) and feeding difficulties (17.39%) were common initial symptoms of PCH6. During disease progression, the patients presented refractory epileptic seizures (94.12%), feeding problems (60.87%), severe developmental delay (100%), microcephaly (88.89%) and hyperlactacidemia (76.47%). The clinical features of the present patient were suggestive of PCH6, with early onset epilepsy, feeding difficulties, severe developmental delay, microcephaly, hearing loss and hyperlactacidemia. According to available MRI data from 20 reported cases with PCH6, the characteristic finding in MRI was pontocerebellar dysplasia or progressive cerebral/pontocerebellar atrophy in 16 cases, while 4 cases did not present pontocerebellar hypoplasia, and no basal ganglia involvement was observed in any of the cases. Distinctive MRI features were also identified in the present case, including pontocerebellar preservation after 1 year of age, as well as a high diffusion‑weighted imaging signal suggesting intracellular edema in the cerebellar hemispheres, basal ganglia, thalamus and corpus callosum. Progressive loss of cerebral white matter and cortical volume were common features shared by all patients. In conclusion, in the present study, two novel heterozygous mutations were identified in RARS2, namely c.1718C>T(p.Thr573Ile) and c.991A>G (p.Ile331Val). Thus, the present case enriched the phenotypic and genotypic spectrum of the RARS2 mutations.
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1 

Glamuzina E, Brown R, Hogarth K, Saunders D, Russell-Eggitt I, Pitt M, de Sousa C, Rahman S, Brown G and Grunewald S: Further delineation of pontocerebellar hypoplasia type due to mutations in the gene encoding mitochondrial arginyl-tRNA synthetase, RARS. J Inherit Metab Dis. 35:459–467. 2012. View Article : Google Scholar : PubMed/NCBI

2 

Edvardson S, Shaag A, Kolesnikova O, Gomori JM, Tarassov I, Einbinder T, Saada A and Elpeleg O: Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia. Am J Hum Genet. 81:857–862. 2007. View Article : Google Scholar : PubMed/NCBI

3 

Rankin J, Brown R, Dobyns WB, Harington J, Patel J, Quinn M and Brown G: Pontocerebellar hypoplasia type: A British case with PEHO-like features. Am J Med Genet A. 152A:2079–2084. 2010. View Article : Google Scholar : PubMed/NCBI

4 

Namavar Y, Barth PG, Kasher PR, van Ruissen F, Brockmann K, Bernert G, Writzl K, Ventura K, Cheng EY, Ferriero DM, et al: Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia. Brain. 134:143–156. 2011. View Article : Google Scholar : PubMed/NCBI

5 

Kastrissianakis K, Anand G, Quaghebeur G, Price S, Prabhakar P, Marinova J, Brown G and McShane T: Subdural effusions and lack of early pontocerebellar hypoplasia in siblings with RARS mutations. Arch Dis Child. 98:1004–1007. 2013. View Article : Google Scholar : PubMed/NCBI

6 

Cassandrini D, Cilio MR, Bianchi M, Doimo M, Balestri M, Tessa A, Rizza T, Sartori G, Meschini MC, Nesti C, et al: Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: Definition of the clinical spectrum and molecular findings in five patients. J Inherit Metab Dis. 36:43–53. 2013. View Article : Google Scholar : PubMed/NCBI

7 

Lax NZ, Alston CL, Schon K, Park SM, Krishnakumar D, He L, Falkous G, Ogilvy-Stuart A, Lees C, King RH, et al: Neuropathologic characterization of pontocerebellar hypoplasia type 6 associated with cardiomyopathy and hydrops fetalis and severe multisystem respiratory chain deficiency due to novel RARS2 mutations. J Neuropathol Exp Neurol. 74:688–703. 2015. View Article : Google Scholar : PubMed/NCBI

8 

Li Z, Schonberg R, Guidugli L, Johnson AK, Arnovitz S, Yang S, Scafidi J, Summar ML, Vezina G, Das S, et al: A novel mutation in the promoter of RARS2 causes pontocerebellar hypoplasia in two siblings. J Hum Genet. 60:363–369. 2015. View Article : Google Scholar : PubMed/NCBI

9 

Nishri D, Goldberg-Stern H, Noyman I, Blumkin L, Kivity S, Saitsu H, Nakashima M, Matsumoto N, Leshinsky-Silver E, Lerman-Sagie T and Lev D: RARS2 mutations cause early onset epileptic encephalopathy without ponto-cerebellar ypoplasia. Eur J Paediatr Neurol. 20:412–417. 2016. View Article : Google Scholar : PubMed/NCBI

10 

Lühl S, Bode H, Schlötzer W, Bartsakoulia M, Horvath R, Abicht A, Stenzel M, Kirschner J and Grünert SC: Novel homozygous RARS mutation in two siblings without pontocerebellar hypoplasia-further expansion of the phenotypic spectrum. Orphanet J Rare Dis.

11 

Ngoh A, Bras J, Guerreiro R, Meyer E, McTague A, Dawson E, Mankad K, Gunny R, Clayton R, Mills PB, et al: RARS2 mutations in a sibship with infantile spasms. Epilepsia. 57:e97–e102. 2016. View Article : Google Scholar : PubMed/NCBI

12 

Li H and Durbin R: Fast and accurate long-read alignment with Burrows-Wheeler transform. Bioinforma. 26:589–595. 2010. View Article : Google Scholar

13 

McKenna A, Hanna M, Banks E, Sivachenko A, Cibulskis K, Kernytsky A, Garimella K, Altshuler D, Gabriel S, Daly M and DePristo MA: The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res. 20:1297–1303. 2010. View Article : Google Scholar : PubMed/NCBI

14 

Wang K, Li M and Hakonarson H: ANNOVAR: Functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res. 38:e1642010. View Article : Google Scholar : PubMed/NCBI

15 

Lek M, Karczewski KJ, Minikel EV, Samocha KE, Banks E, Fennell T, O'Donnell-Luria AH, Ware JS, Hill AJ, Cummings BB, et al: Analysis of protein-coding genetic variation in 60,706 humans. Nature. 536:285–291. 2016. View Article : Google Scholar : PubMed/NCBI

16 

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, et al: Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 17:405–424. 2015. View Article : Google Scholar : PubMed/NCBI

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Copy and paste a formatted citation
Spandidos Publications style
Zhang J, Zhang Z, Zhang Y and Wu Y: Distinct magnetic resonance imaging features in a patient with novel RARS2 mutations: A case report and review of the literature. Exp Ther Med 15: 1099-1104, 2018.
APA
Zhang, J., Zhang, Z., Zhang, Y., & Wu, Y. (2018). Distinct magnetic resonance imaging features in a patient with novel RARS2 mutations: A case report and review of the literature. Experimental and Therapeutic Medicine, 15, 1099-1104. https://doi.org/10.3892/etm.2017.5491
MLA
Zhang, J., Zhang, Z., Zhang, Y., Wu, Y."Distinct magnetic resonance imaging features in a patient with novel RARS2 mutations: A case report and review of the literature". Experimental and Therapeutic Medicine 15.1 (2018): 1099-1104.
Chicago
Zhang, J., Zhang, Z., Zhang, Y., Wu, Y."Distinct magnetic resonance imaging features in a patient with novel RARS2 mutations: A case report and review of the literature". Experimental and Therapeutic Medicine 15, no. 1 (2018): 1099-1104. https://doi.org/10.3892/etm.2017.5491
Copy and paste a formatted citation
x
Spandidos Publications style
Zhang J, Zhang Z, Zhang Y and Wu Y: Distinct magnetic resonance imaging features in a patient with novel RARS2 mutations: A case report and review of the literature. Exp Ther Med 15: 1099-1104, 2018.
APA
Zhang, J., Zhang, Z., Zhang, Y., & Wu, Y. (2018). Distinct magnetic resonance imaging features in a patient with novel RARS2 mutations: A case report and review of the literature. Experimental and Therapeutic Medicine, 15, 1099-1104. https://doi.org/10.3892/etm.2017.5491
MLA
Zhang, J., Zhang, Z., Zhang, Y., Wu, Y."Distinct magnetic resonance imaging features in a patient with novel RARS2 mutations: A case report and review of the literature". Experimental and Therapeutic Medicine 15.1 (2018): 1099-1104.
Chicago
Zhang, J., Zhang, Z., Zhang, Y., Wu, Y."Distinct magnetic resonance imaging features in a patient with novel RARS2 mutations: A case report and review of the literature". Experimental and Therapeutic Medicine 15, no. 1 (2018): 1099-1104. https://doi.org/10.3892/etm.2017.5491
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