Volume 31, Issue 149 (November & December 2023)                   J Adv Med Biomed Res 2023, 31(149): 612-616 | Back to browse issues page

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Bakhtiary H, Heidari N. A Novel Heterozygous Pathogenic Mutation of PPP2RIA Gene in a Pediatric Encephalopathy Patient: A Case Report. J Adv Med Biomed Res 2023; 31 (149) :612-616
URL: http://journal.zums.ac.ir/article-1-7270-en.html
A Novel Heterozygous Pathogenic Mutation of PPP2RIA Gene in a Pediatric Encephalopathy Patient: A Case Report
Hassan Bakhtiary *1 , Narges Heidari2
1- Dept. of Pediatrics, School of Medicine, Ayatollah Mousavi Hospital, Zanjan University of Medical Sciences, Zanjan, Iran , hbakhtiary@zums.ac.ir
2- Dept. of Pediatrics, School of Medicine, Ayatollah Mousavi Hospital, Zanjan University of Medical Sciences, Zanjan, Iran
Abstract:   (1479 Views)

Encephalopathy is a syndrome of overall brain dysfunction with unknown causes despite its well-recognized etiology. This study reports clinical laboratory, radiological, and magnetic resonance imaging (MRI) findings as well as whole-exome sequencing (WES) of a female patient aged 19 months and 7 days with encephalopathy. To this end, the documented files of the hospitalized encephalopathy patients in Ayat Allah Mosavi hospital (Zanjan, Iran), referred from Khodabandeh city, Zanjan, Iran, were investigated. The initial symptoms, laboratory tests, computerized tomography (CT) scans, MRI, WES, and the course of disease were reported. The laboratory examination revealed mild anemia, and the normal range of the CSF, ESR, and CRP. Brain CT indicated brain edema while the MRI analysis of the brain revealed hypersignality. The c. 352G>A heterozygote variant was diagnosed in the PPP2RIA gene in exon four of chromosome 19. According to the observations, the frequency of this disorder was higher in this region of Zanjan province than other areas. The limitation of this study such as lack of access to the patients or biological samples of other similar patients hindered further evaluation. Hence, comprehensive research must be conducted to reveal the underlying etiology.

Keywords: Epileptic Encephalopathy, PPP2R1A Mutation, Brain Diseases, Whole-exome Sequencing
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✅ This study reports clinical laboratory, radiological, and magnetic resonance imaging (MRI) findings as well as whole-exome sequencing (WES) of a female patient aged 19 months and 7 days with encephalopathy. The limitation of this study such as lack of access to the patients or biological samples of other similar patients hindered further evaluation. Hence, comprehensive research must be conducted to reveal the underlying etiology.


Type of Study: Case Report Article | Subject: Medical Biology
Received: 2023/08/12 | Accepted: 2023/10/9 | Published: 2024/01/29
References
1. Gold J, Zhao K, Abraham M, et al. Encephalopathy of unknown origin in a baclofen patient: Case report and review of the literature. World Neurosurg. 2020;136:136-9. [DOI:10.1016/j.wneu.2020.01.044] [PMID]
2. Kennedy PG, Quan PL, Lipkin WIJV. Viral encephalitis of unknown cause: current perspective and recent advances. Viruses. 2017;9(6):138. [DOI:10.3390/v9060138] [PMID] [PMCID]
3. Mizuguchi M, Yamanouchi H, Ichiyama T, Shiomi M. Acute encephalopathy associated with influenza and other viral infections. Acta Neurol Scand Suppl. 2007;115:45-56. [DOI:10.1111/j.1600-0404.2007.00809.x] [PMID]
4. Nakata K, Kashiwagi M, Masuda M, et al. A child with acute encephalopathy associated with quadruple viral infection. Front Pediatr. 2015;3:26. [DOI:10.3389/fped.2015.00026] [PMID] [PMCID]
5. Amin R, Ford-Jones E, Richardson SE, et al. Acute childhood encephalitis and encephalopathy associated with influenza: a prospective 11-year review. Pediatr Infect Dis J. 2008;27(5):390-5. [DOI:10.1097/INF.0b013e31816507b2] [PMID]
6. Gu Y, Shimada T, Yasui Y, Tada Y, Kaku M, Okabe. National surveillance of influenza-associated encephalopathy in Japan over six years, before and during the 2009-2010 influenza pandemic. PLoS One. 2013;8(1):e54786. [DOI:10.1371/journal.pone.0054786] [PMID] [PMCID]
7. Leonard JV. Acute metabolic encephalopathy: an introduction. J Inherit Metab Dis. 2005;28(3):403-6 [DOI:10.1007/s10545-005-8047-y] [PMID]
8. Kwong AK, Ho AC, Fung C, Wong VC. Analysis of mutations in 7 genes associated with neuronal excitability and synaptic transmission in a cohort of children with non-syndromic infantile epileptic encephalopathy. PloS One. 2015;10(5):e0126446. [DOI:10.1371/journal.pone.0126446] [PMID] [PMCID]
9. Sartori S, Polli R, Bettella E, et al. Pathogenic role of the X-linked cyclin-dependent kinase-like 5 and aristaless-related homeobox genes in epileptic encephalopathy of unknown etiology with onset in the first year of life. J Child Neurol. 2011;26(6):683-91. [DOI:10.1177/0883073810387827] [PMID]
10. Saini AG, Singhi P. Infantile metabolic encephalopathy due to fumarase deficiency. J Child Neurol. 2013;28(4):535-7. [DOI:10.1177/0883073812447286] [PMID]
11. Zhang Y, Li H, Wang H, Jia Z, Xi H, Mao X. A de novo variant identified in the PPP2R1A gene in an infant induces neurodevelopmental abnormalities. Neurosci Bullet. 2020;36(2):179-82. [DOI:10.1007/s12264-019-00430-4] [PMID] [PMCID]
12. Lenaerts L, Reynhout S, Verbinnen I, et al. The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction. Genet Med. 2021;23(2):352-62. [DOI:10.1038/s41436-020-00981-2] [PMID] [PMCID]
13. Happ HC, Carvill GLJEC. A 2020 view on the genetics of developmental and epileptic encephalopathies. Epilepsy Curr. 2020;20(2):90-6. [DOI:10.1177/1535759720906118] [PMID] [PMCID]
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