Clinical and rare cranial magnetic resonance image findings of a child with atypical RETT syndrome and literature review

doi:10.11852/zgetbjzz2023-0426

Chinese Journal of Child Health Care ›› 2024, Vol. 32 ›› Issue (6): 692-696.DOI: 10.11852/zgetbjzz2023-0426

• Case Report • Previous Articles

Clinical and rare cranial magnetic resonance image findings of a child with atypical RETT syndrome and literature review

SHI Zhen, CHEN Wenxiong

Department of Neurology,Guangzhou women and children's medical center,Guangzhou,Guangdong Province,510000,China

Received:2023-04-27 Revised:2023-06-25 Online:2024-06-10 Published:2024-06-03
Contact: CHEN Wenxiong,E-mail:chenwenxiong@gwcmc.org;gzchcwx@126.com

非典型RETT综合征患儿1例的临床及罕见头颅核磁共振表现并文献复习

石真, 陈文雄

广州市妇女儿童医疗中心神经内科,广东广州 510000

通讯作者: 陈文雄,E-mail:gzchcwx@126.com;chenwenxiong@gwcmc.org
作者简介:石真(1990-),女,住院医师,博士研究生,主要研究方向为神经系统遗传性疾病。
基金资助:
广州市科技计划 (202102020748) ;广州市妇女儿童医疗中心博士启动基金 (YIP-2019-028)

Abstract

CLC Number:

R749.94

SHI Zhen, CHEN Wenxiong. Clinical and rare cranial magnetic resonance image findings of a child with atypical RETT syndrome and literature review[J]. Chinese Journal of Child Health Care, 2024, 32(6): 692-696.

石真, 陈文雄. 非典型RETT综合征患儿1例的临床及罕见头颅核磁共振表现并文献复习[J]. 中国儿童保健杂志, 2024, 32(6): 692-696.

References

[1] Neul JL,Kaufmann WE,Glaze DG,et al.Rett syndrome:Revised diagnostic criteria and nomenclature[J].Ann Neurol,2010,68(6):944-950.
[2] Peron A,Canevini MP,Ghelma F,et al.Phenotypes in adult patients with Rett syndrome:Results of a 13-year experience and insights into healthcare transition[J].J Med Genet,2020,59(1):39-45.
[3] Wegener-Panzer A,Cleaveland R,Wendel EM,et al.Clinical and imaging features of children with autoimmune encephalitis and MOG antibodies[J].Neurol Neuroimmunol Neuroinflamm,2020,7(4):e731.
[4] Ebert DH,Gabel HW,Robinson ND,et al.Activity-dependent phosphorylation of MeCP2 threonine 308 regulates interaction with NCoR[J].Nature,2013,499(7458):341-345.
[5] Li CH,Coffey EL,Dall'Agnese A,et al.MeCP2 links heterochromatin condensates and neurodevelopmental disease[J].Nature,2020,586(7829):440-444.
[6] Ito-Ishida A,Baker SA,Sillitoe RV,et al.MeCP2 levels regulate the 3D structure of heterochromatic foci in mouse neurons[J].J Neurosci,2020,40(45):8746-8766.
[7] Lee W,Kim J,Yun JM,et al.MeCP2 regulates gene expression through recognition of H3K27me3[J].Nat Commun,2020,11(1):3140.
[8] Horvath PM,Piazza MK,Kavalali ET,et al.MeCP2 loss-of-function dysregulates microRNAs regionally and disrupts excitatory/inhibitory synaptic transmission balance[J].Hippocampus,2022,32(8):610-623.
[9] Pejhan S,Rastegar M.Role of DNA methyl-CpG-binding protein MeCP2 in Rett syndrome pathobiology and mechanism of disease[J].Biomolecules,2021,11(1):75.
[10] Liyanage VRB,Olson CO,Zachariah RM,et al.DNA methylation contributes to the differential expression levels of Mecp2 in male mice neurons and astrocytes[J].Int J Mol Sci,2019,20 (8):1845.
[11] Li W.Excitation and inhibition imbalance in Rett syndrome[J].Front Neurosci,2022,16:825063.
[12] Golubiani G,Lagani V,Solomonia R,et al.Metabolomic fingerprint of Mecp2-deficient mouse cortex:Evidence for a pronounced multi-facetted metabolic component in Rett syndrome[J].Cells,2021,10(9):2494.
[13] Wenk GL.Rett syndrome:Neurobiological changes underlying specific symptoms[J].Prog Neurobiol,1997,51(4):383-391.
[14] Zlatic SA,Werner E,Surapaneni V,et al.Systemic metabolic and mitochondrial defects in Rett syndrome models[J].BioRxiv,2023:2023.04.03.535431.
[15] Frasca A,Spiombi E,Palmieri M,et al.MECP2 mutations affect ciliogenesis:A novel perspective for Rett syndrome and related disorders[J].EMBO Mol Med,2020,12(6):e10270.
[16] Morello N,Schina R,Pilotto F,et al.Loss of Mecp2 causes atypical synaptic and molecular plasticity of parvalbumin-expressing interneurons reflecting Rett syndrome-like sensorimotor defects[J].eNeuro,2018,5(5):ENEURO,0086-18.2018.
[17] Renieri A,Mari F,Mencarelli MA,et al.Diagnostic criteria for the Zappella variant of Rett syndrome (the preserved speech variant)[J].Brain Dev,2009,31(3):208-216.
[18] Maranga C,Fernandes TG,Bekman E,et al.Angelman syndrome:A journey through the brain[J].FEBS J,2020,287(11):2154-2175.
[19] Stenton SL,Zou Y,Cheng H,et al.Leigh syndrome:A study of 209 patients at the Beijing Children's Hospital[J].Ann Neurol,2022,91(4):466-482.
[20] Shiohama T,Levman J,Takahashi E.Surface-and voxel-based brain morphologic study in Rett and Rett-like syndrome with MECP2 mutation[J].Int J Dev Neurosci,2019,73:83-88.
[21] Mencarelli MA,Spanhol-Rosseto A,Artuso R,et al.Novel FOXG1 mutations associated with the congenital variant of Rett syndrome[J].J Med Genet,2010,47(1):49-53.
[22] Wong LC,Singh S,Wang HP,et al.FOXG1-related syndrome:From clinical to molecular genetics and pathogenic mechanisms[J].Int J Mol Sci,2019,20(17):4176.
[23] Kunert S,Linhard V,Weirich S,et al.The MECP2-TRD domain interacts with the DNMT3A-ADD domain at the H3-tail binding site[J].Protein Sci,2023,32(1):e4542.
[24] Szigety KM,Liu F,Yuan CY,et al.HDAC3 ensures stepwise epidermal stratification via NCoR/SMRT-reliant mechanisms independent of its histone deacetylase activity[J].Genes Dev,2020,34(13-14):973-988.

Clinical and rare cranial magnetic resonance image findings of a child with atypical RETT syndrome and literature review

非典型RETT综合征患儿1例的临床及罕见头颅核磁共振表现并文献复习

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