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一名印度女孩的非典型儿童期起病的神经轴索性营养不良症

Atypical Childhood-onset Neuroaxonal Dystrophy in an Indian Girl.

作者信息

Jain Sakshi, Bhasin Himani, Romani Marta, Valente Enza Maria, Sharma Suvasini

机构信息

Department of Pediatrics, Surya Women and Child Hospital, Jaipur, India.

Department of Pediatrics, Shree Guru Gobind Singh Tricentenary Medical College and hospital, Delhi- NCR, India.

出版信息

J Pediatr Neurosci. 2019 Apr-Jun;14(2):90-93. doi: 10.4103/jpn.JPN_91_18.

DOI:10.4103/jpn.JPN_91_18
PMID:31516627
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6712922/
Abstract

A 7-year-old girl presented with progressive walking difficulties, spasticity, and cognitive decline with onset at 3 years of age. No seizures, vision, or hearing impairment were reported. The magnetic resonance imaging of the brain revealed cerebellar atrophy and evidence of iron deposition in the globi pallidi and substantia nigra. The clinico-radiological profile was suggestive of atypical childhood-onset neuroaxonal dystrophy. The patient was found to have compound heterozygous mutations in the gene confirming the diagnosis.

摘要

一名7岁女孩出现进行性行走困难、痉挛和认知衰退，起病于3岁。未报告有癫痫发作、视力或听力障碍。脑部磁共振成像显示小脑萎缩以及苍白球和黑质有铁沉积迹象。临床放射学特征提示为非典型儿童期起病的神经轴索性营养不良。该患者被发现该基因存在复合杂合突变，从而确诊。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1617/6712922/209f42c47278/JPN-14-90-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1617/6712922/b90594cfdee3/JPN-14-90-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1617/6712922/209f42c47278/JPN-14-90-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1617/6712922/b90594cfdee3/JPN-14-90-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1617/6712922/209f42c47278/JPN-14-90-g002.jpg

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本文引用的文献

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Spastic paraparesis with basal ganglia changes: Infantile neuroaxonal dystrophy.伴有基底节改变的痉挛性截瘫：婴儿神经轴索性营养不良。
Neurol India. 2018 Jan-Feb;66(1):264. doi: 10.4103/0028-3886.222887.
2
Genetic Analysis of PLA2G6 in 22 Indian Families with Infantile Neuroaxonal Dystrophy, Atypical Late-Onset Neuroaxonal Dystrophy and Dystonia Parkinsonism Complex.对22个患有婴儿型神经轴索性营养不良、非典型迟发性神经轴索性营养不良和肌张力障碍帕金森综合征复合体的印度家庭中的PLA2G6进行基因分析。
PLoS One. 2016 May 19;11(5):e0155605. doi: 10.1371/journal.pone.0155605. eCollection 2016.
3
Infantile and childhood onset PLA2G6-associated neurodegeneration in a large North African cohort.
伴有脑铁蓄积的神经退行性变：20 个印度家系中表型和基因型多样性的病例系列。
Neurogenetics. 2023 Apr;24(2):113-127. doi: 10.1007/s10048-023-00712-0. Epub 2023 Feb 15.
4
Novel Pathogenic Variants in Chinese Patients With -Associated Neurodegeneration.中国患有 - 相关神经退行性疾病患者的新型致病变体。
Front Neurol. 2022 Jul 13;13:922528. doi: 10.3389/fneur.2022.922528. eCollection 2022.
北非大样本队列中 PLA2G6 相关性神经退行性疾病的婴儿和儿童发病型
Eur J Neurol. 2015 Jan;22(1):178-86. doi: 10.1111/ene.12552. Epub 2014 Aug 27.
4
PLA2G6-associated neurodegeneration (PLAN): further expansion of the clinical, radiological and mutation spectrum associated with infantile and atypical childhood-onset disease.磷脂酶A2G6相关神经变性（PLAN）：与婴儿期和非典型儿童期起病疾病相关的临床、影像学和突变谱的进一步扩展。
Mol Genet Metab. 2014 Jun;112(2):183-9. doi: 10.1016/j.ymgme.2014.03.008. Epub 2014 Mar 29.
5
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6
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7
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