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无脑回畸形:LIS1 临床病例介绍,该病例通过 MLPA 方法确诊,并给出了儿童康复治疗的适应证。

Lissencephaly: presentation of a clinical case of LIS 1 with a diagnosis confirmed by MLPA method and indications for rehabilitation treatment in childhood.

机构信息

Clinical Evaluator, TNPEE and MSc in Rehabilitation Sciences of the Health Professions, Fondazione Serena Onlus - Centro Clinico NeMO, ASST Grande Ospedale Metropolitano Niguarda, Milan, Italy.

出版信息

Neurocase. 2023 Aug;29(4):103-112. doi: 10.1080/13554794.2024.2346985. Epub 2024 May 3.

DOI:10.1080/13554794.2024.2346985
PMID:38700449
Abstract

Lissencephaly is a very rare clinical condition that affects the formation of the brain and causes severe psychomotor retardation, convulsions and muscular spasticity or hypotonia, often also associated with respiratory problems, facial dysmorphisms, abnormalities of the fingers and toes and difficulty swallowing resulting in reduced life expectancy. The clinical case described in the following article demonstrates the diagnostic process and rehabilitation treatment of a patient through a narrative review of the scientific literature and the presentation of this condition in order to provide indications to guide rehabilitation treatment in childhood.

摘要

无脑回畸形是一种非常罕见的临床病症,会影响大脑的形成,导致严重的精神运动迟缓、抽搐和肌肉痉挛或张力减退,通常还伴有呼吸问题、面部畸形、手指和脚趾异常以及吞咽困难,从而导致预期寿命缩短。以下文章中描述的临床病例通过对科学文献的叙述性回顾和对该病症的呈现,展示了患者的诊断过程和康复治疗,旨在为指导儿童康复治疗提供依据。

相似文献

1
Lissencephaly: presentation of a clinical case of LIS 1 with a diagnosis confirmed by MLPA method and indications for rehabilitation treatment in childhood.无脑回畸形:LIS1 临床病例介绍,该病例通过 MLPA 方法确诊,并给出了儿童康复治疗的适应证。
Neurocase. 2023 Aug;29(4):103-112. doi: 10.1080/13554794.2024.2346985. Epub 2024 May 3.
2
[Genetic and clinical aspects of lissencephaly].[无脑回畸形的遗传学与临床特征]
Rev Neurol (Paris). 2007 May;163(5):533-47. doi: 10.1016/s0035-3787(07)90460-9.
3
A novel inverted 17p13.3 microduplication disrupting PAFAH1B1 (LIS1) in a girl with syndromic lissencephaly.一名患有综合征型无脑回畸形的女孩中,一种新型的17号染色体短臂13.3区反向微重复破坏了PAFAH1B1(LIS1)基因。
Am J Med Genet A. 2013 Jun;161A(6):1453-8. doi: 10.1002/ajmg.a.35904. Epub 2013 Apr 30.
4
High frequency of genomic deletions--and a duplication--in the LIS1 gene in lissencephaly: implications for molecular diagnosis.无脑回畸形中LIS1基因的高频率基因组缺失及重复:对分子诊断的意义
J Med Genet. 2008 Jun;45(6):355-61. doi: 10.1136/jmg.2007.056507. Epub 2008 Feb 19.
5
Novel frameshift mutation in LIS1 gene is a probable cause of lissencephaly: a case report.LIS1 基因中新的移码突变可能是无脑回畸形的原因:一例病例报告。
BMC Pediatr. 2022 Sep 14;22(1):545. doi: 10.1186/s12887-022-03595-6.
6
Missed diagnosis of lissencephaly after prenatal diagnosis: A case report.产前诊断后无脑回畸形漏诊 1 例报告。
Medicine (Baltimore). 2023 Feb 17;102(7):e33014. doi: 10.1097/MD.0000000000033014.
7
Listen carefully: LIS1 and DCX MLPA in lissencephaly and subcortical band heterotopia.仔细听好:无脑回畸形和皮质下带型异位症中的LIS1和DCX多重连接探针扩增技术
Eur J Hum Genet. 2009 Jun;17(6):701-2. doi: 10.1038/ejhg.2008.230. Epub 2008 Dec 3.
8
Lissencephaly: Expanded imaging and clinical classification.无脑回畸形:扩展的影像学及临床分类
Am J Med Genet A. 2017 Jun;173(6):1473-1488. doi: 10.1002/ajmg.a.38245. Epub 2017 Apr 25.
9
Localization of the mouse lissencephaly-1 gene to mouse chromosome 11B3, in close proximity to D11Mit65.小鼠无脑回-1基因定位于小鼠第11号染色体11B3区,与D11Mit65紧密相邻。
Somat Cell Mol Genet. 1995 Sep;21(5):345-9. doi: 10.1007/BF02257469.
10
Epileptogenic brain malformations: clinical presentation, malformative patterns and indications for genetic testing.致痫性脑畸形:临床表现、畸形模式及基因检测指征
Seizure. 2002 Apr;11 Suppl A:532-43; quiz 544-7.

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