两例婴儿神经轴索性营养不良：表现不同的兄弟姐妹。
Infantile Neuroaxonal Dystrophy in Two Cases: Siblings with Different Presentations.
作者信息
Ansari Behnaz, Nasiri Jafar, Namazi Hamide, Sedghi Maryam, Afzali Mahdieh
机构信息
Neurologist, Isfahan Neuroscience Research Center, Al-Zahra Hospital Research Institute, Department of Pediatric Neurology, Isfahan University of Medical Science, Isfahan, Iran.
Professor of Neurology, Department of Pediatric Neurology, Faculty of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.
出版信息
Iran J Child Neurol. 2022 Summer;16(3):193-198. doi: 10.22037/ijcn.v16i2.30864. Epub 2022 Jul 16.
Infantile neuroaxonal dystrophy (INAD) is a rare recessive neurodegenerative disorder manifested by symptoms like hypotonia, extrapyramidal signs, spastic tetraplegia, vision problems, cerebellar ataxia, cognitive complications, and dementia before the age of three. Various reports evaluated the relationship between the incidence of INAD and different mutations in the PLA2G6 gene. We described cases of two children with INAD whose diagnoses were challenging due to misleading findings and a mutation in the C.2370 T>G (p. Y790X) in the PLA2G6 gene based on NM_001349864, which has been reported previously.
婴儿神经轴索性营养不良（INAD）是一种罕见的隐性神经退行性疾病，表现为肌张力减退、锥体外系体征、痉挛性四肢瘫、视力问题、小脑共济失调、认知并发症以及三岁前出现痴呆等症状。各种报告评估了INAD发病率与PLA2G6基因不同突变之间的关系。我们描述了两例INAD患儿的病例，由于存在误导性发现，其诊断颇具挑战性，并且基于之前已报道的NM_001349864，这两名患儿的PLA2G6基因存在C.2370 T>G（p.Y790X）突变。
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