Al Shibli Naema, Al-Maawali Almundher, Elmanzalawy Alaa, Al-Nabhani Maryam, Koul Roshan, Gabr Ahlam, Al Murshedi Fathiya
Department of Child Health, Sultan Qaboos University Hospital, Muscat, Oman.
Genetic and Developmental Medicine Clinic, Sultan Qaboos University Hospital, Muscat, Oman.
J Pediatr Genet. 2020 Dec;9(4):293-295. doi: 10.1055/s-0039-1700975. Epub 2020 Jan 6.
Andermann syndrome, otherwise known as agenesis of the corpus callosum with peripheral neuropathy (ACCPN), is an autosomal recessive motor and sensory neuropathy known to be associated with ACC and mild-to-moderate intellectual disability. We present a 7-year-old girl with infantile-onset hypotonia, mild intellectual disability, and severe motor and sensory demyelinating peripheral neuropathy. Brain magnetic resonance imaging showed intact corpus callosum. Whole exome sequencing showed a novel splice-site pathogenic variant in the gene. We confirm that ACC is not a mandatory feature and suggest that the term ACCPN may be misleading.
安德曼综合征，又称胼胝体发育不全伴周围神经病（ACCPN），是一种常染色体隐性运动和感觉神经病，已知与胼胝体发育不全及轻度至中度智力残疾有关。我们报告一名7岁女童，自幼出现肌张力减退、轻度智力残疾以及严重的运动和感觉脱髓鞘性周围神经病。脑部磁共振成像显示胼胝体完整。全外显子组测序显示该基因存在一个新的剪接位点致病性变异。我们证实胼胝体发育不全并非必备特征，并提示ACCPN这一术语可能会产生误导。
