Division of Pediatric Neurology, McMaster University, Hamilton, Ontario, Canada.
Department of Pathology (Genetics), McMaster Children's Hospital, Hamilton, Ontario, Canada.
Pediatr Neurol. 2017 Nov;76:82-85. doi: 10.1016/j.pediatrneurol.2017.07.010. Epub 2017 Jul 19.
Ogden syndrome is a rare X-linked disorder caused by pathogenic variants in the NAA10 gene. This syndrome, reported in just over 20 children, has been associated with dysmorphic features, failure to thrive, developmental impairments, hypotonia, and cardiac arrhythmias.
We describe a 14-year-old girl who presented in infancy with hypotonia, global developmental delay, and dysmorphic features. She later developed autism spectrum disorder, epileptic encephalopathy, extrapyramidal signs, early morning lethargy with hypersomnolence, and hypertension with left ventricular hypertrophy. Magnetic resonance imaging showed a thin corpus callosum and progressive white matter loss. Whole exome sequencing identified a de novo pathogenic variant in the NAA10 gene (c.247C>T, p.R83C). Much of her early presentation was in keeping with what has been previously described with Ogden syndrome.
We have identified additional evolving neurological impairments in this, to date, oldest documented girl with Ogden syndrome. We recommend screening patients with Ogden syndrome for these newly identified features of early life trajectories to guide management.
Ogden 综合征是一种罕见的 X 连锁疾病，由 NAA10 基因的致病性变异引起。该综合征仅在 20 多名儿童中报道过，与发育不良、生长不良、发育障碍、肌张力低下和心律失常有关。
我们描述了一名 14 岁女孩，她在婴儿期表现为肌张力低下、全面发育迟缓以及发育不良。后来，她患上了自闭症谱系障碍、癫痫性脑病、锥体外系症状、清晨嗜睡伴过度嗜睡以及高血压伴左心室肥厚。磁共振成像显示胼胝体变薄和进行性白质丢失。全外显子组测序发现 NAA10 基因（c.247C>T，p.R83C）存在新生致病性变异。她的大部分早期表现与以前描述的 Ogden 综合征相符。
我们在迄今为止记录的最年长的 Ogden 综合征女性患者中发现了更多正在发展的神经损伤。我们建议对 Ogden 综合征患者进行这些新发现的早期生命轨迹特征筛查，以指导治疗。
