Abstract：
We present an infant referred to Developmental Paediatrics for delays, slow growth, hypotonia, esotropia and spasticity. Over the course of 2 months, the infant\'s exam progressed, demonstrating worsening spasticity and tonal changes in the setting of a normal brain MRI with acquired microcephaly. Genetic testing demonstrated a pathogenic CTNNB1 nonsense mutation. Following the discovery of the underlying cause for the child\'s clinical picture, the child was evaluated by therapeutic services and neurology, which was initially only available via asynchronous telehealth, due to a resource limited area. Cerebral palsy is a nonprogressive neurodevelopmental disorder and, when associated with developmental delay, qualifies for further genetic investigation into the underlying aetiology. Genetic testing recommendations exist for developmental delay, but there is no current algorithm regarding testing for cerebral palsy. Education and clear guidelines on genetic testing allow for better prognostication and potential treatment in cases of cerebral palsy, especially when associated with other disorders.
摘要：
我们介绍了一名因延误而被转诊为发育性儿科的婴儿，生长缓慢,低张力,内斜视和痉挛。在两个月的时间里，婴儿的考试取得进展，在获得的小头畸形的正常脑MRI中，痉挛和音调变化加剧。基因检测显示了致病性CTNNB1无义突变。在发现儿童临床表现的根本原因后，通过治疗服务和神经科对孩子进行了评估，最初只能通过异步远程医疗获得，由于资源有限的区域。脑瘫是一种非进行性神经发育障碍,当与发育迟缓相关时，有资格对潜在病因进行进一步的遗传调查。存在发育迟缓的基因检测建议，但是目前没有关于脑瘫测试的算法。关于基因检测的教育和明确的指导方针允许在脑瘫病例中更好的预测和潜在的治疗,特别是当与其他疾病有关时。
