Mane Sushant, Chatterjee Rudrarpan
Department of Pediatrics, Grant Government Medical College and Sir J.J. Group of Hospitals, Mumbai, Maharashtra, India.
J Pediatr Neurosci. 2015 Jan-Mar;10(1):70-2. doi: 10.4103/1817-1745.154360.
Angelman syndrome is a neuro-developmental disorder with a genetic basis in maternal genomic imprinting that presents with cognitive and behavioral impairment. The distinction between the presentations of disorders causing developmental delay may be vague in early life, resulting in the potential delay in diagnosis and intervention. We report a case of Angelman syndrome with initial diagnostic confusion with multiple associated pathologies. A holistic evaluation and management of such patients is necessary.
安吉尔曼综合征是一种具有母系基因组印记遗传基础的神经发育障碍，表现为认知和行为障碍。在生命早期，导致发育迟缓的疾病表现之间的区别可能并不明显，从而导致诊断和干预可能会延迟。我们报告一例最初诊断混淆且伴有多种相关病理情况的安吉尔曼综合征病例。对此类患者进行全面评估和管理是必要的。
