Angelman综合征(AS)是一种罕见的儿科神经系统疾病,患者最常出现不适当的笑声,小头畸形,言语困难,癫痫发作,和运动障碍。AS可以在临床上诊断,并通过基因检测确认。在这个案例报告中,患者在2日龄时出现9.3%的体重减轻.尽管在泌乳咨询和营养指导方面有多次尝试,病人因未能茁壮成长而入院。由于持续的全球发育迟缓和9个月大的上下肢张力减退,患者被转诊至神经科医师。脑部MRI阴性,基因检测显示15q11.2q13.1缺失,这与AS一致。通过不同的治疗和干预,患者症状改善缓慢。此病例说明了早期识别AS非特异性临床表现的重要性。所有AS患者的一般管理包括物理治疗,言语治疗,移动性支持设备,教育,以及他们在生活中进步的行为疗法。建立早期诊断具有改善患者生活质量和结果的潜在长期益处,通过早期干预措施,例如从6个月大开始的物理治疗,以改善粗大运动功能。当婴儿出现非特异性临床表现,如未能茁壮成长和张力减退时,临床医生应该保持较低的怀疑遗传条件的阈值,这将有助于AS的早期诊断。
Angelman syndrome (AS) is a rare pediatric neurological condition in which patients most commonly present with inappropriate laughter, microcephaly, speech difficulties, seizures, and movement disorders. AS can be diagnosed clinically and confirmed with genetic testing. In this
case report, the patient presented with 9.3% weight loss at two days of age. Although there were multiple attempts at lactational counseling and nutritional guidance, the patient was admitted to the hospital due to failure to thrive. Due to continued global developmental delay and upper and lower extremities hypotonia by the age of nine months, the patient was referred to a neurologist. Brain MRI was negative, and genetic testing revealed 15q11.2q13.1 deletion, which is consistent with AS. Through different therapies and intervention, the patient showed slow improvements in symptoms. This
case illustrates the importance of early recognition of nonspecific clinical manifestations of AS. The general management for all AS patients includes physical therapy, speech therapy, mobility support devices, education, and behavioral therapy as they progress through life. Establishing an early diagnosis has potential long-term benefits of improved quality of life and outcomes for patients via early interventions such as physical therapy starting at the age of six months to improve gross motor function. When infants present with nonspecific clinical presentations such as failure to thrive and hypotonia, clinicians should maintain a lower threshold for suspecting genetic conditions, which will facilitate early diagnosis of AS.