新生儿张力减退表现为低肌张力和一系列症状,这些症状因病因而异。这种情况的鉴别诊断是复杂的。在遵循诊断算法并执行其他测试之前,排除危及生命的原因至关重要。鉴于新生儿低张力的临床症状和病因广泛,快速基因检测有可能加快诊断,减少侵入性检查,如肌肉活检,减少住院时间,并指导病情管理。一名四周大的女孩因一天的嗜睡史被送往急诊科(ED),喂养不良,拥塞,咳嗽,和低氧血症。鉴于鼻肠道病毒检测阳性和高炎症标志物,使用抗生素。成像,静脉血气,血培养是阴性的,患者因低氧血症入院儿科重症监护病房(PICU).在语言病理学(SLP)和职业治疗(OT)评估后,口面部肌肉薄弱和进食问题导致鼻胃管放置。一项吞咽研究显示咽部收缩和吞咽后液体残留物减少。喉镜检查显示轻度喉软化和吞咽困难伴误吸。基因检测确定了ACTA1突变并证实了线虫肌病(NM)。患者的氧气水平在睡眠期间进一步下降,导致严重阻塞性和中度-重度中枢性睡眠呼吸暂停的诊断。治疗包括氧疗,SLP,物理治疗,沙丁胺醇,和咳嗽辅助。放电后,该患者经常因慢性呼吸衰竭和细支气管炎再次入院,后来插入了胃造口术和气管造口术管。此特定案例强调了实施新生儿张力减退诊断算法的重要性。这对医生也很重要,尤其是急诊医学(EM)提供者,首先排除感染,脓毒症,以及心脏和呼吸器官衰竭,然后再进行其他检查。然后,医生应该评估更罕见的病因。在这个病人的情况下,张力减退是由于一种罕见的遗传病,线虫肌病,多学科方法被用于该患者的护理。
Neonatal hypotonia presents with low muscle tone and an array of symptoms that vary depending on the etiology. The differential diagnosis for this condition is complex. It is crucial to exclude life-threatening causes before following a diagnostic algorithm and performing additional tests. Given the wide range of clinical symptoms and etiologies for neonatal hypotonia, rapid genetic testing has the potential to expedite diagnosis, reduce invasive testing such as muscle biopsy, reduce hospital stays, and guide condition management. A four-week-old girl was admitted to the emergency department (ED) with a one-day history of lethargy, poor feeding, congestion, cough, and hypoxemia. Given positive rhino-enterovirus testing and high inflammatory markers, antibiotics were administered. Imaging, venous blood gas, and blood cultures were negative, and the patient was admitted to the pediatric intensive care unit (PICU) for hypoxemia. After speech-language pathology (SLP) and occupational therapy (OT) evaluation, weak orofacial muscles and feeding issues resulted in a nasogastric tube placement. A swallow study revealed decreased pharyngeal contraction and post-swallow liquid residue. Laryngoscopy showed mild laryngomalacia and dysphagia with aspiration. Genetic testing identified an ACTA1 mutation and confirmed nemaline myopathy (NM). The patient\'s oxygen levels dropped further during sleep, resulting in diagnoses of severe obstructive and moderate-severe central sleep apnea. Treatment included oxygen therapy, SLP, physical therapy, albuterol, and cough assists. After discharge, the patient was frequently re-admitted with chronic respiratory failure and bronchiolitis and later had gastrostomy and tracheostomy tubes inserted. This specific case highlights the importance of implementing a diagnostic algorithm for neonatal hypotonia. It is also important for physicians, especially emergency medicine (EM) providers, to first exclude infection, sepsis, and cardiac and respiratory organ failure before looking into other tests. Then, physicians should evaluate for more rare etiologies. In this patient\'s case, the hypotonia was due to a rare genetic disease, nemaline myopathy, and a multidisciplinary approach was used for this patient\'s care.