Kaler Jasndeep, Hussain Azhar, Patel Sundip, Majhi Shankar
Medicine, Xavier University School of Medicine, Oranjestad, ABW.
Healthcare Administration, Franklin University, Columbus, USA.
Cureus. 2020 Feb 8;12(2):e6922. doi: 10.7759/cureus.6922.
Floppy infant syndrome, also sometimes referred to as rag-doll syndrome, is characterized by hypotonia that could present as either peripheral hypotonia or central. Depending on the origin of hypotonia, the infant will present with different symptoms that ultimately have the characteristic feature of hypotonia. The clinical examination is crucial in diagnosing floppy infant syndrome in the neonate period, but the most critical factor is investigating and diagnosing the underlying cause of hypotonia. Regardless of whether the underlying cause of hypotonia is peripheral or central in origin, the presentation of floppy infant syndrome focuses on observing for the presence or absence of specific signs such as 'frog-leg' posture, significant head lag on traction or pull-to-sit maneuver, or the feeling of 'slipping through the hands' when the infant is held under the arms. Infantile botulism, transient neonatal myasthenia gravis, congenital myasthenia gravis, hypermagnesemia, and aminoglycoside toxicity are all neuromuscular junction disorders that are considered to be a differential diagnosis of floppy infant syndrome. These neuromuscular junction disorders ultimately impact the presence of acetylcholine within the neuromuscular junction. While some of these disorders may impact the acetylcholine receptors, others may cause a depletion within the end-plate anticholinesterase enzyme. A deficiency within the anticholinesterase deficiency may cause desensitization to acetylcholine, which could also cause present with floppy infant syndrome as well. Depending on the underlying causative disorder leading to the presence of floppy infant syndrome, the treatment will vary considerably. Treatment of the underlying causative syndrome resulting in the presentation of floppy infant syndrome deals with the symptoms of hypotonia, and as a result, the decreased muscle tone, diminished tendon reflexes, any feeding or respiratory difficulties diminish.
松软婴儿综合征，有时也被称为玩偶综合征，其特征为肌张力减退，可表现为外周性肌张力减退或中枢性肌张力减退。根据肌张力减退的起源，婴儿会出现不同症状，最终都具有肌张力减退的特征性表现。临床检查对于新生儿期松软婴儿综合征的诊断至关重要，但最关键的因素是调查和诊断肌张力减退的潜在原因。无论肌张力减退的潜在原因是外周性还是中枢性，松软婴儿综合征的表现都着重观察特定体征的有无，如“蛙腿”姿势、牵拉或拉起坐起动作时明显的头部滞后，或抱起婴儿腋下时“从手中滑过”的感觉。婴儿肉毒中毒、短暂性新生儿重症肌无力、先天性重症肌无力、高镁血症和氨基糖苷类药物毒性都是神经肌肉接头疾病，被认为是松软婴儿综合征的鉴别诊断。这些神经肌肉接头疾病最终会影响神经肌肉接头处乙酰胆碱的存在。虽然其中一些疾病可能影响乙酰胆碱受体，但其他疾病可能导致终板抗胆碱酯酶酶的耗竭。抗胆碱酯酶缺乏可能导致对乙酰胆碱脱敏，这也可能导致出现松软婴儿综合征。根据导致松软婴儿综合征的潜在致病疾病，治疗方法会有很大差异。治疗导致松软婴儿综合征出现的潜在致病综合征可处理肌张力减退的症状，结果是肌肉张力降低、腱反射减弱、任何喂养或呼吸困难都会减轻。
