致新生儿肌张力低下外周神经肌肉疾病概述
- Authors
- Olaf A Bodamer, MD, PhD, FAAP, FACMG
Olaf A Bodamer, MD, PhD, FAAP, FACMG
- Park Gerald Chair in Genetics and Genomics
- Associate Chief, Genetics and Genomics
- Boston Children’s Hospital/Harvard Medical School
- Geoffrey Miller, MD
Geoffrey Miller, MD
- Professor of Pediatrics and Neurology
- Yale University
- Section Editors
- Marc C Patterson, MD, FRACP
Marc C Patterson, MD, FRACP
- Section Editor — Pediatric Neurology
- Professor of Neurology, Pediatrics, and Medical Genetics
- Chair, Division of Child and Adolescent Neurology
- Mayo Clinic College of Medicine
- Richard Martin, MD
Richard Martin, MD
- Section Editor — Neonatology
- Professor, Pediatrics, Reproductive Biology, and Physiology & Biophysics
- Case Western Reserve University School of Medicine
- Deputy Editor
- John F Dashe, MD, PhD
John F Dashe, MD, PhD
- Deputy Editor — Neurology
- Translators
- 曾凌空, 主任医师
曾凌空, 主任医师
- 武汉市儿童医院新生儿内科
引言
罹患神经肌肉疾病的新生儿常表现为肌张力低下和肌无力。 (参见“肌张力减退和肌无力婴儿的概述”)
这些疾病是由多种侵犯中枢神经系统(脑或脊髓)、外周神经系统或骨骼肌的疾病引起的[1]。本文将简要总结侵犯后两个部位的疾病(表 1)。这些疾病、累及脑和脊髓下行运动传导束的上运动神经元病变所导致的疾病和其他全身性疾病(如Prader-Willi综合征、Angelman综合征、多发性微小先天异常综合征或先天性代谢障碍)将在别处作更全面地讨论。 (参见“Prader-Willi综合征的临床特征、诊断与治疗”和“遗传性代谢病：分类”和“遗传性代谢病：代谢性急症”和“Inborn errors of metabolism: Epidemiology, pathogenesis, and clinical features”)
脊髓前角细胞疾病
许多疾病都是由脊髓前角细胞变性所致，包括脊髓性肌萎缩(spinal muscular atrophy, SMA)、创伤性脊髓病、缺氧缺血性脊髓病和神经源性关节挛缩。
脊髓性肌萎缩 — 新生儿最常见和严重的类型是SMA 1型，又名Werdnig-Hoffmann病。对具有以下特征的婴儿应该怀疑该疾病：弥漫性对称性近端肌无力且下肢比上肢更明显，伴深部腱反射明显减弱或消失。SMA 2型和3型发病较晚，严重程度较轻。 (参见“脊髓性肌萎缩”)
创伤性脊髓病 — 极少数时候，婴儿肌张力低下的原因是高位颈髓创伤所致脊髓病。该疾病可导致弛缓性麻痹(可能为不对称性)和反射消失。体格检查时可能发现创伤的证据，如瘀斑或骨折。如果不伴有脑损伤，则婴儿意识清醒且无脑神经异常。针刺面部可见到痛苦表情但颈部以下无反应。一个有助于判断的体征是肢体对外界伤害性刺激有退缩反应，但无自发性活动。随着脊髓病进展，通常会在数日间出现膀胱扩张、异常勃起及脊髓损伤节段以下无汗。
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