Peripheral nerve ultrasound in pediatric Charcot-Marie-Tooth disease type 1A

牙病 医学 外围设备 周围神经 超声波 周围神经病变 疾病 病理 解剖 放射科 内科学 内分泌学 糖尿病
作者
Eppie M. Yiu,Cain Brockley,Katherine J. Lee,Kate Carroll,Katy de Valle,Rachel Kennedy,Padma Rao,Martin B. Delatycki,Monique M. Ryan
出处
期刊:Neurology [Lippincott Williams & Wilkins]
卷期号:84 (6): 569-574 被引量:44
标识
DOI:10.1212/wnl.0000000000001236
摘要

To investigate differences in nerve cross-sectional area (CSA) as measured by peripheral nerve ultrasound in children with Charcot-Marie-Tooth disease type 1A (CMT1A) compared to healthy controls.This was a cross-sectional, matched, case-control study. CSA of the median, ulnar, tibial, and sural nerves was measured by peripheral nerve ultrasound. The mean difference in CSA between children with CMT1A and controls at each nerve site was determined. The relationship between nerve CSA and age/body metrics, and between nerve CSA and neurologic disability in CMT1A, was also evaluated.Twenty-nine children with CMT1A and 29 age- and sex-matched controls were enrolled. Nerve CSA was significantly increased in children with CMT1A compared to controls (1.9- to 3.5-fold increase, p < 0.001). The increase in nerve CSA with age was disproportionately greater in those with CMT1A. Nerve CSA showed a strong positive linear correlation with age, height, and weight in both the CMT1A and control groups. Disease severity correlated with both nerve CSA and age.Children with CMT1A have significantly increased nerve CSA compared to controls, and the increase in nerve CSA with age is disproportionately greater in CMT1A, suggesting ongoing nerve hypertrophy throughout childhood. Nerve CSA correlates with neurologic disability. These findings demonstrate the utility of peripheral nerve ultrasound as a diagnostic tool in pediatric neuropathies, and as an outcome measure in natural history studies and clinical trials in CMT1A.This study provides Class IV evidence that measurement of nerve CSA by peripheral nerve ultrasound accurately identifies patients with CMT1A.
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