Rauchenzauner Markus, Frühwirth Martin, Hecht Martin, Kofler Markus, Witsch-Baumgartner Martina, Fauth Christine
Department of Pediatrics, Hospital Ostallgäu-Kaufbeuren, Kaufbeuren, Germany.
Department of Pediatrics, Hospital St. Vinzenz, Zams, Austria.
Neuropediatrics. 2016 Apr;47(2):119-22. doi: 10.1055/s-0035-1570493. Epub 2016 Jan 13.
We report a girl with autosomal recessive axonal neuropathy with neuromyotonia (ARAN-NM) who presented with asymmetric gait impairment, foot drop, and action myotonia on fast handgrip. Electrophysiological studies showed symmetrical axonal motor greater than sensory neuropathy, and neuromyotonic discharges on needle electromyography. ARAN-NM was confirmed by molecular genetic testing, which revealed a novel homozygous missense variant c.100G > A [p.(Glu34Lys)] in HINT1. This case shows that the diagnosis of ARAN-NM, as a new entity, has to be considered in the differential diagnosis of polyneuropathy in combination with neuromyotonia/action myotonia in children, even with asymmetric clinical presentation.
我们报告了一名患有常染色体隐性遗传性轴索性神经病伴神经肌强直（ARAN-NM）的女孩，她表现为不对称步态障碍、足下垂以及快速抓握时出现动作性肌强直。电生理研究显示为对称性轴索性运动神经病变大于感觉神经病变，针极肌电图检查可见神经肌强直放电。通过分子遗传学检测确诊为ARAN-NM，检测发现HINT1基因存在一个新的纯合错义变异c.100G > A [p.(Glu34Lys)]。该病例表明，作为一种新的疾病实体，ARAN-NM的诊断在儿童多发性神经病伴神经肌强直/动作性肌强直的鉴别诊断中必须予以考虑，即便临床表现为不对称。
