A Novel Variant in the HINT1 Gene in a Girl with Autosomal Recessive Axonal Neuropathy with Neuromyotonia: Thorough Neurological Examination Gives the Clue

被引：12

作者：

Rauchenzauner, Markus ^{[1
]}

Fruehwirth, Martin ^{[2
]}

Hecht, Martin ^{[3
]}

Kofler, Markus ^{[4
]}

Witsch-Baumgartner, Martina ^{[5
]}

Fauth, Christine ^{[5
]}

机构：

[1] Hosp Ostallgau Kaufbeuren, Dept Pediat, Gutermannstr 2, D-87600 Kaufbeuren, Germany

[2] Hosp St Vinzenz, Dept Pediat, Zams, Austria

[3] Bezirkskliniken Schwaben, Dept Neurol, Kaufbeuren, Germany

[4] Hochzirl Hosp, Dept Neurol, Zirl, Austria

[5] Med Univ Innsbruck, Dept Med Genet Mol & Clin Pharmacol, Div Human Genet, A-6020 Innsbruck, Austria

来源：

NEUROPEDIATRICS | 2016年 / 47卷 / 02期

关键词：

HINT1; ARAN-NM; myotonia; neuropathy; children; MARIE-TOOTH-DISEASE; HEREDITARY MOTOR; NATURAL-HISTORY; MUTATIONS; CHILDHOOD; CLASSIFICATION; SUBSTITUTIONS; ENTITY;

D O I：

10.1055/s-0035-1570493

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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.

引用

页码：119 / 122

页数：4