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Neuropediatrics 2016; 47(02): 119-122
DOI: 10.1055/s-0035-1570493
Short Communication
Georg Thieme Verlag KG Stuttgart · New York

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

Markus Rauchenzauner
1   Department of Pediatrics, Hospital Ostallgäu-Kaufbeuren, Kaufbeuren, Germany
,
Martin Frühwirth
2   Department of Pediatrics, Hospital St. Vinzenz, Zams, Austria
,
Martin Hecht
3   Department of Neurology, Bezirkskliniken Schwaben, Kaufbeuren, Germany
,
Markus Kofler
4   Department of Neurology, Hochzirl Hospital, Zirl, Austria
,
Martina Witsch-Baumgartner
5   Division of Human Genetics, Department of Medical Genetics, Molecular and Clinical Pharmacology, Medical University of Innsbruck, Innsbruck, Austria
,
Christine Fauth
5   Division of Human Genetics, Department of Medical Genetics, Molecular and Clinical Pharmacology, Medical University of Innsbruck, Innsbruck, Austria
› Author Affiliations
Further Information

Publication History

14 September 2015

19 November 2015

Publication Date:
13 January 2016 (online)

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Abstract

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.

Keywords

HINT1 - ARAN-NM - myotonia - neuropathy - children
 

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