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; Martin Frühwirth; Martin Hecht; Markus Kofler; Martina Witsch-Baumgartner; Christine Fauth

doi:10.1055/s-0035-1570493

Neuropediatrics, Inhaltsverzeichnis

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

Autoren

Markus Rauchenzauner

¹Department of Pediatrics, Hospital Ostallgäu-Kaufbeuren, Kaufbeuren, Germany
Martin Frühwirth

²Department of Pediatrics, Hospital St. Vinzenz, Zams, Austria
Martin Hecht

³Department of Neurology, Bezirkskliniken Schwaben, Kaufbeuren, Germany
Markus Kofler

⁴Department of Neurology, Hochzirl Hospital, Zirl, Austria
Martina Witsch-Baumgartner

⁵Division of Human Genetics, Department of Medical Genetics, Molecular and Clinical Pharmacology, Medical University of Innsbruck, Innsbruck, Austria
Christine Fauth

⁵Division of Human Genetics, Department of Medical Genetics, Molecular and Clinical Pharmacology, Medical University of Innsbruck, Innsbruck, Austria

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

Volltext

Referenzen

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