Irish Journal of Medical Science (1971 -)· 2026Q2· Case report
Autosomal recessive axonal neuropathy with neuromyotonia in a paediatric patient – a case based review
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- Q2SCImago
- 2026year
Short summary
A 13-year-old girl with gait impairment and motor weakness since age 6 was diagnosed with autosomal recessive axonal neuropathy with neuromyotonia (ARAN-NM) due to a homozygous HINT1 gene variant (c.110G>C).
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Key points
- A paediatric patient presented with gait impairment and progressive motor weakness starting at age 6.
- Delayed muscle relaxation (neuromyotonia) developed later in the course of the illness.
- Electrophysiological studies revealed axonal motor polyneuropathy and neuromyotonic discharges.
- Molecular analysis confirmed a homozygous pathogenic variant (c.110G>C) in the HINT1 gene, the cause of ARAN-NM.
AI-generated from the title and abstract; the full text is not read.
Abstract
BACKGROUND: Autosomal recessive axonal neuropathy with neuromyotonia (ARAN-NM) is a distinct clinical and genetic entity within the hereditary peripheral neuropathies (HPN), caused by recessive loss-of-function mutations in the histidine triad nucleotide binding protein 1 (HINT1) gene. CASE PRESENTATION: We report the case of a 13-year-old girl presenting with gait impairment and progressive motor weakness starting at the age of 6, with delayed muscle relaxation after a strong voluntary contraction, which developed later in the course. Electrophysiological studies showed axonal motor polyneuropathy and neuromyotonic discharges. Molecular analysis revealed a homozygous, pathogenic variant, c.110G > C (p.Arg37Pro) in HINT1. CONCLUSIONS: This case emphasises the elusive nature of ARAN-NM in children, whose clinical presentation is not distinctly characteristic at onset.
The authors' abstract, as published at the source. Irish Journal of Medical Science (1971 -), 2026 · DOI ↗
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Field: Cellular and Molecular Neuroscience
Cellular and Molecular NeuroscienceNeuroscience