Abstract
Autosomal recessive peripheral neuropathy with neuromyotonia (ARAN-NM) is a relatively newly described disease associated with mutations in the HINT1 gene. It accounts for a significant part of the poorly differentiated forms of axonal polyneuropathies. We present the first in Russia description of the genetically confirmed case of ARAN-NM in a boy aged 14 years and 11 months without the hereditary-tainted anamnesis. On presentation, the patient experienced progressive distal muscular weakness, asymmetric foot deformity, gait disorders and minimal manifestations of neuromyotonia (stiffness in the fingers). During examination, we detected an increase in the level of creatine phosphokinase up to 635 U/l, a disturbance of conduction of motor and, to a lesser extent, sensory fibers of the peripheral nerves (according to the stimulation electromyography, EMG), denervation-reinnervation changes, single positive acute waves, fibrillation potentials, complex repeated discharge (according to the data of needle EMG). In the study of exome, a homozygous mutation c.110G>C, p.R37P was determined in exon 01 of the HINT1 gene, which confirmed the presence of ARAN-NM. A molecular-genetic examination of the patient's immediate relatives was carried out. The described case is compared with literature data. An overview of currently available information on ARAN-NM is provided. Diagnostic criteria of the disease are presented.
Highlights
Autosomal recessive peripheral neuropathy with neuromyotonia (ARAN-NM) is a relatively newly described disease associated with mutations in the HINT1 gene
It accounts for a significant part of the poorly differentiated forms of axonal polyneuropathies
We present the first in Russia description of the genetically confirmed case of Autosomal Recessive Peripheral Neuropathy With Neuromyotonia (ARAN-NM) in a boy aged 14 years and 11 months without the hereditary-tainted anamnesis
Summary
Тардова Национальный медицинский исследовательский центр здоровья детей, Москва, Российская Федерация. Аутосомно-рецессивная периферическая нейропатия с нейромиотонией (ARAN-NM) — сравнительно недавно описанное заболевание, ассоциированное с мутациями в гене HINT1. Представляем первое в России описание генетически подтвержденного случая ARAN-NM у мальчика 14 лет 11 мес без отягощенного наследственного анамнеза. При обращении у пациента наблюдались прогрессирующая дистальная мышечная слабость, асимметричная деформация стоп, нарушения походки и минимальные проявления нейромиотонии (скованность в пальцах рук). При исследовании экзома определена гомозиготная мутация c.110G>C, p.R37P в экзоне 01 гена HINT1, подтвердившая наличие ARAN-NM. Ключевые слова: аксональная нейропатия, ген HINT1, ARAN-NM, нейромиотония, периферическая нейропатия с нейромиотонией, наследственная полинейропатия, моторная нейропатия, болезнь Шарко–Мари–Тутса 2-го типа. М. Аутосомно-рецессивная периферическая нейропатия с нейромиотонией (ARAN-NM): описание клинического случая, подтвержденного мутацией в гене HINT1. National Medical Research Center of Children’s Health, Moscow, Russian Federation
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