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Title: An atypical case of SCN9A mutation presenting with global motor delay and a severe pain disorder.

Authors: Inge Anita Meijer, Michel Vanasse, Sonia Nizard, Yves Robitaille, Elsa Rossignol

Journal, date & volume: Muscle Nerve, 2014 Jan , 49, 134-8

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/23893323

Abstract
Erythromelalgia due to heterozygous gain-of-function SCN9A mutations usually presents as a pure sensory-autonomic disorder characterized by recurrent episodes of burning pain and redness of the extremities.We describe a patient with an unusual phenotypic presentation of gross motor delay, childhood-onset erythromelalgia, extreme visceral pain episodes, hypesthesia, and self-mutilation. The investigation of the patient's motor delay included various biochemical analyses, a comparative genomic hybridization array (CGH), electromyogram (EMG), and muscle biopsy. Once erythromelalgia was suspected clinically, the SCN9A gene was sequenced.The EMG, CGH, and biochemical tests were negative. The biopsy showed an axonal neuropathy and neurogenic atrophy. Sequencing of SCN9A revealed a heterozygous missense mutation in exon 7; p.I234T.This is a case of global motor delay and erythromelalgia associated with SCN9A. The motor delay may be attributed to the extreme pain episodes or to a developmental perturbation of proprioceptive inputs.