• Inge Anita Meijer, Michel Vanasse, Sonia Nizard, Yves Robitaille, and Elsa Rossignol.
• Pediatrics Department, Pediatric Neurology Division, CHU Sainte Justine, Montréal, Quebec, Canada.
• Muscle Nerve. 2014 Jan 1; 49 (1): 134-8.

IntroductionErythromelalgia 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.MethodsWe 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.ResultsThe 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.ConclusionsThis 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.Copyright © 2013 Wiley Periodicals, Inc.

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