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

Muscle & nerve (2013-07-31)
Inge Anita Meijer, Michel Vanasse, Sonia Nizard, Yves Robitaille, Elsa Rossignol
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.

MATERIALS
Product Number
Brand
Product Description

Sigma-Aldrich
Carbamazepine, powder
Supelco
Carbamazepine, Pharmaceutical Secondary Standard; Certified Reference Material
Supelco
Carbamazepine solution, 1.0 mg/mL in methanol, ampule of 1 mL, certified reference material, Cerilliant®
Sigma-Aldrich
Carbamazepine, meets USP testing specifications