AN ATYPICAL CASE OF SCN9A MUTATION PRESENTING WITH GLOBAL MOTOR DELAY AND A SEVERE PAIN DISORDER

作者：Meijer Inge Anita; Vanasse Michel; Nizard Sonia; Robitaille Yves; Rossignol Elsa^*

来源：Muscle & Nerve, 2014, 49(1): 134-138.

DOI：10.1002/mus.23968

• axonal neuropathy
• developmental delay
• erythromelalgia
• Nav1
• 7
• pain
• SCN9A

Introduction: 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. Methods: 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. Results: 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. Conclusions: 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. Muscle Nerve49: 134-138, 2014

• 出版日期2014-1