Abstract Details

Title An Atypical Case of an SCN9A Mutation with Global Motor Delay and Erythromelalgia

Topic Child Neurology/Developmental Neurobiology

Presentation(s) IN1 - (-)

Poster/Presentation
Number 010

Objective

Background Erythromelalgia is characterized by recurrent episodes of burning pain and redness of the extremities and is caused by heterozygote gain-of-function mutations in the SCN9A gene, coding for the NAv1.7 channel. It usually presents as a pure sensory-autonomic disorder. We describe a patient with an SCN9A mutation and an usual phenotypic presentation of gross motor delay, childhood-onset erythromelalgia, extreme visceral pain episodes, followed by hypoesthesia and automutilation.

Design/Methods The investigation of the patient's motor delay included various biochemical analyses, an EMG, a muscle biopsy, and a quantitative PCR of SMN1. Once erythromelalgia was suspected, the SCN9A gene was sequenced. Sequential therapeutic trials of amitriptyline, gabapentin, carbamazepine and mexiletine were attempted.

Results The EMG, CGH, EEG and metabolic tests were negative. The sural nerve biopsy showed an axonal neuropathy, whereas the muscle biopsy showed signs of neurogenic atrophy. Sequencing of the SCN9A gene revealed a heterozygote missense mutation in exon 7; p.I234T.

Conclusions We present the first case of global motor delay and erythromelalgia associated with an SCN9A mutation. The gross motor delay might be attributed to the extreme pain episodes or to a developmental perturbation of sensory-motor integration.

Authors/Disclosures
Inge Meijer, MD, PhD (CHU Sainte Justine) PRESENTER	Dr. Meijer has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Allergan. Dr. Meijer has received intellectual property interests from a discovery or technology relating to health care.
	No disclosure on file
	No disclosure on file
Yves Robitaille, MD, FCAP (CHU Ste-Justine, Dept. of Pathology)	No disclosure on file
Elsa Rossignol, MD (Hopital Ste-Justine)	No disclosure on file
Bianca Weinstock-Guttman, MD (Department of Neurology, University At Buffalo)	Dr. Weinstock-Guttman has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Biogen. Dr. Weinstock-Guttman has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Genentech. Dr. Weinstock-Guttman has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Novartis . Dr. Weinstock-Guttman has received personal compensation in the range of $500-$4,999 for serving as a Consultant for EMD Serono. Dr. Weinstock-Guttman has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Abbvie. Dr. Weinstock-Guttman has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Genzyme &Sanofi. Dr. Weinstock-Guttman has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Janssen . Dr. Weinstock-Guttman has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Bayer. Dr. Weinstock-Guttman has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Horizon. Dr. Weinstock-Guttman has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Genentech. Dr. Weinstock-Guttman has received personal compensation in the range of $0-$499 for serving on a Scientific Advisory or Data Safety Monitoring board for Novartis. Dr. Weinstock-Guttman has received personal compensation in the range of $5,000-$9,999 for serving on a Speakers Bureau for Biogen. Dr. Weinstock-Guttman has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Janssen. Dr. Weinstock-Guttman has received personal compensation in the range of $0-$499 for serving as a Reviewer with NIH.

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