Inherited erythromelalgia (IEM) is a well-described pain disorder caused by mutations of sodium channel Nav1.7, a peripheral channel expressed within dorsal root ganglion and the sympathetic ganglion neurons. Clinically, IEM is characterised by paroxysmal attacks of severe pain, usually in the distal extremities, triggered by warmth or exercise. Pain is not adequately treated by existing pharmacological agents. Individuals with IEM classically cool their limbs for relief, in some cases resulting in tissue injury. We describe a patient from a family with IEM due to the L858F mutation of Nav1.7 who presented with refractory hypothermia due to overcooling. This presentation of refractory hypothermia necessitating warming strategies, complicated by severe warmth-induced pain, posed a substantial therapeutic challenge. We report our experience in overcoming hypothermia lasting 3 weeks in a child with IEM, discuss possible pathophysiological mechanisms underlying this unusual complication and suggest potential therapeutic interventions.
- pain (neurology)
- peripheral nerve disease
- paediatric intensive care
Statistics from Altmetric.com
Contributors All authors concur with the submitted version of the manuscript. All authors contributed to the work presented in this paper. SWT and LL collected the data. SWT, LL, PE and SW wrote and edited the manuscript.
Funding ST was supported by Seattle Children's Research Institute Mentored Scientist Award. SGW was supported by grants from the Rehabilitation Research Service and Biomedical Research Service and from The Erythromelalgia Association. The Center for Neuroscience and Regeneration Research is a Collaboration between the Paralyzed Veterans of America and Yale University.
Competing interests None declared.
Patient consent Obtained from guardian.
Provenance and peer review Not commissioned; externally peer reviewed.
If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.