A case of primary erythermalgia with encephalopathy

Sénéschal, Julien; Solé, Guilhem; Taı̈eb, Alain; Ferrer, Xavier

doi:10.1007/s00415-009-5188-1

Cited by 5 publications

(3 citation statements)

References 11 publications

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“…1,89 Sixty percent of children with SCN9A-positive IEM identified by systematic review, and 3 of 4 cases at our center, had significant peripheral tissue injury secondary to prolonged cold immersion or rubbing/scratching. Prolonged ice immersion and/or environmental cooling have been associated with severe hypothermia requiring intensive care; 40,70,74,75,79 skin injury with sepsis and significant morbidity; 3,31,48,90,91 and mortality. 49,55,61,90 The extent to which hypertension 50 and increased plasma or urine catecholamines 44,92 in pediatric IEM cases are secondary to uncontrolled pain and stress is difficult to determine.…”

Section: Discussionmentioning

confidence: 99%

“…2,6,16,33,50,56,[59][60][61][62][63][64][65][66][67][68] SCN9A-related IEM cases in adults reporting onset of symptoms before 18 years are also listed (Table 2B; online). 2,3,6,17,18,33,48,61,63,[69][70][71][72][73][74][75][76][77][78][79][80][81][82] Overall, pediatric onset IEM was associated with 24 different Na v 1.7 channel substitutions. As in the systematic review, additional cases reported major complications associated with excessive cooling or ice immersion: skin injury and sepsis resulting in amputations (p.L858F) 78 and mortality (p.F216S); 61,70 and severe hypothermia (p.L858F 78 ) with associated cerebral symptoms (p.I848T, 75 p.F216S 70 ) (Table 2B; online).…”

Section: Descriptive Synthesis Of Systematic Literature Reviewmentioning

confidence: 99%

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Pediatric Erythromelalgia and SCN9A Mutations: Systematic Review and Single-Center Case Series

Keen

Verriotis

et al. 2019

The Journal of Pediatrics

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Objectives. To evaluate the clinical features of erythromelalgia in childhood associated with gainof-function SCN9A mutations that increase activity of the Na v 1.7 voltage-gated sodium channel we: i) conducted a systematic review of pediatric presentations of erythromelalgia related to SCN9A mutations; and ii) compared pediatric clinical presentations of symptomatic erythromelalgia, with or without SCN9A mutations. Study Design PubMed, Embase, and PsycINFO Databases were searched for reports of IEM in childhood. Clinical features, management and genotype were extracted. Case notes of pediatric patients with erythromelalgia from the Great Ormond Street Hospital (GOSH) Pain Service were reviewed for clinical features, patient-reported outcomes and treatments. Children aged over 10 years were recruited for quantitative sensory testing (QST). Results Twenty-eight publications described erythromelalgia associated with 15 different SCN9A gene variants in 25 children. Pain was severe and often refractory to multiple treatments, including non-specific sodium channel blockers. Skin damage or other complications of cold immersion for symptomatic relief were common (60%). SCN9A mutations resulting in greater hyperpolarizing shifts in Na v 1.7 sodium channels correlated with symptom onset at younger ages (P=.016). Variability in reporting and potential publication bias towards severe cases limit any estimations of overall incidence. At GOSH, reported symptoms in both groups were similar but co-morbidities were more common in SCN9A-positive cases. QST revealed marked dynamic warm allodynia. Conclusions: IEM in children is associated with difficult-to-manage pain and significant morbidity. Standardized reporting of outcome and management in larger series will strengthen

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Section: Discussionmentioning

confidence: 99%

Section: Descriptive Synthesis Of Systematic Literature Reviewmentioning

confidence: 99%

Pediatric Erythromelalgia and SCN9A Mutations: Systematic Review and Single-Center Case Series

Keen

Verriotis

et al. 2019

The Journal of Pediatrics

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“…Although significant skin injury, as seen in this patient, has been reported in patients with IEM from aggressive cooling, the development of hypothermia is rare and its pathophysiological basis not understood [14][15][16] The overuse of cooling devices in our patient or the overuse of ice in the patient described by Seneschal et al likely contributed to the hypothermia (Solé, personal communication). 14 The father of this patient was reported to be persistently hypothermic, with usual temperature of 35°C (Solé, personal communication), raising the possibility of a generalised disorder of thermoregulation.…”

Section: Discussionmentioning

confidence: 74%

Between fire and ice: refractory hypothermia and warmth-induced pain in inherited erythromelalgia

Tham¹,

Effraim

et al. 2017

BMJ Case Reports

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SUMMARY 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.

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Sodium channel genes in pain-related disorders: phenotype–genotype associations and recommendations for clinical use

Waxman

Merkies

Gerrits

et al. 2014

The Lancet Neurology

159

133

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A case of primary erythermalgia with encephalopathy

Cited by 5 publications

References 11 publications

Pediatric Erythromelalgia and SCN9A Mutations: Systematic Review and Single-Center Case Series

Pediatric Erythromelalgia and SCN9A Mutations: Systematic Review and Single-Center Case Series

Between fire and ice: refractory hypothermia and warmth-induced pain in inherited erythromelalgia

Sodium channel genes in pain-related disorders: phenotype–genotype associations and recommendations for clinical use

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