Severe neurological complications of hereditary erythermalgia

Miséry, Laurent; Greco, M; Fleuret, C.; Firmin, David; Mocquard, Yves; A, Renault; Am, Roguedas

doi:10.1111/j.1468-3083.2007.02265.x

Cited by 5 publications

(4 citation statements)

References 10 publications

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“…To date, the pathomechanism of this erythermalgiaassociated encephalopathy remains obscure. Two cases of primary erythermalgia associated with encephalopathy have been reported previously [6,9]. One of these [9] was very similar to ours: a 15-year-old boy who developed hypothermia, somnolence, and ataxic gait.…”

Section: Sirssupporting

confidence: 75%

A case of primary erythermalgia with encephalopathy

et al. 2009

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Section: Sirssupporting

confidence: 75%

A case of primary erythermalgia with encephalopathy

et al. 2009

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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%

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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“…Na v 1.7-specific blockers are being studied as potential therapies for pain, with the rationale that they would be expected to have few, if any, CNS-related side-effects. Nevertheless, there have been reports of hypothermia, possibly due to an abnormality of central (hypothalamic) thermoregulation [16–18] in patients with Na v 1.7 mutations and erythromelalgia. The syndrome of inappropriate release of antidiuretic hormone, SIADH, without any structural cause, recently developed in a patient carrying a gain-of-function mutation of Na v 1.7, G856D, within a kindred with painful small-fiber neuropathy (Hoeijmakers et al, personal communication).…”

Section: Introductionmentioning

confidence: 99%

Na_v1.7: Stress-Induced Changes in Immunoreactivity within Magnocellular Neurosecretory Neurons of the Supraoptic Nucleus

et al. 2013

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BackgroundNaV1.7 is preferentially expressed, at relatively high levels, in peripheral neurons, and is often referred to as a “peripheral” sodium channel, and NaV1.7-specific blockers are under study as potential pain therapeutics which might be expected to have minimal CNS side effects. However, occasional reports of patients with NaV1.7 gain-of-function mutations and apparent hypothalamic dysfunction have appeared. The two sodium channels previously studied within the rat hypothalamic supraoptic nucleus, NaV1.2 and NaV1.6, display up-regulated expression in response to osmotic stress.ResultsHere we show that NaV1.7 is present within vasopressin-producing neurons and oxytocin-producing neurons within the rat hypothalamus, and demonstrate that the level of Nav1.7 immunoreactivity is increased in these cells in response to osmotic stress.ConclusionsNaV1.7 is present within neurosecretory neurons of rat supraoptic nucleus, where the level of immunoreactivity is dynamic, increasing in response to osmotic stress. Whether NaV1.7 levels are up-regulated within the human hypothalamus in response to environmental factors or stress, and whether NaV1.7 plays a functional role in human hypothalamus, is not yet known. Until these questions are resolved, the present findings suggest the need for careful assessment of hypothalamic function in patients with NaV1.7 mutations, especially when subjected to stress, and for monitoring of hypothalamic function as NaV1.7 blocking agents are studied.

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Severe neurological complications of hereditary erythermalgia

Cited by 5 publications

References 10 publications

A case of primary erythermalgia with encephalopathy

A case of primary erythermalgia with encephalopathy

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

Na_v1.7: Stress-Induced Changes in Immunoreactivity within Magnocellular Neurosecretory Neurons of the Supraoptic Nucleus

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Severe neurological complications of hereditary erythermalgia

Cited by 5 publications

References 10 publications

A case of primary erythermalgia with encephalopathy

A case of primary erythermalgia with encephalopathy

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

Nav1.7: Stress-Induced Changes in Immunoreactivity within Magnocellular Neurosecretory Neurons of the Supraoptic Nucleus

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Na_v1.7: Stress-Induced Changes in Immunoreactivity within Magnocellular Neurosecretory Neurons of the Supraoptic Nucleus