An atypical case of SCN9A mutation presenting with global motor delay and a severe pain disorder.
Muscle Nerve
; 49(1): 134-8, 2014 Jan.
Article
em En
| MEDLINE
| ID: mdl-23893323
ABSTRACT
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.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Transtornos Somatoformes
/
Índice de Gravidade de Doença
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Transtornos das Habilidades Motoras
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Mutação de Sentido Incorreto
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Canal de Sódio Disparado por Voltagem NAV1.7
Limite:
Child, preschool
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Female
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Humans
Idioma:
En
Ano de publicação:
2014
Tipo de documento:
Article