RESUMEN
PURPOSE: Neurophysiologic intraoperative monitoring (NIOM) abnormalities during scoliosis surgery led to a diagnosis of Friedreich's ataxia in this illustrative case. This prompted the retrospective examination of NIOM for pediatric scoliosis surgery in polyneuropathy patients. METHODS: Among patients who underwent scoliosis surgery in 2010-2017, there were six polyneuropathy patients identified. Their clinical history and baseline NIOM data were reviewed. RESULTS: Scoliosis accompanied Charcot-Marie-Tooth disease, Friedreich's ataxia, and ataxia telangiectasia. Some patients with no recorded somatosensory evoked potentials (SEPs) exhibited motor evoked potentials (MEPs); no patients with absent MEPs had SEPs present. NIOM modifications included SEP stimulation rate; type of SEP electrodes used; train parameters for MEP acquisition; and sweep speed. CONCLUSIONS: This sample of NIOM data for previously monitored scoliosis cases in children with polyneuropathy allowed investigation of patterns of findings and troubleshooting attempts to optimize monitoring. Attentiveness to pertinent medical history prepared the NIOM team to change typical recording parameters based on underlying polyneuropathy. A multimodality approach provided useful information as several of these cases would have been unmonitorable with use of SEPs alone. As for the case described, the awareness of NIOM patterns in polyneuropathy may guide evaluations of patients with presumed idiopathic scoliosis who have unrecognized polyneuropathy.
Asunto(s)
Polineuropatías , Escoliosis , Niño , Potenciales Evocados Motores , Potenciales Evocados Somatosensoriales , Humanos , Monitoreo Intraoperatorio , Polineuropatías/complicaciones , Polineuropatías/diagnóstico , Estudios Retrospectivos , Escoliosis/cirugíaRESUMEN
INTRODUCTION: X-linked Charcot-Marie-Tooth (CMT1X) disease is caused by mutations in the GJB1 gene. We describe a young man who presented with recurrent central nervous symptoms and transient white matter changes in the setting of a novel mutation in the GJB1 gene. METHODS: Evaluation included clinical examination, neuroimaging, electrophysiological, and molecular genetic studies. RESULTS: Clinical examination on 2 admissions 5 years apart demonstrated hemiparesis with findings of underlying peripheral neuropathy. Electrophysiologic studies revealed a sensorimotor polyneuropathy. MRI studies from both admissions revealed white matter changes, with improvement on an intervening study. Mutation analysis showed a novel mutation (c.98T>A; p.Ile33Asn) in the GJB1 gene. CONCLUSIONS: Mutations in GJB1 can result in recurrent central nervous system symptoms with transient white matter signal changes on MRI. In patients presenting with hemiparesis, the presence of signs of a peripheral neuropathy may facilitate identification of CMT1X, and is likely to affect clinical management.
Asunto(s)
Sistema Nervioso Central/patología , Enfermedad de Charcot-Marie-Tooth/patología , Fibras Nerviosas Mielínicas/patología , Enfermedad de Charcot-Marie-Tooth/genética , Niño , Conexinas/genética , Humanos , Imagen por Resonancia Magnética , Masculino , Mutación/genética , Conducción Nerviosa/genética , Conducción Nerviosa/fisiología , Nervios Periféricos/fisiopatología , Proteína beta1 de Unión ComunicanteRESUMEN
Conjoined twins occur in up to 1 in 50,000 live births with approximately 18% joined in a pygopagus configuration at the buttocks. Twins with this configuration display symptoms and carry surgical risks during separation related to the extent of their connection which can include anorectal, genitourinary, vertebral, and neural structures. Neurophysiologic intraoperative monitoring for these cases has been discussed in the literature with variable utility. The authors present a case of pygopagus twins with fused spinal cords and imperforate anus where the use of neurophysiologic intraoperative monitoring significantly impacted surgical decision-making in division of these critical structures.