RESUMEN
INTRODUCTION: Patients with variants in the GNAO1 gene may present with life-threatening dystonic storm. There is little experience using pallidal deep brain stimulation (DBS) as an emergency treatment in such cases. CASE DESCRIPTION: We report on a 16-year-old girl with a variant in the GNAO1 gene (c.626G > T; p.(Arg209Leu)) who was admitted to the intensive care unit with medically refractory dystonic storm with secondary complications inducing rhabdomyolysis and acute colitis. Emergency pallidal DBS resulted in rapid improvement of dystonic storm and the subsidence of rhabdomyolysis and colitis. There were no further episodes of dystonic storm during follow-up of 2 years. CONCLUSION: Pallidal DBS is a useful treatment option for GNAO1-related dystonic storm with secondary complications which can be performed as an emergency surgery.
Asunto(s)
Colitis , Estimulación Encefálica Profunda , Trastornos Distónicos , Rabdomiólisis , Adolescente , Colitis/complicaciones , Colitis/cirugía , Estimulación Encefálica Profunda/métodos , Trastornos Distónicos/terapia , Femenino , Subunidades alfa de la Proteína de Unión al GTP Gi-Go/genética , Globo Pálido , Humanos , Rabdomiólisis/complicaciones , Resultado del TratamientoRESUMEN
BACKGROUND: Emergency placement of an external ventricular drain (EVD) is one of the most frequently performed neurosurgical procedures. EVD-related infection continues to be a major challenge causing significant morbidity and costs. Bundle approaches have been shown to reduce infection rates; however, they are still not widely used, and observation periods often were rather short. METHODS: The present study evaluated the effect of a multi-item bundle approach for EVD placement and care on the occurrence of EVD-related infection. A before/after approach was used to compare groups of consecutive patients over 5-year epochs to control for bias and secondary confounding variables. RESULTS: The number of patients in the group before implementation of the bundle approach was 141 and 208 thereafter. There were no statistical differences in demographic and other variables. While 41/141 patients (29.1%) had an EVD-related infection before, this was the case in only 10/208 patients (4.8%) thereafter (p < 0.0001). The EVD-related infection rate was reduced from 13.7/1000 catheter days to 3.2/1000, and the 50% probability of an EVD-related infection in correlation to the mean duration of EVD placement was significantly lower (p < 0.0001). Routine EVD replacement was not helpful to reduce EVD-related infection. EVD-related infection rates remained low also over the next 8 years after the study was finished. CONCLUSIONS: The introduction of a multi-item bundle approach for EVD insertion and care resulted in a marked reduction of EVD-related infection. Long observation periods over 5 years and beyond confirm that short-term changes are sustained with continued use of such protocols.