RESUMEN
BACKGROUND: Post-traumatic cerebral infarction (PTCI) is common after traumatic brain injury (TBI). It is unclear what the occurrence of a PTCI is, how it impacts the long-term outcome, and whether it adds incremental prognostic value to established outcome predictors. METHODS: This was a prospective multicenter cohort study of moderate and severe TBI patients. The primary objective was to evaluate if PTCI was an independent risk factor for the 6-month outcome assessed with the Glasgow Outcome Scale (GOS). We also assessed the PTCI occurrence and if it adds incremental value to the International Mission for Prognosis and Clinical Trial design in TBI (IMPACT) core and extended models. RESULTS: We enrolled 143 patients, of whom 47 (32.9%) developed a PTCI. In the multiple ordered logistic regression, PTCI was retained in both the core and extended IMPACT models as an independent predictor of the GOS. The predictive performances increased significantly when PTCI was added to the IMPACT core model (AUC = 0.73, 95% C.I. 0.66-0.82; increased to AUC = 0.79, 95% CI 0.71-0.83, p = 0.0007) and extended model (AUC = 0.74, 95% C.I. 0.65-0.81 increased to AUC = 0.80, 95% C.I. 0.69-0.85; p = 0.00008). Patients with PTCI showed higher ICU mortality and 6-month mortality, whereas hospital mortality did not differ between the two groups. CONCLUSIONS: PTCI is a common complication in patients suffering from a moderate or severe TBI and is an independent risk factor for long-term disability. The addition of PTCI to the IMPACT core and extended predictive models significantly increased their performance in predicting the GOS. TRIAL REGISTRATION: The present study was registered in ClinicalTrial.gov with the ID number NCT02430324.
Asunto(s)
Lesiones Traumáticas del Encéfalo/complicaciones , Infarto Cerebral/etiología , Evaluación de Resultado en la Atención de Salud/normas , Adulto , Área Bajo la Curva , Lesiones Traumáticas del Encéfalo/epidemiología , Infarto Cerebral/epidemiología , Estudios de Cohortes , Femenino , Escala de Consecuencias de Glasgow/estadística & datos numéricos , Humanos , Italia/epidemiología , Modelos Logísticos , Masculino , Persona de Mediana Edad , Evaluación de Resultado en la Atención de Salud/estadística & datos numéricos , Estudios Prospectivos , Curva ROC , Estadísticas no ParamétricasRESUMEN
Posterior reversible encephalopathy (PRES) is a rare occurrence in patients with Guillain-Barré syndrome (GBS) with only nine adult cases reported to date. We conducted a review of the literature and compared previous cases with a novel case admitted to our clinic. In light of the timing of the symptoms, it is assumable that arterial hypertension can develop acutely during a phase of GBS-related autonomic dysfunction and subsequently precipitates PRES. According to this, dysautonomia caused by GBS could precede motor weakness; thus, PRES in the absence of any strong alternative etiology may suggest an underlying GBS.
Asunto(s)
Encefalopatías , Síndrome de Guillain-Barré , Hipertensión , Síndrome de Leucoencefalopatía Posterior , Instituciones de Atención Ambulatoria , Síndrome de Guillain-Barré/complicaciones , Síndrome de Guillain-Barré/diagnóstico , HumanosRESUMEN
We report a 9-year-old girl with hypotonia, severe motor delay, absent speech, and facial dysmorphism who developed acute encephalopathy with severe neurological outcome. Trio-based whole exome sequencing (WES) analysis detected a de novo heterozygous mutation in the BRAF gene leading to the diagnosis of an atypical presentation of cardiofaciocutaneous (CFC) syndrome. This is the second case of CFC syndrome complicated with acute encephalopathy reported in the literature and supports the hypothesis that acute encephalopathy might be one of the complications of the syndrome due to an intrinsic susceptibility to this acute event. The report furthermore highlights the role of WES in providing a fast diagnosis in patients in critical conditions with atypical presentation of rare genetic syndromes.
Asunto(s)
Genes ras , Estudios de Asociación Genética , Predisposición Genética a la Enfermedad , Mutación , Fenotipo , Proteínas Proto-Oncogénicas B-raf/genética , Encéfalo/anomalías , Encéfalo/diagnóstico por imagen , Niño , Hibridación Genómica Comparativa , Egipto , Electroencefalografía , Facies , Femenino , Estudios de Asociación Genética/métodos , Humanos , Cariotipificación , Imagen por Resonancia Magnética , Secuenciación del ExomaRESUMEN
BACKGROUND: Meningeal carcinomatosis is rare in patients with kidney cancer and treatment options are limited. Few patients treated with systemic approaches have been reported. We describe a case of complete remission of leptomeningeal metastasis in a patient with renal cell carcinoma treated with nivolumab. To our knowledge, this is the first report of nivolumab safety and efficacy in this particular site of metastasis. CASE PRESENTATION: Our patient was a 60-year-old Caucasian man with bone and lung metastases from renal cell carcinoma. He developed leptomeningeal metastasis and progression of bone and lung lesions after only 2 months of his first-line treatment. He was then treated with nivolumab in second-line setting and experienced a rapid improvement of cancer-related symptoms, complete remission of leptomeningeal and lung lesions, and increased bone mineral density in bone metastasis. The patient did not experience any drug-related toxicity. CONCLUSIONS: Meningeal carcinomatosis metastasis from renal cancer is a rare condition. Diagnosis is often challenging: the onset of nonspecific presenting symptoms could be initially attributed to bone involvement, side effects of oncologic therapy, or paraneoplastic syndromes. Our case suggests that nivolumab could be an effective and safe treatment option in patients with pretreated renal cancer with leptomeningeal metastasis.
Asunto(s)
Antineoplásicos Inmunológicos/uso terapéutico , Carcinoma de Células Renales/patología , Neoplasias Renales/patología , Neoplasias Meníngeas/tratamiento farmacológico , Neoplasias Meníngeas/secundario , Nivolumab/uso terapéutico , Antineoplásicos Inmunológicos/administración & dosificación , Antineoplásicos Inmunológicos/efectos adversos , Terapia Combinada , Humanos , Imagen por Resonancia Magnética , Masculino , Neoplasias Meníngeas/diagnóstico , Persona de Mediana Edad , Nivolumab/administración & dosificación , Nivolumab/efectos adversos , Tomografía Computarizada por Rayos X , Resultado del TratamientoRESUMEN
Cerebral venous and dural sinus thrombosis (CVDST) is a rare cause of stroke in young and middle-aged adults. When the clinical course is complicated by uncontrollable intracranial hypertension and brainstem compression due to edema or cerebral hemorrhage, the prognosis is poor. The authors evaluated the therapeutic role of surgical decompression in patients with clinical signs of impending herniation. Cerebral venous and dural sinus thrombosis complicated by impending brain herniation a very rare, life-threatening but potentially treatable clinical condition. Three patients with pupillary signs of transtentorial herniation due to brain edema and hemorrhage caused by CVDST (superior sagittal sinus in 1 patient and transverse and sigmoid sinus in 2 patients) were treated surgically. The intervention consisted of clot removal, infarcted tissue resection, and frontotemporoparietooccipital craniectomy with duraplasty. According to the Glasgow Outcome Scale, 2 patients were classified as having good recovery and 1, moderate disability. The results of neuropsychological assessment were normal in 2 patients and demonstrated a partial neuropsychological deficit (neglect) in the other. Surgery may be indicated in selected patients with CVDST whose condition is deteriorating because of intractable intracranial hypertension and impending brain herniation.
Asunto(s)
Craneotomía/métodos , Descompresión Quirúrgica/métodos , Hipertensión Intracraneal/cirugía , Trombosis de los Senos Intracraneales/cirugía , Adulto , Edema Encefálico/cirugía , Femenino , Estudios de Seguimiento , Humanos , Masculino , Persona de Mediana Edad , Resultado del TratamientoRESUMEN
We report on a patient who presented at our hospital with fever, headache, neck pain, partial nuchal rigidity and decreased vision of the left eye. The clinical history, biochemical and instrumental exams performed suggested meningitis but the final hypothesis achieved was an unusual case of Neuro-Behcet-Disease (NBD) without orogenital ulcerations at presentation and with normal MRI findings, whose course was complicated by fatal cerebral venous sinus thrombosis and intracranial haemorrhage. The post-mortem results confirmed the diagnosis. This is a rare case confirmed by anatomo-pathological findings where NBD can present itself as an acute meningeal syndrome that mimics central nervous system infections, making diagnosis difficult and delaying treatment.