RESUMO
Hereditary spastic paraplegias (HSP) are a rare heterogeneous group of inherited neurodegenerative diseases characterized by progressive lower extremity spasticity and weakness. Mutations of the kinesin family member 5A (KIF5A) gene lead to a spectrum of phenotypes ranging from spastic paraplegia type 10 to Charcot-Marie Tooth Disease type 2. We report the second known case of a mutation in the KIF5A gene at c.610C>T presenting with HSP plus an axonal sensorimotor neuropathy.
RESUMO
The nervous system can be significantly affected by cancer. Neurologic symptoms are present in 30% to 50% of oncologic patients presenting to the emergency department or in neurologic consultation at teaching hospitals. Evaluation and treatment require collaborative effort between specialties. The causes of neurologic emergencies in patients with cancer are mostly related to effects of cancer, toxicities of treatments, infections, and paraneoplastic syndromes. These complications cause significant morbidity and mortality and require prompt and accurate diagnostic and treatment measures. This article reviews the common neurologic emergencies affecting patients with cancer and discusses epidemiology, clinical presentation, diagnosis, and treatment modalities.
Assuntos
Encefalopatias/diagnóstico , Encefalopatias/terapia , Neoplasias/complicações , Encefalopatias/complicações , Emergências , HumanosRESUMO
Pregnancy is associated with impaired T-cell-mediated immunity putting the woman at risk for infectious diseases not typically seen in immunocompetent individuals. When maternal infection is severe, and when a primary herpesvirus infection is acquired during pregnancy, there is a risk of fetal loss, maternal death, neonatal death, or congenital abnormalities from intrauterine infection. In this review, the authors emphasize specific neurologic infectious diseases that occur in pregnancy, the safety of the antimicrobial therapy of these diseases during pregnancy, as well as the congenital and neonatal sequelae of infection.