Cockayne syndrome is an autosomal recessive multi-systemic disorder due to DNA repair failure. It was originally described in 1936 in children of small stature, retinal atrophy and deafness, characterized by dwarfism, cachexia, photosensitivity, premature aging and neurologic deficits. The most typical feature is described as birdlike facies: protruding maxilla, facial lipoatrophy, sunken eyes, large ears and thin nose.
View Article and Find Full Text PDFBackground: Brain tumor surgery near or within eloquent regions is increasingly common and is associated with a high risk of neurologic injury. Awake craniotomy with mapping has been shown to be a valid method to preserve neurologic function and increase the extent of resection. However, the technique used varies greatly among centers.
View Article and Find Full Text PDFReports focusing on biomedical principlism and the role of anaesthesiologists in palliative care are rare. We present the case of a newborn with multiple craniofacial anomalies and a diagnosis of ADAM "sequence," in which surgical removal of placental adhesions to the dura mater and the correction of meningocele was not indicated due to the very short life expectancy. After 48 hours, the odor from the placenta indicted a necrotic process, which prevented the parents from being close to the child and increased his isolation.
View Article and Find Full Text PDFAortic coarctation is a discrete narrowing of the proximal thoracic aorta. It is poorly tolerated during pregnancy because of its association with hypertension, cerebrovascular accident, and aortic rupture. We report a case of severe uncorrected congenital aortic coarctation in a 31-year-old symptomatic pregnant woman at 29 weeks of gestation who underwent successful cesarean delivery with an epidural anesthetic technique.
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