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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. Difficult airway management with subglottic stenosis and risk of gastric content aspiration has been described. Although the clinical characteristics of Cockayne syndrome have been well described in pediatric publications, there is only one report in the literature on anesthesia for an obstetric patient. We report the case of a pregnant patient diagnosed with Cockayne syndrome, submitted successfully to spinal anesthesia for a cesarean section due to cephalopelvic disproportion. In view of the difficult decision between inducing general anesthesia in a patient with a likely difficult airway, or neuraxial anesthesia in a patient with cardiovascular, respiratory and neurocognitive limitations, we suggest tailored management to reach the best results for the mother and newborn.

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RESUMEN

Abstract 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. Difficult airway management with subglottic stenosis and risk of gastric content aspiration has been described. Although the clinical characteristics of Cockayne syndrome have been well described in pediatric publications, there is only one report in the literature on anesthesia for an obstetric patient. We report the case of a pregnant patient diagnosed with Cockayne syndrome, submitted successfully to spinal anesthesia for a cesarean section due to cephalopelvic disproportion. In view of the difficult decision between inducing general anesthesia in a patient with a likely difficult airway, or neuraxial anesthesia in a patient with cardiovascular, respiratory and neurocognitive limitations, we suggest tailored management to reach the best results for the mother and newborn.

Resumo A síndrome de Cockayne é doença multissistêmica autossômica recessiva devido à falha no reparo do DNA. Originalmente descrita em 1936 em crianças com baixa estatura, atrofia retiniana e surdez, é caracterizada por nanismo, caquexia, fotossensibilidade, envelhecimento acelerado e déficits neurológicos. O mais típico é a fácies, descrita como similar à de um pássaro: maxila proeminente, atrofia do coxim adiposo bucal, olhos profundos, orelhas grandes e nariz fino. Tem sido descrita dificuldade no manejo da via aérea com estreitamento subglótico e risco de aspiração gástrica. Embora as características clínicas da síndrome de Cockayne sejam bem relatadas em publicações pediátricas, há apenas um relato de anestesia em paciente obstétrica na literatura. Relatamos o caso de gestante com diagnóstico de síndrome de Cockayne, submetida com sucesso a raquianestesia para parto cesariano por desproporção cefalopélvica. Diante da difícil decisão entre induzir anestesia geral em paciente com provável via aérea difícil ou anestesia neuroaxial, em meio a limitações cardiovasculares, respiratórias e neurocognitivas da paciente, conduta individualizada é sugerida para alcançar os melhores resultados para a gestante e o neonato.

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Reports 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. Urgent surgery was performed, after which the newborn was transported to the ICU and intubated under controlled mechanical ventilation. The patient died a week later. The principles of beneficence, nonmaleficence, justice, and respect for autonomy are simultaneously an inspiratory and regulatory framework for clinical practice. Although only necessary procedures are defended, which suggests a position contrary to invasive interventions at the end of life, sometimes they are the best palliative measures that can be taken in cases like the one described here.

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Aortic 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. Transthoracic echocardiography showed a gradient of 75 mm Hg. To avoid undiagnosed arterial hypotension and inadequate uteroplacental flow distal to the coarctation, double (radial and femoral) invasive arterial blood pressure measurement was used to monitor both pre- and postcoarctation arterial blood pressure.

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