Anesthesia for a cesarean section on a pregnant patient with Cockayne syndrome: case report
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 typi...
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| Format: | Article |
| Language: | English |
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Elsevier
2020-01-01
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| Series: | Brazilian Journal of Anesthesiology |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S0104001420300063 |
| _version_ | 1811236292070998016 |
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| author | Viviane Barrada Ribeiro Leonardo Teixeira Ribeiro Alonso de Faria Roberta de Lima Machado Bruno Mendonça Barcellos Marco Antonio Cardoso de Resende Rogério Luiz da Rocha Videira |
| author_facet | Viviane Barrada Ribeiro Leonardo Teixeira Ribeiro Alonso de Faria Roberta de Lima Machado Bruno Mendonça Barcellos Marco Antonio Cardoso de Resende Rogério Luiz da Rocha Videira |
| author_sort | Viviane Barrada Ribeiro |
| collection | DOAJ |
| description | 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 de 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. |
| first_indexed | 2024-04-12T12:06:33Z |
| format | Article |
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| institution | Directory Open Access Journal |
| issn | 0104-0014 |
| language | English |
| last_indexed | 2024-04-12T12:06:33Z |
| publishDate | 2020-01-01 |
| publisher | Elsevier |
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| series | Brazilian Journal of Anesthesiology |
| spelling | doaj.art-24419d7ae3af495893ce6fdfb7c5f5b42022-12-22T03:33:41ZengElsevierBrazilian Journal of Anesthesiology0104-00142020-01-017015154Anesthesia for a cesarean section on a pregnant patient with Cockayne syndrome: case reportViviane Barrada Ribeiro0Leonardo Teixeira Ribeiro Alonso de Faria1Roberta de Lima Machado2Bruno Mendonça Barcellos3Marco Antonio Cardoso de Resende4Rogério Luiz da Rocha Videira5Universidade Federal Fluminense (UFF), Hospital Universitário Antônio Pedro, Niterói, RJ, BrazilUniversidade Federal Fluminense (UFF), Hospital Universitário Antônio Pedro, Niterói, RJ, BrazilUniversidade Federal Fluminense (UFF), Hospital Universitário Antônio Pedro, Niterói, RJ, BrazilUniversidade Federal Fluminense (UFF), Hospital Universitário Antônio Pedro, Niterói, RJ, BrazilUniversidade Federal Fluminense (UFF), Hospital Universitário Antônio Pedro, Niterói, RJ, BrazilCorresponding author.; Universidade Federal Fluminense (UFF), Hospital Universitário Antônio Pedro, Niterói, RJ, BrazilCockayne 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 de 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.http://www.sciencedirect.com/science/article/pii/S0104001420300063Síndrome de CockayneVia aérea difícilAnestesia obstétricaGravidezProgeria |
| spellingShingle | Viviane Barrada Ribeiro Leonardo Teixeira Ribeiro Alonso de Faria Roberta de Lima Machado Bruno Mendonça Barcellos Marco Antonio Cardoso de Resende Rogério Luiz da Rocha Videira Anesthesia for a cesarean section on a pregnant patient with Cockayne syndrome: case report Brazilian Journal of Anesthesiology Síndrome de Cockayne Via aérea difícil Anestesia obstétrica Gravidez Progeria |
| title | Anesthesia for a cesarean section on a pregnant patient with Cockayne syndrome: case report |
| title_full | Anesthesia for a cesarean section on a pregnant patient with Cockayne syndrome: case report |
| title_fullStr | Anesthesia for a cesarean section on a pregnant patient with Cockayne syndrome: case report |
| title_full_unstemmed | Anesthesia for a cesarean section on a pregnant patient with Cockayne syndrome: case report |
| title_short | Anesthesia for a cesarean section on a pregnant patient with Cockayne syndrome: case report |
| title_sort | anesthesia for a cesarean section on a pregnant patient with cockayne syndrome case report |
| topic | Síndrome de Cockayne Via aérea difícil Anestesia obstétrica Gravidez Progeria |
| url | http://www.sciencedirect.com/science/article/pii/S0104001420300063 |
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