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Journals / Türkiye Sağlık Bilimleri ve Araştırmaları Dergisi / 2022 / Cilt: 5 - Sayı: 3

General anesthesia experience in a patient with Kabuki Make-Up syndrome

Kabuki Make-Up Sendromlu Hastada Genel Anestezi Uygulaması

Harun OZMEN
Bahar AYDINLI
Serkan DOGRU
Serdar MERMER
Pages
81–87
Publication Date
2022-12-29
DOI
—
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

Considering the young age of patients and the possibility of repeated anesthesia, good premedication and postoperative analgesia should be provided and they should leave the hospital with a positive anesthesia experience.

📌 3 Key Takeaways

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Objective & Hypothesis:Aim: Kabuki Make-up Syndrome is inherited in an autosomal dominant manner and no mutation can be detected in 25% of cases.
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Key Findings & Data:There was minimal mental retardation in our patient, who was diagnosed with diaphragmatic hernia in the neonatal period, had a typical facial appearance accompanied by ptosis in the left eye, and was operated for joint laxity.
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Conclusion & Impact:Considering the young age of patients and the possibility of repeated anesthesia, good premedication and postoperative analgesia should be provided and they should leave the hospital with a positive anesthesia experience.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:anestezi · hidrosel · Kabuki Make-up sendromu

Abstract

Aim: Kabuki Make-up Syndrome is inherited in an autosomal dominant manner and no mutation can be detected in 25% of cases. The syndrome complicates anesthesia with malformations involving many systems, especially the cardiovascular and skeletal systems. There was minimal mental retardation in our patient, who was diagnosed with diaphragmatic hernia in the neonatal period, had a typical facial appearance accompanied by ptosis in the left eye, and was operated for joint laxity. In our case, we aimed tos hare our anesthesia experience in our patient with Kabuki make-up syndrome.Method: In our 6-year-old patient with Kabuki make-up syndrome, who was admitted due to anxisted hydrocele and phimosis, we completed the surgical procedure without complications with succesful premedication and general anethesia.Results: In our case, we applied general anesthesia with narcotic-assisted inhalation anesthesia using alaryngeal mask without muscle relaxants and endotracheal intubation. Conclusion: Considering the high risk of upper airway obstruction, intubation difficulty and malign hyperthermia risks in these patients, diffucult intubation equipment and energency drug support should be ready. Considering the young age of patients and the possibility of repeated anesthesia, good premedication and postoperative analgesia should be provided and they should leave the hospital with a positive anesthesia experience.

Özet

Amaç: Kabuki make-up sendromu otozomal dominant kalıtılır, %25 olguda mutasyon saptanmayabilir. Sendrom başta kardiyovasküler, iskelet sistemi olmak üzere pek çok sistemi ilgilendiren malformasyonlarla anesteziyi komplike hale getirmektedir Yenidoğan döneminde diyafragma hernisi tesbit edilmiş, eklem laksisitesi nedeni ile opere edilmiş, sol gözde pitozisin eşlik ettiği tipik yüz görünümlü hastamızda minimal mental retardasyon mevcuttu. KMS’li hastamızda anestezi deneyimimizi paylaşmayı amaçladık.Yöntem: Ankiste hidrosel, fimozis nedeniyle başvuran 6 yaşındaki Kabuki make-up sendromlu hastamızda cerrahi süreci başarılı premedikasyon, genel anestezi uygulaması ile komplikasyonsuz olarak tamamladıkBulgular: Olgumuzda kas gevşeticisiz ve endotrakeal entübasyon uygulamadan, laringeal maske kullanarak, narkotik destekli inhalasyon anestezisi ile genel anestezi uyguladık. Sonuç: Bu hastalarda görülme riski yüksek üst solunum yolu obstrüksiyonu, entübasyon zorluğu, malign hipertermi riskleri göz önünde bulundurularak zor entübasyon ekipmanları, acil ilaç desteği hazır olmalıdır. Hastaların küçük yaşta olması, mükerrer anestezi alabileceği göz önünde bulundurularak iyi premedikasyon, postoperatif analjezi sağlanarak olumlu anestezi deneyimi ile hastaneden ayrılmaları sağlanmalıdır

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Cite This Article

OZMEN, H., AYDINLI, B., DOGRU, S., MERMER, S. (2022). General anesthesia experience in a patient with Kabuki Make-Up syndrome. Türkiye Sağlık Bilimleri ve Araştırmaları Dergisi, Cilt: 5 - Sayı: 3, 81–87. https://ajindex.com/articles/865407

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References (1)

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