Türkay YÜCEL, EMİNE AYSU ŞALVIZ, Deniz SARIARSLAN, Mehmet TER, Rauf Tuğrul AKSOY

Kabuki sendromlu hastada anestezi deneyimimiz

Kabuki sendromu (Kabuki make-up sendromu, Niikawa-Kuroki sendromu), çoklu konjenital malformasyon ve mental retardasyonla seyreden bir durumdur. Hastalık kraniofasial dismorfik bozukluklar, iskelet-kas anomalileri, dermatolojik anormallikler, gelişim geriliği, konjenital kalp defektleri, Urogenital bozukluklar, anorektal anomaliler, bilier atrezi, epilepsi, adenoid hipertrofi, rekürren otitis media, diafragma hernisi, eklem laksisitesi, dental anomaliler, yüksek damak, oftalmolojik anomaliler ve mental retardasyonla karakterizedir. Nadir karşılaşılan bu sendroma sahip olan hastaların anomalileri sebebi ile cerrahi gereksinimleri arttıkça anestezistlerin bu konudaki bilgi ve deneyimlerini artırmaları, hastaları detaylı anamnez ve fizik muayene ile değerlendirmeleri gerekmektedir. Olası zor havayolu, kardiovasküler ve Urogenital hastalıklar, iskelet-kas anomalileri ve epilepsi anestezi riskini artırmaktadır. Biz, bu vaka sunumu ile inguinal herni ve Ankiloglossi sebebi ile öpere olan 5 yaşındaki Kabuki sendromlu kız olguda uyguladığımız başarılı anestezi deneyimimizi, nadir rastlanan bu sendromu hatırlatmak için paylaşmayı amaçladık.

An anesthesia experience of a pediatric patient with kabuki syndrome

Kabuki syndrome (Kabuki make-up syndrome, Niikawa-Kuroki syndrome) is a multiple malformation and mental retardation condition. It is characterized by distinctive facial features, musculosceletal anomalies, dermatoglyphic abnormalities, growth retardation, congenital heart defects, renallgenitourinary anomalies, anorectal anomalies, biliary atresia, epilepsia, adenoid hypertrophy, recurrent otitis media, diaphragmatic hernia, joint laxity, Cental anomalies, high-arched palate, ophthalmologic abnormalities and mental retardation. Although this syndrome is rare, the surgical requirements of these patients increase because of their abnormalities. Therefore, anesthetists should improve their knowledge and skills, and also evaluate the patients with detailed anamnesis and physical examination. Possible difficult airway, cardiovascular, genitourinary, musculosceletal anomalies and epilepsia may raise the risk of anesthesia. The objective of this report was to describe a case of successful anesthesia experience in a 5-years-old girl patient with Kabuki syndrome, who had under gone inguinal hernia and ankyloglossia operations, and we also aimed to remind this rare syndrome with this case.

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