Mulvihill-Smith sedromunda anestezi yönetimi

Mulvihill-Smith sendromu, sistem ve organ tutulumu olan nadir görülen genetik bir bozukluktur. Akraba evliliğinden doğan çocuklarda ve hem kadın hem de erkek cinsiyette görülmesi otozomal resesif kalıtımı düşündürür. Bu sendromda yaşlı yüz görünümü tipik olması yanında kısa boy, mikrosefali, yüz ve gövdede multipl nevuslar, yüksek-tiz ses, hipertelorizm, genital anomaliler, görme kusuru, diyabet, tekrarlayan enfeksiyonlar, immun yetmezlik, işitme azlığı, tümör gelişimi (mide, dil, pankreas ve melanom), hipodonti, orofasiyal-dental anormallikler ve mental retardasyon görülen bulgulardandır. Anestezi yönetimi; zor havayolu, glisemik instabilite ve hastaların geriyatrik hasta grubunda kabul edilmeleri açısından önemlidir. Literatürde oldukça az sayıda anestezi deneyimi sunulmuş olgu sunumları mevcuttur. Bu nedenle; Mulvihill-Smith sendromu tanılı 17 yaş kadın hastamızda uyguladığımız anestezi yönetimini sunmayı amaçladık.

Anesthetic management in Mulvihill-Smith syndrome

Mulvihill-Smith syndrome is a rare and complex genetic disorder which involves different system and organ. The description of a patient born to consanguineous parents and the presence of the syndrome in both males and females, suggests of autosomal recessive inheritance. This syndrome is characterized with senile face. The signs and symptoms are include short stature, microcephaly, multiple pigmented nevi, loud and raucous voice, hypertelorism, genital anomalies, visual change, diabetes, recurrent infections, immune deficit, deafness, tumor development (gastric, tongue, pancreas and melanoma), hipodonty, intellectual disability, and orofacial-dental abnormalities. Anesthesia management is important; because of difficult airway, glycemic instability and acceptance of this patients in the geriatric patient group. There are very few anesthesia experience in MSS. Therefore; we presented the anesthesia management in a 17-year-old female patient with Mulvihill-Smith syndrome.

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