Abstract
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.
References
- Yagihashi T, Kato M, Izumi K, Kosaki R, Yago K, et al. Case report: adult phenotype of Mulvihill-Smith syndrome. Am J Med Genet A. 2009; 149A: 496–500.
- Bartsch O, Tympner KD, Schwinger E, Gorlin RJ. Mulvihill-Smith syndrome: case report and review. J Med Genet. 1994; 31 (9): 707–711.
- Passarelli PF, Cerroni L, Condo R, Mancini M, D’Addona A. Orofacial signs and dental abnormalities in patients with Mulvihill–Smith syndrome A literature review on this rare progeroid pathology. Medicine. 2018; 97: 18.
- Stevic M, Simic D, Milojevic I. Anesthesia in a child with Mulvihill–Smith syndrome. J Anesth. 2014; 28: 313.
- Menna R, Arancibias C. The Hutchinson–Gilford progeria syndrome: a case report. Minerva Anestesiol. 2010; 76: 151–4.
- Kuribayashi J, Yamada T, Morisaki H, Takeda J. Anesthetic management of a patient with Mulvihill-Smith syndrome. Masui. 2007; 56 (7): 835-7.
- Desborough JP. The stress response to trauma and surgery. Br J Anaesth. 2000; 85: 109-17.
- Erden V, Basaranoglu G, Delatioglu H, Hamzaoglu NS. Relationship of difficult laryngoscopy to long-term non-insulin-dependent diyabetes and hand abnormality detected using the “prayer sign. Br J Anaesth. 2003; 91: 159-60.
- American Diabetes Association. 15. Diyabetes Care in the Hospital: Standards of Medical Care in Diyabetes2019. Diyabetes Care 2019; 42: 173- 81.
Abstract
Mulvihill-Smith sendromu, sistem ve organ tutulumu olan nadir görülen bir genetik bozukluktur. Akraba evliliğinden doğan çocuklarda kadın-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 yönetiminde zor havayolu, glisemik instabilite ve hastaların geriatrik 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.
References
- Yagihashi T, Kato M, Izumi K, Kosaki R, Yago K, et al. Case report: adult phenotype of Mulvihill-Smith syndrome. Am J Med Genet A. 2009; 149A: 496–500.
- Bartsch O, Tympner KD, Schwinger E, Gorlin RJ. Mulvihill-Smith syndrome: case report and review. J Med Genet. 1994; 31 (9): 707–711.
- Passarelli PF, Cerroni L, Condo R, Mancini M, D’Addona A. Orofacial signs and dental abnormalities in patients with Mulvihill–Smith syndrome A literature review on this rare progeroid pathology. Medicine. 2018; 97: 18.
- Stevic M, Simic D, Milojevic I. Anesthesia in a child with Mulvihill–Smith syndrome. J Anesth. 2014; 28: 313.
- Menna R, Arancibias C. The Hutchinson–Gilford progeria syndrome: a case report. Minerva Anestesiol. 2010; 76: 151–4.
- Kuribayashi J, Yamada T, Morisaki H, Takeda J. Anesthetic management of a patient with Mulvihill-Smith syndrome. Masui. 2007; 56 (7): 835-7.
- Desborough JP. The stress response to trauma and surgery. Br J Anaesth. 2000; 85: 109-17.
- Erden V, Basaranoglu G, Delatioglu H, Hamzaoglu NS. Relationship of difficult laryngoscopy to long-term non-insulin-dependent diyabetes and hand abnormality detected using the “prayer sign. Br J Anaesth. 2003; 91: 159-60.
- American Diabetes Association. 15. Diyabetes Care in the Hospital: Standards of Medical Care in Diyabetes2019. Diyabetes Care 2019; 42: 173- 81.
Details
| Primary Language | Turkish |
|---|---|
| Subjects | Health Care Administration |
| Journal Section | Case Reports |
| Authors | |
| Publication Date | March 15, 2022 |
| Submission Date | March 23, 2021 |
| Published in Issue | Year 2022 |