Case Report
PDF Mendeley EndNote BibTex Cite

Mulvihill-Smith sedromunda anestezi yönetimi

Year 2022, Volume 61, Issue 1, 118 - 121, 15.03.2022
https://doi.org/10.19161/etd.1086285

Abstract

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.

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.

Anesthetic management in Mulvihill-Smith syndrome

Year 2022, Volume 61, Issue 1, 118 - 121, 15.03.2022
https://doi.org/10.19161/etd.1086285

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.

Details

Primary Language Turkish
Subjects Health Care Sciences and Services
Journal Section Case Reports
Authors

Tuba KUVVET YOLDAŞ This is me (Primary Author)
Ege Üniversitesi, Ege Tıp Fakültesi Anesteziyoloji ve Reanimasyon Anabilim Dalı, İzmir, Türkiye
0000-0001-5567-6313
Türkiye


Canan BOR This is me
Ege Üniversitesi, Ege Tıp Fakültesi Anesteziyoloji ve Reanimasyon Anabilim Dalı, İzmir, Türkiye
0000-0001-7658-2113
Türkiye

Publication Date March 15, 2022
Application Date March 23, 2021
Acceptance Date August 21, 2021
Published in Issue Year 2022, Volume 61, Issue 1

Cite

Vancouver Kuvvet Yoldaş T. , Bor C. Mulvihill-Smith sedromunda anestezi yönetimi. Ege Tıp Dergisi. 2022; 61(1): 118-121.