Beckwith-Wiedemann综合征患者的麻醉管理：病例汇报与文献复习

doi:10.3969/j.issn.1009-976X.2020.03.017

摘要/Abstract

摘要： 目的探讨Beckwith-Wiedemann综合征（BWS）患者的麻醉管理。方法本文报道了1例行腹股沟疝和脐膨出修补术的Beckwith-Wiedemann综合征患儿的麻醉管理,并对相关文献进行复习。结果经充分术前评估,收集患儿病史并排除困难气道、低血糖等风险后,经静脉诱导后顺利置入气管导管并在静吸复合全麻下完成手术;术后清醒拔管,无低氧血症和低血糖等不良事件发生。结论巨舌所致困难气道、低血糖等是BWS患者麻醉管理所面临的主要问题。麻醉医师应充分评估病情从而制定适当的麻醉管理方案。

关键词: Beckwith-Wiedemann综合征, 低血糖, 麻醉, 困难气道

Abstract: Objective To investigate the anesthesia management of Beckwith-Wiedemann syndrome. Methods The anesthesia management of a child with Beckwith-Wiedemann syndrome was retrospectively analyzed,and the related literatures were reviewed. Results After sufficient preoperative systemic evaluation,knowing the patient's history and confirming the risks such as difficult airway and hypoglycaemia, an intravenous induction and intubation were succeed and the operation was successfully completed under combined intravenous and inhalation anesthesia. The patient recovered well after operation. Conclusion Difficult airway caused by macroglossia and hypoglycaemia are the main problems in BWS anesthesia management. Anesthesiologists should fully understand these problems and make appropriate preoperative evaluation of BWS patients so as to formulate appropriate anesthesia management plan.

Key words: hypoglycaemia, Beckwith-Wiedemann syndrome, difficult airway, anesthesia

中图分类号:

R614

杨淑婷, 彭玉璇, 杜素娟, 叶西就. Beckwith-Wiedemann综合征患者的麻醉管理：病例汇报与文献复习[J]. 岭南现代临床外科, 2020, 20(03): 341-345.

YANG Shu-ting, PENG Yu-xuan, DU Su-juan, YE Xi-jiu.. Anesthesia management of Beckwith-Wiedemann syndrome：a case report and review of literatures[J]. Lingnan Modern Clinics in Surgery, 2020, 20(03): 341-345.

参考文献

[1] Kim Y, Shibutani T, Hirota Y, et al.Anesthetic considerations of two sisters with Beckwith-Wiedemann syndrome[J]. Anesth Prog, 1996, 43(1): 24-28.
[2] Tobias JD, Lowe S, Holcomb GW 3rd. Anesthetic considerations of an infant with Beckwith-Wiedemann syndrome[J]. J Clin Anesth, 1992, 4(6): 484-486.
[3] Batra M, Valecha UK.Anesthetic management of tongue reduction in a case of Beckwith-Wiedemann syndrome[J]. J Anaesthesiol Clin Pharmacol, 2014, 30(4): 562-564.
[4] Suan C, Ojeda R, García-Perla JL, et al.Anaesthesia and the Beckwith-Wiedemann syndrome[J]. Paediatr Anaesth, 1996, 6(3): 231-233.
[5] Celiker V, Basgul E, Karagoz AH.Anesthesia in Beckwith-Wiedemann syndrome[J]. Paediatr Anaesth, 2004, 14(9): 778-780.
[6] Channabasapa SM, Pradeep SH, Dharmapa S, et al.Anesthetic management of a neonate with Beckwith-Wiedemann syndrome posted for repair of exomphalos[J]. Saudi J Anaesth, 2016, 10(2):249-250.
[7] Henry I, Jeanpierre M, Couillin P, et al.Molecular definition of the 11p15.5 region involved in Beckwith-Wiedemann syndrome and probably in predisposition to adrenocortical carcinoma[J]. Hum Genet, 1989, 81(3):273-277.
[8] Wilkin F, Gagné N, Paquette J, et al.Pediatric adrenocortical tumors: molecular events leading to insulin-like growth factor II gene overexpression[J]. J Clin Endocrinol Metab, 2000, 85(5):2048-2056.
[9] Mussa A, Russo S, De Crescenzo A, et al.Prevalence of Beckwith-Wiedemann syndrome in north west of Italy[J]. Am J Med Genet A, 2013, 161A(10):2481-2486.
[10] Barisic I, Boban L, Akhmedzhanova D, et al.Beckwith Wiedemann syndrome: a population-based study on prevalence, prenatal diagnosis, associated anomalies and survival in Europe[J]. EurJ Med Genet, 2018, 61(9):499-507.
[11] Mussa A, Molinatto C, Cerrato F, et al.Assisted reproductive techniques and risk of Beckwith-Wiedemann syndrome[J]. Pediatrics, 2017, 140(1): e20164311
[12] Cortessis VK, Azadian M, Buxbaum J, et al.Comprehensive meta-analysis reveals association between multiple imprinting disorders and conception by assisted reproductive technology[J]. J Assist Reprod Genet, 2018, 35(6):943-952.
[13] Brioude F, Kalish JM, Mussa A, et al.Expert consensus document: clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement[J]. Nat Rev Endocrinol, 2018, 14(4):229-249.
[14] Weksberg R, Shuman C, Beckwith JB.Beckwith-Wiedemann syndrome[J]. Eur J Human Genet, 2010, 18(1):8-14.
[15] Smith AC, Shuman C, Chitayat D, et al.Severe presentation of Beckwith-Wiedemann syndrome associated with high levels of constitutional paternal uniparental disomy for chromosome 11p15[J]. Am J Med Genet A, 2007, 143A(24):3010-3015.
[16] Brioude F, Lacoste A, Netchine I, et al.Beckwith-Wiedemann syndrome: growth pattern and tumor risk according to molecular mechanism, and guidelines for tumor surveillance[J]. Horm Res Paediatr, 2013, 80(6):457-465.
[17] Mussa A, Molinatto C, Baldassarre G, et al. Cancer risk in Beckwith-Wiedemann syndrome: a systematic review and meta-analysis outlining a novel (Epi)genotype specific histotype targeted screening protocol [J]. J Pediatr, 2016, 176:142-149.e1.
[18] Maas SM, Vansenne F, Kadouch DJM, et al.Phenotype, cancer risk, and surveillance in Beckwith-Wiedemann syndrome depending on molecular genetic subgroups[J]. Am J Med Genet A, 2016, 170(9):2248-2260.
[19] Porteus MH, Narkool P, Neuberg D, et al.Characteristics and outcome of children with Beckwith-Wiedemann syndrome and Wilms' tumor: a report from the National Wilms Tumor Study Group[J]. J Clin Oncol, 2000, 18(10):2026-2031.
[20] Dehner LP, Hill DA.Adrenal cortical neoplasms in children: why so many carcinomas and yet so many survivors?[J]. Pediatr Dev Pathol, 2009, 12(4):284-291.
[21] Kamata S, Kamiyama M, Sawai T, et al.Assessment of obstructive apnea by using polysomnography and surgical treatment in patients with Beckwith-Wiedemann syndrome[J]. J Pediatr Surg, 2005, 40(3):E17-E19.
[22] Yao W, Wang B.Can tongue thickness measured by ultrasonography predict difficult tracheal intubation?[J]. Br J Anaesth, 2017, 118(4):601-609.
[23] Motoyama EK.Tracheal intubation. In: Motoyama EK, Davis PJ (eds). Smith's anesthesia for infants and children, 5th Edn[M]. CV Mosby, St Louis, 1990: 272-275.
[24] Khine HH, Corddry DH, Kettrick RG, et al.Comparison of cuffed and uncuffed endotracheal tubes in young children during general anesthesia[J]. Anesthesiology, 1997, 86(3):627-27A.
[25] Altun D, Orhan-Sungur M, Ali A, et al.The role of ultrasound in appropriate endotracheal tube size selection in pediatric patients[J]. Paediatr Anaesth, 2017, 27(10):1015-1020.
[26] Okutani R, Arima Y, Oda Y.Anesthetic management in a child with Rolland-Desbuquois type dyssegmental dysplasia[J]. J Clin Anesth, 2014, 26(8):676-678.
[27] Joshua Eaton, Roberto Atiles, Jay B.Tuchman. GlideScope for management of the difficult airway in a child with Beckwith-Wiedemann syndrome[J]. Pediatric Anesthesia, 2009, 19(7):696-698.
[28] Priebe HJ.Should anesthesiologists have to confirm effective facemask ventilation before administering the muscle relaxant[J]?J Anesth, 2016, 30(1):132-137.
[29] Walas W, Aleksandrowicz D, Borszewska-Kornacka M, et al.Unanticipated difficult airway management in children-the consensus statement of the PaediatricAnaesthesiology and Intensive Care Section and the Airway Management Section of the Polish Society of Anaesthesiology and Intensive Therapy and the Polish So[J]. Anaesthesiol Intensive Ther, 2017, 49(5):336-349.
[30] Frerk C, Mitchell VS, McNarry AF, et al. Difficult Airway Society 2015 guidelines for management of unanticipated difficult intubation in adults[J]. Br J Anaesth, 2015, 115(6):827-848.
[31] Tsukamoto M, Hitosugi T, Yokoyama T.Perioperative airway management of a patient with Beckwith-Wiedemann syndrome[J]. J Dent Anesth Pain Med, 2016, 16(4):313-316.
[33] 邱小汕, 邵肖梅, 叶鸿瑁. 实用新生儿学[M]. 北京:人民卫生出版社, 2013: 755-728.