Furutani Kenta, Kodera Yoshie, Hiruma Masataka, Ishii Hideaki, Baba Hiroshi
Division of Anesthesiology, Niigata University Medical and Dental Sciences, 1-757 Asahimachi-Dori, Chuo-ku, Niigata 951-8510 Japan.
JA Clin Rep. 2016;2(1):25. doi: 10.1186/s40981-016-0051-8. Epub 2016 Sep 26.
Maternal uniparental disomy 14 (UPD(14)mat) is an imprinting disorder. It is a rare disease, but there is the possibility that more undiagnosed patients might exist because the clinical features of UPD(14)mat resemble those of the Prader-Willi syndrome or other congenital diseases. We performed anesthetic management for an 8-year-old girl with UPD(14)mat.
She was admitted to undergo correction surgery due to symptomatic scoliosis. Preoperative examination revealed that she had a restricted mouth opening and retrognathia, as well as some typical characteristics of UPD(14)mat, such as small hands, growth retardation, and precocious puberty. We induced general anesthesia using sevoflurane without any problems. However, the tracheal intubation was difficult because of the restricted mouth opening. We used the McGRATH MAC videolaryngoscope to overcome this problem.
We speculate that the craniofacial deformity in case of UPD(14)mat patients may lead to difficulty in tracheal intubation.
母源性单亲二倍体14（UPD(14)mat）是一种印记紊乱疾病。它是一种罕见病，但由于UPD(14)mat的临床特征与普拉德-威利综合征或其他先天性疾病相似，可能存在更多未被诊断的患者。我们对一名患有UPD(14)mat的8岁女孩进行了麻醉管理。
她因症状性脊柱侧弯入院接受矫正手术。术前检查发现她存在张口受限和小颌畸形，以及一些UPD(14)mat的典型特征，如小手、生长发育迟缓及性早熟。我们使用七氟烷诱导全身麻醉，未出现任何问题。然而，由于张口受限，气管插管困难。我们使用麦格拉思MAC视频喉镜克服了这一问题。
我们推测，UPD(14)mat患者的颅面畸形可能导致气管插管困难。
