Background:
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.
Case presentations:
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 McGRATHR MAC videolaryngoscope to overcome this problem.
Conclusions:
We speculate that the craniofacial deformity in case of UPD(14)mat patients may lead to difficulty in tracheal intubation.