Abstract
BackgroundMaternal 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 presentationsShe 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.ConclusionsWe speculate that the craniofacial deformity in case of UPD(14)mat patients may lead to difficulty in tracheal intubation.
Highlights
Maternal uniparental disomy 14 (UPD(14)mat) is an imprinting disorder
We speculate that the craniofacial deformity in case of Uniparental disomy (UPD)(14)mat patients may lead to difficulty in tracheal intubation
It has been reported that less than 40 % of patients with UPD(14)mat have scoliosis [5], and general anesthesia is necessary for the correction surgery
Summary
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. Conclusions: We speculate that the craniofacial deformity in case of UPD(14)mat patients may lead to difficulty in tracheal intubation. Clinical features of UPD(14)mat include pre- and postnatal growth retardation, neonatal hypotonia, small hands and feet, feeding difficulty, and precocious puberty [1]. There are no reports about anesthetic management for a patient with UPD(14)mat.
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