Anesthetic Management for Dental Treatment in a Child with MRD20

Abstract

  Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations (MIM613443, MRD20) is a rare genetic disorder caused by haploinsufficiency of the MEF2C gene. MRD20 is caused by a mutation in the MEF2C gene or microdeletions in the 5q14.3 region, where the MEF2C gene resides. This genetic disease is characterized by micrognathia, a short neck, intellectual disability, and hypotonia. Also, cardiac malformations are observed in some cases. Anesthetic management requires consideration of the airway, presence of cardiac malformations, and intellectual disability. Here, we report a case of general anesthesia for dental treatment in a patient with MRD20.

  The patient was a 5-year-old female (height, 107 cm ; weight, 19.5 kg), who had been diagnosed as having MRD20. She had an atrial septal defect, pulmonary artery stenosis, and borderline obesity (Rhorer index 159) in addition to micrognathia, a short neck, and intellectual disability. We scheduled an intensive dental treatment under general anesthesia because of poor cooperation for dental treatment and extensive dental caries.

  A slow induction was used to reduce excitement, combined with oxygen, nitrous oxide, and sevoflurane. A laryngoscopy was somewhat difficult because of poor neck extension and a relatively large tongue. We maintained the general anesthesia using propofol and remifentanil to avoid the emergence of excitement. Intraoperatively, we also kept the end-tidal partial pressure of carbon dioxide low to reduce pulmonary vascular resistance.

  In conclusion, for the safe management of patients with MRD20, adequate preparations for difficult airway management arising from micrognathia and a short neck must be made, in addition to considering heart malformation and intellectual disability.