Anesthesia For A Child With Menkes Syndrome

Ölbeci Ö., İnal D. G., Erdağ T. K., Öçmen E.

Asian Society of Paediatric Anaesthesiologists “ASPA 2022”, İstanbul, Türkiye, 14 - 16 Ekim 2022, ss.201

  • Yayın Türü: Bildiri / Özet Bildiri
  • Basıldığı Şehir: İstanbul
  • Basıldığı Ülke: Türkiye
  • Sayfa Sayıları: ss.201
  • Dokuz Eylül Üniversitesi Adresli: Evet

Özet

Anesthesia for a child with Menkes syndrome

Purpose/aim: Menkes syndrome is an X-linked recessively inherited neurodegenerative genetic disease with copper excretion defect due to mutation in the ATP7A gene. The symptoms of the disease are hypotonia, hypothermia, feeding difficulties, epileptic seizures, dysmorphic facial structure, mental and motor retardation. We presented our anesthetic management in a case of Menkes syndrome.

Case presentation: The patient was 7-year-old male, weighing 23 kg, with a normal vaginal delivery history with a birth weight of 2850 gr from a 25-year-old mother. There was no history of anesthesia except for a PEG insertion. The patient had intercostal and suprasternal recessions in the preoperative period. Patient was admitted in operating room with a 26 G vascular access. Intravenous 1 mg midazolam was administered for sedation. Standard monitoring was applied, including axillary temperature. Anesthesia was induced with sevoflurane while maintaining the patient's spontaneous breathing. He was intubated with a 5.0 mm reinforced endotracheal tube with assistance of video laryngoscopy without the use of muscle relaxant. A total of 15 mg of rocuronium was administered throughout the tracheostomy procedure. A second vascular access was attempted but could not be succeeded. The tracheostomy procedure was performed properly and the patient was transported to the pediatric intensive care unit without any complication.

Discussion/Conclusion: Difficult vascular access and difficult airway due to micrognathia and subglottic stenosis can be encountered in Menkes syndrome. It is recommended that the vascular access should be obtained before the induction of general anesthesia in these patients. Since epileptic seizures are common in Menkes syndrome, more attention should be paid to postoperative seizure activity. In this group of patients, predisposition to hypothermia also requires close body temperature monitoring. In these patients, problems such as recurrent aspirations and anticipation of a difficult venous access and hypothermia requires meticulous precautions.