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Anaesthetic considerations in the child with Menkes' syndrome
1Division of Pediatric Anesthesiology/Critical Care Medicine, Vanderbilt University, Nashville, Tennessee.
Insights
Menkes
Area of Science:
- Anesthesiology
- Pediatric Anesthesia
- Medical Genetics
Background:
- Menkes' syndrome is an X-linked recessive disorder affecting copper metabolism.
- Copper deficiency leads to multi-organ system dysfunction, particularly impacting the central nervous system.
- Affected children often require anesthesia for surgical procedures and diagnostic imaging.
Observation:
- A four-month-old infant with Menkes' syndrome necessitated a tracheostomy.
- Key anesthetic concerns include seizure disorders, aspiration risk from gastroesophageal reflux, and airway instability due to poor pharyngeal muscle control.
- Potential for connective tissue abnormalities, similar to Ehlers-Danlos syndrome, exists.
Findings:
- Menkes' syndrome presents significant anesthetic challenges in pediatric patients.
- Preoperative identification of associated conditions is crucial for safe anesthetic management.
- Specific risks include neurological, gastrointestinal, and airway complications.
Implications:
- Anesthesiologists must be aware of the systemic effects of Menkes' syndrome.
- Comprehensive preoperative assessments are vital for planning safe anesthesia.
- Tailored anesthetic strategies can mitigate risks in these complex pediatric cases.
Abstract:
The author presents and discusses the anaesthetic implications of a four-month-old infant with Menkes' syndrome who required tracheostomy. Menkes' syndrome is an X-linked recessive disorder of copper absorption and metabolism. Defective processing of copper results in abnormalities of several enzyme systems leading to severe dysfunction of multiple organ systems. Due to the progressive nature of this disorder and its severe effects on several different organ systems, most importantly the central nervous system, these children frequently require anaesthetic care during imaging procedures such as MRI or during various surgical operations. The high prevalence of seizure disorders, gastroesophageal reflux with the risk of aspiration, and airway complications related to poor pharyngeal muscle control are of concern to the anaesthetist. In addition, defective collagen formation, similar to that seen in Ehlers-Danlos syndrome, may be present. Identification of these associated conditions during the preoperative examination will guide the selection of appropriate, safe anaesthetic care for these children.