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[Anesthetic management of an infant with Menkes disease]
M Sugimoto1, K Shindo, K Shingu
1Department of Anesthesia, Kyoto University Hospital.
Abstract:
Menkes disease is a rare, sex-linked recessive disorder characterized by kinky hair, convulsion, mental retardation, bone and connective tissue lesions, and hypothermia. These symptoms have been attributed to suppression of copper-dependent enzymes resulting from copper deficiency. We report a case of a 7-month-old infant with Menkes disease who underwent repair of inguinal hernia. Anesthesia was maintained with sevoflurane-N2O-O2, and the operation was carried out uneventfully. Although the patient had been medicated with anticonvulsants preoperatively, transient seizure occurred in the recovery room. We also discuss pathophysiology and anesthetic management of a patient with Menkes disease.
Insights
Menkes disease, a rare genetic disorder causing copper deficiency, presents unique challenges for anesthesia. This case highlights uneventful surgery but notes a transient seizure post-operation, emphasizing careful anesthetic management.
Area of Science:
- Medical Genetics
- Pediatric Anesthesiology
- Metabolic Disorders
Background:
- Menkes disease is a rare X-linked recessive disorder impacting copper metabolism.
- It leads to deficiencies in copper-dependent enzymes, causing neurological and connective tissue abnormalities.
- Symptoms include kinky hair, developmental delay, and hypothermia.
Observation:
- A 7-month-old infant diagnosed with Menkes disease underwent inguinal hernia repair.
- Anesthesia was successfully maintained using sevoflurane, nitrous oxide, and oxygen.
- The surgical procedure itself was uneventful.
Findings:
- Despite preoperative anticonvulsant medication, the patient experienced a transient seizure in the recovery room.
- This suggests potential anesthetic implications for patients with Menkes disease.
- Copper deficiency's role in neurological function and anesthetic response is critical.
Implications:
- Anesthetic management for patients with Menkes disease requires careful consideration of their underlying pathophysiology.
- Monitoring for neurological events, such as seizures, is crucial in the postoperative period.
- Further research into anesthetic protocols for rare genetic disorders like Menkes disease is warranted.