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Published on: March 8, 2022
Anaesthetic management of an infant with MEGD(H)EL syndrome undergoing cochlear implant
1Lecturer of Anaesthesia and Surgical Intensive Care, Faculty of Medicine, Port Said University, Port Fuad, Egypt. dr_nashwa_2008@yahoo.com.
Insights
Anesthetic management for MEGD(H)EL syndrome, a rare genetic disorder, is discussed. Dexmedetomidine and ketamine offer safe procedural sedation for high-risk patients undergoing surgery.
Area of Science:
- Medical Genetics
- Anesthesiology
- Rare Diseases
Background:
- MEGD(H)EL syndrome is a rare genetic disorder caused by SERAC1 gene mutations.
- It presents with 3-methylglutaconic aciduria, deafness, encephalopathy, and Leigh-like syndrome, potentially with hepatopathy.
- The condition shares metabolic pathway disruptions with other inborn errors of metabolism.
Observation:
- This case report details the anesthetic management of a 2-year-old infant with MEGD(H)EL syndrome undergoing cochlear implantation.
- The discussion covers the unique pathology and genetic basis of this sporadic disease relevant to anesthesiologists.
Findings:
- Dexmedetomidine may serve as a beneficial, non-triggering anesthetic agent for patients with mitochondrial diseases.
- A combination of dexmedetomidine and ketamine provides effective procedural sedation.
- This combination is particularly suitable for high-risk pediatric patients with complex comorbidities.
Implications:
- Safe anesthetic strategies are crucial for patients with rare genetic syndromes like MEGD(H)EL.
- Understanding the specific anesthetic needs of these patients can improve perioperative outcomes.
- This approach may guide anesthetic choices for other rare metabolic disorders with similar anesthetic challenges.
Background:
The syndrome has these features: 3-methylglutaconic aciduria (MEG), deafness(D), encephalopathy (E), Leigh-like syndrome (L). This disorder is caused by biallelic mutations in serine active site-containing protein 1 (SERAC1) gene. When these patients experience hepatopathy (H) in addition to the above manifestations, the syndrome is referred to as MEGD(H)EL. The pathology of this syndrome shares features with diverse types of inborn errors of metabolism.
Case Presentation:
We discussed the anaesthetic management of an infant 2-year-old suffering from MEGD(H)EL syndrome undergoing cochlear implant. We discuss the pathology, genetics and significant aspects of this sporadic disease which is important for anaesthesiologist.
Conclusions:
The usage of dexmedetomidine as the main anaesthetic drug might have the benefit of a non-triggering anaesthetic agent in patients with a mitochondrial disease. Mixture of dexmedetomidine and ketamine provide an effective combination for procedural sedation, predominantly in select populations who are at a high risk of perioperative complications due to underlying co-morbid conditions.
