A case of mitochondrial myopathy and cleft palate
Joseph A Franklin1, Janice F Lalikos, William A Wooden
1Division of Plastic Surgery, Coleman School of Medicine at The University of Tennessee, Memphis, Tennessee, USA.
Insights
This case report details a child with mitochondrial myopathy and cleft palate, highlighting severe postoperative complications and anesthetic risks in dual diagnoses. This rare combination underscores the need for careful perioperative management.
Area of Science:
- Pediatric Medicine
- Genetics
- Anesthesiology
Background:
- Mitochondrial myopathies are rare genetic disorders affecting muscle energy production.
- Cleft palate is a common congenital anomaly requiring surgical intervention.
- Dual diagnosis of mitochondrial myopathy and cleft palate presents unique medical challenges.
Observation:
- A preterm infant with cleft palate and multiple anomalies, including hypotonia, was evaluated.
- The infant experienced severe respiratory compromise and cardiac arrest post-palatoplasty.
- Postmortem examination confirmed mitochondrial myopathy and dilated cardiomyopathy.
Findings:
- The patient exhibited an extreme adverse reaction to anesthetic agents, leading to cardiac arrest.
- Postoperative complications included apnea, respiratory failure, and sepsis.
- Muscle biopsy and autopsy findings were consistent with mitochondrial myopathy.
Implications:
- Patients with mitochondrial myopathies are at high risk for perioperative complications, including fatal anesthetic reactions.
- Multidisciplinary care and specialized anesthetic protocols are crucial for managing these complex cases.
- This case emphasizes the importance of early diagnosis and genetic counseling for mitochondrial disorders.
Objective:
To present a child born with both mitochondrial myopathy and cleft palate, outlining medical complications of this dual diagnosis-the first reported case in English literature.
Methods:
A preterm Caucasian boy presented to the cleft palate clinic at birth for evaluation of a secondary cleft palate. Multiple anomalies were also identified, including rib fusions, ventricular septal dyskinesis, and mild hypotonia. Initial chromosome studies were unremarkable.
Results:
After a multidisciplinary preoperative clearance at 11 months old, the infant underwent palatoplasty and muscle biopsy for evaluation of hypotonia. Upon extubation, he became apneic and unresponsive to anticholinesterase reversals. He was reintubated. The next morning, he was extubated uneventfully and was discharged home on postoperative day 2 (POD2). On POD7, he returned with signs of bronchitis, thereby prompting immediate reevaluation and treatment by his primary pediatrician. On POD13, he presented to an outlying emergency department with cyanosis and poor respiratory drive. Before intubation, he received a depolarizing muscle relaxation; cardiac arrest ensued and resuscitation was unsuccessful. Pathology from the muscle biopsy and postmortem examination ultimately supported mitochondrial myopathy with dilated cardiomyopathy.
Conclusion:
Mitochondrial myopathies are rare disorders suspected in patients demonstrating developmental delays, hypotonia, cardiomyopathy, conduction system defects, or genetic mutations. In these patients, postoperative complications can be lethal, especially when compounded (e.g., anesthetic drug reactions, respiratory compromise, surgical stress, and postoperative infections). General discussion and specific recommendations are provided.
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