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.

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.

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.

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.