A Case of Mitochondrial Myopathy and Cleft Palate

Abstract 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 emerge...