Brain Disorders (Dec 2022)
A case of chronic progressive external ophthalmoplegia presenting with central neurogenic hyperventilation
Abstract
We report a female patient with typical chronic progressive external ophthalmoplegia (CPEO) presented with central neurogenic hyperventilation (CNH), which is characterized by sustained hyperventilation during awake and sleep. CNH is usually caused by brain stem lesions. While her brain MRI was unremarkable, brain magnetic resonance spectroscopy revealed an increased lactate level in the frontal lobe, suggesting abnormal mitochondrial respiration. CPEO mainly presents a progressive weakness in extraocular muscles and rarely presents neurological symptoms, while abnormal respiration, including tachypnea, is relatively common in other mitochondrial disorders, such as Leigh syndrome, in which the apparent abnormal brain lesions were observed. These mitochondrial disorders, including CPEO, share the same mitochondrial gene mutations. This case illustrates the clinical heterogeneity of mitochondrial disorders.
