Sleep-related periodic respiration with central sleep apnea in Leber Hereditary Optic Neuropathy (LHON).

摘要

Mitochondrial disorders (MD) have a variable and multisystemic clinical presentation. A 42-year-old man suffered loss of central vision at age 40 complicated by cerebral lesions on brain MRI (Fig. 1A). Neurological examination showed bilateral optic atrophy and generalised muscle wasting. Lactic acid after exercise was elevated (55 mg/dl; n.v. 5-22). Electromyography and nerve conduction study revealed neuromyotonia and peripheral motor neuropathy, but phrenic nerve conduction velocities were normal. An atrial sinus disease required pacemaker implantation and was associated with a mild hypertrophic cardiomyopathy without cardiac failure (85% ejection fraction at echographic investigation). Search for Leber Hereditary Optic Neuropathy (LHON) mtDNA mutations revealed the 3460/ND1 mutation.