Auditory Brainstem Response in Leigh's Syndrome

Abstract Leigh's syndrome is a clinically heterogeneous disorder with a variety of biochemical bases. It is classified as one type of the mitochondrial encepha‐lomyopathies (MEMs). Serial auditory brainstem responses (ABRs) in eight patients with clinically diagnosed Leigh's syndrome are reported. Abnormalities of ABRs were detected in the early stages of the disease in all patients. Severely abnormal wave configuration associated with prolonged wave latency was detected in patients with apnea and/or other symptomatology involving the brainstem. Patients with cortical involvement had markedly abnormal ABRs in which only waves I and/or V were present. In those patients whose clinical symptoms were less severe, the ABR was mildly abnormal. Changes in the ABR did not consistently reflect clinical exacerbations and remissions. ABRs were useful in the classification of Leigh's syndrome and in judging the severity of the disease process. ABRs can be used as a supplementary diagnostic procedure in Leigh's syndrome.