Clinical, pathological and radiological survey of patients with Leigh syndrome.

Aim: The aim of this study was to evaluate the clinical, pathological and radiological survey of patients affected by Leigh syndrome.
Methods: Eleven patients with Leigh disease were evaluated at Dokuz Eylül University, School of Medicine, Department of Pediatric Neurology. All patients underwent neurological evaluation with detailed medical and family history. Muscle biopsy from quadriceps muscle, brain magnetic resonance imaging and brain magnetic spectroscopy were obtained.
Results: The patients were aged between 1 month and 8 years (mean age: 2.29+/-2.58 years). The most common presentation findings were psychomotor retardation and acute metabolic encephalopathy. All patients had elevated lactate in the blood and/or cerebrospinal fluid. Except in two patients, brain magnetic resonance imaging revealed abnormal symmetrical lesions in the brainstem and basal ganglia. Brain magnetic resonance spectroscopy revealed abnormal lactate peak in all patients. The muscle biopsy of two patients showed cytocrom-c oxidase deficiency and measurement of respiratory chain complex in one patient revealed complex I and IV deficiency. One patient was found to carry mitochondrial T8993C mutation.
Conclusions: There are no specific markers for Leigh disease which lead to extensive work-up. The disease should be considered in patients who present progressive neurologic symptoms involving brainstem and basal ganglia.