All issues > Volume 41(3); 1998

Case Report

J Korean Pediatr Soc. 1998;41(3):405-409. Published online March 15, 1998.

Two Cases of Leigh Disease

Seong Hun SH Kim¹, Soo En SE Park¹, Ju Seok JS Lee¹, Sang Ook SO Nam¹, Yeong Tak YT Lim¹

¹Department of Pediatrics, P usan National University College of M edicine, Pusan, Korea

Correspondence Seong Hun SH Kim ,Email: 1

Abstract

Leigh Disease, or subacute necrotizing encephalopathy(SNE), is a degenerative disorder characterized by lesions of the gray and white matter in the bran and spinal cord. The pathogenesis was known as mitochondrial enzyme defect of the respiratory chain system. We experienced 2 cases of Leigh disease. The first case, a seven-month old girl who was presented with weak respiration and failure to thrive, showed lactic acidemia and increased lactic acid in CSF fluid, high signal intensity in the bilateral putamen and head of caudate of nucleus at T2 weighted MR imaging. The second case, a 3-year-old girl with ataxic gait and bilateral ptosis also showed lactic acidemia, increased lactic acid in CSF fluid and high signal intensity in the bilateral basal ganglia. Respiratory difficuly developed in both cases and died within 1 month after visiting our hospital. The diagnosis was made by lactic acidosis and specific MRI finding. We report these cases with a brief review of its related literature.

Keywords :Leigh disease, Subacute necrotizing encephalopathy