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Cytochrome c Oxidase Partial Deficiency-Associated Leigh Disease Presenting as an Extrapyramidal Syndrome

Melita ai, MD, PhD

Department of Pediatrics Children's Hospital Zagreb

Ekkehard Wilichowski, MD, PhD

Department of Neuropediatrics Georg-August University Göttingen Göttingen, Germany

Vlatka Mejaki-Bonjak, MD, PhD

Department of Pediatrics Children's Hospital Zagreb

Ksenija Fumi, PhD

Department of Biochemistry Clinical Hospital Center Zagreb

Lucija Luji, MD

Department of Pediatrics Children's Hospital Zagreb Zagreb University Medical School Zagreb, Croatia

Branka Marusi

Department of Pediatrics Children's Hospital Zagreb Zagreb University Medical School Zagreb, Croatia

Della Marina, MD, MSc

Department of Pediatrics Children's Hospital Zagreb Zagreb University Medical School Zagreb, Croatia

Folker Hanefeld, MD, PhD

Department of Neuropediatrics Georg-August University Göttingen Gottingen, Germany

Leigh disease is a subacute neurodegenerative disorder characterized by symmetric necrotic lesions in the basal ganglia, cerebellum, thalamus, brain stem, and optical nerves and caused by altered oxidative phosphorylation. We describe the clinical, biochemical, neuroimaging, and molecular studies of a 19-year-old boy with early-onset Leigh disease manifesting as severe extrapyramidal disorder with generalized dystonia and choreoathetosis. He was born of healthy parents after an uneventful pregnancy and delivery. At the age of 2 years, after a minor respiratory infection, he developed unstable, broad-based gait and tremor of the hands. These symptoms persisted for the next several years, when ataxia became more prominent. Difficulty in swallowing, dysarthria, trunk dystonia, and marked dyskinesia of the arms and hands gradually developed. Nystagmus, transient ptosis, and strabismus also appeared. Abnormal laboratory findings included elevated plasma and cerebrospinal fluid lactate and pyruvate, with an abnormal lactate/pyruvate ratio. Cranial computed tomography and magnetic resonance imaging demonstrated signs of cerebellar atrophy, bilateral and symmetric hypodensities in the lentiform nucleus and thalamus, and transient hyperintensities of cerebral peduncles in T₂-weighted sequences suggestive of Leigh disease. Muscle biopsy revealed isolated fiber atrophy, necrotic fibers undergoing phagocytosis, and no ragged-red fibers. The measured catalytic activity of cytochrome c oxidase in skeletal muscle homogenates demonstrated a partial cytochrome c oxidase deficiency. No abnormalities in the mitochondrial genome and in the SURF-1 gene were found. The boy is currently receiving levodopa therapy, creatine monohydrate, and a high dosage of thiamine and lipoic acid, his condition is stabilized, and extrapyramidal symptoms are less pronounced. (J Child Neurol 2001; 16:616-619).

Journal of Child Neurology, Vol. 16, No. 8, 616-619 (2001)
DOI: 10.1177/088307380101600818


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