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Journal of Child Neurology
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Neuropathologic and Clinical Features in Eight Chinese Patients With Leigh Disease

Yu-Wu Jiang, MD

Department of Pediatrics Peking University First Hospital Beijing, China

Jiong Qin, MD

Department of Pediatrics Peking University First Hospital Beijing, China

Yun Yuan, MD

Department of Pediatrics Peking University First Hospital Beijing, China

Yu Qi, PhD

Department of Pediatrics Peking University First Hospital Beijing, China

Xi-Ru Wu, MD

Department of Pediatrics Peking University First Hospital Beijing, China

We present the neuropathologic and clinical features of eight Chinese patients with Leigh disease. Five cases had onset before 1 year of age, the other three after 1 year of age. Cranial magnetic resonance imaging (MRI) demonstrated symmetric and bilateral long T1 and long T2 lesions mainly in the basal ganglia and brain stem. The putamen was most commonly and severely affected. Brain neuropathologic examinations showed multiple symmetric foci of degeneration and necrosis with capillary proliferation and dilation. In contrast to previous reports, these foci were mainly in the brain stem, not the basal ganglia. We examined mitochondrial DNA from three patients and found the T8993G mitochondrial DNA mutation in one of them. This patient inherited the mutation from his mother, who does not display any symptoms now. From this study, we found that the nuclei in the brain stem can be more frequently affected than those in the basal ganglia. (J Child NeuroL 2002;17: 450-452).

Journal of Child Neurology, Vol. 17, No. 6, 450-452 (2002)
DOI: 10.1177/088307380201700611
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