Leigh syndrome with spinal cord involvement due to a hemizygous NDUFA1 mutation

• Published in: Brain & development (Tokyo. 1979) Vol. 40; no. 6; pp. 498 - 502
• Main Authors: Miyauchi, Akihiko, Osaka, Hitoshi, Nagashima, Masako, Kuwajima, Mari, Monden, Yukifumi, Kohda, Masakazu, Kishita, Yoshihito, Okazaki, Yasushi, Murayama, Kei, Ohtake, Akira, Yamagata, Takanori
• Format: Journal Article
• Language: English
• Published: Netherlands Elsevier B.V 01.06.2018
• Subjects: Brain - diagnostic imaging; Child; Complex Ⅰ deficiency; Diagnosis, Differential; Humans; Leigh Disease - diagnostic imaging; Leigh Disease - genetics; Leigh Disease - therapy; Leigh syndrome; Male; Mutation, Missense; NADH Dehydrogenase - genetics; NDUFA1; Spinal Cord - diagnostic imaging; Spinal Cord Diseases - diagnostic imaging; Spinal Cord Diseases - genetics; Spinal Cord Diseases - therapy; Spinal cord involvement; NDUFA1; Leigh syndrome; Spinal cord involvement; Complex Ⅰ deficiency
• ISSN: 0387-7604; 1872-7131
• DOI: 10.1016/j.braindev.2018.02.007

Leigh syndrome, which is a common phenotype of pediatric mitochondrial disease, is a progressive neurodegenerative disease. The typical neuroimaging findings of Leigh syndrome include bilateral symmetric lesions in the basal ganglia and/or the brainstem. However, there are a few reports on spinal cord involvement in patients with Leigh syndrome. In the present case, magnetic resonance imaging (MRI) obtained during infancy revealed symmetric lesions in the substantia nigra of a patient with Leigh syndrome with an NDUFA1 mutation; lesions of the bilateral putamen and brainstem were subsequently observed. Additionally, our patient presented large and extended spinal cord lesions. Therefore, this case is suggesting that we should consider the occurrence of spinal cord lesions as an atypical finding in Leigh syndrome.