Mortality of Japanese patients with Leigh syndrome: Effects of age at onset and genetic diagnosis

• DOI: 10.1002/jimd.12218
• Publication Date: 2020-01-22T10:40:20Z
• Authors: Erika Ogawa; Takuya Fushimi; Minako Ogawa‐Tomi...; Masaru Shimura; Makiko Tajika; Keiko Ichimoto; Ayako Matsunaga; Tomoko Tsuruoka; Mika Ishige; Tatsuo Fuchigami; Taro Yamazaki; Yoshihito Kishita; Masakazu Kohda; Atsuko Imai‐Okazaki; Yasushi Okazaki; Ichiro Morioka; Akira Ohtake; Kei Murayama
• Keywords: Leigh disease

Abstract Leigh syndrome is a major phenotype of mitochondrial diseases in children. With new therapeutic options being proposed, assessing the mortality and clinical condition patients crucial for evaluating therapeutics. As data are scarce Japan, we analysed rate Japanese that diagnosed since 2007. Data from 166 with 2007 to 2017 were reviewed. Patients' present status, method ventilation feeding, degree disability as April 2018 was analysed. Overall, 124 (74.7%) living, 40 (24.1%) deceased, 2 (1.2%) lost follow‐up. Median age living 8 years (1‐39 years). length disease course 91 months 23.5 deceased patients. Nearly 90% deaths occurred by 6. Mortality onset before 6 significantly higher than after months. All neonatal either or bedridden. MT‐ATP6 deficiency caused m.8993T>G mutation MT‐ND5 induced severe form syndrome. Patients NDUFAF6 , ECHS1 SURF1 had relatively mild symptoms better survival. The impact on prognosis varied across genetic diagnoses. many poor; however, few did not require mechanical tube‐feeding physically dependent. Early diagnosis may have prognostic value.