Leigh syndrome in children: brain MR imaging characters and diagnosis

TANG Xiaolu; LYU Yanqiu; TAO Xiaojuan; LIU Yue; FANG Fang; SHEN Danmin; CHENG Hua

Abstract：Objective To investigate the brain MRI features of children with subacute necrotic cerebrospinal cord syndrome (Leigh syndrome). Methods The clinical data and MRI findings of 15 children with Leigh syndrome confirmed by genetic testing were retrospectively analyzed. Results In the 15 cases, lesions in the brain showed as symmetrical patchy or irregular shape. The brainstem (14 cases), basal ganglia (10 cases) and thalamus (8 cases), dorsal thalamus medial third ventricle were involved. Four of 15 cases involved only single site and 11 of 15 cases involved multiple sites. The involvement propensity of basal ganglia was as follows: putamen (9 cases), globus pallidus (8 cases), and caudate nucleus (5 cases). The involvement propensity of brain stem was as follows: cerebellar peduncle (13 cases), medulla oblongata (10 cases), midbrain dorsal (9 cases), aqueduct (8 cases) and pontine (5 cases). Lesions showed hypointensity or slightly hypointensity on T1 weighted imaging and hyperintensity on T2 weighted imaging. Most of the lesions showed inhomogeneous on T2FLAIR (12 cases), which showed hyperintensity patchy with hypointensity punctates in it. Lesions showed heterogenous diffusion restriction on DWI in 11 of 15 cases, in which high signal pathchy with diffusion restriction intermixed with low signal areas with no diffuse restriction. Three of 5 cases underwent MRS spectroscopy examination showed decreased NAA and elevated lactate. Conclusion Brain MR imaging features of Leigh syndrome in children appeared certain characteristics. Leigh syndrome should be considered when a symmetric lesions involved the brainstem, basal ganglia and the thalamus isolately or simultaneously, especially when the lesions with heterogenous diffusivity and inhomogenous intensity on T2FLAIR. If the lesions combined with elevated lactate on proton MR spectrum, Leigh syndrome should be highly suggested.