Veiga Marcos Gil Alberto da, Marecos Clara, Duarte Sofia Temudo, Vieira José Pedro, Conceição Carla
Department of Neuroradiology, Centro Hospitalar de Lisboa Central, R. José António Serrano, 1150-199 Lisboa, Portugal.
Department of Neuropediatrics, Hospital Dona Estefânia - Centro Hospitalar de Lisboa Central, R. Jacinta Marto, 1169-045 Lisboa, Portugal.
eNeurologicalSci. 2019 Jun 28;16:100197. doi: 10.1016/j.ensci.2019.100197. eCollection 2019 Sep.
Leigh Syndrome is a neurodegenerative disorder caused by mitochondrial dysfunction, with significant phenotypic and genetic heterogeneity. It usually presents in early life, with a severe prognosis. It can be caused by more than 75 different gene mutations, of nuclear and mitochondrial origin, involving all respiratory chain complexes, with less than 25% of Leigh syndrome having mitochondrial DNA mutations. The typical pathologic hallmarks are focal, bilateral, and symmetric lesions in the basal ganglia, thalamus, cerebellum, cerebral white matter and spinal cord gray matter, usually with T2WI and FLAIR hyperintensity. The basal ganglia and thalami frequently present with a pattern of cytotoxic edema. We present one case with clinical and analytical features consistent with Leigh Syndrome, with peculiar imaging features, showing dominant cerebellar edematous changes with unexpected petechial component suggestive of microangiopathy. To our knowledge, these features are unreported and suggest the existence of microvascular lesions. Based on the reported imaging findings, we propose that Leigh Syndrome should be added to the differential diagnosis of acute cerebellitis.
Leigh综合征是一种由线粒体功能障碍引起的神经退行性疾病，具有显著的表型和遗传异质性。它通常在生命早期出现，预后严重。它可由75种以上不同的基因突变引起，这些基因突变源于细胞核和线粒体，涉及所有呼吸链复合体，不到25%的Leigh综合征有线粒体DNA突变。典型的病理特征是基底神经节、丘脑、小脑、脑白质和脊髓灰质出现局灶性、双侧对称性病变，通常在T2加权成像（T2WI）和液体衰减反转恢复序列（FLAIR）上呈高信号。基底神经节和丘脑常表现为细胞毒性水肿模式。我们报告一例具有与Leigh综合征一致的临床和分析特征的病例，其影像学特征独特，显示以小脑水肿为主的变化，并伴有提示微血管病的意外瘀点成分。据我们所知，这些特征尚未见报道，提示存在微血管病变。基于所报道的影像学表现，我们建议将Leigh综合征纳入急性小脑炎的鉴别诊断。
