A 19-year-old female university student presented with a 5-week history of generalised weakness, unsteady gait and breathlessness. There were no symptoms of recent infection. Her only medical history was long-standing symmetrical 40 dB sensorineural hearing loss. On neurological examination, she had hyperpnoea, mild non-fatigable global weakness, bilateral ptosis, soft speech and absent lower limb reflexes. The MR scan of brain showed symmetric T2-hyperintensities surrounding the third ventricle, hypothalamus and brainstem on fluid-attenuated inversion recovery sequences, suggestive of Leigh syndrome (figure 1). Lumbar puncture showed an opening pressure of 8 cm water. Cerebrospinal fluid (CSF) was acellular, protein 0.38 g/L (normal <0.45) and glucose 3.5 mmol/L (normal 2.2–4.5). Serum lactate and pyruvate were both elevated: lactate 4.3 mmol/L (normal 1.2–2.8) and pyruvate 0.26 mmol/L (normal <0.1).1 Arterial blood gases …

中文翻译：

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成人 Leigh 综合征的致命性小脑水肿

一名 19 岁女大学生因全身无力、步态不稳和呼吸困难 5 周就诊。近期没有感染症状。她唯一的病史是长期对称性 40 dB 感音神经性听力损失。在神经系统检查中，她有呼吸过度、轻度非疲劳性全身无力、双侧上睑下垂、言语软弱和下肢反射消失。脑部 MR 扫描在液体衰减反转恢复序列上显示第三脑室、下丘脑和脑干周围对称的 T2 高信号，提示 Leigh 综合征（图 1）。腰椎穿刺显示开口压力为 8 cm 水。脑脊液 (CSF) 无细胞，蛋白质 0.38 g/L（正常 <0.45）和葡萄糖 3.5 mmol/L（正常 2.2-4.5）。血清乳酸和丙酮酸均升高：乳酸 4。