当前位置: X-MOL 学术Pract. Neurol. › 论文详情
Our official English website, www.x-mol.net, welcomes your feedback! (Note: you will need to create a separate account there.)
Fatal cerebellar oedema in adult Leigh syndrome
Practical Neurology ( IF 2.4 ) Pub Date : 2020-07-17 , DOI: 10.1136/practneurol-2019-002409
Leon S Edwards 1 , Gabor M Halmagyi 2 , Amali Mallawaarachchi 3 , Elizabeth O Thompson 4 , Matthew C Kiernan 2, 5
Affiliation  

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:

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。
更新日期:2020-07-17
down
wechat
bug