TY - JOUR T1 - Fatal cerebellar oedema in adult Leigh syndrome JF - Practical Neurology JO - Pract Neurol SP - 336 LP - 337 DO - 10.1136/practneurol-2019-002409 VL - 20 IS - 4 AU - Leon S Edwards AU - Gabor M Halmagyi AU - Amali Mallawaarachchi AU - Elizabeth O Thompson AU - Matthew C Kiernan Y1 - 2020/08/01 UR - http://pn.bmj.com/content/20/4/336.abstract N2 - 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 … ER -