ea0059ep37 | Clinical biochemistry | SFEBES2018
Tudor Roxana
, Marie Hannon Anne
, Tormey William T.
, Sherlock Mark
, Thompson Christopher J.
A 24 year old man presented with gait instability, myalgia, and cognitive decline, after a holiday in Crete; his alcohol intake exceeded 200 units/week. He had marked facial dysmorphism, with frontal bossing, and global muscle weakness. He had hypernatraemic dehydration (plasma sodium 175 mmol/l urea 16.9 mmol/l), but denied thirst. Urine concentration was 894 mOsm/kg, excluding diabetes insipidus. CK was elevated at 15,540 U/l. CT brain shown marked hydrocephalus. Rhabdomyoly...