Searchable abstracts of presentations at key conferences in endocrinology

ea0059ep37 | Clinical biochemistry | SFEBES2018

Recurrent severe hypernatraemia in a young man with hydrocephalus and normal osmoregulatory function

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...