TY  - JOUR
AU  - Ritter, Christian
AU  - Goebel, C.
AU  - Liebig, T.
AU  - Kaminsky, E.
AU  - Fink, Gereon Rudolf
AU  - Lehmann, H. C.
TI  - An epigenetic cause of seizures and brain calcification: pseudohypoparathyroidism
JO  - The lancet  / Neurology
VL  - 385
IS  - 9979
SN  - 1474-4422
CY  - London
PB  - Lancet Publ. Group
M1  - FZJ-2015-01848
SP  - 1802
PY  - 2015
AB  - A 21-year-old right-handed student presented to our neurological department in March, 2014, after a first seizure. He had been bicycling when he suddenly fell from his bike and developed generalised tonic-clonic movements lasting about 5 min, witnessed by a passer-by. On admission he was somnolent but fully orientated. He had no relevant medical or family history and no history of substance abuse. Physical examination showed enuresis and short stature (1·66 m) but was otherwise normal. A cerebral CT scan to exclude traumatic brain injury showed extensive brain calcifications in the basal ganglia and frontal lobes (figure). Laboratory test results showed very high creatine kinase concentrations (1913 U/L; normal <170 U/L), reduced serum calcium concentrations (1·13 mmol/L; 2·2–2·6 mmol/L), and raised serum phosphate concentrations (1·98 mmol/L; 0·48–1·45 mmol/L). Clinical signs of hypocalcaemia such as carpopedal spasm or Chvostek sign were absent. Electroencephalogram (EEG) the next day showed dysrhythmia with diffuse slowing.
LB  - PUB:(DE-HGF)16
UR  - <Go to ISI:>//WOS:000353726000037
C6  - pmid:25943944
DO  - DOI:10.1016/S0140-6736(15)60451-2
UR  - https://juser.fz-juelich.de/record/188473
ER  -