Journal Article

FZJ-2015-01848

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png An epigenetic cause of seizures and brain calcification: pseudohypoparathyroidism

Ritter, C. (Corresponding Author)FZJ* ; Goebel, C.FZJ* ; Liebig, T. ; Kaminsky, E. ; Fink, G. R.FZJ* ; Lehmann, H. C.

2015
Lancet Publ. Group London

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Please use a persistent id in citations: doi:10.1016/S0140-6736(15)60451-2

Abstract: 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.

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Contributing Institute(s):

1. Kognitive Neurowissenschaften (INM-3)

Research Program(s):

1. 572 - (Dys-)function and Plasticity (POF3-572) (POF3-572)

Appears in the scientific report 2015

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Database coverage:
; Current Contents - Clinical Medicine ; IF >= 20 ; JCR ; NCBI Molecular Biology Database ; SCOPUS ; Science Citation Index Expanded ; Thomson Reuters Master Journal List ; Web of Science Core Collection

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