Hypocondroplasia is caused by mutation on FGFR3 gene that is known to play a role in controlling nervous system development. In literature three patients with hypochondroplasia with medial temporal lobe dysgenesis and early onset of temporal lobe seizures were described. We describe the clinical, electroclinical and neuroradiological findings of one patient with the same characteristics and the same mutation FGFR3 (N540K).The patient was mentally normal and showed early onset seizures that started in bilateral temporal regions. MRI showed abnormally anteriorly-posteriorly oriented hippocampus and parahippocampal gyri, with right anterior hippocampus focal cortical rime abnormality, with grey-white matter junction blurring and cortical thickening.
|Translated title of the contribution||Focal epilepsy, temporal lobe dysgenesis and hypocondroplasia with FGFR3 gene mutation|
|Number of pages||3|
|Journal||Bollettino - Lega Italiana contro l'Epilessia|
|Publication status||Published - May 2008|
ASJC Scopus subject areas
- Clinical Neurology