Hypochondroplasia and temporal lobe epilepsy - A series of 4 cases

Mehdi Ahmadi; Arne Herting; Birgitt Mueffelmann; Friedrich G Woermann; Rami Abou Jamra; Christian G Bien; Tilman Polster; Christian Brandt

doi:10.1016/j.yebeh.2021.108479

Hypochondroplasia and temporal lobe epilepsy - A series of 4 cases

Epilepsy Behav. 2022 Jan:126:108479. doi: 10.1016/j.yebeh.2021.108479. Epub 2021 Dec 16.

Authors

Mehdi Ahmadi¹, Arne Herting², Birgitt Mueffelmann³, Friedrich G Woermann⁴, Rami Abou Jamra⁵, Christian G Bien⁶, Tilman Polster⁷, Christian Brandt⁸

Affiliations

¹ Dept. of Epileptology (Krankenhaus Mara), Bielefeld University, Medical School, Campus Bielefeld-Bethel, Maraweg 21, 33617 Bielefeld, Germany. Electronic address: [email protected].
² Dept. of Epileptology (Krankenhaus Mara), Bielefeld University, Medical School, Campus Bielefeld-Bethel, Maraweg 21, 33617 Bielefeld, Germany. Electronic address: [email protected].
³ Dept. of Epileptology (Krankenhaus Mara), Bielefeld University, Medical School, Campus Bielefeld-Bethel, Maraweg 21, 33617 Bielefeld, Germany. Electronic address: [email protected].
⁴ Society for Epilepsy Research, Maraweg 21, Bielefeld, Germany. Electronic address: [email protected].
⁵ Institute of Human Genetics, University Medical Center Leipzig, Leipzig, Germany. Electronic address: [email protected].
⁶ Dept. of Epileptology (Krankenhaus Mara), Bielefeld University, Medical School, Campus Bielefeld-Bethel, Maraweg 21, 33617 Bielefeld, Germany. Electronic address: [email protected].
⁷ Dept. of Epileptology (Krankenhaus Mara), Bielefeld University, Medical School, Campus Bielefeld-Bethel, Maraweg 21, 33617 Bielefeld, Germany. Electronic address: [email protected].
⁸ Dept. of Epileptology (Krankenhaus Mara), Bielefeld University, Medical School, Campus Bielefeld-Bethel, Maraweg 21, 33617 Bielefeld, Germany. Electronic address: [email protected].

PMID: 34922328
DOI: 10.1016/j.yebeh.2021.108479

Abstract

Hypochondroplasia is a skeletal dysplasia syndrome with an autosomal dominant inheritance. It may be associated with temporal lobe epilepsy. We present a series of four patients (two female, two male) with hypochondroplasia who presented at our center with drug refractory epilepsy. Clinical details and EEG and MRI findings led to a diagnosis of temporal lobe epilepsy in all four cases. The MRI findings indicate the epilepsy in hypochondroplasia may be associated with bilateral temporal lobe dysgenesis.

Keywords: Achondroplasia; FGFR3; Focal epilepsy; Temporal lobe dysgenesis.

MeSH terms

Bone and Bones / abnormalities
Dwarfism*
Electroencephalography
Epilepsy, Temporal Lobe* / complications
Epilepsy, Temporal Lobe* / diagnostic imaging
Female
Humans
Limb Deformities, Congenital
Lordosis
Magnetic Resonance Imaging
Male
Mutation
Receptor, Fibroblast Growth Factor, Type 3 / genetics

Substances

Receptor, Fibroblast Growth Factor, Type 3

Supplementary concepts

Hypochondroplasia