title: Does the co-occurrence of FGFR3 gene mutation in hypochondroplasia, medial temporal lobe dysgenesis, and focal epilepsy suggest a syndrome?
abstract: BACKGROUND
  Hypochondroplasia is a rare skeletal dysplasia characterized by disproportionately short stature, lumbar lordosis, and limited extension of the elbow caused by mutations in the fibroblast growth factor receptor 3 (FGFR3) gene that plays a role in controlling nervous system development. Hypochondroplasia with FGFR3 mutation associated with bilateral medial temporal lobe anomalies and focal epilepsy was previously reported in several patients.
  
  
  METHODS
  We report clinical, electroclinical, and neuroradiological findings of one patient affected by hypochondroplasia.
  
  
  RESULTS
  Clinical diagnosis was confirmed by molecular analysis of the FGFR3 gene, which showed a N540 K mutation. The patient had normal psychomotor development and showed early-onset focal seizures with left temporal localization on interictal and ictal electroencephalograph. The seizures were well controlled, and the patient has been seizure-free since infancy. Magnetic resonance imaging showed abnormal anteriorly posteriorly infolding in the hippocampus and abnormally oriented parahippocampus sulci, and additional cortical rim dysplasia with gray-white matter junction blurring in the hippocampus.
  
  
  CONCLUSIONS
  The present case of hypochondroplasia and FGFR3 mutation in Asn540Lys associated with characteristic abnormalities involving bilaterally medial temporal lobe structures, probable hippocampal cortex focal dysplasia, and early onset of focal epilepsy underscores the possibility of a rare syndrome.
authors.affiliation: Pediatric Neurology Unit and Epilepsy Center, Department of Neuroscience, "Fatebenefratelli e Oftalmico" Hospital, Milano, Italy. Electronic address: antonino.romeo@fbf.milano.it.
authors.forename: Antonino
authors.initials: A
authors.lastname: Romeo
authors.affiliation: Pediatric Neurology Unit and Epilepsy Center, Department of Neuroscience, "Fatebenefratelli e Oftalmico" Hospital, Milano, Italy.
authors.forename: Monica
authors.initials: M
authors.lastname: Lodi
authors.affiliation: Pediatric Neurology Unit and Epilepsy Center, Department of Neuroscience, "Fatebenefratelli e Oftalmico" Hospital, Milano, Italy.
authors.forename: Maurizio
authors.initials: M
authors.lastname: Viri
authors.affiliation: Pediatric Neurology Unit and Epilepsy Center, Department of Neuroscience, "Fatebenefratelli e Oftalmico" Hospital, Milano, Italy.
authors.forename: Eliana
authors.initials: E
authors.lastname: Parente
authors.affiliation: Laboratory of Human Genetic, Italy, Molecular Biology, "Galliera" Hospital, Genova, Italy.
authors.forename: Maurizia
authors.initials: M
authors.lastname: Baldi
authors.affiliation: Radiology and Neuroradiology Department, Children's Hospital "V. Buzzi", Milano, Italy.
authors.forename: Andrea
authors.initials: A
authors.lastname: Righini
authors.affiliation: Pediatric Clinic I, Department of Pathophysiology and Transplantation, University of Milan Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milano, Italy.
authors.forename: Donatella
authors.initials: D
authors.lastname: Milani
mesh_terms: D001842:Bone and Bones / Q000002:abnormalities* / Q000473:pathology / Q000503:physiopathology; D001921:Brain / Q000473:pathology / Q000503:physiopathology; D004392:Dwarfism / Q000235:genetics* / Q000473:pathology* / Q000503:physiopathology; D004569:Electroencephalography; D004828:Epilepsies, Partial / Q000235:genetics* / Q000473:pathology* / Q000503:physiopathology; D005260:Female; D006801:Humans; D007223:Infant; D017880:Limb Deformities, Congenital / Q000235:genetics* / Q000473:pathology* / Q000503:physiopathology; D008141:Lordosis / Q000235:genetics* / Q000473:pathology* / Q000503:physiopathology; D008279:Magnetic Resonance Imaging; D009154:Mutation; D051498:Receptor, Fibroblast Growth Factor, Type 3 / Q000235:genetics*; D013577:Syndrome; D013702:Temporal Lobe / Q000002:abnormalities* / Q000503:physiopathology; D014741:Video Recording
chemical_list: C496365:FGFR3 protein, human; D051498:Receptor, Fibroblast Growth Factor, Type 3
keywords: FGFR3 gene; Hypochondroplasia; focal dysplasia; focal temporal epilepsy; hippocampus abnormalities; medial temporal lobe dysgenesis