title: Neuroimaging and neurological findings in patients with hypochondroplasia and FGFR3 N540K mutation.
abstract: Hypochondroplasia (HCH), an autosomal dominant skeletal dysplasia caused by mutations in the FGFR3 gene, has not been commonly associated with neurological problems. Temporal lobe dysgenesis associated with epilepsy was recently described in single patients. In this retrospective study, we assessed neurological and neuroimaging aspects of 13 FGFR3 (N540K) mutation verified HCH patients in Finland. Eight patients had neurocognitive difficulties, ranging from specific learning disorder (2/13) to mild intellectual disability (5/13) or global developmental delay (1/13). Six of 13 patients had a history of seizures or epilepsy. Eight patients had undergone MRI. They all had structural abnormalities consistent with temporal lobe dysgenesis. Six patients had peritrigonal white matter reduction, and 4 had abnormally shaped lateral ventricles. We recommend a close follow-up of development in patients with HCH and a low threshold for neuroimaging.
authors.affiliation: Department of Pediatric Neurology, Children's Hospital, Helsinki University Central Hospital, University of Helsinki, Helsinki, Finland. tarja.linnankivi@hus.fi
authors.forename: Tarja
authors.initials: T
authors.lastname: Linnankivi
authors.forename: Outi
authors.initials: O
authors.lastname: Mäkitie
authors.forename: Leena
authors.initials: L
authors.lastname: Valanne
authors.forename: Sanna
authors.initials: S
authors.lastname: Toiviainen-Salo
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D000293:Adolescent; D001842:Bone and Bones / Q000002:abnormalities / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D004392:Dwarfism / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology*; D005260:Female; D005387:Finland; D006801:Humans; D007223:Infant; D017880:Limb Deformities, Congenital / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology*; D008141:Lordosis / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology*; D008297:Male; D009154:Mutation; D059906:Neuroimaging / Q000379:methods; D011596:Psychomotor Disorders / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D051498:Receptor, Fibroblast Growth Factor, Type 3 / Q000235:genetics*; D012189:Retrospective Studies; D013702:Temporal Lobe / Q000473:pathology
chemical_list: C496365:FGFR3 protein, human; D051498:Receptor, Fibroblast Growth Factor, Type 3