title: Medial temporal lobe dysgenesis in Muenke syndrome and hypochondroplasia.
abstract: Hypochondroplasia (HCH) and Muenke syndrome (MS) are caused by mutations on FGFR3 gene. FGFR3 is known to play a role in controlling nervous system development. We describe the clinical and neuroradiological findings of the first two patients, to our knowledge, affected by HCH and MS, respectively, in whom bilateral dysgenesis of the medial temporal lobe structures has been observed. In both patients diagnosis was confirmed by molecular analysis. They were mentally normal and showed similarities in early-onset temporal lobe-related seizures. In both patients EEG recorded bilateral temporal region discharges. MRI detected temporal lobe anomalies with inadequate differentiation between white and gray matter, defective gyri, and abnormally shaped hippocampus.
authors.affiliation: Department of Pediatrics, Obstetrics and Reproductive Medicine, University of Siena, Viale M. Bracci-Le Scotte, 53100 Siena, Italy.
authors.forename: Salvatore
authors.initials: S
authors.lastname: Grosso
authors.forename: Maria Angela
authors.initials: MA
authors.lastname: Farnetani
authors.forename: Rosario
authors.initials: R
authors.lastname: Berardi
authors.forename: Gabriella
authors.initials: G
authors.lastname: Bartalini
authors.forename: Marilisa
authors.initials: M
authors.lastname: Carpentieri
authors.forename: Paolo
authors.initials: P
authors.lastname: Galluzzi
authors.forename: Rosa
authors.initials: R
authors.lastname: Mostardini
authors.forename: Guido
authors.initials: G
authors.lastname: Morgese
authors.forename: Paolo
authors.initials: P
authors.lastname: Balestri
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D001848:Bone Diseases, Developmental / Q000235:genetics*; D001921:Brain / Q000473:pathology; D002675:Child, Preschool; D003398:Craniosynostoses / Q000235:genetics*; D004569:Electroencephalography; D004833:Epilepsy, Temporal Lobe / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D006624:Hippocampus / Q000002:abnormalities / Q000473:pathology; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation; D010641:Phenotype; D011505:Protein-Tyrosine Kinases; D051498:Receptor, Fibroblast Growth Factor, Type 3; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics*; D013577:Syndrome; D013702:Temporal Lobe / Q000002:abnormalities* / Q000473:pathology
chemical_list: D017468:Receptors, Fibroblast Growth Factor; C496365:FGFR3 protein, human; D011505:Protein-Tyrosine Kinases; D051498:Receptor, Fibroblast Growth Factor, Type 3