Medial temporal lobe dysgenesis in Muenke syndrome and hypochondroplasia.
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.
Grosso
Salvatore
S
Department of Pediatrics, Obstetrics and Reproductive Medicine, University of Siena, Viale M. Bracci-Le Scotte, 53100 Siena, Italy.
Farnetani
Maria Angela
MA
Berardi
Rosario
R
Bartalini
Gabriella
G
Carpentieri
Marilisa
M
Galluzzi
Paolo
P
Mostardini
Rosa
R
Morgese
Guido
G
Balestri
Paolo
P
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
D017468:Receptors, Fibroblast Growth Factor; C496365:FGFR3 protein, human; D011505:Protein-Tyrosine Kinases; D051498:Receptor, Fibroblast Growth Factor, Type 3