BACKGROUND: Thanatophoric dysplasia (TD) and hypochondroplasia are both caused by FGFR3 (fibroblast growth factor receptor 3) gene mutations. Temporal lobe dysplasia has been well described in thanatophoric dysplasia; however, only a couple of anecdotal cases of temporal lobe dysplasia in hypochondroplasia have been described. OBJECTIVE: To define temporal lobe abnormalities in patients with hypochondroplasia, given that they share the same genetic mutation. MATERIALS AND METHODS: We identified brain imaging studies of nine children with hypochondroplasia. The temporal lobes were assessed on CT and MRI for size and configuration of the temporal horn and aberrant sulcation of the inferior surface of the temporal lobe. RESULTS: All children had a triangular-shape temporal horn and deep transverse fissures of the inferior temporal lobe surface. Neuroimaging in our cohort revealed enlarged temporal lobes and oversulcation of the mesial temporal and occipital lobes, with abnormal inferomedial orientation of these redundant gyri. Hippocampal dysplasia was also universal. CONCLUSION: We confirmed frequent inferomesial temporal and occipital lobe abnormalities in our cohort of children with hypochondroplasia. Murine models with mutant fgfr3 display increased neuroprogenitor proliferation, cortical thickness and surface area in the temporo-occipital cortex. This is thought to result in excessive convolution and likely explains the imaging findings in this patient cohort. (Note that fgfr3 is the same genetic mutation in mice as FGFR3 is in humans.).
BACKGROUND:Thanatophoric dysplasia (TD) and hypochondroplasia are both caused by FGFR3 (fibroblast growth factor receptor 3) gene mutations. Temporal lobe dysplasia has been well described in thanatophoric dysplasia; however, only a couple of anecdotal cases of temporal lobe dysplasia in hypochondroplasia have been described. OBJECTIVE: To define temporal lobe abnormalities in patients with hypochondroplasia, given that they share the same genetic mutation. MATERIALS AND METHODS: We identified brain imaging studies of nine children with hypochondroplasia. The temporal lobes were assessed on CT and MRI for size and configuration of the temporal horn and aberrant sulcation of the inferior surface of the temporal lobe. RESULTS: All children had a triangular-shape temporal horn and deep transverse fissures of the inferior temporal lobe surface. Neuroimaging in our cohort revealed enlarged temporal lobes and oversulcation of the mesial temporal and occipital lobes, with abnormal inferomedial orientation of these redundant gyri. Hippocampal dysplasia was also universal. CONCLUSION: We confirmed frequent inferomesial temporal and occipital lobe abnormalities in our cohort of children with hypochondroplasia. Murine models with mutant fgfr3 display increased neuroprogenitor proliferation, cortical thickness and surface area in the temporo-occipital cortex. This is thought to result in excessive convolution and likely explains the imaging findings in this patient cohort. (Note that fgfr3 is the same genetic mutation in mice as FGFR3 is in humans.).
Authors: G M Senapati; D Levine; C Smith; J A Estroff; C E Barnewolt; R L Robertson; T Y Poussaint; T S Mehta; X Q Werdich; D Pier; H A Feldman; C D Robson Journal: Ultrasound Obstet Gynecol Date: 2010-11 Impact factor: 7.299
Authors: Salvatore Grosso; Maria Angela Farnetani; Rosario Berardi; Gabriella Bartalini; Marilisa Carpentieri; Paolo Galluzzi; Rosa Mostardini; Guido Morgese; Paolo Balestri Journal: Am J Med Genet A Date: 2003-07-01 Impact factor: 2.802
Authors: Rachel E Thomson; Peter C Kind; Nicholas A Graham; Michelle L Etherson; John Kennedy; Ana C Fernandes; Catia S Marques; Robert F Hevner; Tomoko Iwata Journal: Neural Dev Date: 2009-02-03 Impact factor: 3.842
Authors: Irene J Chang; Angela Sun; Maryse L Bouchard; Shawn E Kamps; Susan Hale; Stephen Done; Michael J Goldberg; Ian A Glass Journal: Am J Med Genet A Date: 2018-07 Impact factor: 2.802