RT Journal Article SR Electronic T1 Macrocerebellum in Achondroplasia: A Further CNS Manifestation of FGFR3 Mutations? JF American Journal of Neuroradiology JO Am. J. Neuroradiol. FD American Society of Neuroradiology SP 338 OP 342 DO 10.3174/ajnr.A6369 VO 41 IS 2 A1 H.M. Pascoe A1 J.Y.-M. Yang A1 J. Chen A1 A.M. Fink A1 S. Kumbla YR 2020 UL http://www.ajnr.org/content/41/2/338.abstract AB SUMMARY: Achondroplasia is the result of a mutation in the fibroblast growth factor receptor 3 gene (FGFR3). Appearances suggestive of macrocerebellum have not been described in this patient group. We retrospectively reviewed MR imaging studies of the brain in 23 children with achondroplasia. A constellation of imaging findings that are recognized in macrocerebellum was observed, including cerebellar hemisphere enlargement (inferior and superior extension, wrapping around the brainstem); an effaced retro- and infravermian cerebellar subarachnoid CSF space; a shortened midbrain; distortion of the tectal plate; and mass effect on the brainstem. All MR imaging studies exhibited some of these findings. Quantitative analysis confirmed an increased cerebellar volume compared with age- and sex-matched controls. We hypothesized that this may be due to direct effects of the FGFR3 mutation on cerebellar morphogenesis.PCFposterior cranial fossaPCFBVposterior cranial fossa brain volumeSTBVsupratentorial brain volume