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PT  - JOURNAL ARTICLE
AU  - Pascoe, H.M.
AU  - Yang, J.Y.-M.
AU  - Chen, J.
AU  - Fink, A.M.
AU  - Kumbla, S.
TI  - Macrocerebellum in Achondroplasia: A Further CNS Manifestation of &lt;em&gt;FGFR3&lt;/em&gt; Mutations?
AID  - 10.3174/ajnr.A6369
DP  - 2020 Feb 01
TA  - American Journal of Neuroradiology
PG  - 338--342
VI  - 41
IP  - 2
4099  - http://www.ajnr.org/content/41/2/338.short
4100  - http://www.ajnr.org/content/41/2/338.full
SO  - Am. J. Neuroradiol.2020 Feb 01; 41
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