Abstract
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.
ABBREVIATIONS:
- PCF
- posterior cranial fossa
- PCFBV
- posterior cranial fossa brain volume
- STBV
- supratentorial brain volume
Footnotes
Dr Joseph Yuan-Mou Yang receives grant support from the Royal Children’s Hospital Foundation (RCH1000).
- © 2019 by American Journal of Neuroradiology