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Temporal and occipital lobe features in children with hypochondroplasia/FGFR3 gene mutation

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Abstract

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.)

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Authors and Affiliations

  1. Department of Neuroradiology, The Hospital for Sick Children, 555 University Ave., Toronto, ON, Canada, M5G 1X8

    Cristina M. Philpott

  2. Diagnostic Imaging, The Hospital for Sick Children, Toronto, ON, Canada

    Elysa Widjaja, Charles Raybaud, Helen M. Branson & Susan Blaser

  3. Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada

    Peter Kannu

Authors
  1. Cristina M. Philpott
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  2. Elysa Widjaja
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  3. Charles Raybaud
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  4. Helen M. Branson
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  5. Peter Kannu
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  6. Susan Blaser
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Corresponding author

Correspondence to Cristina M. Philpott.

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Philpott, C.M., Widjaja, E., Raybaud, C. et al. Temporal and occipital lobe features in children with hypochondroplasia/FGFR3 gene mutation. Pediatr Radiol 43, 1190–1195 (2013). https://doi.org/10.1007/s00247-013-2684-3

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  • DOI: https://doi.org/10.1007/s00247-013-2684-3

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