Neuroimaging and neurological findings in patients with hypochondroplasia and FGFR3 N540K mutation

Authors

  • Tarja Linnankivi,

    Corresponding author
    1. Department of Pediatric Neurology, Children's Hospital, Helsinki University Central Hospital, University of Helsinki, Helsinki, Finland
    • Department of Pediatric Neurology, Children's Hospital, Helsinki University Central Hospital, Stenbäckinkatu 11, FIN-00290 Helsinki, Finland.
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  • Outi Mäkitie,

    1. Department of Pediatrics, Children's Hospital, Helsinki University Central Hospital, University of Helsinki, Helsinki, Finland
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  • Leena Valanne,

    1. Department of Radiology, University of Helsinki, HUS Radiology (Medical Imaging Center), Helsinki, Finland
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  • Sanna Toiviainen-Salo

    1. Department of Radiology, University of Helsinki, HUS Radiology (Medical Imaging Center), Helsinki, Finland
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  • The authors have no conflicts of interest to declare.

  • How to Cite this Article: Linnankivi T, Mäkitie O, Valanne L, Toiviainen-Salo S. 2012. Neuroimaging and neurological findings in patients with hypochondroplasia and FGFR3 N540K mutation Am J Med Genet Part A 158A: 3119–3125.

Abstract

Hypochondroplasia (HCH), an autosomal dominant skeletal dysplasia caused by mutations in the FGFR3 gene, has not been commonly associated with neurological problems. Temporal lobe dysgenesis associated with epilepsy was recently described in single patients. In this retrospective study, we assessed neurological and neuroimaging aspects of 13 FGFR3 (N540K) mutation verified HCH patients in Finland. Eight patients had neurocognitive difficulties, ranging from specific learning disorder (2/13) to mild intellectual disability (5/13) or global developmental delay (1/13). Six of 13 patients had a history of seizures or epilepsy. Eight patients had undergone MRI. They all had structural abnormalities consistent with temporal lobe dysgenesis. Six patients had peritrigonal white matter reduction, and 4 had abnormally shaped lateral ventricles. We recommend a close follow-up of development in patients with HCH and a low threshold for neuroimaging. © 2012 Wiley Periodicals, Inc.

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