Abstract
Hypochondroplasia is a disorder caused by FGFR3 mutations, commonly featuring short limbs and stature. Thanatophoric dysplasia, achondroplasia and Muenke syndrome are genetically related conditions with skeletal dysplasia and temporal lobe dysgenesis. We present a 6-month old boy with hypochondroplasia and epilepsy. His brain MRI revealed bilateral temporal lobe dysplasia, with redundant sulci and a rotated hippocampus. The neuroimaging findings of our case provide direct insight in the pathogenesis of the cerebral dysgenesis in FGFR3-related disorders. In addition, through this case we review the neurological spectrum of FGFR3 mutations.
Highlights
Hypochondroplasia is a rare disorder with an estimated incidence of 3,3 per 100,000 live birth [1]
Patients present with a skeletal dysplasia resulting in short limbs and stature
Other Fibroblast Growth Factor Receptor 3 (FGFR3)-related disorders include thanatophoric dysplasia, achondroplasia and Muenke syndrome, which can present with both skeletal dysplasia and temporal lobe dysgenesis
Summary
Hypochondroplasia is a rare disorder with an estimated incidence of 3,3 per 100,000 live birth [1]. Patients present with a skeletal dysplasia resulting in short limbs and stature. Neurological involvement, is increasingly reported, including the presence of epilepsy and temporal lobe dysgenesis, expanding the phenotypical spectrum of FGFR3 mutations [3,4,5,6,7,8]. Other FGFR3-related disorders include thanatophoric dysplasia, achondroplasia and Muenke syndrome, which can present with both skeletal dysplasia and temporal lobe dysgenesis. The case presented here is not novel but illustrates the neurological involvement in FGFR3-related disorders. History was notable for a maternal history of febrile seizures On examination, he had mild frontal bossing but no other cranial dysmorphism.
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