New Magnetic Resonance Imaging (MRI) findings in a patient with hypochondroplasia caused by the FGFR3 N540K variant

A 7-year-old boy with hypochondroplasia had neurodevelopmental delay, mild cognitive impairment, subtle motor deficits and without epilepsy. There was no obstetric problem or perinatal impairment. Genetic revealed the p.N540K FGFR3 variant. MRI findings are depicted. FGFR3 regulates chondrocyte prol...

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Published inArquivos de neuro-psiquiatria Vol. 79; no. 7; pp. 656 - 657
Main Authors Mimura, Paula Maria Preto, Castro, José Thiago de Souza de, Jarry, Vinicius de Menezes, França Júnior, Marcondes Cavalcanti, Reis, Fabiano
Format Journal Article
LanguageEnglish
Portuguese
Published Sao Paulo Arquivos de Neuro-Psiquiatria 01.07.2021
Academia Brasileira de Neurologia - ABNEURO
Academia Brasileira de Neurologia (ABNEURO)
Subjects
Chondrocytes
Chondrogenesis
Cognitive ability
Epilepsy
Fibroblast growth factor receptors
Hypochondroplasia
Magnetic resonance imaging
Neurodevelopmental disorders
Neurogenesis
Neuroimaging
NEUROSCIENCES
PSYCHIATRY
Substantia alba
Temporal lobe
Ventricle (lateral)
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Summary:A 7-year-old boy with hypochondroplasia had neurodevelopmental delay, mild cognitive impairment, subtle motor deficits and without epilepsy. There was no obstetric problem or perinatal impairment. Genetic revealed the p.N540K FGFR3 variant. MRI findings are depicted. FGFR3 regulates chondrocyte proliferation and differentiation and is instrumental in cortical patterning and neurogenesis. Temporal lobe dysgenesis is common in FGFR3-related hypochondroplasia. Squared and enlarged lateral ventricles, with reduced peritrigonal white matter (WM) have been described, but periventricular WM hyperintensities on T2/FLAIR weighted images, as demonstrated here, were not reported previously. Such WM lesions expand the neuroimaging signature in FGFR3-related hypochondroplasia.
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ISSN:0004-282X
1678-4227
1678-4227
DOI:10.1590/0004-282X-ANP-2020-0424