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AJNR Awards, New Junior Editors, and more. Read the latest AJNR updates

Research ArticlePediatric Neuroimaging

Temporal Lobe Malformations in Achondroplasia: Expanding the Brain Imaging Phenotype Associated with FGFR3-Related Skeletal Dysplasias

S.A. Manikkam, K. Chetcuti, K.B. Howell, R. Savarirayan, A.M. Fink and S.A. Mandelstam
American Journal of Neuroradiology February 2018, 39 (2) 380-384; DOI: https://doi.org/10.3174/ajnr.A5468
S.A. Manikkam
aFrom the Departments of Medical Imaging (S.A. Manikkam, A.M.F., S.A. Mandelstam)
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K. Chetcuti
cDepartment of Radiology (K.C.), Alder Hey Children's Hospital, Liverpool, UK
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K.B. Howell
bNeurology (K.B.H.), Royal Children's Hospital, Melbourne, Australia
dDepartments of Paediatrics (K.B.H., S.A. Mandelstam)
fMurdoch Children's Research Institute (K.B.H., R.S., A.M.F., S.A. Mandelstam), Melbourne, Australia
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R. Savarirayan
fMurdoch Children's Research Institute (K.B.H., R.S., A.M.F., S.A. Mandelstam), Melbourne, Australia
gVictorian Clinical Genetics Services (R.S.), Melbourne, Australia
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A.M. Fink
aFrom the Departments of Medical Imaging (S.A. Manikkam, A.M.F., S.A. Mandelstam)
eRadiology (A.M.F., S.A. Mandelstam), University of Melbourne, Melbourne, Australia
fMurdoch Children's Research Institute (K.B.H., R.S., A.M.F., S.A. Mandelstam), Melbourne, Australia
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S.A. Mandelstam
aFrom the Departments of Medical Imaging (S.A. Manikkam, A.M.F., S.A. Mandelstam)
dDepartments of Paediatrics (K.B.H., S.A. Mandelstam)
eRadiology (A.M.F., S.A. Mandelstam), University of Melbourne, Melbourne, Australia
fMurdoch Children's Research Institute (K.B.H., R.S., A.M.F., S.A. Mandelstam), Melbourne, Australia
hFlorey Institute of Neuroscience and Mental Health (S.A. Mandelstam), Melbourne, Australia.
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    Fig 1.

    A, Axial T1-weighted MR image in a 5-year-old boy with achondroplasia shows a deep transverse sulcus within the temporal lobe (arrow) and abnormal configuration of the temporal horns of the lateral ventricles. B, Axial T1-weighted MR image in a 5-year-old male control shows the normal configuration of the mesial temporal lobes and temporal horns.

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    Fig 2.

    A, Sagittal T2-weighted MR image in a 2-year-old boy with achondroplasia shows a sagittal cleft within the temporal lobe (white arrow). B, Sagittal T2-weighted MR image in a 2-year-old male control shows the normal appearance of the temporal lobe. C, Antenatal sagittal T2-weighted MR image of the child with achondroplasia in A demonstrates the prenatal appearance of the sagittal clefting within the temporal lobe at 30 weeks (black arrow). D, Antenatal sagittal T2-weighted MR image of a control fetus shows the normal appearance of the temporal lobe at the same gestation.

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    Fig 3.

    A, Coronal T2-weighted MR image in a 30-month-old boy with achondroplasia shows incomplete hippocampal inversion (arrow) and ventriculomegaly. B, Coronal T2-weighted MR image in a 30-month-old male control shows the normal appearance of the hippocampi.

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    Fig 4.

    A, Coronal T2-weighted MR image in a 30-month-old boy with achondroplasia shows oversulcation and loss of gray-white matter differentiation of the mesial temporal lobes (arrow) and ventriculomegaly. B, Coronal T2-weighted MR image in a 30-month-old male control shows the normal sulcation and gray-white matter differentiation of the temporal lobes. C, Antenatal coronal T2-weighted fetal MR image of the child with achondroplasia in A obtained at 30 weeks shows oversulcation of the mesial temporal lobes (white arrows) and mild ventriculomegaly. D, Antenatal coronal T2-weighted MR image of a control fetus shows the normal appearance of the temporal lobes at the same gestation.

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    Fig 5.

    A, Axial T1-weighted MR image in a 1-year-old girl with achondroplasia shows oversulcation of the calcar avis (arrow) and moderate ventriculomegaly. B, Axial T1-weighted MR image in a 1-year-old female control shows the normal sulcation pattern of the calcar avis.

Tables

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  • Prevalence of MRI findings in children with achondroplasia

    MRI FindingPrevalence
    Deep transverse temporal sulcus (axial T1WI)13/13 (100%)
    Sagittal clefting in the medial temporal lobe (sagittal T2WI)13/13 (100%)
    Incomplete hippocampal inversion12/13 (92%)
    Ventriculomegaly12/13 (92%)
    Oversulcation of the mesial temporal lobe11/13 (85%)
    Extension of oversulcation to the calcar avis9/13 (69%)
    Loss of gray-white matter differentiation of the mesial temporal lobe5/7a (71%)
    Abnormal triangular shape of the temporal horn6/13 (46%)
    Megalencephaly5/13 (38%)
    Temporal lobe enlargement1/13 (8%)
    • ↵a In the 6 children younger than 36 months of age, loss of gray-white matter differentiation of the mesial temporal lobe could not be accurately assessed on available sequences due to the incomplete myelination.

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American Journal of Neuroradiology: 39 (2)
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Cite this article
S.A. Manikkam, K. Chetcuti, K.B. Howell, R. Savarirayan, A.M. Fink, S.A. Mandelstam
Temporal Lobe Malformations in Achondroplasia: Expanding the Brain Imaging Phenotype Associated with FGFR3-Related Skeletal Dysplasias
American Journal of Neuroradiology Feb 2018, 39 (2) 380-384; DOI: 10.3174/ajnr.A5468

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Temporal Lobe Malformations in Achondroplasia: Expanding the Brain Imaging Phenotype Associated with FGFR3-Related Skeletal Dysplasias
S.A. Manikkam, K. Chetcuti, K.B. Howell, R. Savarirayan, A.M. Fink, S.A. Mandelstam
American Journal of Neuroradiology Feb 2018, 39 (2) 380-384; DOI: 10.3174/ajnr.A5468
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