β-Tubulinopathy caused by a mutation of the TUBB2B gene: magnetic resonance imaging findings of the brain

Patients with mutations in tubulin-related genes usually present with brain malformations, intellectual disability, epilepsy, microcephaly and ocular abnormalities. In these patients the diagnosis can be suggested by neuroimaging findings. We report a 5-year-old patient with characteristic magnetic...

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Bibliographic Details
Published inThe neuroradiology journal Vol. 32; no. 2; pp. 148 - 150
Main Authors Jimenez, Juliana, Herrera, Diego A, Vargas, Sergio A, Montoya, Jorge, Castillo, Mauricio
Format Journal Article
LanguageEnglish
Published London, England SAGE Publications 01.04.2019
Subjects
Child, Preschool
General Neuroradiology
Humans
Magnetic Resonance Imaging - methods
Male
Malformations of Cortical Development - diagnostic imaging
Malformations of Cortical Development - genetics
Mutation
Phenotype
Tubulin - genetics
epilepsy
tubulin
TUBB2B
neurodevelopmental delays
brain malformations
Microtubules
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Summary:Patients with mutations in tubulin-related genes usually present with brain malformations, intellectual disability, epilepsy, microcephaly and ocular abnormalities. In these patients the diagnosis can be suggested by neuroimaging findings. We report a 5-year-old patient with characteristic magnetic resonance imaging findings including malformation of cortical development, fused basal ganglia, large head of the caudate nuclei, absent anterior limbs of the internal capsules, corpus callosum dysgenesis and dysplastic cerebellar vermis. Sequencing of the TUBB2B gene confirmed a heterozygous mutation: c. 260C>A (p. Pro87Gln).
ISSN:1971-4009
2385-1996
DOI:10.1177/1971400919828142