Magnetic resonance imaging findings and clinical characteristics in mild malformation of cortical development with oligodendroglial hyperplasia and epilepsy in a predominantly adult cohort

Epilepsia ◽  
2021 ◽  
Author(s):  
Vanessa C. Mendes Coelho ◽  
Marcia Morita‐Sherman ◽  
Clarissa L. Yasuda ◽  
Marina M. K. Alvim ◽  
Barbara Juarez Amorim ◽  
...  
Keyword(s):  
Magnetic Resonance Imaging ◽  
Magnetic Resonance ◽  
Clinical Characteristics ◽  
Cortical Development ◽  
Imaging Findings ◽  
Resonance Imaging ◽  
Malformation Of Cortical Development

Cerebellar Injury in Term Infants: Clinical Characteristics, Magnetic Resonance Imaging Findings, and Outcome

2009 ◽  
Vol 41 (1) ◽  
pp. 1-8 ◽  
Author(s):  
Catherine Limperopoulos ◽  
Richard L. Robertson ◽  
Nancy R. Sullivan ◽  
Haim Bassan ◽  
Adré J. du Plessis
Keyword(s):  
Magnetic Resonance Imaging ◽  
Magnetic Resonance ◽  
Clinical Characteristics ◽  
Imaging Findings ◽  
Resonance Imaging ◽  
Term Infants ◽  
Cerebellar Injury

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

2019 ◽  
Vol 32 (2) ◽  
pp. 148-150 ◽  
Author(s):  
Juliana Jimenez ◽  
Diego A Herrera ◽  
Sergio A Vargas ◽  
Jorge Montoya ◽  
Mauricio Castillo
Keyword(s):  
Magnetic Resonance Imaging ◽  
Magnetic Resonance ◽  
Heterozygous Mutation ◽  
Imaging Findings ◽  
Resonance Imaging ◽  
Caudate Nuclei ◽  
Large Head ◽  
Malformation Of Cortical Development ◽  
Brain Malformations ◽  
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 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).

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