A Complex Cortical Malformation Caused by a Mutation in the Tubulin-Encoding TUBB3 Gene
Tubulinopathy commonly refers to complex congenital and non-progressive brain malformations caused by mutations in the tubulin genes. Among tubulin-encoding genes, TUBB3 has rarely been reported as a cause of complex cortical malformations. Herein, we report a case of tubulinopathy in a 21-month-...
| Main Authors: | , |
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| Format: | Article |
| Language: | English |
| Published: |
The Korean Society of Radiology
2020-09-01
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| Series: | 대한영상의학회지 |
| Subjects: | |
| Online Access: | https://doi.org/10.3348/jksr.2019.0175 |
| Summary: | Tubulinopathy commonly refers to complex congenital and non-progressive brain malformations
caused by mutations in the tubulin genes. Among tubulin-encoding genes, TUBB3 has
rarely been reported as a cause of complex cortical malformations. Herein, we report a case of
tubulinopathy in a 21-month-old boy who presented with delayed development. He could not
walk on his own and was not able to speak more than five words. Physical examination revealed
right esotropia and hypotonia of the lower extremities. MRI showed dysmorphic brainstem and
dysmorphic and hypertrophic basal ganglia. The right thalamus was relatively smaller than the
left one. The cerebellum showed disorganization of the cerebellar folia. DNA sequencing revealed
a missense mutation of the TUBB3 gene. |
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| ISSN: | 1738-2637 2288-2928 |