Presentation
Clinically diagnosed microcephaly.
Patient Data
Sulci are few and shallow with increase cortical thickness in consistent with lissencephaly.
Agenesis of the anterior limb of the internal capsule.
Fused appearance of the caudate and putamen.
Hooked appearance of frontal horn with protrusion of caudate in to the lateral ventricle.
Mild ventriculomegaly.
Pontine hypoplasia.
Sagittal T2-weighted imaging reveals the corpus callosum is shortened, consistent with hypoplasia, although sagittal T1 is needed for pediatric patients for corpus callosum evaluation.
Case Discussion
The term "tubulinopathy" refers to a broad range of cortical abnormalities brought on by errors in the genes that produce the tubulin protein, which is essential for controlling neuronal migration during brain development.
Acknowledgment: Dr. Ayda Yousif (consultant radiologist).
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