Presentation
Mental retardation.
Patient Data
basal ganglia asymmetry, dysmorphism with globular appearance. Dysgenetic hardly distinct anterior limbs of both internal capsules with fused caudate and putamen. The caudate protrudes into the frontal horn, giving it a hooked appearance. The thalami are globular in appearance.
ventriculomegaly
cerebellar dysplasia with cerebellar vermis hypoplasia
pontine hypoplasia with a central cleft and asymmetric thinning of the right pons and middle cerebellar peduncle
asymmetric inferior cerebellar peduncles
Case Discussion
The case was proven to be tubulinopathy by genetic testing (not shown).
Tubulinopathy represents a wide spectrum of cortical malformations resulting from defects in genes encoding the tubulin protein, which is needed for the regulation of neuronal migration during brain development.
Our case presents imaging features of tubulinopathy, including:
Supratentorial findings:
-
basal ganglia show:
asymmetry, dysmorphism, and globular appearance
fusion of caudate head and putamen
dysgenetic indistinct anterior limbs of internal capsules
protrusion of the caudate head into the frontal horn, giving the hooked appearance
lateral ventricles show ventriculomegaly
-
the posterior fossa shows:
cerebellar dysplasia with hypoplastic cerebellar vermis
globular appearance of the medulla
hypoplastic pons with central cleft
asymmetric middle and inferior cerebellar peduncles
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