Presentation
Mental retardation.
Patient Data
Loading images...
- 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 a hooked appearance. Thalami are globular in appearance.
- Thinned dysgenetic corpus callosum
- 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
- globular appearance of the medulla
- increased rostrocaudal length
Compare the normal shape of basal ganglia and the abnormal shape in our case which appear globular, asymmetric, and dysmorphic with fusion of both head of caudate and putamina. Also the dysgenetic hardly distinct anterior limbs of the internal capsules. The head of caudate protrudes into the frontal horn giving the hooked appearance. Both thalami also appear globular.
Also, note the cerebellar dysplasia with an abnormal orientation of the cerebellar folia and pontine hypoplasia with a central cleft and asymmetric right pontine and right middle cerebellar peduncle thinning.
Case Discussion
The case was proved 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.
- 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
Unable to process the form. Check for errors and try again.