Presentation
Squint. Delayed mental and motor milestones.
Patient Data
Age: 5 years
Gender: Female
From the case:
Tubulinopathy
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- 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.
- asymmetric ventriculomegaly
- superior cerebellar vermis hypoplasia
- pontine hypoplasia with central cleft.
- asymmetric inferior cerebellar peduncles
- globular appearance of the medulla with indistinct demarcation of the pyramids and olivary nuclei.
- increased rostrocaudal length
Case Discussion
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 asymmetrical ventriculomegaly.
- Posterior fossa shows:
- hypoplastic superior cerebellar vermis
- globular appearance of the medulla with indistinct demarcation of the pyramids and olivary nuclei
- hypoplastic pons
- asymmetric middle and inferior cerebellar peduncles
This case is courtesy of Dr.Ayda Yosif, MD of radiodiagnosis
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