Case contributed by Dalia Ibrahim
Diagnosis certain


Mental retardation.

Patient Data

Age: 30 years
Gender: Male

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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