Table 1.

Index patient’s clinical manifestation and imaging findings in relation to the age at onset.

Age (years)	0.5	2	5	8
Clinical manifestations	• Seizures (generalized tonic-clonic seizures and myoclonias)	Psychomotor delay Spasticity Extensor plantar responses Axial hypotonia	Paraparesis Corneal opacity Increased appendicular tone Hyperactive deep tendon reflexes Babinski sign present	Spastic quadriplegia Flexion contractures (elbow/wrists) Bilateral foot planovalgus
Imaging findings
EEG	Poor organization of the basal activity with superimposed theta activity
CT scan	Third and lateral ventricles dilatation
MRI	Dandy-Walker variant Cerebellar hypoplasia Asymmetric ventriculomegaly Thinning of the corpus callosum and medulla
Visual evoked potentials	Asymmetry in absolute visual latencies

CT scan – computed tomography scan, EEG – electroencephalogram, MRI – magnetic resonance imaging.