Table 2.

Summary of the magnetic resonance findings

Magnetic resonance imaging	Case 1/at the age of 10 year	Case 2/at the age of 5 year
Hypomyelination of the cerebellar white matter	Yes	Yes less accentuated
Hypomyelination of middle cerebellar peduncles	Yes	Yes less accentuated
Atrophy of the cerebellar vermis	Yes	No
Atrophy of the cerebellar hemispheres	Yes mild	No
Myelinated dentate nuclei	Yes	Yes less accentuated
Atrophy of the cerebral hemispheres	Yes mild	No
Hypomyelination of the cerebral white matter	Yes	Yes
Myelinated optic radiation	Yes	Yes
Myelinated inferior colliculi	Yes	Yes
T2-hypointense posterior limb of the internal capsules signal	No	No
Corpus callosum unmyelinated	Yes	Yes
Thin corpus callosum	Yes	Yes/partially thin the splenium and isthmus
Polymicrogyria	Yes	Yes
Enlargement of the lateral ventricles	Yes	Yes only trigonum
Basal ganglia atrophy	No	No
Brain stem atrophy	No	No
Pituitary glanda Anterior-posterior/high/lateral in mm	5.5 × 2.6 × 9 below normal values	5.6 ×  3.9  ×  9 in the borderline range

^aGirls before puberty