Table 2:

MR imaging findings in all patients and DTI findings in patient 3

Patient 1Patient 2Patient 3Patient 4Patient 5Patient 6DTI Findings in Patient 3
Cerebellar hemispheresSmallSmallNormal appearanceSmallHypoplastic and dysplasticSmall
VermisModerately hypoplasticHypoplastic and dysplasticNormal appearanceHypoplastic and dysplasticHypoplastic and dysplasticHypoplastic
Fourth ventricleSlightly enlargedSlightly enlargedNormal, partially occupied by the capSlightly enlargedNormal, partially occupied by the capSlightly enlarged
SCPElongatedElongatedElongatedElongatedElongatedElongatedElongated, no decussation
MCPSmallSmallSmallSmallSmallSmallSmall, joined by the EDTB
ICPUnUnUnSmallUnUnUn
PonsHypoplastic, flattening of the ventral aspect, dorsal cap, “horizontal cleft” deformityHypoplastic, flattening of the ventral aspect, dorsal cap, “horizontal cleft” deformityHypoplastic, flattening of the ventral aspect, dorsal cap, “horizontal cleft” deformityHypoplastic, flattening of the ventral aspect, dorsal cap, “horizontal cleft” deformityHypoplastic, flattening of the ventral aspect, dorsal cap, “horizontal cleft” deformityHypoplastic, flattening of the ventral aspect, dorsal cap, “horizontal cleft” deformityEctopic dorsal transverse bundle or tegmental cap, descending long tracts located ventrally to the EDTB
Pontine-mesencephalon junction (isthmus)ThinThickThickThickThickThick
CerebrumNormal appearanceNormal appearanceNormal appearanceNormal appearanceNormal appearanceNormal appearance
Corpus callosumDysmorphicHypoplasticThinHypoplasticHypoplasticDysmorphic
  • Note:—EDTB indicates ectopic dorsal transverse bundle; Un, unidentifiable; DTI, diffusion tensor imaging; SCP, superior cerebellar peduncles; MCP, middle cerebellar penduncles; ICP, inferior cerebellar peduncles.