Expanding the spectrum of XXXX of the diencephalic-mesencephalic junction.

@entity1 @entity154 @entity3308 @entity3520 @entity1640 @entity75 @entity16 @entity245 @entity302
INTRODUCTION: We aimed to describe the clinico-radiological findings of @entity1 with disorders of diencephalic-mesencephalic junction (DMJ) formation and midbrain anteroposterior patterning. METHODS: We reviewed the DMJ anatomy of 445 @entity1 with @entity75 . Associated supra/infratentorial abnormalities and clinical findings were noted. Craniocaudal and anteroposterior diameters of midbrain, pons, medulla, vermis, and transverse cerebellar diameter were compared with age-matched controls. Post hoc tests were corrected according to Bonferroni (p B). RESULTS: Two patterns of @entity3308 were identified in 12 @entity1 (7 females, mean age 41  months). Type A was characterized by hypothalamic-mesencephalic fusion on axial plane, with possible midbrain ventral cleft (7 @entity1 ). Anteroposterior (p B   =   .006) and craniocaudal (p B   =   .027) diameters of the pons, craniocaudal diameter of the vermis (p B   =   .015), and transverse cerebellar diameter (p B   =   .011) were smaller than the controls. Corticospinal tract, basal ganglia, and commissural anomalies were also associated. Clinical findings included @entity3520 , @entity1640 , @entity302 , and severe @entity245 . Type B was characterized by incomplete thalamic-mesencephalic cleavage on sagittal plane, with parenchymal bands connecting the interthalamic adhesion with the midbrain (five @entity1 ). Anteroposterior diameters of midbrain (p B   =   .002), pons (p B   =   .0004), and medulla (p B   =   .002) as well as the vermian anteroposterior (p B   =   .040) and craniocaudal diameters (p B   =   .014) were smaller than the controls. These @entity1 were @entity16 , most presenting mild @entity245 . CONCLUSIONS: The spectrum of DMJ patterning defects is wide and may be associated with several @entity75 . Infratentorial brain structures should be carefully evaluated to better define the type of associated @entity154 .
