For this analysis, 5 animals per group were used for each brain structure of interest: cerebellar vermis
, prefrontal cortex, amygdala, and hippocampus.
Magnetic resonance imaging, axial section evidencing hypoplasia of the cerebellar vermis
Hypoplasia of cerebellar vermis
is observed in both DWM and DWV (14,28).
hypoplasia/aplasia, oligophrenia, ataxia, ocular coloboma and hepatic fibrosis, primary criteria, mental retardation, liver disorder (fibrosis and histological abnormalities), optic nerve or chorioretinal coloboma, nephronophthisis might be present.
Sagittal (b) and coronal (c) spoiled gradient recalled echo (SPGR) imaging at 10 months old showing a nonrecognizable bilateral cerebellar hemisphere and hypoplastic cerebellar vermis
ACC, anterior cingulate cortex; SSAC, somatosensory association cortex; VAC, visual association cortex; CV, cerebellar vermis
; VC, visual cortex; IPL, inferior parietal lobule; FP, frontal pole; IFG, inferior frontal gyrus; PT, pars triangularis; PSMA, premotor area/supplementary motor area; PMC, primary motor cortex; FEF, frontal eye field; dl-PFC, dorsolateral prefrontal cortex; AG, angular gyrus; FC, fusiform gyrus; ITG, inferior temporal gyrus; TP, temporal pole.
Dorsal view of the brain: A= cerebrum, B= optic lobe, C= cerebellum, D= medulla oblongata, 1= vallecula, 2= wulst, 3= dorsal cerebral longitudinal fissure, 4= olfactory nerve, 5= rostral cerebral pole, 6= caudal cerebral pole, 7= dorsal transverse fissure, 8= pineal body, 9= cerebellar vermis
, 10= cerebellar auricle, 11= dorsal medullary fissure.
There is agenesis or dysgenesis of the cerebellar vermis
and isthmic portion of the brainstem.
Familial agenesis of the cerebellar vermis
: a syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation.
Magnetic resonance imaging (MRI) brain scan was performed for further evaluation and revealed a well-defined, curvilinear T1 and T2 hyperintense lesion (measuring 1.2x0.4 cm) in the superior half of the cerebellar vermis
. It appeared hypointense on T1 fat-saturated images, suggestive of fat content (figure 1).
The nodulus was absent in the cerebellar vermis
and the fourth ventricle was enlarged.