Joubert syndrome (JS) is a very rare, autosomal-recessive condition. It is characterized by agenesis of cerebellar vermis, abnormal eye movements with nystagmus, episodes of hyperpnea and apnea, delayed generalized motor development, retinal coloboma and dystrophy and, sometimes, multicystic kidney disease. The importance of recognizing JS is related to the outcome and its potential complicatio...

The molar tooth sign is seen in very few conditions and is a very rare paediatric central nervous system congenital anomaly. Molar tooth sign is the result of cerebellar vermis hypoplasia, thick and maloriented superior cerebellar peduncles, and an abnormally deep interpeduncular fossa. In Joubert syndrome this is seen in about 85% of patients. We present a case of 13 months old baby boy with r...

We performed cerebellum segmentation and parcellation on magnetic resonance images from right-handed boys, aged 6-13 years, including 22 boys with autism [16 with language impairment (ALI)], 9 boys with Specific Language Impairment (SLI), and 11 normal controls. Language-impaired groups had reversed asymmetry relative to unimpaired groups in posterior-lateral cerebellar lobule VIIIA (right side...

Lohith et al. (Mol Autism 4:15, 2013) recently identified increased metabotropic glutamate receptor 5 (mGluR5) expression in the frontal cortex (FC) of subjects with fragile X syndrome. These results are consistent with postmortem findings in cerebellar vermis and FC of subjects with autism (Fatemi and Folsom, Mol Autism 2:6, 2011; Fatemi et al. Anat Rec 294:1635-1645, 2011), suggesting that in...

Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder with a wide spectrum of clinical manifestations. BBS is predominantly characterized by dysmorphic distal extremities, obesity, structural abnormalities or functional impairment of the kidney, rod cone dystrophy, and varying degrees of mental retardation. Hypogenitalism is also present, only in males, and in all cases, facial sim...

The Dandy-Walker syndrome (DWS) is a hereditary disorder, appearing somewhat more frequently in women. The most important characteristics of the DWS are the lack of the cerebellar vermis, varying from a partial lack to a complete agenesis, and enlargement of the cerebrospinal spaces, especially in the fourth ventricle. The above mentioned morphological changes clinically manifest in ataxia, inc...

The possible role of the cerebellum for the control of saccades and gaze holding is reconsidered using a computational modeling approach. As suggested by previous research, control of gaze holding is assumed to be enhanced by the floccular lobe, whereas control of the saccadic pulse is governed by the oculomotor vermis and fastigial nucleus. In the present work, a negative feedback loop via the...

Abstract Joubert syndrome (JS) is a rare autosomal recessive disorder. All patients affected by this presented characteristic picture of cranial fossa malformations, called “molar tooth sign.” This sign defined the presence in axial section at level deck/midbrain, hypo/dysplasia cerebellar vermis, abnormally deep interpeduncular and horizontalized thickened elongated superior peduncles. Althoug...

Dandy-Walker Malformation (DWM) is a rare congenital anomaly of the posterior cranial fossa. Features DWM include hypoplasia cerebellar vermis, enlargement fossa, and cystic dilatation fourth ventricle. MRI modality to confirm diagnosis. Treatment usually symptomatic required when signs hydrocephalus develop. Rare cases asymptomatic diagnosed incidentally are reported in literature. We report c...