The classical example of known disease of GDD with
cerebellar hypoplasia is Joubert Syndrome for which gene has been identified.
Severe cortical malformations, ventriculomegaly,
cerebellar hypoplasia, and abnormal hypodensity of the white matter are other distinctive characteristics (3).
Cerebellar hypoplasia:
Cerebellar hypoplasia is a neurological condition in which the cerebellum is smaller than usual or not completely developed.
Dandy-Walker malformation is defined by enlarged posterior fossa, cystic dilatation of the fourth ventricle, and
cerebellar hypoplasia. Although developmental delay and mental retardation are common in Dandy-Walker malformation cases, other comorbid psychiatric conditions have been rarely reported.
Cerebellar hypoplasia was present in neonates 1 and 2 (Figure 1, panel E) and pachygyria in neonate 3 (Figure 1, panel F).
The diagnosis of DKC requires the classic triad or the presence of one of the triad plus two or more minor features, such as epiphora, blepharitis, premature gray hairs, alopecia, developmental delay, short stature,
cerebellar hypoplasia, microcephaly, esophageal stenosis, urethral stenosis, pulmonary fibrosis, liver disease, avascular necrosis of hips or shoulders, epithelial cancers, myelodysplastic syndrome, and leukemia (4).
(5) In addition to micrencephaly, frequent findings in the brains of fetuses affected by TORCH agents include ventriculomegaly, encephalomalacic pseudocysts, atrophic corpus callosum, polymicrogyria,
cerebellar hypoplasia, and calcifications, which can usually be detected by neuroimaging.
A prenatal ultrasound at 20 weeks revealed enlarged ventricles and enlarged posterior fossa fluid spaces, while a postnatal brain MRI demonstrated a delayed myelination pattern, enlarged gyri,
cerebellar hypoplasia, and enlarged ventricles including lateral, third, and fourth; findings were consistent with Dandy-Walker Malformation.
The diagnosis of PNH mainly relies on brain MRI, which reveals bilateral, nearly contiguous PNH lining the lateral ventricles isolated or associated with thinning of the corpus callosum and malformations of the posterior fossa such as
cerebellar hypoplasia and enlarged cisterna magna.
If a cat is exposed during pregnancy, the virus can cause
cerebellar hypoplasia (brain damage affecting balance and co-ordination) in her offspring.
In most cases, lissencephaly occurs with other brain malformations, such as microcephaly,
cerebellar hypoplasia and hypoplasia of the corpus callosum.
Cerebellar hypoplasia can result from exposure to panleukopenia virus itself or from modified live panleukopenia vaccines given to cats during pregnancy or to kittens before 4 weeks of age.