DWM had been diagnosed because of his first cranial MRI (defining hydrocephalus, posterior fossa cyst, and
cerebellar hypoplasia).
E) Brain of neonate 2: symmetric
cerebellar hypoplasia (arrows) and vascular congestion.
The objectives of this study were to describe the clinical-pathological findings related to lissencephaly-pachygyria and
cerebellar hypoplasia observed in a single calf to establish the differential diagnosis with other diseases of the central nervous systems of young cattle.
Kittens with
cerebellar hypoplasia usually appear normal at birth but show signs as soon as they begin to toddle around.
[4] Additional features present are BMF, epithelial cancers, myelodysplastic syndrome, leukemia, epiphora, blepharitis, prematurely gray hair, alopecia, developmental delay, short stature,
cerebellar hypoplasia, microcephaly, esophageal stenosis, urethral stenosis, pulmonary fibrosis, liver disease, and avascular necrosis of hips or shoulders.
[8] Structural malformations of the central nervous system (CNS), including the holoprosencephaly spectrum,
cerebellar hypoplasia and hypogenesis of the corpus callosum are described [1] and occurred in 76% of patients in one series.
The various posterior fossa malformations detected were Dandy Walker malformation (DWM, 1 case), Dandy Walker variant (DWV, 2 cases), mega cisterna magna (MCM, 8 cases), arachnoid cysts (5 cases), Chiari 1 malformation (5 cases), Chairi 2 malformation (2 cases), Joubert malformation (1 case), lipoma (2 cases), vermian and/or
cerebellar hypoplasia without posterior fossa cysts (4 cases).
Five-year-old Daisy suffers from
Cerebellar Hypoplasia, which means the part of her brain that controls her movement and spatial awareness did not fully develop at birth.
The youngster was born with Ponto
Cerebellar Hypoplasia and is unable to walk, talk or feed herself.
Neuroimaging (CT and MRI) findings of Mobius syndrome include hypoplasia of the pons or medulla with correspondent CN6 and CN7 hypoplasia, absence of the medial colliculus at the level of the pons, absence of the hypoglossal prominence suggestive of CN12 nuclei hypoplasia,
cerebellar hypoplasia, depression of the 4th ventricle, and calcification in the pons in the region of the CN6 nuclei.
Apart from the classical triad, additional features include epiphora, blepharitis, premature gray hair, alopecia, developmental delay, short stature,
cerebellar hypoplasia, microcephaly, esophageal stenosis, urethral stenosis, pulmonary fibrosis, liver disease, avascular necrosis of hips (AVN) or shoulders, epithelial cancers, myelodysplastic syndrome (MDS), and leukemia.
Posterior fossa malformations such as
cerebellar hypoplasia are known to be related to developmental problems in a marked to moderate extent.