An eight-week-old female Cocker Spaniel was presented with ataxia, dysmetria and intention tremor. At 16 weeks, the clinical signs did not progress. Investigation including imaging studies of the skull and cerebrospinal fluid analysis were performed. The computed tomography revealed a cyst-like dilation at the level of the fourth ventricle associated with vermal defect in the cerebellum. After ...

The clinical and neuroradiologic features in 22 patients with septooptic dysplasia are reviewed. The most consistent abnormality seen in 15 patients was absence of the septum pellucidum and flattening of the roofs and inferior pointing of the floors of the anterior horns of the lateral ventricles. Hypoplasia of the anterior optic pathways was seen in 10 patients and a primitive optic ventricle ...

Pontine tegmental cap dysplasia is a rare neurologic condition first described by Barth et al. in 2007. It is characterized by a vaulted pontine tegmentum projecting into the fourth ventricle and ventral pontine hypoplasia. Patients present with developmental delay, cerebellar and pyramidal abnormalities, cranial nerve dysfunction, and various extracranial malformations. The condition is though...

Hypoplastic left heart syndrome (HLHS) is one of the most severe congenital heart defects, accounting for 20% to 25% of mortality in infants born with congenital heart disease. In the United States, 2000 infants are born each year with HLHS.1 To date, there is a paucity of studies that define the underlying genetic, molecular and cellular mechanisms of HLHS.2–4 Most cases of HLHS are thought to...

Two siblings are described with clinical features of the Joubert-Boltshauser syndrome. Both had polydactyly and one had fleshy tumours of the tongue. Computed tomography of the brain showed hypoplasia of the cerebellar vermis, associated in one case with a cyst of the fourth ventricle.