Megalencephalic leukoencephalopathy with subcortical and cavum septum pellucidum cysts
Presentation
Delayed milestones with seizures.
Patient Data
Diffuse, low attenuation value of the cerebral white matter with variably sized thin walled parenchymal cysts at the sub-cortical and peri-ventricular regions. The cerebral cortex is dysplastic and thinned out.
A large inter-ventricular triangular cystic structure with its apex directed posteriorly represents a cavum septum pellucidum.
Evidence of right side ventriculo-peritoneal shunting with marked collapse of the lateral ventricles
Case Discussion
Megalencephalic leukoencephalopathy with subcortical cysts, also known as Van der Knaap disease, refers to a rare, inherited, autosomal recessive disease characterized by diffuse subcortical leukoencephalopathy associated with white matter cystic degeneration.
A cavum septum pellucidum cyst is usually triangular in shape with its apex directed posteriorly unlike a cavum velum interpositum cyst which usually points anteriorly.
This patient underwent right-sided ventriculoperitoneal shunting, evident at the axial bone window. This was complicated by secondary intracranial hypotension likely attributed to negative pressure due to over-shunting.
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