Megalencephalic leukoencephalopathy with subcortical and cavum septum pellucidum cysts

Case contributed by Dr. Mohamed Mansour


Delayed milestones with seizures.

Patient Data

Age: 4 years
Gender: Male

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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Case information

rID: 45084
Published: 15th May 2016
Last edited: 14th Aug 2019
Inclusion in quiz mode: Included

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