Revision 9 for 'Megalencephalic leukoencephalopathy with subcortical cysts'

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Megalencephalic leukoencephalopathy with subcortical cysts

Megalencephalic leukoencephalopathy with subcortical cysts  or Van der Knapp disease refers to a rare predominantly subcortical diffuse leukoencephalopathy associated with cystic degeneration of the white matter of the brain.

Clinical presentation

Patients typically present with megalencephaly during the 1st year of life


It is sometimes classified as a megalencephalic leuckoencepalopathy.


It is thought to carry an autosomal recessive inheritance 4.


Elevated levels of glycine has been reported in CSF 1.

Radiographic features

MRI Brain

Shows a megalencephalic brain with bilateral cystic lesions of CSF intensity particularly affecting the anterior temporal lobes. There can also be wide diffuse signal abnormality and features of swelling affecting white matter. 


It is named after Marjo van der Knapp - Dutch physician 4

See also

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