Revision 8 for 'Megalencephalic leukoencephalopathy with subcortical cysts'

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Van der Knapp disease

Van der Knapp disease refers to a rare 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

Pathology

It is sometimes classified as a megalencephalic leuckoencepalopathy.

Genetics

It is thought to carry an autosomal recessive inheritance 4.

Serology

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. 

Etymology

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

See also

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