Megalencephalic leucoencephalopathy with subcortical cysts (Van Der Knaap syndrome)

Case contributed by Dr Mohammad A. ElBeialy

Presentation

Delayed developmental milestones.

Patient Data

Age: 3 years
Gender: Female

  • Bilateral extensive deep white matter T2 hyperinsity is seen involving the subcortical white matter as well as the subcortical U-fibers with relatively large subcortical cysts of CSF signal intensity are seen predominantly in the bilateral frontal as well as anterior temporal lobes. The lesions are seen sparing the basal ganglia as well as both thalami. No pathological enhancement.
  • Mild to moderate dilatation of the ventricular system as well as prominent cortical sulci and basal cisterns.
  • No significant infra-tentorial abnormality.  

Case Discussion

The radiological findings are typical for Megalencephalic leukoencephalopathy with subcortical cyst (MLC) or Van der Knaap syndrome

MLC is a neurodegenerative leukoencephalopathy with genetic mutation affecting astrocyte dysfunction.  It is a rare spongiform leukoencephalopathy with diffuse white matter swelling.

The hallmark of radiological diagnosis is:

  • Subcortical white matter involved early in course of disease with involvement of the subcortical U-fibers.
  • Subcortical cysts especially temporal poles and frontoparietal lobes.
  • The main differential diagnosis is metachromatic leukodystrophy (MLD). However, not all symmetrical leukodystrophies are MLD. If U-fibers or cysts involved, MLC is considered.

 

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Case Information

rID: 39781
Case created: 20th Sep 2015
Last edited: 30th Dec 2015
Inclusion in quiz mode: Included

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