Vanishing white matter disease

Case contributed by Dr Thandi E Buthelezi


A 10 month old baby girl who presented with milestone regression.

Patient Data

Age: 10 months
Gender: Female

MRI Brain demonstrates bilateral, symmetrical and diffuse cystic changes, with areas of confluence, involving the cerebral periventricular white matter and corpus callosum. There is sparing of subcortical white matter. No sub-cortical cysts. Optic nerves were normal and symmetrical.

Case Discussion

The diagnosis of vanishing white matter disease was made based on radiological and clinical findings. Genetic studies were not done.

Vanishing white matter disease (VWM) is an autosomal recessive disorder. The clinical presentation includes truncal ataxia and spasticity. Seizures 1 may also be occur. Minor head trauma and infection may precede the disease 2


  1. Infantile: < 1 year. Severe form.
  2. Early childhood onset: 1 - 5 years
  3. Juvenile onset: 5 - 15 years
  4. Adult onset: >15years


  • MRI: Modality of choice. Diffuse, symmetrical and progressive involvement of cerebral white matter with cystic changes, following CSF signal. Low signal intensity on T1W and high signal intensity on T2W sequences. Flair sequence shows white matter high signal intensity with patchy areas of low CSF signal intensity 2. T1W and Flair sequences demonstrate a radiating appearance of the fine network of remaining white matter strands best appreciated on the sagittal and the coronal views 1. Basal ganglia are spared 2.

Differential Diagnosis 1,2

  • Alexander disease: Predominantly frontal lobe white matter, basal ganglia and thalamic involvement. There is a typical pattern of enhancement post contrast
  • megalencephalic leukoencephaphathy with subcortical cysts (MLC): Macrocephaly. Subcortical cysts are common
  • other leukodystrophies 1,2

Associations 1

  • Optic atrophy - variable 2
  • Ovarian failure - may be seen all types and results in ovarioleukodystrophy syndrome


Genetic testing 1, and/or  MRI findings with typical clinical presentation 2.

Management 1



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Case information

rID: 40016
Published: 7th Oct 2015
Last edited: 14th Aug 2019
Inclusion in quiz mode: Included

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