Case Report

Vanishing white matter disease imaged over 3 years

Denny Mathew, Nasreen Mahomed
South African Journal of Radiology | Vol 23, No 1 | a1661 | DOI: | © 2019 Denny Mathew, Nasreen Mahomed | This work is licensed under CC Attribution 4.0
Submitted: 03 September 2018 | Published: 27 February 2019

About the author(s)

Denny Mathew, Department of Radiology, University of the Witwatersrand, South Africa
Nasreen Mahomed, Department of Radiology, University of the Witwatersrand, South Africa; Department of Radiology, Rahima Moosa Mother and Child Hospital, South Africa; and South African Society of Paediatric Imaging (SASPI), Cresta, South Africa

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Childhood ataxia and central nervous system hypomyelination (CACH), also known as ‘vanishing white matter disease’ (VWM), is a leukoencephalopathy with autosomal recessive inheritance. It is characterised by normal psychomotor development initially, with an onset of neurological deterioration that follows a chronic and progressive course. Stress conditions such as febrile infections, minor head trauma or even acute fright provoke major episodes of neurological deterioration. We present a case of a 2-year-old child who presented with spasticity and cerebellar ataxia. After magnetic resonance imaging (MRI) of the brain, CACH/VWM was diagnosed on the basis of the typical clinical and MRI findings. As there is no known cure for CACH/VWM, our patient was followed up over 3 years with MRIs of the brain to assess the progressive involvement of the cerebral white matter. In those patients with suggestive or inconclusive MRI findings for CACH/VWM, particularly in the presymptomatic stage and adult onset variants, involvement of the inner rim of the corpus callosum should prompt the inclusion of CACH/VWM in the differential diagnosis. Biochemical markers such as the asialotransferrin:transferrin ratio in the cerebrospinal fluid can also potentially be used as a screening tool in this subset of patients prior to gene mutation analysis.


Childhood ataxia and central nervous system hypomyelination; vanishing white mater


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