Resumo

MATHEW, Denny  e  MAHOMED, Nasreen. Vanishing white matter disease imaged over 3 years. S. Afr. J. radiol. (Online) [online]. 2019, vol.23, n.1, pp.1-4. ISSN 2078-6778.  http://dx.doi.org/10.4102/sajr.v23i1.1661.

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.

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