Vanishing white matter disease imaged over 3 years
SA Journal of Radiology
| Field | Value | |
| Title | Vanishing white matter disease imaged over 3 years | |
| Creator | Mathew, Denny Mahomed, Nasreen | |
| Description | 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. | |
| Publisher | AOSIS | |
| Date | 2019-02-27 | |
| Identifier | 10.4102/sajr.v23i1.1661 | |
| Source | South African Journal of Radiology; Vol 23, No 1 (2019); 4 pages 2078-6778 1027-202X | |
| Language | eng | |
| Relation |
The following web links (URLs) may trigger a file download or direct you to an alternative webpage to gain access to a publication file format of the published article:
https://sajr.org.za/index.php/sajr/article/view/1661/2203
https://sajr.org.za/index.php/sajr/article/view/1661/2202
https://sajr.org.za/index.php/sajr/article/view/1661/2204
https://sajr.org.za/index.php/sajr/article/view/1661/2200
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