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Case Reports
. 2015 May 12:2015:bcr2015209732.
doi: 10.1136/bcr-2015-209732.

The difficulty in diagnosing X linked adrenoleucodystrophy and the importance of identifying cerebral involvement

Salil Patel  1 , Nicholas Gutowski  2
Affiliations
Case Reports

The difficulty in diagnosing X linked adrenoleucodystrophy and the importance of identifying cerebral involvement

Salil Patel et al. BMJ Case Rep. .

Abstract

Two patients are described, a mother and son, who were initially clinically diagnosed with hereditary spastic paraparesis. This was rectified after very long chain fatty acid testing confirmed adrenomyeloneuropathy (AMN). The son's initial symptoms were characteristic of AMN (the commonest phenotype) but progressed to show symptoms of cerebral involvement. This evolution from non-cerebral to cerebral AMN is recognised in the medical literature and is increasingly important to consider in light of the availability of potential treatments such as haematopoietic stem cell transplantation.

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Figures

Figure 1
Figure 1
Very long chain fatty acid results for patient 1.
Figure 2
Figure 2
The initial and repeat very long chain fatty acid results for patient 2.
Figure 3
Figure 3
A T2-weighted axial MRI brain (patient 2), undertaken in 2013, showing areas of high signal surrounding the occipital horns of the lateral ventricle extending to the splenium of the corpus callosum.
Figure 4
Figure 4
MRI brain (patient 2) undertaken in 2014: (A and B) T2-weighted axial views showing slight progression of white matter signal abnormalities. (C) Fluid-attenuated inversion recovery coronal scan with prominent periventricular rim hyper-intensity. (D) Gadolinium-enhanced T1-weighted axial scan with an area of increased enhancement (indicated by the arrow).
See this image and copyright information in PMC

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