Leukoencephalopathy / leukodystrophy

Case contributed by A.Prof Frank Gaillard

Presentation

Young adult with gradual deterioration in function. Obstetric history of forceps delivery and mild intellectual disability with Tourette's syndome and obsessive compulsive disorder.

Patient Data

Age: 30 years old
Gender: Male
CT

CT brain

Non contrast CT scan of the brain demonstrates bilateral by left greater than right low density involving the white matter of the parietal, posterior frontal and occipital lobes. The white matter immediately deep to the cortex is involved. There are no calcifications. 

MRI

MRI seven years later (age 37)

MRI of the brain obtained 7 years later confirms the findings seen on CT, and demonstrates significant progression, with marked involvement of most of the supranational white matter which now has CSF signal intensity and attenuates on FLAIR imaging. There is no enhancement. 

Incidental note is made of an azygos anterior cerebral artery, and bilateral globe pathology (phthisis bulbi on the left, retinal detachements on the right), small optic nerves / chiasm and tract. The septum pellucidum is present and normal in appearance. 

CT

CT brain 1 years later still (age 38)

CT of the brain obtained a further year later demonstrates continued progression of the white matter change, now involving the whole supranational brain except for the anterior aspects of the frontal lobes. 

Case Discussion

Genetic testing as not been able to be obtained to date to confirm or exclude a particular diagnosis. The changes are clearly those of a progressive white matter disease. 

Possibilities include:

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Case information

rID: 20862
Case created: 17th Dec 2012
Last edited: 2nd Nov 2015
Inclusion in quiz mode: Included

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