Presentation
Seizures and delayed meeting of developmental milestones.
Patient Data
Brain MRI (seizure protocol with pre and post-contrast sequences)
Diffuse, bilaterally symmetric abnormal T2/FLAIR subcortical and deep white matter hyperintensity centered in the posterior and inferior cerebrum (parietal, temporal, occipital lobes), and involving the corpus callosum (posterior body and splenium), with thin peripheral/”leading edge” enhancement and diffusion restriction. Frontal involvement is also noted, with high signal in the precentral gyri bilaterally, and enhancement/signal change in the anterior commissure. Bilateral T2 high signal also follows white matter tracks in the thalami, posterior margins of the internal capsules, and brainstem (midbrain, pons, and medulla), some along the corticospinal tracts. The involved cerebral area show trizonal distribution, as has been described with adrenoleukodystrophy, with a central zone of marked T1 hypo/T2 hyperintensity, intermediate zone of less intense signal changes, and peripheral zone of enhancement. Mild mesiotemporal signal changes also noted.
The signal intensity of the cerebellum is within normal limits. No evidence of acute intracranial bleeding, recent infarct, brain parenchymal hemosiderin staining, or hydrocephalus is seen. The basal cisterns are patent. The cerebral sulci and ventricles are normal in size for the patient's age. No abnormal extra-axial fluid collection is visible. Flow voids of the major intracranial vessels appear grossly preserved.
Midline structures such as the perichiasmal optic nerves/tracts, pituitary gland and olfactory bulbs appear grossly normally formed. Myelination pattern (away from the signal changes) is normal for age. No migrational anomaly/cortical dysplasia are apparent. No mesiotemporal sclerosis is seen.
The mastoid air cells are mostly clear, with trace opacification on the right. Mild paranasal sinus mucosal thickening. No gross orbital mass. Mild bilateral perioptic CSF prominence is non-specific. Moderate adenoidal and palatine tonsillar prominence.
Case Discussion
Abnormal, bilaterally symmetric “butterfly-shaped” diffuse subcortical and deep white matter T2/FLAIR high signal centered in the posterior and inferior cerebrum, involving white matter tracts, including the corpus callosum, and with leading edge enhancement (active demyelination) in a young male patient, typical for adrenoleukodystrophy.
The differential diagnosis of dysmyelinating white matter disease includes:
- metachromatic leukodystrophy bilateral symmetrical and confluent periventricular deep white matter lesions sparing the subcortical U-fibers particularly around the frontal horns and atria with characteristic butterfly pattern.
- Alexander disease: with predominant frontal involvement and then progression posteriorly.
- Canavan disease: diffuse, bilateral with involvement of the subcortical U-fibers as well as macrocephaly and markedly increased NAA and NAA/Cr ratio on MRS.
The case is courtesy of Dr Hassana Ibrahim and Dr Mohammed A ElBeilay.
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