Case report. Atypical findings in adrenoleukodystrophy

Area of Science:

• Neurology
• Radiology
• Pediatrics

Background:

• Adrenoleukodystrophy (ALD) is a rare genetic disorder affecting the adrenal glands and white matter of the brain.
• Computed tomography (CT) is a key imaging modality for diagnosing and monitoring ALD.
• Understanding the spectrum of CT findings is crucial for accurate diagnosis and management.

Observation:

• A child with typical clinical and biochemical features of ALD underwent CT.
• The CT scan showed striking pathologic enhancement in specific brain regions: centra semiovalia, posterior corpus callosum, and corticospinal tracts.
• Additionally, central calcifications were noted within symmetrical low attenuation lesions in the periatrial white matter.

Findings:

• The observed CT abnormalities, including pathologic enhancement and calcifications, expand the known spectrum of imaging findings in ALD.
• These specific patterns may bridge the gap between previously described CT patterns (Type 1 and Type 11).

Implications:

• These findings enhance the diagnostic criteria for ALD using CT imaging.
• The expanded spectrum of CT abnormalities can aid in differentiating ALD from other white matter disorders.
• Further research may clarify the relationship between these CT patterns and disease progression or subtypes.