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Adrenoleukodystrophy: new CT findings.

Y Inoue, T Fukuda, S Takashima

AJNR. American Journal of Neuroradiology

|July 1, 1983

Summary

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Computed tomography (CT) revealed unusual features in three adrenoleukodystrophy cases. Findings included calcification and mass effect in white matter, potentially aiding diagnosis.

Area of Science:

Neurology
Radiology
Medical Imaging

Background:

Adrenoleukodystrophy (ALD) is an inherited metabolic disorder affecting the adrenal glands and white matter of the central nervous system.
Computed tomography (CT) is a key imaging modality for diagnosing and monitoring neurological conditions, including ALD.
Previous CT studies in ALD have identified characteristic patterns of white matter involvement.

Observation:

This study presents sequential CT findings in three pediatric patients diagnosed with adrenoleukodystrophy.
Two cases demonstrated typical caudocranial progression of low-density white matter and peripheral contrast enhancement.
Unusual findings included calcification within affected white matter and mass effect during active demyelination.

Findings:

Related Experiment Videos

CT imaging revealed calcification in the white matter adjacent to the lateral ventricles in two ALD cases.

A significant mass effect was observed during the active demyelinating phase in two patients.

In one case, initial CT presentation solely consisted of periventricular calcification without apparent low-density white matter changes.

Implications:

Periventricular calcification on CT may be a specific imaging biomarker for adrenoleukodystrophy, particularly in clinically suggestive cases.
The identification of calcification and mass effect expands the spectrum of CT findings in ALD.
These observations can improve the diagnostic accuracy and early detection of adrenoleukodystrophy through advanced neuroimaging analysis.