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Papillary Necrosis
Joseph Junewick, MD FACR
over 6 years ago
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Adrenoleukodystrophy

Case Detail

Anatomy: Brain-Spine
Junewick
Joseph Junewick, MD FACR
Diagnostic Category: Genetic
Created: over 4 years ago
Updated: over 4 years ago
Tags: PEDS
Modality/Study Types: MR
Activities:
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History

8 year old with acute onset of visual deficit.


Case Images


Diagnosis

Adrenoleukodyastrophy

Findings

MR – Serial axial T2 images show confluent and symmetric bilateral hyperintense areas in the parieto-occipital deep white matter, the splenium of the corpus callosum, the acoustic radiation, and lateral lemniscus. Post-gadolinium axial T1 images show strong enhancement in the middle layer.

Discussion

Adrenoleukodystrophy is an X-linked inherited perioxisomal disorder characterized by dysfunctions of the central nervous system, adrenal glands, and testicles related to excessive accumulation of very long chain fatty acid in tissues and plasma. Behavioral changes including memory impairment and emotional instability manifest to varying degrees, followed by progressive deterioration of the vision, hearing, and motor function. CNS lesions are dominant and include extensive demyelination in the periventricular deep white matter, cavitation, and perivascular lymphocytic infiltrates; subcortical u-fibers and cortex are spared. It has been postulated that demyelinating inflammation is mediated by cytokines. Affected white matter of the brain is divided histopathologically into three distinct zones: an outermost zone (Schaumburg zone 1), showing active destruction of the myelin sheath and lack of perivascular inflammatory cells; a middle layer zone (Schaumburg zone 2), showing perivascular inflammatory cells and demyelination with preservation of axons; and a central zone (Schaumburg zone 3), showing gliosis and scattered astrocytes with absence of oligodendroglia, axons, myelin, and inflammatory cells.

Reference

McKinney AM, Nascene D, Miller WP, et al Childhood cerebral x-linked adrenoleukodystrophy: Diffusion tensor imaging measurements for prediction o clinical outcome after hematopoietic stem cell transplantation. AJNR (2013); 34:641-649.

Kim JH, Kim HJ. Childhood X-linked Adrenoleukodystrophy: Clinical-Pathologic Overview and MR Imaging Manifestations at Initial Evaluation and Follow-up. Radiographics (2005); 25: 619-631.



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