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Article

Atypical presentation of Wolcott-Rallison syndrome with severe Epstein-Barr virus hepatitis, secondary peroxisomal dysfunction and novel neuroimaging features.

BMJ case reports - 24 Aug 2026

Hassoun Mossaab, Malas Ahmad, Khaled Jinane, Hassoun Mohamad

Abstract excerpt

A female toddler born to consanguineous parents presented with severe Epstein-Barr virus hepatitis, hyperferritinaemia and severe neutropenia, initially suggesting haemophagocytic lymphohistiocytosis. Metabolic screening revealed elevated very-long-chain fatty acids and dicarboxylic aciduria, mimicking a peroxisomal disorder. Brain MRI demonstrated cortical thickening and smoothing that were more pronounced in...

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Identifiers

PMID: 42637510
DOI: 10.1136/bcr-2025-269660

Genes

EIF2AK3

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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