Iron deposit central large nodule in Alagille syndrome
Alagille syndrome (ALGS) is a multisystem autosomal dominant disorder attributed to defects in the Notch signaling pathway. The mutation of Jagged 1 (JAG1) gene on chromosome 20 has been identified as the underlying cause of this syndrome. In addition, the mutation of Ryanodine receptor 2 (RYR2) gene on chromosome 1 has clarified. Here described is a 7 × 5 cm nodular lesion in segment 4 in a 28-year-old man with ALGS. Through imaging studies and histopathological analysis, the nodule was diagnosed, for the first time, as iron deposit giant nodule. Additionally, a review of previous reports has been made to shed more light on this syndrome.
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