Case Report
Unmasking Alagille Syndrome in Adulthood- A Complete Clinical Portrait of a Rare Syndrome
Issue:
Volume 10, Issue 1, June 2026
Pages:
1-4
Received:
20 December 2025
Accepted:
27 January 2026
Published:
14 February 2026
Abstract: Alagille syndrome (ALGS) is a rare autosomal dominant multisystem disorder characterized by marked phenotypic variability, and the diagnosis is sometimes very challenging. We describe a 26-year-old man who presented with progressive jaundice, pruritus, and weight loss over three months, with a history of similar episodes in early childhood. He had previously been diagnosed with atrial septal defect with severe pulmonary stenosis, myopia, and hypothyroidism. After a thorough Clinical examination which revealed icterus, pedal edema, stigmata of chronic liver disease, and characteristic facial dysmorphism with café-au-lait spots, a possibility of Alagille syndrome was considered. Laboratory evaluation showed cholestatic liver dysfunction and pancytopenia. Whole-exome sequencing identified a likely pathogenic JAG1 variant, and liver biopsy confirmed bile duct paucity. This case highlights the diagnostic challenges of ALGS and underscores the importance of meticulous clinical evaluation and comprehensive longitudinal history-taking, as multiple healthcare encounters preceded the correct diagnosis as far as this patient is concerned.
Abstract: Alagille syndrome (ALGS) is a rare autosomal dominant multisystem disorder characterized by marked phenotypic variability, and the diagnosis is sometimes very challenging. We describe a 26-year-old man who presented with progressive jaundice, pruritus, and weight loss over three months, with a history of similar episodes in early childhood. He had ...
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Case Report
An Unusual Case of Ascites: Multicentric Castleman Disease Associated with Poems Syndrome Presenting as High Saag Ascites
Issue:
Volume 10, Issue 1, June 2026
Pages:
5-8
Received:
4 February 2026
Accepted:
26 February 2026
Published:
12 March 2026
DOI:
10.11648/j.ijg.20261001.12
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Abstract: Castleman disease is a rare histopathological entity associated with a variety of lymphoproliferative disorders and autoimmune conditions. The disease can occur in a unicentric form (involving single lymph node group) or multicentric form. While sometimes associated with POEMS syndrome, ascites is not an uncommon association with these disorders. However, the ascites described in association with Castleman disease or POEMS is usually a low SAAG ascites. We report a case with high SAAG ascites as the presenting feature in a patient with POEMS syndrome and multicentric Castleman disease which is quite rare as evidenced by scarcity of literature. Our patient who had presented with ascites, was found to have polyneuropathy, organomegaly (liver and spleen), endocrinopathy (thyroid hormone abnormality), monoclonal gammopathy and skin lesions on evaluation. The scenario was complicated due to a misdiagnosis of tuberculosis from elsewhere and an improper course of antituberculosis treatment. Things fell into place when the diagnosis was confirmed with the histopathological examination of the cervical lymph node biopsy showing hyaline vascular variant of Castleman disease. Thalidomide and its congeners along with steroids have been the mainstay of treatment of this along with stem cell transplantation, while anti IL-6 agents like siltuximab are emerging treatment options. In view of its complexity and the multisystem involvement of this syndrome, it may be easily overlooked or missed if one is not aware or actively looking for the various clinical clues.
Abstract: Castleman disease is a rare histopathological entity associated with a variety of lymphoproliferative disorders and autoimmune conditions. The disease can occur in a unicentric form (involving single lymph node group) or multicentric form. While sometimes associated with POEMS syndrome, ascites is not an uncommon association with these disorders. H...
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,
Sithara Kodapally Balagopal*
