Ultrasonographic findings in hyperimmunoglobulin D syndrome: a case report

Laura Otilia Damian, Otilia Fufezan, Mihaela Farcău, Simona Tătar, Călin Lazăr, Dorin-Ioan Farcău


Hyperimmunoglobulin D syndrome due to mevalonate kinase deficiency is a rare autoinflammatory disease with digestive tract involvement. We report an 11-year female child who has presented since the age of 1 year, bouts of fever, rash, joint swelling, pulmonary consolidation, lymph node involvement and hepatosplenomegaly. Hyperimmunglobulin D and increased urinary mevalonic acid were detected. The ultrasonographic features of hepatosplenomegaly ranged from increment in size to pseudotumoral involvement, with hypoechogenic masses without apparent wall. Abdominal CT during a disease flare showed hypodense, hypoenhancing nodular lesions, suggesting metastases. Nevertheless, a thorough search for malignancy was negative and the masses disappeared after the flare. Mevalonate kinase deficiency may add to the causes of hepatosplenic and pulmonary inflammatory pseudotumors.


hyperimmunoglobulinemia D; mevalonate kinase deficiency; inflammatory pseudotumor; pulmonary ultrasonography

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DOI: http://dx.doi.org/10.11152/mu-889


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