A Case Report of Wolman Disease

Posted By Tuan Dao
A Case Report of Wolman Disease

Wolman disease is a rare condition that affects neonates due to an inborn error of lipid metabolism. The disease is usually fatal due to massive accumulation of cholesteryl esters and triglycerides. Radiology plays an important role in the diagnosis of this disease. We present a case of a 1-month-old female who presented with nonspecific clinical symptoms including poor feeding, diarrhea, and weight loss. Imaging revealed characteristic bilateral adrenal enlargement and calcifications with maintenance of adreniform shape suggesting Wolman disease. Bone marrow findings and genetic tests confirmed the diagnosis.

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  • Tuan Dao 2015-06-15 21:02:34

    Wolman disease is estimated to occur in 1 in 350,000 newborns.



    Pubmed search for "wolman disease radiology" doesn't bring up many publications.



    Modalities: plain film, ultrasound, CT. with path slides showing foamy histiocytess.

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  • Roland Talanow 2015-06-15 20:45:16

    How rare is it and how many publications have been in the Radiology literature? What modalities are available? Only CT?

    Thank you.

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  • Tuan Dao 2015-06-15 20:31:53

    Is there any interest in publishing this case? The writeup is ready to go.

    Reply