ArticleRadiology case reports2021
CT features of Wolman disease (lysosomal acid lipase enzyme deficiency) - A case report.
Article in Radiology case reports, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed.
- Bilateral Adrenal Calcifications as an Imaging Clue to Wolman Disease in Early Infancy: A Case Report.Cureus · 2026Article
- The transcription factor HHEX maintains glucocorticoid levels and protects adrenals from androgen-induced lipid depletion.Nature communications · 2026Article
- Review
- Lysosomal Acid Lipase Deficiency: Genetics, Screening, and Preclinical Study.International journal of molecular sciences · 2022Review
Corrections and comments
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Authors and funding
2 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Wolman disease is a lethal rare autosomal recessive disorder defined by the deficiency of acid lipase enzyme. The disease is a lysosomal storage disease. Multiple organs such as adrenal glands, liver, spleen, bone marrow, small bowel loops, and abdominal lymph nodes are infiltrated by the deposition of lipids. Infants generally present with failure to thrive, abdominal distention, vomiting, steatorrhea, and hepatosplenomegaly. Authors' present a 1 month-old male infant with abdominal distention and failure to thrive who was referred for abdomen CT scan. The CT scan revealed stippled calcifications of both enlarged adrenal glands, without the distortion of the adreniform shape, fatty liver, splenomegaly and thickened small bowel loops; characteristic imaging findings of Wolman disease. CT scan is the imaging modality of choice for the recognition of the disease. There is no definite cure explained yet. Further studies are required to find the definite treatment of the disease.
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Registered trials
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