Researchers reported the rare case of an infant with Wolman disease who developed hemophagocytic lymphohistiocytosis, as published in the journal Molecular Genetics and Metabolism Reports. Wolman disease is a severe type of lysosomal acid lipase deficiency (LAL-D).

“Our case shows the importance of an early diagnosis of [Wolman disease],” Federico Baronio, MD, PhD, and the coauthors of the study wrote. “And confirms the difficulty to reach a diagnosis in the hemophagocytic lymphohistiocytosis phenotype.”

The infant was aged 6 months and presented with respiratory insufficiency, diarrhea, abdominal distension, severe hepatosplenomegaly, severe growth retardation, and sepsis. He was diagnosed with hemophagocytic lymphohistiocytosis and treated with intravenous immunoglobulin, steroids, cyclosporine, antimicrobial therapy, and tocilizumab.

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Hemophagocytic lymphohistiocytosis is a life-threatening condition characterized by excessive immune activation, which most frequently affects infants aged 0 to 18 months.

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Due to the presence of adrenal calcification, the researchers suspected Wolman disease. Therefore, they assessed the activity of the patient’s LAL enzyme and analyzed the LIPA gene, which then confirmed the diagnosis of Wolman disease.

The levels of oxysterols cholestan-3β,5α,6β-triol (C-triol), and 7-ketocholesterol were also markedly increased in the patient’s serum. The patient was then treated with sebelipase alfa, an enzyme replacement therapy that provides the body with functional LAL enzymes.

Sebelipase alfa treatment improved the patient’s biochemical and clinical features but he later died of sepsis due to the discontinuation of the treatment as per his parents’ request.

The researchers said that this case study confirms the effectiveness of sebelipase alfa treatment in children with Wolman disease as well. “Further data are necessary to confirm the utility of measuring plasma c-triol as a biochemical marker of the disease,” they wrote.


Baronioa F, Contia F, Miniaci A, et al. Diagnosis, treatment, and follow-up of a case of Wolman disease with hemophagocytic lymphohistiocytosis. Mol Genet Metab. Published online December 20, 2021. doi:10.1016/j.ymgmr.2021.100833