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Pathological evidence of Wolman's disease following hematopoietic stem cell transplantation despite correction of lysosomal acid lipase activity

Bone Marrow Transplantation volume 44, pages 449–450 (2009)Cite this article

Recently, Tolar et al.1 described four cases of Wolman's disease treated with SCT. In this report, a relatively high mortality rate (2/4) was noted, with the deaths attributed to sinusoidal obstruction syndrome (SOS), multi-organ failure and sepsis in the first case, and hepatic failure and sepsis in the second case.

We report a case of Wolman's disease unsuccessfully treated with SCT at our institution with similar complications of hepatic failure, but determined to be secondary to progressive Wolman's disease rather than SOS. A full-term female infant was admitted on day 50 of life for failure to thrive, presenting with chronic diarrhea, abdominal distension and hepatosplenomegaly. Renal ultrasound identified adrenal calcifications, and analysis of peripheral blood leukocytes showed deficient leukocyte acid lipase (LAL) enzyme activity of 2 pmol/min per mg protein (normal range 20–200 pmol/min per mg protein). Genetic sequence analysis showed compound heterozygosity in the LAL gene, which, together with enzymatic testing, confirmed the diagnosis of Wolman's disease.

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Authors and Affiliations

  1. Division of Pediatric Stem Cell Transplantation, Department of Pediatrics, Stanford University, Palo Alto, CA, USA

    M M Gramatges, K Weinberg & R Agarwal

  2. Division of Pediatric Blood and Marrow Transplant, Department of Pediatrics, University of California, San Francisco, CA, USA

    C C Dvorak

  3. Department of Pathology, Stanford University, Palo Alto, CA, USA

    D P Regula

  4. Department of Genetics, Stanford University, Palo Alto, CA, USA

    G M Enns

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  1. M M Gramatges
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  2. C C Dvorak
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  3. D P Regula
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  5. K Weinberg
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  6. R Agarwal
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Correspondence to R Agarwal.

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Gramatges, M., Dvorak, C., Regula, D. et al. Pathological evidence of Wolman's disease following hematopoietic stem cell transplantation despite correction of lysosomal acid lipase activity. Bone Marrow Transplant 44, 449–450 (2009). https://doi.org/10.1038/bmt.2009.57

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