Wolman disease is characterized by severe diarrhea and malnutrition leading to death during infancy. Lysosomal acid lipase deficiency is the cause of the symptoms and signs. It is inherited in an autosomal recessive manner. All Wolman disease patients have adrenal gland calcification. Previous therapeutic attempts have failed to provide remission. We report successful long-term bone marrow engraftment in a patient with Wolman disease resulting in continued normalization of peripheral leukocyte lysosomal acid lipase enzyme activity. Diarrhea is no longer present. Now, at 4 years of age, this patient is gaining developmental milestones. Cholesterol and triglyceride levels are normal. Liver function is normal. This is the first long-term continued remission reported for Wolman disease.
Bibliographical noteFunding Information:
This work was supported in part by NIH NS-29099 Study of Value of Bone Marrow Transplantation for Storage Diseases (WK) and Children’s Cancer Research Fund, University of Minnesota (WK, CP).
- Bone marrow transplantation
- Lysosomal acid lipase
- Wolman disease