Long-term metabolic, endocrine, and neuropsychological outcome of hematopoietic cell transplantation for Wolman disease.

TitleLong-term metabolic, endocrine, and neuropsychological outcome of hematopoietic cell transplantation for Wolman disease.
Publication TypeJournal Article
Year of Publication2009
AuthorsTolar J, Petryk A, Khan K, Bjoraker KJ, Jessurun J, Dolan M, Kivisto T, Charnas L, Shapiro EG, Orchard PJ
JournalBone Marrow Transplant
Volume43
Issue1
Pagination21-7
Date Published2009 Jan
ISSN1476-5365
KeywordsEndocrine System, Female, Gastrointestinal Tract, Hematopoietic Stem Cell Transplantation, Hematopoietic System, Humans, Infant, Infant, Newborn, Liver, Male, Survivors, Wolman Disease
Abstract

Wolman disease is the infantile form of autosomal recessive acid lipase deficiency, typically presenting in early infancy with diarrhea, massive hepatosplenomegaly, failure to thrive, and calcification of adrenal glands. Hematopoietic cell transplantation (HCT) is the only therapy reported to prevent hepatic failure and death, which without treatment occurs within the first year of life. We report a single institution's experience with HCT treatment of four Wolman patients, two of whom are long-term survivors (the longest survival reported to date, (4 and 11 years). Survivors showed resolution of diarrhea within weeks after engraftment, normalized hepatic function, improved hepatosplenomegaly, and in one patient normal adrenal function. The older patient has normal adaptive functions but mild to moderate neurocognitive deficiencies thought to be secondary to treatment and other medical problems. The younger patient has age-appropriate neurodevelopmental and adaptive abilities. We conclude that Wolman disease can be successfully treated with HCT, and that hepatic and cognitive function can be preserved with early diagnosis and timely referral to a transplant center.

DOI10.1038/bmt.2008.273
Alternate JournalBone Marrow Transplant
PubMed ID18776925
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