Journal
JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY
Volume 41, Issue 3, Pages E193-E196Publisher
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1097/MPH.0000000000001192
Keywords
Wolman disease; hemophagocytic lymphohistiocytosis; lysosomal storage disease; LIPA gene
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Wolman disease is an ultrarare lysosomal storage disease caused by a mutation in the LIPA gene. The clinical features of Wolman disease include early onset of vomiting, diarrhea, failure to thrive, hepatosplenomegaly, and bilateral adrenal calcification. We report the case of a 3-month-old infant who presented clinical features of hemophagocytic lymphohistiocytosis. Genetic sequence analysis of the LIPA gene revealed homozygous mutation c.153 C>A (p.Tyr51*). The parents were heterozygous for this mutation. Prenatal diagnosis has been carried out in the next pregnancy. To our knowledge, this mutation has never been reported before, and this is an unusual case of secondary hemophagocytic lymphohistiocytosis complicating Wolman disease.
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