Wolman Disease: A Mimic of Infant Leukemia.

Journal Article (Journal Article)

BACKGROUND: Infant leukemia most commonly present with pallor and hepatosplenomegaly. The possibility of other differential diagnosis also has to be kept in mind during evaluation, as identifying the precise etiology for this clinical presentation is crucial for management. OBSERVATION: An infant, was referred to us with suspected infant leukemia and was subsequently diagnosed to have lysosomal acid lipase deficiency/Wolman disease with a novel 5 bp deletion "c.1180_1184del" in the last exon (exon 10) of the lipase A (LIPA) gene. CONCLUSIONS: Hepatosplenomegaly and pallor resulting from nutritional deficiency or bone marrow involvement in Wolman disease can mimic infant leukemia.

Full Text

Duke Authors

Cited Authors

  • Gopakumar, KG; Thankamony, P; Nampoothiri, S; Bali, D; Raj, J; A Vasudevan, J; K Nair, R

Published Date

  • November 2017

Published In

Volume / Issue

  • 39 / 8

Start / End Page

  • e489 - e492

PubMed ID

  • 28538091

Electronic International Standard Serial Number (EISSN)

  • 1536-3678

Digital Object Identifier (DOI)

  • 10.1097/MPH.0000000000000861


  • eng

Conference Location

  • United States