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Article

A Novel Mutation c.153 C>A in a Tunisian Girl With Wolman Disease and Unusual Presentation: Hemophagocytic Lymphohistiocytosis.

Journal of pediatric hematology/oncology - 1 Apr 2019

Tinsa Faten, Ben Romdhane Manel, Boudabous Hela, Bel Hadj Imen, Brini Ines, Tebib Neji, Louati Hela, Bekri Soumeya, Boussetta Khadija

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Lymphohistiocytosis, Hemophagocytic

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Source

Identifiers

PMID: 29702543
DOI: 10.1097/MPH.0000000000001192

Genes

LIPA

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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