Article

Wolman Disease Presenting With HLH Syndrome and a Novel LIPA Gene Variant: a Case-based Review

2022-01-20

Abstract excerpt

<h4>Introduction: </h4> Wolman Disease (WD) is a rare disease caused by the absence of functional liposomal acid lipase (LAL) due to mutations in LIPA gene. It presents with organomegaly, malabsorption and adrenal calcifications. The presentations can resemble Hemophagocytic lymphohistiocytosis (HLH), the life threatening hyper-inflammatory disorder. <h4>Method: </h4> We present a 4.5-month-old boy with fever, ict...

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Literature Corpus work: 4f3a7369-d1cd-5e9c-9440-5600e85e9195
DOI: 10.21203/rs.3.rs-1203156/v1

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