Early diagnosis and successful long-term management of a rare, severe lysosomal acid lipase deficiency/Wolman disease patient: Infancy to age five.

ABSTRACT:

Background

This report describes a unique case of long-term survival of a young girl who was diagnosed with severe, rapidly progressive lysosomal acid lipase deficiency (LAL-D; historically "Wolman disease") at three months of age and began receiving therapeutic interventions at four months of age. This disease involves rapidly progressive multisystemic impairments and limited survival (6-12 months) without treatment.

Methods

Case report taking into account clinical aspects and patient management including a semi-structured interview with the main family caregiver.

Results

Presentation at two months of age: severe malnutrition and chronic diarrhea; hypoalbuminemia; low iron, vitamin A, and vitamin D levels; high triglyceride levels; profound anemia; thrombocytopenia;

SUBMITTER: Cossette A 

PROVIDER: S-EPMC9473556 | biostudies-literature | 2022 Aug

REPOSITORIES: biostudies-literature