| Autor: |
Antoine Cossette, Julie Castilloux, Chantal Bouffard, Julie Laflamme, Christophe Faure, Sami Benlamlih, Florian Abel, Michael Beecroft, Mira Francis, Régen Drouin |
| Jazyk: |
angličtina |
| Rok vydání: |
2022 |
| Předmět: |
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| Zdroj: |
Can Liver J |
| Popis: |
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; adrenal calcifications; and mild hepatosplenomegaly. Enzyme replacement therapy (ERT) with sebelipase alfa, parenteral nutrition, and a low-fat diet began at age four months. The patient has received sebelipase alfa for >5 years with good tolerability and is thriving, with a body mass index of 16.35 kg/m2 (80th percentile) despite a stature delay (height |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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