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Successful matched unrelated donor hematopoietic stem cell transplantation for infantile Wolman disease
Pediatric Hematology Oncology Journal ; 8(1):1-3, 2023.
Article in English | Scopus | ID: covidwho-2315708
ABSTRACT

Introduction:

Wolman disease is a rare genetic disorder with an autosomal recessive inheritance. A mutation in the LIPA gene causes lysosomal acid lipase (LAL) deficiency results in lipid storage and adrenal insufficiency. Death in early infancy is due to liver failure. Patients and

methods:

We describe the clinical course of a three-month-old infant diagnosed with Wolman disease. A rapid mutational analysis confirmed a LIPA gene defect.

Results:

He underwent matched unrelated donor peripheral blood stem cell hematopoietic stem cell transplantation (HSCT) at 3 months of age, with a treosulfan-based conditioning, which resulted in engraftment with donor-derived hematopoietic cells. He required supportive care for sinusoidal obstruction syndrome and mucositis. He was administered low dose prednisolone for grade I skin graft versus host disease, and a complete donor chimerism was documented on several occasions. At one year post HSCT, his growth and development were optimal, and there was no hepatosplenomegaly. He is maintained on glucocorticoid and mineralocorticoid supplements for primary hypoaldosteronism.

Conclusion:

The case emphasizes the timely diagnosis and the potential for successful treatment of Wolman disease by HSCT. © 2022 Pediatric Hematology Oncology Chapter of Indian Academy of Pediatrics
Keywords
HSCT; Infant; Lysosomal acid lipase deficiency; Primary hypoaldosteronism; Wolman disease; acid lipase; aldosterone; amino acid; CD34 antigen; cholesterol; corticosteroid; cyclosporine; electrolyte; ethambutol; fludarabine; fludrocortisone; glucose; horse thymocyte antibody; hydrocortisone; isoniazid; levofloxacin; lysosomal acid lipase; methotrexate; prednisolone; renin; rifampicin; thiotepa; thymocyte antibody; treosulfan; triacylglycerol; unclassified drug; abdominal distension; abscess; Article; blood group incompatibility; body weight gain; body weight loss; breast feeding; case report; chimera; chronic disease; clinical article; coronavirus disease 2019; diagnostic procedure; diarrhea; dietary pattern; donor chimerism; donor derived hematopoietic cell; drug dose titration; edema; engraftment; erythrocyte transfusion; female; fine needle aspiration biopsy; follow up; grade 1 skin graft versus host reaction; graft versus host reaction; health status; hematopoietic stem cell; hematopoietic stem cell transplantation; history of failure to thrive; human; human tissue; hyperkalemia; hypoaldosteronism; hyponatremia; infantile wolman disease; liver function test; liver venoocclusive disease; loose feces; low drug dose; male; matched unrelated donor; medical history; mortality; mucosa inflammation; mutational analysis; Mycobacterium tuberculosis; myeloablative conditioning; neutrophil engraftment; performance status; peripheral blood stem cell; platelet count; potassium urine level; reverse transcription polymerase chain reaction; sibling; sodium urine level; transplant screening; tuberculosis; urine osmolarity; weaning diet

Full text: Available Collection: Databases of international organizations Database: Scopus Language: English Journal: Pediatric Hematology Oncology Journal Year: 2023 Document Type: Article

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Full text: Available Collection: Databases of international organizations Database: Scopus Language: English Journal: Pediatric Hematology Oncology Journal Year: 2023 Document Type: Article