Clinical insights from Wolman disease: Evaluating infantile hepatosplenomegaly
William B Hannah1, Katherine Ryan2, Surekha Pendyal1
1Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina, USA.
Insights
Wolman disease, a rare lysosomal storage disorder, can present as infantile hepatosplenomegaly. Early diagnosis and enzyme replacement therapy significantly improve outcomes for affected infants.
Area of Science:
- Pediatric Gastroenterology
- Lysosomal Storage Disorders
- Rare Genetic Diseases
Background:
- Infantile hepatosplenomegaly has a broad differential diagnosis, necessitating a structured diagnostic approach.
- Distinguishing between various causes is crucial as some are treatable and can prevent debilitating outcomes.
Observation:
- A case of Wolman disease presenting with hepatosplenomegaly in an infant is detailed.
- Clinical features overlapped with other conditions like hemophagocytic lymphohistiocytosis (HLH).
- Extensive adenopathy with retroperitoneal lymph node biopsy revealed lipid-laden macrophages, cholesterol crystals, and calcifications.
Findings:
- The presented case highlights key diagnostic features of Wolman disease.
- Enzyme replacement therapy led to remarkable clinical improvement in the affected infant.
- Histopathological findings of lipid-laden macrophages and calcifications are characteristic of Wolman disease.
Implications:
- This case underscores the importance of considering Wolman disease in infantile hepatosplenomegaly.
- Early identification and treatment with enzyme replacement therapy can alter the natural history of the disease.
- Understanding these learning points is vital for geneticists, pediatricians, and pediatric subspecialists.
Abstract:
There is a broad differential diagnosis of infantile hepatosplenomegaly, with some etiologies being debilitating and treatable. A structured approach to history, examination, and laboratory and radiographic findings is important in diagnosis. Herein, we present a case of Wolman disease presenting as hepatosplenomegaly in an infant. This case details important learning points to help distinguish the diagnosis of Wolman disease from other conditions with overlapping clinical features, such as hemophagocytic lymphohistiocytosis (HLH). The advent of enzyme replacement therapy has dramatically changed the natural history of Wolman disease, and this child showed remarkable improvement with treatment. This child was later found to have extensive adenopathy with retroperitoneal lymph node biopsy demonstrating diffuse infiltration by lipid-laden macrophages, fatty deposits, cholesterol crystals, and calcifications. Similar to the collection of characteristic cells in other lysosomal storage disorders, we postulate that this is characteristic of underlying Wolman disease. We conclude with a summary of learning points from this presentation on infantile hepatosplenomegaly, pertinent to the geneticist, pediatrician, and pediatric subspecialists.
Related Concept Videos
01:26Diseases of the Liver and Gallbladder
Cirrhosis is characterized by the scarring of hepatic lobules in the liver, which are replaced by fibrous tissue, affecting the liver's normal functioning. NAFLD, on the other hand, is caused by an excessive build-up of fat in the liver, not...
01:22Lysosomal Hydrolases
01:26Nephrotic Syndrome II : Assessment and Medical Management
01:28Esophageal Varices-II: Clinical Features and Management
In the initial assessment, a thorough review of the patient's medical history is vital to identify risk factors such as liver disease, alcohol...
01:33Pleiotropy