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[Wolman's disease in an infant]
W Storm1, U Wendel, M Sprenkamp
1Kinderklinik, St. Vincenz-Krankenhaus, Paderborn.
Insights
Wolman's disease, a rare inherited lipid metabolism disorder, involves visceral organ accumulation of fats. Early diagnosis in infants is crucial for managing symptoms like hepatosplenomegaly and adrenal calcifications.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- Wolman's disease is a rare inherited disorder affecting lipid metabolism.
- Characterized by accumulation of triglycerides and cholesteryl esters in visceral organs.
Observation:
- A case study of a female Turkish infant with Wolman's disease is presented.
- Initial symptoms included feeding difficulties, vomiting, abdominal distension, and transient swelling.
- Readmission at 4.5 months revealed severe hepatosplenomegaly, anemia, and fever.
Findings:
- Radiological evidence of adrenal calcifications and lymphocytic vacuoles were key diagnostic indicators.
- Deficiency in acid lipase activity in leukocytes confirmed the diagnosis of Wolman's disease.
Implications:
- Highlights the importance of recognizing early clinical signs for timely diagnosis.
- Emphasizes the role of biochemical testing in confirming rare inherited metabolic disorders.
- Provides insights into the clinical course and diagnostic markers of infantile Wolman's disease.
Abstract:
Wolman's disease is a rare inherited disorder of lipid metabolism in which large amounts of triglycerides and cholesteryl esters accumulate in the visceral organs. The main clinical features of the infantile form of the disease are failure to thrive, vomiting and diarrhoea, hepatosplenomegaly and radiological evidence of calcification of the adrenals. We were able to follow the course of this disease in a female turkish infant. It was first admitted because of a transient swelling within the right angle of mandible, subfebrile temperatures and abdominal distension as well as vomiting at the age of three days. After symptomatic treatment she was discharged home without a specific diagnosis. At the age of 4.5 months she was readmitted with severe hepatosplenomegaly, hypochromic anemia and fever of unknown origin. Calcifications of the adrenals and lymphocytic vacuoles led to the diagnosis of Wolman's disease. Deficiency of acid lipase activity in leucocytes could establish this diagnosis.