Case ReportA rare constellation of imaging findings in Wolman disease
Introduction
Bilateral adrenal calcification in infants is an infrequent occurrence and often presents a diagnostic dilemma. Wolman disease is a very rare autosomal recessive lysosomal storage disease that is caused by severe deficiency of lysosomal acid lipase (LAL) enzyme and is fatal within the first year of life. Most literature on the subject describes the characteristic bilaterally enlarged calcified adrenals on imaging. This article presents a rare constellation of other imaging findings in Wolman disease.
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Case report
A 4-month-old male infant patient, an issue of second-degree consanguineous marriage and born normally at full-term, was brought to this hospital with progressive abdominal distension, vomiting and listlessness noted over the last one month. There was no history of fever, diarrhoea or jaundice. The first three months of the baby's life were uneventful with normal weight gain and achievement of milestones. There was no history of similar illness in the family. The baby's parents came from a poor
Discussion
Wolman disease is a very rare autosomal recessive lysosomal storage disease that is caused by severe deficiency of the lysosomal acid lipase (LAL) enzyme and is fatal within the first year of life. It is named after Moshe Wolman, an Israeli neuropathologist.1 The disease is characterized by lipid deposition in multiple organs and was first described in 1956 in an infant who presented with vomiting and pallor and had calcified adrenal glands.1, 2, 3 About 80 cases have been reported globally
Conclusion
Wolman disease is a very rare autosomal recessive lysosomal storage disease caused by the deficiency of lysosomal acid lipase (LAL) enzyme and is fatal within the first year of life. Normal-shaped bilaterally enlarged adrenals with dense cortical calcification and ‘cholesterol clefts’ in Kupffer cells are pathognomonic of this condition and reduced LAL activity in leucocytes and cultured skin fibroblasts is confirmatory.
Conflicts of interest
All authors have none to declare.
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