XXXX : The King Faisal Specialist Hospital and Research Centre experience.

@entity2315 @entity1 @entity71510 @entity1560 @entity828 @entity67969 @entity730 @entity165
BACKGROUND: @entity67969 is a rare @entity2315 . A recent review indicates that approximately 50 @entity1 have been reported in the world. Reports of @entity1 from the Arabian peninsula are rare due to lack of awareness among pediatricians. @entity1 AND METHODS: We retrospectively reviewed the clinical, radiological, biochemical and histopathological findings of four Saudi @entity1 diagnosed with @entity67969 at King Faisal Specialist Hospital and Research Centre. The diagnosis was confirmed by deficient acid lipase activity in the leukocytes and fibroblasts, which was measured using @entity71510 . RESULTS: All @entity1 were failing to thrive with progressive @entity828 . Abdominal x-ray revealed @entity730 which were confirmed on abdominal CT scan. Peripheral blood film showed vacuolated lymphocytes and the bone marrow aspiration showed foamy histiocytes. Liver biopsy in one @entity1 showed marked @entity1560 and elliptical empty clefs predominantly in the Kupffer cells, indicating @entity165 storage in the reticulo-endothelial cells. The acid lipase activity was less than 6% in all @entity1 . CONCLUSION: In all suspected cases of @entity67969 , a plain abdominal x-ray should be obtained to check for the typical pattern of adrenal calcification characteristic of the disease, especially in any young @entity1 with failure to thrive and progressive @entity828 .
