Abstract |
We present the clinical, pathologic, and metabolic findings of an adult woman with debilitating coronary artery disease and hepatosplenomegaly who was discovered to have multiorgan infiltration by sea blue histiocytes. A diagnosis of sea blue histiocyte (SBH) syndrome was made and no further workup performed. The patient suffered from progressive heart failure and sepsis following coronary artery bypass surgery and died 9 months after presentation. Tissues examined at autopsy showed pronounced infiltrates of both granular sea blue histiocytes and foamy, vacuolated histiocytes, which were morphologically compatible with Niemann-Pick cells. Ultrastructural examination of these cells revealed lamellar myelin-like figures as described in Niemann-Pick (N-P) disease. Fibroblast enzyme assay studies and liver lipid analyses performed after the patient's death revealed pronounced sphingomyelinase deficiency and a lipid profile diagnostic of N-P disease, type B. This case adds further support to the claim that some cases of apparent SBH syndrome actually represent a type of N-P disease.
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Authors | S Landas, K Foucar, G N Sando, R Ellefson, H E Hamilton |
Journal | American journal of hematology
(Am J Hematol)
Vol. 20
Issue 4
Pg. 391-400
(Dec 1985)
ISSN: 0361-8609 [Print] United States |
PMID | 4073013
(Publication Type: Case Reports, Journal Article, Research Support, U.S. Gov't, P.H.S.)
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Chemical References |
- Cholesterol Esters
- Lipids
- Phospholipids
- Hydrolases
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Topics |
- Biopsy
- Bone Marrow
(pathology)
- Cholesterol Esters
(analysis)
- Female
- Fibroblasts
(enzymology)
- Humans
- Hydrolases
(analysis)
- Lipids
(analysis)
- Liver
(pathology)
- Middle Aged
- Niemann-Pick Diseases
(diagnosis)
- Phospholipids
(analysis)
- Sea-Blue Histiocyte Syndrome
(diagnosis)
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