title: Adult Niemann-Pick disease masquerading as sea blue histiocyte syndrome: report of a case confirmed by lipid analysis and enzyme assays.
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.
mesh_terms: D001706:Biopsy; D001853:Bone Marrow / Q000473:pathology; D002788:Cholesterol Esters / Q000032:analysis; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D006867:Hydrolases / Q000032:analysis; D008055:Lipids / Q000032:analysis; D008099:Liver / Q000473:pathology; D008875:Middle Aged; D009542:Niemann-Pick Diseases / Q000175:diagnosis*; D010743:Phospholipids / Q000032:analysis; D012618:Sea-Blue Histiocyte Syndrome / Q000175:diagnosis*
chemical_list: D002788:Cholesterol Esters; D008055:Lipids; D010743:Phospholipids; D006867:Hydrolases