[Sea-blue histiocyte syndrome].
The sea-blue histiocyte syndrome, similar to Niemann-Pick disease, is a congenital, hereditary histiolipidosis due to an inborn enzymatic error. Accumulation of non saturated, oxidated, polymerized lipids is observed; ceroids of lipofuscin, glycophospholipids and sphingomyelin, like bulky granules 1 to 3 u in diameter, turn blue with May Grunwald staining, orange reddish with PAS and black with Sudan III and osmic acid. The sea-blue histiocytes are preferably located at the bone marrow, liver and spleen and less frequently in lymph nodes, lungs and some other organs. The prognosis is variable: fatal in the central nervous system location, relatively mild in cases of spleen and bone marrow location. The possibility of complicating hepatic cirrhosis and/or pulmonary fibrosis is always present. Seven cases are described in this paper, 4 of them family related. Acute myelomonocytic leukemia in one case and histioimmunoblastic lymphoma in another were complications not yet reported in the literature.
Etcheverry
R
R
Departamento de Medicina, Facultad de Medicina, Universidad de Chile (División Oriente), Hospital del Salvador.
Daiber
A
A
Boris
E
E
Durán
N
N
D000293:Adolescent; D000328:Adult; D001853:Bone Marrow / Q000473:pathology*; D002648:Child; D003937:Diagnosis, Differential; D005192:Family Health; D005260:Female; D006644:Histiocytes / Q000473:pathology; D006801:Humans; D008103:Liver Cirrhosis / Q000150:complications; D008297:Male; D008854:Microscopy, Electron; D008875:Middle Aged; D011658:Pulmonary Fibrosis / Q000150:complications; D012618:Sea-Blue Histiocyte Syndrome / Q000150:complications / Q000175:diagnosis / Q000473:pathology*; D013194:Staining and Labeling
Síndrome del histiocito azul marino.