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Genetic and acquired forms of this clinical entity exist. It is associated to the presence of sea-blue histiocytes in the bone marrow and a cholesterol ester storage disease. It is clinically characterized by the presence of splenomegaly, mild thrombocytopenia, and progressive neurological disease (e.g., ataxia, dementia and seizures).

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Sea-Blue Histiocytosis Disease; Niemann-Pick Disease type F.

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The incidence is unknown, however, the presence of sea-blue histiocytes is a common abnormality of the bone marrow in myelodysplastic syndromes.

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Autosomal recessive.

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Unknown. Sea-Blue Histiocytosis syndrome is named for its characteristic macrophage. There are densely packed granules that stain blue with Wright-Giemsa stain. This syndrome is associated with abnormal storage of phosphosphingolipid and glycosphingolipid, which occurs mainly in the spleen and liver.

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Bone marrow examination reveals the characteristic cells. Also, an hepatosplenomegaly workup confirms the diagnosis for hepatosplenomegaly.

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Usually diagnosed before the age of 40 years. Hepatosplenomegaly, thrombocytopenia, macular abnormalities, pulmonary infiltrates on chest radiograph, patchy brownish-gray pigmentation of the upper body, occasional neurologic abnormalities (ataxia, dementia, seizures), predisposition for parasitic infections, and elevated bleeding times in albino patients with normal platelet counts.

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Check platelet count. Document neurologic abnormalities. Platelet availability.

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Avoid central-neuraxial anesthesia in albino patient even with normal platelet counts (increased bleeding times) and patients with thrombocytopenia. Platelets should be transfused if platelet counts is less than 50,000/mm3, in presence of active oozing or bleeding and in Albino patients.

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There are no specific pharmacological implications.

Sawitsky A: The sea-blue histiocyte syndrome, a review: Genetic and biochemical studies. Semin Hematol 9(3):285, 1972.  [PubMed: 4114368]

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