Genetic and acquired rare condition characterized by the presence of splenomegaly, mild thrombocytopenia, and progressive neurological disease (eg, ataxia, dementia and seizures). Morphological finding of sea-blue histiocytes in the bone marrow due to lipid storage diseases or hematological diseases.
Sea-Blue Histiocytosis Disease; Niemann-Pick Disease Type F.
The incidence is unknown; however, the presence of sea-blue histiocytes is a common abnormality of the bone marrow in myelodysplastic syndromes.
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.
Bone marrow examination reveals the characteristic cells. Also, a hepatosplenomegaly workup confirms the diagnosis for hepatosplenomegaly.
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.
Precautions before anesthesia
Check platelet count. Document neurologic abnormalities. Platelet availability.
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 are less than 50,000/mm3, in presence of active oozing or bleeding and in albino patients.
There are no specific pharmacological implications.
MJ: Sea-blue histiocytosis in bone marrow of a patient with chronic thrombocytopenia. Acta Haematol
A: The sea-blue histiocyte syndrome, a review: Genetic and biochemical studies. Semin Hematol
DS: Fish oil lipid emulsion-associated sea-blue histiocyte syndrome in a pediatric patient. J Pediatr Pharmacol Ther