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).
Sea-Blue Histiocytosis Disease; Niemann-Pick Disease type
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, an 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.
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 is less than 50,000/mm3, in presence of active oozing or bleeding and in
There are no specific pharmacological
Sawitsky A: The sea-blue histiocyte syndrome, a review: Genetic and
biochemical studies. Semin Hematol