Sea-Blue Histiocytosis Syndrome

At a glance

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.

Synonyms

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

Incidence

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

Genetic inheritance

Autosomal recessive.

Pathophysiology

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.

Diagnosis

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

Clinical aspects

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.

Anesthetic considerations

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.

Pharmacological implications

There are no specific pharmacological implications.

References