[Role of splenectomy in Chediak-Higashi syndrome in its accelerated phase].
Chediak-Higashi (C.H.S.) syndrome is a rare immunodeficiency, due to defective granulocyte activity. The syndrome is characterized by large inclusion bodies in the leukocytes, albinism, photophobia, nystagmus, and recurrent infections. Some patients develop hepatosplenomegaly, lymphadenopathy, pancytopenia and widespread organ infiltrates with mononucleated cells. This phase is called "accelerated (or lymphoma-like syndrome) phase". A 5 years old girl with C.H.S. in accelerated phase received initially medical treatment without improvement. A splenectomy was performed to remove the hypersplenism and the mechanical compression of the spleen on the gut. Few days after the splenectomy the fever and the pancytopenia disappeared. The pathological examination of the spleen showed multiple intraparenchymal abscesses. Unfortunately, six months after the operation, she died after an acute episode of pneumonia, with normal hematological pattern. The splenectomy may play a role in the "accelerated phase" of C.H.S., but new treatments (bone marrow transplantation) are necessary to remove the basic disease.
D002609:Chediak-Higashi Syndrome / Q000473:pathology / Q000601:surgery*; D002648:Child; D005260:Female; D006801:Humans; D013156:Splenectomy; D013163:Splenomegaly / Q000473:pathology
Ruolo della splenectomia nella sindrome di Chediak-Higashi (SCH) in fase accelerata.