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Title

MALIGNANCY OR IMMUNODEFICIENCY? A CASE PRESENTATION

Writers

SHAFIEI A.R.

Pages

 Start Page 35 | End Page 35

Abstract

 Background: CHEDIAK-HIGASHI SYNDROME (CHS) is a rare primary immunodeficiency. The current treatment consists of hematopoietic stem cell transplantation (HSCT). Untreated patients may experience a lethal malignancy like condition "Hemophagocytic Lympho Histiocytosis (HLH)" Methods: We present here the clinical and laboratorial features of an undiagnosed case of CHS until he presented with lymphoma like symptoms. Changes on his features in response to treatment were compared using linear regression.Findings: The patient was a 3-year-old boy who presented with episodes of unexplained fever, pallor, bilateral cervical masses, and abdominal distention from ten days before admission. He had a history of perianal abscess and recurrent upper respiratory tract infections. On physical examination, he had silvery and metallic sheen hairs. Several cervical lymph nodes, liver and spleen were palpable. Initial laboratory investigations revealed hemoglobin of 9.1g/dl, total leukocyte count (TLC) 10600/ml [neutrophil=16% and lymphocyte=84%] and platelet count of 81000 /ml. CT scan of the abdomen showed hepatosplenomegaly and abdominal lymphadenopathy. The lymph node biopsy was highly suggestive of lymphoreticular neoplasm. The bone marrow biopsy also showed lymphoid cell infiltration and in granulocyte cell domain a few giant granules inside them were seen. In the peripheral blood smear giant granules inside the neutrophils was seen and diagnosis of CHS was confirmed. Regarding to the patient’s conditions, other laboratory measures indicative of ACCELERATED PHASE in CHS were performed. The laboratory findings were hemoglobin=6.3 g/dl, TLC=3000/ml [neutrophil=1% and lymphocyte=90%], platelet=28000/ml, triglyceride=381, total cholesterol=466, ferritin>5000, high AST and ALT (>300) and low fibrinogen levels (fibrinogen=70). The patient fulfilled five out of eight diagnostic criteria of HLH. So, he was diagnosed with ACCELERATED PHASE in CHS and was started on HLH-2004 protocol. After beginning treatment the patient’s conditions improved gradually. Improvement in most clinical and laboratory conditions was significant (p<0.05), but decrease in splenomegaly wasn’t significant statistically. The child now has given HSCT and his condition is good.Conclusion: The diagnosis of CHS should be suspected in patients with lymphoma like symptoms and any history of Partial ALBINISM, recurrent infections, bleeding tendency and neurodegeneration.

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