Higashi Syndrome

A 27-years-old man was referred to the emergency department of the Tohid hospital of Sanandaj with fever, tachypnea, tachycardia and purulent sputum-producing cough. He mentioned a history of a hereditary disorder from infancy with an initial presentation of recurrent respiratory infection, hepatosplenomegaly, speckled hypopigmentation of face and extremities and strabismus. His two brothers died in infancy due to a similar disorder. On physical examination, hepatosplenomegaly without lymphadenopathy and coarse, bibasilar end-inspiratory crackles were noted. White cell count was 2500 per mm2 , hemoglobin was 8.5 mg/dL and platelet count was 40000 per mm2 . Abdominal ultrasound sonography showed huge splenomegaly (249 mm) and hepatomegaly (172 mm). Based on history, physical examination and pancytopenia, a peripheral blood smear was prepared which showed giant granules in the cytoplasm of neutrophils (Figure 1). Bone marrow aspiration and biopsy were performed that revealed approximately 70 percent cellularity with vacuoles containing large azurophilic granules in myeloid precursor cells without lymphohistocytic infiltration (Figure 2).