A rare hematological manifestation of brucellosis: reactive hemophagocytic syndrome.

Hemophagocytic syndrome (HS) may be primary, or secondary, to malignancy, or to metabolic, collagen vascular, and infectious diseases such as brucellosis, miliary tuberculosis and some viral and fungal infections. The diagnostic findings of HS are high fever, hepatosplenomegaly, cytopenia, high serum ferritin and triglycerides, and low serum fibrinogen levels. Brucellosis is a zoonotic disease, with fever, fatigue, sweating, arthritis, hepatosplenomegaly, lymphadenopathy, and cytopenia being the most common symptoms and findings. Hematological manifestations of the disease may include anemia, leucopenia, leukocytosis, thrombocytopenia, and thrombocytosis. Brucellosis may occur in association with HS. Here, we describe brucellosis associated HS in an 8 year-old male patient. The patient was admitted to our clinic with weight loss, arthralgia, prolonged fever, sweating, and fatigue. Physical and laboratory findings revealed hepatosplenomegaly, pancytopenia, elevated serum transaminases, triglycerides, lactate dehydrogenase, and ferritin, and with erythrocytes, leukocytes, and thrombocytes phagocytosed by macrophages indicating hemophagocytosis. The Brucella agglutination test was positive. The patient improved after treatment with Rifampin (15 mg/kg/day) and trimethoprim-sulfamethoxazole (10 mg/kg/day).

Hydrocephalus with cleft lip and palate: an overlap between midline malformation syndromes.

We present a male infant with hydrocephalus, cleft lip/palate, micrognathia, club foot, laryngeal stenosis and ostium secundum type atrial septal defect. The karyotype was 46 XY. The combination of malformations observed overlaps with the characteristic findings of hydrolethalus syndrome, Meckel syndrome, Smith-Lemli-Opitz syndrome and pseudotrisomy 13. We discussed the differential diagnosis of the case.