An 8-year-old male child, diagnosed case of congenital ichthyosis presented with abdominal distension, hepatomegaly and pancytopenia. His peripheral blood and bone marrow showed clear punched out intracytoplasmic vacuolations in leucocytes (Jordans' anomaly). He had convergent strabismus, ectropion, blepharitis and genu valgum. He was diagnosed as a case of Dorfman-Chanarin syndrome.
A two months old male infant, presented with fever, hepatosplenomegaly and pancytopenia. On bone marrow aspirate, hemophagocytosis was noted. Trephine biopsy showed epithelioid granulomas. ZN stain AFB detected, which confirmed the diagnosis of miliary tuberculosis. This case highlights the rare association of hemophagocytic syndrome with tuberculosis in infancy.
A 45-day-old infant presented with hepatosplenomegaly and fever since 15 days. Hemogram revealed bicytopenia and bone marrow aspirate showed hemophagocytosis. With the history of death of two siblings, the baby was diagnosed with hemophagocytic lymphohistiocytosis (HLH), likely to be of familial origin.
Acquired platelet dysfunction with eosinophilia (APDE) is a syndrome which has transient state of platelet dysfunction in the presence of marked eosinophilia. This bleeding disorder, otherwise known as ''non-thrombocytopenic purpura with eosinophilia'', occurs commonly in children from South-East Asia. We report an 11 years old male child, who presented with ecchymotic patches over lower limbs, of recent onset. His hemogram revealed increased eosinophils with a normal platelet count. Coagulation screen revealed normal parameters except increase in bleeding time. Platelet aggregation studies showed normal platelet aggregation with ristocetin, reduced aggregation with ADP and no aggregation was seen with collagen.
Human babesiosis is a rare disease, caused by Babesia species and commonly transmitted by tick bite. Although human babesiosis is known to be asymptomatic in immunocompetent hosts, clinical cases of severe babesiosis have been reported from splenectomized or immunocompromised individuals. To our knowledge, only one case of human babesiosis in India has been previously reported. Here, we report a case of severe babesiosis with high parasitemia (∼70%) in a 30-year-old asplenic farmer. The patient presented with fever, yellowish discoloration of skin, oliguria, and anemia; he eventually developed multiorgan failure syndrome and died. Peripheral blood films were prepared and used to confirm the presence of piroplasms by microscopy. Total DNA isolated from blood was used for 18S ribosomal RNA gene fragment amplification by polymerase chain reaction, which was subject to Sanger sequencing. Although 18S sequence indicated that the Babesia species infecting the patient was similar to that of other Babesia species originating from wild mammals, species identification could not be done. Phylogenetic analysis revealed that the patient-derived pathogen is distinct because it forms a separate clade in the cladogram.
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