Idiopathic myelofibrosis occurs predominantly in older adults. It is very rarely seen in children. We describe a 3-year-old girl with Down's syndrome who presented with recurrent chest infections associated with anaemia and easy bruising. There was mild hepatosplenomegaly. Full blood picture revealed pancytopaenia with leucoerythroblastosis with absence of circulating blast cells. Repeated attempts at bone marrow aspiration and trephine biopsy were unsuccessful. A trephine biopsy from the tibia showed depressed myelopoiesis and erythropoiesis, megakaryocytes with atypical morphology and increased bone marrow reticulin fibres, findings compatible with idiopathic myelofibrosis. She was treated symptomatically as she was clinically stable. Review of the English literature online yielded 46 reported cases of childhood idiopathic myelofibrosis with variable outcome from spontaneous remission to an indolent course with shortened survival. 6 cases evolved to another malignancy. 5 cases were associated with Down's syndrome.
Pancytopaenia is a rare clinical presentation of severe leptospirosis. We would like to report a case of severe leptospirosis that progressed to pancytopaenia despite initial penicillin therapy. The patient needed a second course of antibiotic with doxycycline to improve his persistent symptoms and cytopaenia. Persistent pancytopaenia in severe leptospirosis and its management were reviewed.
We report a case of systemic diffuse large B-cell lymphoma presenting with extensive infiltration of the skin. A 56-year-old woman presented with a two-month history of pruritic erythematous plaques and nodules over the neck, trunk and upper limbs. She also had night sweats, weight loss, lethargy and reduced effort tolerance. Systemic examination revealed a pale, ill appearance with hepatosplenomegaly and lymphadenopathy. Blood investigations showed pancytopenia (haemoglobin 6.3 g/dL, total white cell count 3.0 × 10(9)/L, platelet count 138 × 10(9)/L) with a few suspicious mononuclear cells and a mildly elevated lactate dehydrogenase level (478 U/L). Skin biopsy demonstrated diffuse sheets and nodular infiltrates of CD20 and CD79a positive neoplastic cells in the dermis and subcutis. Computed tomography revealed multiple cervical, axillary, mediastinal, para-aortic and mesenteric lymph nodes. Bone marrow aspiration and trephine biopsy confirmed marrow involvement by non-Hodgkin's lymphoma. The patient was treated with chemotherapy, which resulted in resolution of the skin lesions.
Familial myelodysplastic syndrome occurring at a young age is a very rare childhood haematological malignancy. Two siblings, aged three and 18 years, from a consanguineous marriage, presented with pancytopenia and was subsequently diagnosed to have myelodysplastic syndrome. Both remained clinically stable throughout the illness. Splenectomy appeared to have fully corrected the cytopenia in one of them.
Systemic Epstein-Barr virus-positive T-cell lymphoproliferative childhood disease is an extremely rare disorder and classically arises following primary acute or chronic active Epstein-Barr virus infection. It is characterized by clonal proliferation of Epstein-Barr virus-infected T-cells with an activated cytotoxic phenotype. This disease has a rapid clinical course and is more frequent in Asia and South America, with relatively few cases being reported in Western countries. The clinical and pathological features of the disease overlap with other conditions including infectious mononucleosis, chronic active Epstein-Barr virus infection, hemophagocytic lymphohistiocytosis and natural killer cell malignancies. We describe the rare case of systemic Epstein-Barr virus-positive T-cell lymphoproliferative childhood disease in a 16-year-old Malay boy.
An 18-year-old male adolescent presented with prolonged high spiking temperature, photosensitive rash, oral ulcers and reduced hearing bilaterally of recent onset. Examination revealed malar rash, vasculitis rash over bilateral palms and soles, oral and buccal ulcers, palpable posterior auricular and inguinal lymph nodes, and reduced hearing bilaterally. His further investigations noted pancytopaenia, elevated transaminases, hyperferritinaemia, low C3 and C4 levels, positive antinuclear antibody, double-stranded DNA and direct Coombs test, while bone marrow aspiration revealed active phagocytic activity suggestive of hemophagocytic syndrome. We made a diagnosis of systemic lupus erythematosus with macrophage activation syndrome. We treated him with pulse intravenous methylprednisolone and his condition improved drastically. Temperature resolved on the next day after intravenous methylprednisolone; bilateral sensorineural hearing loss improved to near-normal hearing after treatment. He remained well during follow-up with a tapering dose of prednisolone.