An Unusual Case of Hepatosplenomegaly with Cytopenia
نویسندگان
چکیده
Autoimmune lymphoproliferative syndrome (ALPS) is a rare, inherited disorder of immune dysregulation secondary to defective lymphocyte apoptosis. This leads to uninhibited proliferation of lymphoid tissue manifesting with lymphadenopathy, hepatosplenomegaly, autoimmune cytopenia, and an increased risk of lymphoid malignancy. We report a twoyearold boy with fever, generalized lymphadenopathy, hepatosplenomegaly, bicytopenia and seizure. He was investigated extensively to rule out infectious, malignant and autoimmune causes and was subsequently found to have elevated "double negative" T lymphocytes with other evidence of autoimmunity and hyperglobulinemia. In the absence of molecular diagnostic testing a diagnosis of probable ALPS was made and corticosteroid was started. Though there was initial good response, steroid could not be tapered, so, he was started on mycophenolate and responded to it. It is believed that with common and wide range of manifestations, ALPS is likely to be under-diagnosed and a greater awareness of the entity among pediatricians is required.
منابع مشابه
An Unusual Case of Hepatosplenomegaly with Cytopenia
Autoimmune lymphoproliferative syndrome (ALPS) is a rare, inherited disorder of immune dysregulation secondary to defective lymphocyte apoptosis. This leads to uninhibited proliferation of lymphoid tissue manifesting with lymphadenopathy, hepatosplenomegaly, autoimmune cytopenia, and an increased risk of lymphoid malignancy. We report a 2 year old boy with fever, generalized lymphadenopathy, he...
متن کاملHematologic manifestations in a child with HIV a Case Report
Abstract Background Immune deficiency in human might be primary or secondary and could be seen with a wide variety of manifestations. In the following, we presented a Child with various complains that diagnosed to have HIV infection. Case Report A 2/5 y/o child was admitted to the hospital for FUO with prolonged cough, FTT, cervical lymphadenopathy, hepatosplenomegaly and bilateral opti...
متن کاملAn unusual cause of ascites: hemophagocytic lymphohistiocytosis.
Hemophagocytic lymphohistiocytosis is character-ized by fever, hepatosplenomegaly, cytopenia, hyper-triglyceridemia, hypofibrinogenemia, and hemophago-cytosis. Ascites is not mentioned as a symptom of hemophagocytic syndrome. We report a one month-old girl suffering from familial erythrophagocytic lympho-histiocytosis, who presented with ascites.
متن کاملHematologic manifestations in a child with HIV; a Case Report
BACKGROUND Immune deficiency in human might be primary or secondary and could be seen with a wide variety of manifestations. In the following, we presented a Child with various complains that diagnosed to have HIV infection. CASE REPORT A 2/5 y/o child was admitted to the hospital for FUO with prolonged cough, FTT, cervical lymphadenopathy, hepatosplenomegaly and bilateral optic neuritis. . H...
متن کامل