An Unusual Case of Hepatosplenomegaly with Cytopenia

Authors

  • Amitabh Singh Senior Research Associate, Department of Pediatrics, AIIMS, New Delhi-110029, India.
  • Anirban Mandal Senior Resident, Department of Pediatrics, AIIMS, New Delhi-110029, India.
  • Rachna Seth Additional Professor, Department of Pediatrics, AIIMS, New Delhi-110029, India.
Abstract:

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, 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.

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Journal title

volume 3  issue 4.2

pages  803- 807

publication date 2015-08-01

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