A rare case report of coexistent neurofibromatosis type 1 with sickle cell beta-plus thalassaemia

Abstract

A 28-year-old male presented with fever with chills, jaundice, body pains and dyspnoea for 3 days. There was a history of recurrent jaundice in the past. Physical examination revealed massive hepatosplenomegaly, and hence, thought of haemolytic anaemia and haemoglobin electrophoresis was done which is suggestive of sickle cell-beta-thalassaemia. He also has café-au-lait spots, inguinal freckling, neurofibromas and lisch nodules all suggestive of neurofibromatosis type 1 (NF1). He was evaluated for fever and found to have an abnormality on computed tomography chest suggestive of pulmonary tuberculosis (TB). The patient was treated with anti-TB therapy. We report the case because of the rare occurrence of NF1 with sickle cell-beta-thalassaemia, after screening the literature available till now. This case also highlights the fact that haemolytic anaemia patients may have pre-existing jaundice, and hence, antitubercular therapy should be given with caution to prevent hepatotoxicity.

Keywords

• neurofibromatosis type 1
• neurofibromatosis with sickle cell anaemia
• sickle cell-beta-thalassaemia