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BMJ Case Reports 2017; doi:10.1136/bcr-2017-220188
  • Unusual association of diseases/symptoms
  • CASE REPORT

Pure red cell aplasia and myasthenia gravis: a patient having both autoimmune conditions in the absence of thymoma

  1. Josanne Aquilina3
  1. 1Foundation Programme, Mater Dei Hospital, Msida, Malta
  2. 2Department of Haematology, Mater Dei Hospital, Msida, Malta
  3. 3Department of Neurology, Mater Dei Hospital, Msida, Malta
  1. Correspondence to Dr Annelise Aquilina, annie.aquilina{at}gmail.com
  • Accepted 10 August 2017
  • Published 11 September 2017

Summary

This is a patient who was presented initially with symptoms of malaise, tiredness and exertional dyspnoea and found to have a severe normocytic normochromic anaemia with low reticulocyte counts. Bone marrow confirmed the diagnosis of pure red cell aplasia (PRCA) and at the time serology for recent parvovirus infection was positive. He was successfully treated with transfusions and intravenous Ig. Six years later, he had a mild relapse of his PRCA and subsequently developed severe dysphagia and dysarthria which were fatigable. Positive antiacetylcholine receptor antibodies confirmed the diagnosis of myasthenia gravis. The two conditions are both known to be associated with thymoma. Imaging and resection of the thymus gland showed only the presence of a thymic cyst. Treatment with pyrdistogmine and intravenous Ig have kept the patient asymptomatic and in remission. The rare association of the two autoimmune conditions associated in the same patient without thymoma is discussed.

Footnotes

  • Contributors AA encountered this interesting case and written it up for submission to BMJ Case Reports. The patient was under the care of DJC, Consultant Haematologist, for his pure red cell aplasia, and also under the care of JA, Consultant Neurologist, for his myasthenia gravis. Under their guidance, the data of the patient were compiled through information gained from the hospital interface as well as from the patient’s medical notes. Both senior authors contributed equally to the case report and the discussion.

  • Competing interests None declared.

  • Patient consent Obtained.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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