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Case Reports: Findings that shed new light on the possible pathogenesis of a disease
Clonal cytopenia of undetermined significance and atypical Behçet’s: the importance of zinc
  1. Patricia Leonard1,
  2. Alison Louw2,
  3. David Prentice3 and
  4. Melita Cirillo4,5
  1. 1School of Medicine, Curtin University, Bentley, Western Australia, Australia
  2. 2Molecular Haematology, PathWest Laboratory Medical WA, Murdoch, Western Australia, Australia
  3. 3Neurology, Perron Institute for Neurological and Translational Science, Nedlands, Western Australia, Australia
  4. 4Haematology, Royal Perth Hospital, Perth, Western Australia, Australia
  5. 5School of Pathology and Laboratory Medicine, The University of Western Australia, Perth, Western Australia, Australia
  1. Correspondence to Dr Melita Cirillo; melita.cirillo{at}health.wa.gov.au

Abstract

Atypical Behçet’s is recognised in myelodysplastic syndrome (MDS) cases and is associated with trisomy 8. Clonal cytopenia of undetermined significance (CCUS) is recognised as a precursor to MDS. Our case describes the presentation of atypical Behçet’s, in association with CCUS, post a Streptococcal infection. A mutation of a zinc finger RNA spliceosome, ZRSR2, is also described. Our patient initially presented with macrocytic anaemia, together with neutropenia and lymphocytopenia on routine monitoring. Later gastrointestinal symptoms together with oral and anal ulcerations developed. He was treated with oral zinc therapy and had resolution of recurrent oral ulcerations and significant reduction in severity of anal ulcerations. The functional impact of ZRSR2 mutation on spliceosome assembly is yet to be defined, but has been previously reported in CCUS with a clinical phenotype of macrocytic anaemia.

  • Inflammatory bowel disease
  • Haematology (incl blood transfusion)
  • Immunology
  • Malignant and Benign haematology
  • Vitamins and supplements

https://doi.org/10.1136/bcr-2021-247154

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    Footnotes

    • Contributors DP, MC and PL wrote and researched the contents. AL contributed to sequencing.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

    • Competing interests None declared.

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