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Unusual association of diseases/symptoms
CASE REPORT
MonoMac syndrome with associated neurological deficits and longitudinally extensive cord lesion
  1. Mastura Monif1,2,
  2. Aamira Huq3,
  3. Lynette Chee4,
  4. Trevor Kilpatrick1,5
  1. 1Department of Neurology, The Royal Melbourne Hospital, Melbourne, Victoria, Australia
  2. 2Department of Physiology, University of Melbourne Faculty of Medicine, Melbourne, Victoria, Australia
  3. 3Department of Clinical Genetics, Royal Melbourne Hospital, Melbourne, Victoria, Australia
  4. 4Department of Haematology, Royal Melbourne Hospital, Melbourne, Victoria, Australia
  5. 5Melbourne Neuroscience Institute, University of Melbourne, Melbourne, Victoria, Australia
  1. Correspondence to Dr Mastura Monif, mmonif{at}unimelb.edu.au

Summary

We present a case of monocytopaenia and mycobacteria-related infection (MonoMac) syndrome in a 30-year-old man of Indian origin. The clinical diagnosis of GATA2 haploinsufficiency was suspected after an unusual neurological presentation on a background of myelodysplastic syndrome and childhood pulmonary tuberculosis. The patient had a longitudinally extensive spinal cord lesion and a lesion in the medulla. No obvious infective cause for the spinal cord MRI abnormality was found, and the lesions were presumed to be inflammatory in nature. The family history consisted of autosomal dominant clinical features suggestive of GATA2 haploinsufficiency. Genetic testing in peripheral leucocytes revealed a pathogenic mutation in GATA2. This is the first-ever published case of possible MonoMac syndrome with a neurological presentation. The case highlights the rarity and complexity of the diagnosis and the clinical sequelae that ensued with the patient dying of gram-negative septicaemia while receiving intravenous steroid therapy for the spinal cord lesion.

  • neurology (drugs and medicines)
  • malignant disease and immunosuppression
  • infections
  • haematology (drugs and medicines)
  • genetics

https://doi.org/10.1136/bcr-2017-222872

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    Footnotes

    • Contributors MM, TK and LC were the clinicians involved in patient’s care. MM and TK were involved in conducting the neurological assessment and investigations as well as postulating on the diagnosis of MonoMac syndrome. LC was the patient’s haematologist and was responsible for conducting the haematological investigations and their interpretation. AH was responsible in seeing the patient in genetics clinic and assessing the patient for consideration of GATA2 mutation. The report was written by MM with edits performed by the other authors.

    • 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.

    • Competing interests None declared.

    • Patient consent Next of kin consent obtained.

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