A 9-year-old girl was admitted to the paediatric intensive care unit with acute respiratory failure due to influenza. Nine months earlier, she presented with unexplained lymphoedema of the lower extremities and monocytopenia. She had a history of occasional finger warts and onychomycoses. During hospitalisation, the patient was diagnosed with Emberger syndrome caused by GATA2 deficiency. The admission was complicated by thromboses in the right hand, leading to amputation of multiple fingers. From then on, the patient has been in good recovery, the function of her right hand was improving and an allogeneic haematopoietic cell transplantation has now been successfully performed.
- paediatric intensive care
- paediatric surgery
- paediatric oncology
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MLNJ and VDM are joint first authors.
MLNJ and VDM contributed equally.
Contributors MLNJ and VDM drafted the first manuscript with contributions from JSAN. The case was discussed between all authors. All authors contributed with intellectual content to the final manuscript. MI and JSAN took part in diagnosing and treating the patient. All authors agree with the discussion and conclusions of this case story.
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 for publication Parental/guardian consent obtained.
Provenance and peer review Not commissioned; externally peer-reviewed.
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