Neurofibromatosis type 1 (NF1) is a multisystem genetic disorder associated with reduced lifespan attributed largely to malignancy and vascular causes. One of the tumours associated with NF1 is phaeochromocytoma. The phaeochromocytoma has earned the moniker, a ‘great mimicker’, due to its varied means of presentation. We present a patient with NF1 who was diagnosed with a giant 20 cm phaeochromocytoma after suffering from an ischaemic stroke. Current guidelines do not advocate surveillance of phaeochromocytoma in asymptomatic patients with NF1, unlike other genetic syndromes associated with phaeochromocytoma. However, there is increasing evidence that this approach may not help in the early detection and treatment of this potentially life-threatening disease. Our patient remained hypertensive after surgery despite achieving biochemical cure. The suggested chronicity of the underlying tumour in our patient is a reminder to practising clinicians to rethink our strategy in identifying phaeochromocytoma in adults with NF1.
- adrenal disorders
- genetic screening / counselling
- endocrine cancer
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Contributors YL conceived the idea for the manuscript, analysed the data and wrote the majority of the manuscript. LYRT assisted in literature research and writing of the case. YHH provided critical review of the manuscript as well as assisting in the elucidation of the pathological diagnosis of the case. MKSL provided invaluable guidance in intellectual input, critical review and editing of the manuscript for scientific content validity and accuracy.
Competing interests None declared.
Patient consent Obtained.
Provenance and peer review Not commissioned; externally peer reviewed.
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