Screening for Hereditary Pheochromocytoma in a Patient with Neurofibromatosis Type 1: A Case Report
| Autor: | Inês Ferreira Barros, Ana Isabel Caldas e Silva, Maria Lopes Pereira, Fernando Manso |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
Pediatrics
medicine.medical_specialty congenital hereditary and neonatal diseases and abnormalities High prevalence Endocrine and Autonomic Systems business.industry Endocrinology Diabetes and Metabolism Incidence (epidemiology) 030209 endocrinology & metabolism Disease medicine.disease Left sided Paravertebral ganglia Pheochromocytoma 03 medical and health sciences 0302 clinical medicine Endocrinology medicine.anatomical_structure 030220 oncology & carcinogenesis medicine In patient Neurofibromatosis Endocrine Oncology business |
| Zdroj: | touchREV Endocrinol |
| Popis: | Pheochromocytoma (PHEO) is a rare tumour that arises from adreno-medullary chromaffin cells and secretes catecholamines. These hormones are also secreted by paragangliomas, which derive from extra-adrenal cells of the sympathetic paravertebral ganglia. At least one-third of PHEOs are familial. Neurofibromatosis type 1 (NF1), or von Recklinghausen's disease, is diagnosed upon clinical criteria, and the study of PHEO is advised if hypertension is present. The incidence of PHEO in NF1 is 0.1–5.7% and explains hypertension in 20–50% of these patients. Recent advances in the treatment of this condition and preoperative preparation allow us to reduce its high cardiovascular morbimortality. Here we present the case of a 31-year-old female with known NF1 who presented with 5 months' history of non-specific symptoms and an episode of intraoperative hypertensive crisis. The workup detected a left sided PHEO, which was treated surgically. Our case illustrates the high prevalence of hereditary PHEO and how its presentation can go unnoticed. It reinforces the significance of screening for PHEO in patients with NF1. |
| Databáze: | OpenAIRE |
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