Neurofibromatosis-related phaeochromocytoma: two cases with large tumours and elevated plasma methoxytyramine

Endocrinology, Diabetes & Metabolism Case Reports

article

Stephanie Teasdale¹  Elham Reda² 

[1]Endocrinology, Mater Hospital

[2]Endocrinology, Gold Coast University Hospital

关键词: Adult;    Female;    Male;    White;    Australia;    Adrenal;    Tumours and neoplasia;    Phaeochromocytoma;    Neurofibromatosis;    Takotsubo cardiomyopathy;    Ischaemic heart disease;    Cardiomyopathy;    Headache;    Palpitations;    Dizziness;    Sweating;    Weight loss;    Chest pain;    Tachycardia;    Neurofibromas;    Abdominal lump;    Hypertension;    Electrocardiogram;    Ultrasound scan;    CT scan;    Troponin;    Liver function;    Catecholamines (plasma);    Metanephrines (plasma);    Methoxytyramine;    MIBG scan;    Dopamine;    MRI;    Echocardiogram;    Histopathology;    Diltiazem;    Digoxin;    Prazosin;    Alpha-blockers;    Beta-blockers;    Labetalol;    Phenoxybenzamine;    Metoprolol;    Cardiology;    Surgery;    Unique/unexpected symptoms or presentations of a disease;    August;    2015;   

DOI  :  10.1530/EDM-15-0059

学科分类：血液学

来源: Bioscientifica Ltd.

【 摘 要 】

We present two cases of adrenal phaeochromocytoma in patients with a previous diagnosis of neurofibromatosis type 1(NF1). One had an adrenergic phenotype. The other had a more noradrenergic phenotype. Both had large primarytumours, which increases the likelihood of malignancy. Both also had elevated plasma-free methoxytyramine, whichhas been linked with malignancy even in non-SDHB phaeochromocytomas.

【 授权许可】

CC BY-NC-ND