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Diagnosis and Treatment > Signs and Symptoms

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Valeria de Miguel Departments of Endocrinology, Metabolism and Nuclear Medicine

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Andrea Paissan Departments of Endocrinology, Metabolism and Nuclear Medicine

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Patricio García Marchiñena Departments of Urology, Metabolism and Nuclear Medicine

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Alberto Jurado Departments of Urology, Metabolism and Nuclear Medicine

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Mariana Isola Pathology, Buenos Aires, Argentina

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José Alfie Hypertension Unit of Hospital Italiano de Buenos Aires, Buenos Aires, Argentina

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Patricia Fainstein-Day Departments of Endocrinology, Metabolism and Nuclear Medicine

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Summary

We present the case of a 25-year-old male with a history of neurofibromatosis type 1 and bilateral pheochromocytoma 4 years after kidney transplantation that was successfully treated with simultaneous bilateral posterior retroperitoneoscopic adrenalectomy.

Learning points:

  • Hypertensive patients with NF1 should always be screened for pheochromocytoma.

  • Pheochromocytoma is rarely associated with transplantation, but it must be ruled out in patients with genetic susceptibility.

  • Posterior retroperitoneoscopic adrenalectomy (PRA) allows more direct access to the adrenal glands, especially in patients with previous abdominal surgeries.

Taxonomy:
Clinical Overview, Gland/Organ, Adrenal, Topic, Adrenal, Hormone, Metanephrines, Condition/ Syndrome, Neurofibromatosis, Phaeochromocytoma, Patient Demographics, Age, Adolescent/young adult, Gender, Male, Ethnicity, Hispanic or Latino - Central American or South American, Country of Treatment, Argentina, Diagnosis and Treatment, Signs and Symptoms, Genu varum, Headache, Hypertension, Kidney dysplasia, Neurofibromas, Palpitations, Renal failure, Skin pigmentation - spotty, Sweating, Tachycardia, Investigation, Blood pressure, Creatinine, CT scan, Kidney function, Metanephrines (urinary), Normetanephrine, Intervention, Adrenalectomy, Kidney transplantation, Resection of tumour, Medication, Alpha-blockers, Amlodipine, Beta-blockers, Doxazosin, Fludrocortisone, Labetalol, Methylprednisolone, Mineralocorticoids, Prednisone, Related Disciplines, Nephrology, Publication Details, Case Report Type, Insight into disease pathogenesis or mechanism of therapy
DOI:
https://doi.org/10.1530/EDM-18-0162
Volume/Issue:
Volume 2019: Issue 1
Open access
Stephanie Teasdale
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Elham Reda Endocrinology, Gold Coast University Hospital, Southport, Queensland, Australia

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Summary

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 primary tumours, which increases the likelihood of malignancy. Both also had elevated plasma-free methoxytyramine, which has been linked with malignancy even in non-SDHB phaeochromocytomas.

Learning points

  • Phaeochromocytoma can have varied clinical presentations.

  • Methoxytyramine can be useful in the biochemical work-up of both SDHB-positive and SDHB-negative phaeochromocytoma.

  • The utility of methoxytyramine as a marker of malignancy in NF1-related phaeochromocytoma is unclear, and cases with elevated titres warrant longer follow-up.

Taxonomy:
Clinical Overview, Gland/Organ, Adrenal, Topic, Tumours and neoplasia, Condition/ Syndrome, Ischaemic heart disease, Neurofibromatosis, Phaeochromocytoma, Takotsubo cardiomyopathy, Patient Demographics, Age, Adult, Gender, Female, Male, Ethnicity, White, Country of Treatment, Australia, Diagnosis and Treatment, Signs and Symptoms, Abdominal lump, Cardiomyopathy, Chest pain, Dizziness, Headache, Hypertension, Neurofibromas, Palpitations, Sweating, Tachycardia, Weight loss, Investigation, Catecholamines (plasma), CT scan, Dopamine, Echocardiogram, Electrocardiogram, Histopathology, Liver function, Metanephrines (plasma), Methoxytyramine, MIBG scan, MRI, Troponin, Ultrasound scan, Medication, Alpha-blockers, Beta-blockers, Digoxin, Diltiazem, Labetalol, Metoprolol, Phenoxybenzamine, Prazosin, Related Disciplines, Cardiology, Surgery, Publication Details, Case Report Type, Unique/unexpected symptoms or presentations of a disease
DOI:
https://doi.org/10.1530/EDM-15-0059
Volume/Issue:
Volume 2015: Issue 1
Open access