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Bilateral papillopathy as a presenting sign of pheochromocytoma associated with von Hippel–Lindau disease

التفاصيل البيبلوغرافية
العنوان: Bilateral papillopathy as a presenting sign of pheochromocytoma associated with von Hippel–Lindau disease
المؤلفون: Shah V, Zlotcavitch L, Herro AM, Dubovy SR, Yehoshua Z, Lam BL
المصدر: Clinical Ophthalmology, Vol 2014, Iss default, Pp 623-628 (2014)
بيانات النشر: Dove Medical Press, 2014.
سنة النشر: 2014
المجموعة: LCC:Ophthalmology
مصطلحات موضوعية: Ophthalmology, RE1-994
الوصف: Veeral Shah, Leonid Zlotcavitch, Angela M Herro, Sander R Dubovy, Zohar Yehoshua, Byron L LamBascom Palmer Eye Institute, University of Miami, Miller School of Medicine, Miami, FL, USAAbstract: A 7-year-old girl presented with decreased vision in both eyes for 1 month. Examination showed visual acuity of 20/50 and 20/60, no afferent pupillary defect, cecocentral scotomas, and bilateral optic disc edema with extensive peripapillary and macular exudates. Magnetic resonance imaging showed multiple cortical and subcortical white matter lesions. Both the laboratory workup and the systemic examination were unrevealing. However, on follow-up, the patient showed episodic elevations of blood pressure as high as 240/160. Further workup revealed elevated urine catecholamines and a right supra-adrenal mass proven to be a pheochromocytoma by histopathologic analysis. The paroxysmal hypertension resolved, and the visual acuity, visual fields, fundus exam, and neuroimaging improved. The patient was lost to follow-up until age 18 when she developed shortness of breath and was found to have multiple pulmonary metastases identified as pheochromocytoma by biopsy. Genetic testing identified a 3p25-26 (c.482 G>A) VHL gene chromosomal mutation consistent with von Hippel–Lindau disease genotype. Multiple peripheral retinal vascular dilations and small retinal capillary hemangioblastomas were also found. This case highlights the importance of recognizing the lability of blood pressure often seen with pheochromocytomas, which may mask the underlying cause of hypertensive papillopathy and retinopathy, a diagnosis of low clinical suspicion in the pediatric population. The case also underscores the importance of thorough systemic workup, including genotyping to detect conditions where pheochromocytoma may be the presenting sign of the disease, such as multiple endocrine neoplasia 2A and 2B, von Hippel–Lindau disease, von Recklinghausen disease, tuberous sclerosis, and Sturge–Weber syndrome.Keywords: hypertensive encephalopathy, VHL, pheochromocytoma, paroxysmal hypertension
نوع الوثيقة: article
وصف الملف: electronic resource
اللغة: English
تدمد: 1177-5483
31533817
Relation: http://www.dovepress.com/bilateral-papillopathy-as-a-presenting-sign-of-pheochromocytoma-associ-a16239; https://doaj.org/toc/1177-5483
URL الوصول: https://doaj.org/article/8347f510da6f47d393e08b8a31533817
رقم الأكسشن: edsdoj.8347f510da6f47d393e08b8a31533817
قاعدة البيانات: Directory of Open Access Journals
الوصف
تدمد:11775483
31533817