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

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

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 acu...

Descripción completa

Guardado en:
Detalles Bibliográficos
Autores principales: Shah V, Zlotcavitch L, Herro AM, Dubovy SR, Yehoshua Z, Lam BL
Formato: article
Lenguaje:EN
Publicado: Dove Medical Press 2014
Materias:
Ophthalmology
RE1-994
Acceso en línea:https://doaj.org/article/8347f510da6f47d393e08b8a31533817
Etiquetas: Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!
id oai:doaj.org-article:8347f510da6f47d393e08b8a31533817
record_format dspace
spelling oai:doaj.org-article:8347f510da6f47d393e08b8a315338172021-12-02T00:30:00ZBilateral papillopathy as a presenting sign of pheochromocytoma associated with von Hippel–Lindau disease1177-5483https://doaj.org/article/8347f510da6f47d393e08b8a315338172014-03-01T00:00:00Zhttp://www.dovepress.com/bilateral-papillopathy-as-a-presenting-sign-of-pheochromocytoma-associ-a16239https://doaj.org/toc/1177-5483 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 hypertensionShah VZlotcavitch LHerro AMDubovy SRYehoshua ZLam BLDove Medical PressarticleOphthalmologyRE1-994ENClinical Ophthalmology, Vol 2014, Iss default, Pp 623-628 (2014)
institution DOAJ
collection DOAJ
language EN
topic Ophthalmology
RE1-994
spellingShingle Ophthalmology
RE1-994
Shah V
Zlotcavitch L
Herro AM
Dubovy SR
Yehoshua Z
Lam BL
Bilateral papillopathy as a presenting sign of pheochromocytoma associated with von Hippel–Lindau disease
description 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
format article
author Shah V
Zlotcavitch L
Herro AM
Dubovy SR
Yehoshua Z
Lam BL
author_facet Shah V
Zlotcavitch L
Herro AM
Dubovy SR
Yehoshua Z
Lam BL
author_sort Shah V
title Bilateral papillopathy as a presenting sign of pheochromocytoma associated with von Hippel–Lindau disease
title_short Bilateral papillopathy as a presenting sign of pheochromocytoma associated with von Hippel–Lindau disease
title_full Bilateral papillopathy as a presenting sign of pheochromocytoma associated with von Hippel–Lindau disease
title_fullStr Bilateral papillopathy as a presenting sign of pheochromocytoma associated with von Hippel–Lindau disease
title_full_unstemmed Bilateral papillopathy as a presenting sign of pheochromocytoma associated with von Hippel–Lindau disease
title_sort bilateral papillopathy as a presenting sign of pheochromocytoma associated with von hippel–lindau disease
publisher Dove Medical Press
publishDate 2014
url https://doaj.org/article/8347f510da6f47d393e08b8a31533817
work_keys_str_mv AT shahv bilateralpapillopathyasapresentingsignofpheochromocytomaassociatedwithvonhippelndashlindaudisease
AT zlotcavitchl bilateralpapillopathyasapresentingsignofpheochromocytomaassociatedwithvonhippelndashlindaudisease
AT herroam bilateralpapillopathyasapresentingsignofpheochromocytomaassociatedwithvonhippelndashlindaudisease
AT dubovysr bilateralpapillopathyasapresentingsignofpheochromocytomaassociatedwithvonhippelndashlindaudisease
AT yehoshuaz bilateralpapillopathyasapresentingsignofpheochromocytomaassociatedwithvonhippelndashlindaudisease
AT lambl bilateralpapillopathyasapresentingsignofpheochromocytomaassociatedwithvonhippelndashlindaudisease
_version_ 1718403685506088960

Ejemplares similares