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Endocrine dysfunction in a patient with phace syndrome, including port-wine stain of the right periorbital area

Show simple item record Merheb M. Hourani R. Zantout M.S. Azar S.T.
dc.contributor.editor 2010 2017-10-05T15:39:31Z 2017-10-05T15:39:31Z 2010
dc.identifier 10.4158/EP09179.CR
dc.description.abstract Objective: To report a case of PHACE syndrome - Posterior fossa brain abnormalities, Hemangioma (usually facial), Arterial anomalies, Coarctation of the aorta along with cardiac defects, and Eye abnormalities - in a 16-year-old female patient with a port-wine stain of the right periorbital area present since birth in conjunction with hypoplasia of the contralateral internal carotid artery. Methods: Thyroid-stimulating hormone, free thyroxine, and growth hormone (GH) levels were measured, and insulin-induced hypoglycemia and arginine infusion tests were done. Radiologic investigations included sagittal enhanced T1-weighted magnetic resonance imaging of the brain and the pituitary gland as well as computed tomography and magnetic resonance angiography of the head and neck. Results: The patient had a normal karyotype. Her height and weight were below the 5th percentile for her chronologic age, and she had amenorrhea. Laboratory investigations revealed both thyroid and GH deficiencies and confirmed the diagnosis of hypogonadotropic hypogonadism. The imaging studies showed a right intraorbital hemangioma as well as an enhancing mass in the right internal auditory canal at the cerebellopontine angle, consistent with a posterior fossa hemangioma. Initiation of both thyroid and GH replacement therapy improved her growth rate and yielded a good clinical outcome. Conclusion: In patients with facial or neck hemangiomas, PHACE syndrome should be suspected, and brain imaging and cardiac, ophthalmologic, and endocrinologic evaluations are recommended to screen for other potential PHACE abnormalities. © 2010 AACE.
dc.format.extent Pages: (255-259)
dc.language English
dc.publisher JACKSONVILLE
dc.relation.ispartof Publication Name: Endocrine Practice; Publication Year: 2010; Volume: 16; no. 2; Pages: (255-259);
dc.source Scopus
dc.title Endocrine dysfunction in a patient with phace syndrome, including port-wine stain of the right periorbital area
dc.type Article
dc.contributor.affiliation Merheb, M., Department of Internal Medicine, American University, Beirut Medical Center, Beirut, Lebanon
dc.contributor.affiliation Hourani, R., Department of Diagnostic Radiology, American University, Beirut Medical Center, Beirut, Lebanon
dc.contributor.affiliation Zantout, M.S., Department of Internal Medicine, American University, Beirut Medical Center, Beirut, Lebanon
dc.contributor.affiliation Azar, S.T., Department of Internal Medicine, American University, Beirut Medical Center, Beirut, Lebanon
dc.contributor.authorAddress Azar, S. T.; Department of Internal Medicine, American University, Beirut Medical Center, 3 Dag Hammarskjold Plaza, New York, NY 10017, United States; email:
dc.contributor.authorCorporate University: American University of Beirut Medical Center; Faculty: Faculty of Medicine; Department: Internal Medicine;
dc.contributor.authorDepartment Internal Medicine
dc.contributor.authorFaculty Faculty of Medicine
dc.contributor.authorInitials Merheb, M
dc.contributor.authorInitials Hourani, R
dc.contributor.authorInitials Zantout, MS
dc.contributor.authorInitials Azar, ST
dc.contributor.authorReprintAddress Azar, ST (reprint author), Amer Univ Beirut, Med Ctr, Div Endocrinol and Metab, Dept Internal Med, 3 Dag Hammarskjold Plaza,8th Floor, New York, NY 10017 USA.
dc.contributor.authorUniversity American University of Beirut Medical Center
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dc.description.citedTotWOSCount 1
dc.description.citedWOSCount 1
dc.format.extentCount 5
dc.identifier.coden EPNRA
dc.identifier.scopusID 77953955573
dc.publisher.address 245 RIVERSIDE AVENUE, STE 200, JACKSONVILLE, FL 32202 USA
dc.relation.ispartOfISOAbbr Endocr. Pract.
dc.relation.ispartOfIssue 2
dc.relation.ispartofPubTitle Endocrine Practice
dc.relation.ispartofPubTitleAbbr Endocr. Pract.
dc.relation.ispartOfVolume 16
dc.source.ID WOS:000277497400020
dc.type.publication Journal
dc.subject.otherChemCAS arginine, 1119-34-2, 15595-35-4, 7004-12-8, 74-79-3
dc.subject.otherChemCAS growth hormone, 36992-73-1, 37267-05-3, 66419-50-9, 9002-72-6
dc.subject.otherChemCAS insulin, 9004-10-8
dc.subject.otherChemCAS thyrotropin, 9002-71-5
dc.subject.otherChemCAS thyroxine, 7488-70-2
dc.subject.otherIndex arginine
dc.subject.otherIndex growth hormone
dc.subject.otherIndex insulin
dc.subject.otherIndex thyrotropin
dc.subject.otherIndex thyroxine
dc.subject.otherIndex adolescent
dc.subject.otherIndex amenorrhea
dc.subject.otherIndex aorta coarctation
dc.subject.otherIndex artery malformation
dc.subject.otherIndex article
dc.subject.otherIndex brain
dc.subject.otherIndex brain malformation
dc.subject.otherIndex carotid artery
dc.subject.otherIndex case report
dc.subject.otherIndex computer assisted tomography
dc.subject.otherIndex congenital heart malformation
dc.subject.otherIndex endocrine disease
dc.subject.otherIndex eye malformation
dc.subject.otherIndex female
dc.subject.otherIndex free thyroxine index
dc.subject.otherIndex growth hormone deficiency
dc.subject.otherIndex growth rate
dc.subject.otherIndex head
dc.subject.otherIndex height
dc.subject.otherIndex hemangioma
dc.subject.otherIndex hormone substitution
dc.subject.otherIndex human
dc.subject.otherIndex hypoglycemia
dc.subject.otherIndex hypogonadotropic hypogonadism
dc.subject.otherIndex hypophysis
dc.subject.otherIndex hypoplasia
dc.subject.otherIndex hypothyroidism
dc.subject.otherIndex internal auditory canal
dc.subject.otherIndex laboratory test
dc.subject.otherIndex magnetic resonance angiography
dc.subject.otherIndex neck
dc.subject.otherIndex nevus flammeus
dc.subject.otherIndex nuclear magnetic resonance imaging
dc.subject.otherIndex orbit
dc.subject.otherIndex outcome assessment
dc.subject.otherIndex pons angle
dc.subject.otherIndex posterior fossa
dc.subject.otherIndex posterior fossa brain disease
dc.subject.otherIndex weight
dc.subject.otherKeywordPlus INTERNAL CAROTID ARTERIES
dc.subject.otherKeywordPlus INFANTILE HEMANGIOMAS
dc.subject.otherKeywordPlus CAPILLARY HEMANGIOMA
dc.subject.otherKeywordPlus MALFORMATIONS
dc.subject.otherKeywordPlus ASSOCIATION
dc.subject.otherKeywordPlus HYPOTHYROIDISM
dc.subject.otherKeywordPlus AGENESIS
dc.subject.otherWOS Endocrinology and Metabolism

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