Document Detail


Endocrine dysfunction in a patient with PHACE syndrome, including port-wine stain of the right periorbital area.
MedLine Citation:
PMID:  20061274     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
Marie Merheb; Roula Hourani; Mira S Zantout; Sami T Azar
Related Documents :
15666314 - Lateral meningocele syndrome: vertical transmission and expansion of the phenotype.
19737994 - Contemporary issues in the prevention and management of postthrombotic syndrome.
16283674 - Epidemiology of hemimegalencephaly: a case series and review.
20135584 - [improvement of sensoneurinal hearing loss in a patient with muckle-wells syndrome trea...
8521624 - A congenital syndrome of mental deficiency, gait disturbance, sensorineural deafness an...
10954964 - Ischaemic myelopathy presenting as guillain-barré syndrome.
Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists     Volume:  16     ISSN:  1934-2403     ISO Abbreviation:  Endocr Pract     Publication Date:    2010 Mar-Apr
Date Detail:
Created Date:  2010-03-30     Completed Date:  2010-06-24     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9607439     Medline TA:  Endocr Pract     Country:  United States    
Other Details:
Languages:  eng     Pagination:  255-9     Citation Subset:  IM    
Affiliation:
Department of Internal Medicine, Division of Endocrinology and Metabolism, American University of Beirut Medical Center, Beirut, Lebanon.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / diagnosis*,  drug therapy,  genetics
Adolescent
Endocrine System Diseases / diagnosis*,  drug therapy,  genetics
Female
Growth Hormone / genetics,  therapeutic use
Hemangioma / diagnosis*,  drug therapy,  genetics
Humans
Karyotyping
Neurocutaneous Syndromes / diagnosis*,  drug therapy,  genetics
Port-Wine Stain / pathology*
Thyroid Hormones / genetics,  therapeutic use
Chemical
Reg. No./Substance:
0/Thyroid Hormones; 9002-72-6/Growth Hormone

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


Previous Document:  Endoscopic Ultrasound Guided Fine Needle Aspiration with Aspirate Assay to Diagnose Suspected Medias...
Next Document:  Vitamin B12 Deficiency is Common in Subjects with Type 2 Diabetes Mellitus Not Taking Metformin and ...