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


CONCLUSIONS
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.
Merheb
Marie
M
Department of Internal Medicine, Division of Endocrinology and Metabolism, American University of Beirut Medical Center, Beirut, Lebanon.
Hourani
Roula
R
Zantout
Mira S
MS
Azar
Sami T
ST
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics; D000293:Adolescent; D004700:Endocrine System Diseases / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics; D005260:Female; D013006:Growth Hormone / Q000235:genetics / Q000627:therapeutic use; D006391:Hemangioma / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics; D006801:Humans; D007621:Karyotyping; D020752:Neurocutaneous Syndromes / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics; D019339:Port-Wine Stain / Q000473:pathology*; D013963:Thyroid Hormones / Q000235:genetics / Q000627:therapeutic use
D013963:Thyroid Hormones; D013006:Growth Hormone