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Published on: December 17, 2010
A case of phace syndrome and acquired hypopituitarism?
Friederike Denzer1, Christian Denzer, Belinda S Lennerz
1Department of Pediatrics and Adolescent Medicine, Division of Pediatric Endocrinology and Diabetes, University Hospital of Ulm, Eythstr, 24, Ulm, D-89075, Germany. martin.wabitsch@uniklinik-ulm.de.
Background:
PHACE is a neurocutaneous syndrome associated with: Posterior fossa brain malformations, large "segmental" facial hemangiomas, arterial cerebrovascular-, cardiovascular-, and eye anomalies.
Case Vignette:
We are reporting a girl with PHACE syndrome. The patient had a congenital right-sided facial hemangioma with plaque-morphology. At age 11 years and 2 months she presented with short stature, markedly decreased growth velocity and signs and symptoms suggestive of hypothyroidism. Magnetic Resonance Imaging (MRI) of the brain revealed complex structural and cerebrovascular arterial anomalies, including an empty sella. Testing of pituitary function revealed multiple pituitary dysfunctions, including absolute growth hormone deficiency, hypogonadotropic hypogonadism, central hypothyroidism, and secondary adrenal insufficiency.
Conclusions:
This case suggests the necessity to screen all patients with PHACE syndrome and intracranial malformations for pituitary dysfunction at regular intervals.
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