Abstract
BackgroundPHACE is a neurocutaneous syndrome associated with: Posterior fossa brain malformations, large “segmental” facial hemangiomas, arterial cerebrovascular-, cardiovascular-, and eye anomalies.Case vignetteWe 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.ConclusionsThis case suggests the necessity to screen all patients with PHACE syndrome and intracranial malformations for pituitary dysfunction at regular intervals.
Highlights
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
This case suggests the necessity to screen all patients with PHACE syndrome and intracranial malformations for pituitary dysfunction at regular intervals
Hypogonadotropic hypogonadism, secondary adrenal insufficiency, central hypothyroidism and absolute growth hormone deficiency diagnosed at the age of 11 years led to a comprehensive diagnostic work-up revealing the diagnosis of PHACE syndrome
Summary
Hypogonadotropic hypogonadism, secondary adrenal insufficiency, central hypothyroidism and absolute growth hormone deficiency diagnosed at the age of 11 years led to a comprehensive diagnostic work-up revealing the diagnosis of PHACE syndrome. While acquired hypopituitarism has not yet been reported in association with PHACE syndrome, there are several factors that make congenital hypopituitarism unlikely in our patient: The patient had normal growth velocity from 4.5 to 10 years of life. As reported in the literature, intracranial cysts can cause a wide spectrum of endocrine insufficiencies [9]. Another potential mechanism causing a more acute onset of pituitary dysfunctions might have been a thromboembolic event with infarction of the adenohypophysis. Author details 1Department of Pediatrics and Adolescent Medicine, Division of Pediatric Endocrinology and Diabetes, University Hospital of Ulm, Eythstr.
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