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International Journal of Pediatric Endocrinology
Published in: International Journal of Pediatric Endocrinology 1/2012

Open Access 01-12-2012 | Case report

A case of phace syndrome and acquired hypopituitarism?

Authors: Friederike Denzer, Christian Denzer, Belinda S Lennerz, Harald Bode, Martin Wabitsch

Published in: International Journal of Pediatric Endocrinology | Issue 1/2012

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Abstract

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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Literature
1.
Frieden IJ, Reese V, Cohen D: PHACE syndrome: the association of posterior fossa brain malformations, hemangiomas, arterial anomalies, coarctation of the aorta and cardiac defects, and eye abnormalities. Arch Dermatol. 1996, 132: 307-311. 10.1001/archderm.1996.03890270083012.CrossRefPubMed
2.
Metry DW, Haggstrom AN, Drolet BA, Baselga E, Chamlin S, Garzon M, Horii K, Lucky A, Mancini AJ, Newell B, Nopper A, Heyer G, Frieden IJ: A prospective study of PHACE syndrome in infantile hemangiomas: demographic features, clinical findings, and complications. Am J Med Genet. 2006, 140A: 975-986. 10.1002/ajmg.a.31189.CrossRef
3.
Metry DW, Dowd CF, Barkovich AJ, Frieden IJ: The many faces of PHACE syndrome. J Pediatr. 2001, 139: 117-123. 10.1067/mpd.2001.114880.CrossRefPubMed
4.
Bracken J, Robinson I, Snow A, Watson R, Irvine AD, Rea D, Phelan E: PHACE syndrome: MRI of intracerebral vascular anomalies and clinical findings in a series of 12 patients. Pediatr Radiol. 2011, 41 (9): 1129-1138. 10.1007/s00247-011-2142-z.CrossRefPubMed
5.
Hess CP, Fullerton HJ, Metry DW, Drolet BA, Siegel DH, Auguste KI, Gupta N, Haggstrom AN, Dowd CF, Frieden IJ, Barkovich AJ: Cervical and intracranial arterial anomalies in 70 patients with PHACE syndrome. Am J Neuroradiol. 2010, 31 (10): 1980-1986. 10.3174/ajnr.A2206.CrossRefPubMed
6.
Poindexter G, Metry DW, Barkovich AJ, Frieden IJ: PHACE syndrome with intracerebral hemangiomas, heterotopia, and endocrine dysfunction. Pediatr Neurol. 2007, 36 (6): 402-406. 10.1016/j.pediatrneurol.2007.01.017.CrossRefPubMed
7.
Merheb M, Hourani R, Zantout MS, Azar ST: Endocrine dysfunction in a patient with PHACE syndrome, including port-wine stain of the right periorbital area. Endocr Pract. 2010, 16: 255-259. 10.4158/EP09179.CR.CrossRefPubMed
8.
Prader A, Largo RH, Molinari L, Issler C: Physical growth of Swiss children from birth to 20 years of age. First Zurich longitudinal study of growth and development. Helv Paediatr Acta Suppl. 1989, 52: 1-125.PubMed
9.
Savas Erdeve S, Ocal G, Berberoglu M, Siklar Z, Hacihamdioglu B, Evliyaoglu O, Fitoz S: The endocrine spectrum of intracranial cysts in childhood and review of the literature. J Pediatr Endocrinol Metabol. 2011, 24 (11–12): 867-875.
Metadata
Title
A case of phace syndrome and acquired hypopituitarism?
Authors
Friederike Denzer
Christian Denzer
Belinda S Lennerz
Harald Bode
Martin Wabitsch
Publication date
01-12-2012
Publisher
BioMed Central
Published in
International Journal of Pediatric Endocrinology / Issue 1/2012
Electronic ISSN: 1687-9856
DOI
https://doi.org/10.1186/1687-9856-2012-20

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