Document Detail

PHACE syndrome with intracerebral hemangiomas, heterotopia, and endocrine dysfunction.
MedLine Citation:
PMID:  17560503     Owner:  NLM     Status:  MEDLINE    
PHACE is an acronym to describe the association of posterior fossa brain malformations, hemangiomas, arterial anomalies, coarctation of the aorta, cardiac defects, and eye abnormalities. More than 200 cases have been reported. The present report presents the cases of two female infants with PHACE syndrome, both of whom had additional congenital defects of subependymal gray matter heterotopia, craniofacial arterial anomalies, and pituitary dysfunction. One had an extensive segmental facial hemangioma with ipsilateral intracranial hemangiomas. The other had multiple cutaneous hemangiomas, but no segmental facial hemangioma. These two cases suggest a further expansion of the spectrum of PHACE to include other forms of disordered cerebral development and endocrine dysfunction.
Gabriele Poindexter; Denise W Metry; A James Barkovich; Ilona J Frieden
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Pediatric neurology     Volume:  36     ISSN:  0887-8994     ISO Abbreviation:  Pediatr. Neurol.     Publication Date:  2007 Jun 
Date Detail:
Created Date:  2007-06-11     Completed Date:  2007-08-27     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8508183     Medline TA:  Pediatr Neurol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  402-6     Citation Subset:  IM    
Department of Dermatology, University of North Carolina at Chapel Hill, NC 27599-7287, USA.
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MeSH Terms
Abnormalities, Multiple / pathology*
Aortic Coarctation / pathology
Brain Diseases / pathology*
Cerebral Cortex / abnormalities
Choristoma / pathology*
Cranial Fossa, Posterior / abnormalities*
Eye Abnormalities / pathology
Hemangioma / pathology*
Magnetic Resonance Imaging
Pituitary Diseases / pathology*

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

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