Kimberly A Foster1, William J Ares2, Zachary J Tempel2, Andrew A McCormick3, Ashok Panigrahy4, Lorelei J Grunwaldt5, Stephanie Greene2. 1. Department of Neurosurgery, Children's Hospital of Pittsburgh, University of Pittsburgh Medical Center, 4401 Penn Ave, Faculty Pavilion, 4th Floor, Pittsburgh, PA, 15224, USA. kafoster@gmail.com. 2. Department of Neurosurgery, Children's Hospital of Pittsburgh, University of Pittsburgh Medical Center, 4401 Penn Ave, Faculty Pavilion, 4th Floor, Pittsburgh, PA, 15224, USA. 3. Department of Pediatrics, Children's Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, PA, USA. 4. Department of Neuroradiology, Children's Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, PA, USA. 5. Department of Plastic and Reconstructive Surgery, Children's Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, PA, USA.
Abstract
INTRODUCTION: PHACE syndrome is a neurocutaneous disorder involving large facial hemangiomas in association with posterior fossa abnormalities, cerebral arterial anomalies, cardiac defects, and eye abnormalities. A recent consensus statement has delineated criteria necessary for the diagnosis of PHACE syndrome. Extracutaneous manifestations of PHACE syndrome predominately affect the cerebrovascular system. To date, there are no reports of cerebral cavernous malformations (CCMs) in children with PHACE syndrome. METHODS: We reviewed the charts of children admitted to the Children''s Hospital of Pittsburgh who met criteria for PHACE syndrome, and evaluated neuroimaging for cerebrovascular abnormalities, including the finding of CCMs. RESULTS: Six children met criteria for PHACE syndrome at our institution over a 10-year period. All children were female. All children had cerebrovascular abnormalities sufficient to meet major criteria for diagnosis. Four children (66.7 %) were found incidentally to have CCMs; all lesions measured less than 5 mm at the time of diagnosis and were asymptomatic. CONCLUSION: At present, CCMs are not listed among the diagnostic criteria for PHACE syndrome, and they have not previously been reported in association with PHACE syndrome. Hypoxic injury in utero may be the common denominator in the pathogenesis of many of the abnormalities already accepted in the criteria for PHACE syndrome and the formation of CCMs. In the setting of PHACE syndrome, we encourage clinicians to evaluate children for CCMs, which are readily apparent on the already-recommended screening MRIs.
INTRODUCTION: PHACE syndrome is a neurocutaneous disorder involving large facial hemangiomas in association with posterior fossa abnormalities, cerebral arterial anomalies, cardiac defects, and eye abnormalities. A recent consensus statement has delineated criteria necessary for the diagnosis of PHACE syndrome. Extracutaneous manifestations of PHACE syndrome predominately affect the cerebrovascular system. To date, there are no reports of cerebral cavernous malformations (CCMs) in children with PHACE syndrome. METHODS: We reviewed the charts of children admitted to the Children''s Hospital of Pittsburgh who met criteria for PHACE syndrome, and evaluated neuroimaging for cerebrovascular abnormalities, including the finding of CCMs. RESULTS: Six children met criteria for PHACE syndrome at our institution over a 10-year period. All children were female. All children had cerebrovascular abnormalities sufficient to meet major criteria for diagnosis. Four children (66.7 %) were found incidentally to have CCMs; all lesions measured less than 5 mm at the time of diagnosis and were asymptomatic. CONCLUSION: At present, CCMs are not listed among the diagnostic criteria for PHACE syndrome, and they have not previously been reported in association with PHACE syndrome. Hypoxic injury in utero may be the common denominator in the pathogenesis of many of the abnormalities already accepted in the criteria for PHACE syndrome and the formation of CCMs. In the setting of PHACE syndrome, we encourage clinicians to evaluate children for CCMs, which are readily apparent on the already-recommended screening MRIs.
Authors: Dawn H Siegel; Kimberly A Tefft; Teresa Kelly; Craig Johnson; Denise Metry; Patricia Burrows; Elena Pope; Maria Cordisco; Kristen E Holland; Mohit Maheshwari; Phillip Keith; Maria Garzon; Christopher Hess; Ilona J Frieden; Heather J Fullerton; Beth A Drolet Journal: Stroke Date: 2012-03-22 Impact factor: 7.914
Authors: D W Metry; A N Haggstrom; B A Drolet; E Baselga; S Chamlin; M Garzon; K Horii; A Lucky; A J Mancini; B Newell; A Nopper; G Heyer; I J Frieden Journal: Am J Med Genet A Date: 2006-05-01 Impact factor: 2.802
Authors: Mark E Kleinman; Matthew R Greives; Samara S Churgin; Keith M Blechman; Eric I Chang; Daniel J Ceradini; Oren M Tepper; Geoffrey C Gurtner Journal: Arterioscler Thromb Vasc Biol Date: 2007-09-13 Impact factor: 8.311
Authors: Mark D Mamlouk; Mohit Maheshwari; Patricia E Burrows; Dawn H Siegel; Ilona J Frieden; Beth A Drolet; Christopher P Hess Journal: Childs Nerv Syst Date: 2017-06-16 Impact factor: 1.475