PHACES association: A neuroradiologic review of 17 patients

American Journal of Neuroradiology

Volumn 29, Issue 4, 2008, Pages 807-813

  Oza, V S ^a   Wang, E ^a   Berenstein, A ^b,c   Waner, M ^b,c   Lefton, D ^b,c   Wells, J ^a   Blei, Francine ^a,d  

^a NEW YORK UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b ST LUKE S ROOSEVELT HOSPITAL CENTER   (United States)

^c ALBERT EINSTEIN COLLEGE OF MEDICINE   (United States)

^d NEW YORK UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTERY DISEASE; ARTERY MALFORMATION; BRAIN BLOOD VESSEL; CENTRAL NERVOUS SYSTEM MALFORMATION; CEREBROVASCULAR MALFORMATION; COMPUTER ASSISTED TOMOGRAPHY; CONGENITAL HEART MALFORMATION; DEVELOPMENTAL DISORDER; DISEASE ASSOCIATION; ENDOCRINE GLAND MALFORMATION; EYE MALFORMATION; FLOW RATE; HEMANGIOMA; HUMAN; MAGNETIC RESONANCE ANGIOGRAPHY; NEUROLOGIC DISEASE; NUCLEAR MAGNETIC RESONANCE IMAGING; PHACES SYNDROME; POSTERIOR FOSSA; REVIEW; RISK FACTOR; SKULL MALFORMATION; STERNUM; THORAX MALFORMATION;

ABNORMALITIES, MULTIPLE; CHILD; CHILD, PRESCHOOL; CRANIAL FOSSA, POSTERIOR; FACIAL NEOPLASMS; FEMALE; HEMANGIOMA; HUMANS; INFANT; INTRACRANIAL ARTERIOVENOUS MALFORMATIONS; MALE; NERVOUS SYSTEM MALFORMATIONS; SKIN NEOPLASMS; SYNDROME;

EID: 42449090568     PISSN: 01956108     EISSN: None     Source Type: Journal    
DOI: 10.3174/ajnr.A0937     Document Type: Review

References (32)

1. Haggstrom AN, Lammer EJ, Schneider RA, et al. Patterns of infantile hemangiomas: new clues to hemangioma pathogenesis and embryonic facial development. Pediatrics 2006;117:698-703
2. Waner M, North PE, Scherer KA, et al. The nonrandom distribution of facial hemangiomas. Arch Dermatol 2003;139:869-75
3. Pascual-Castroviejo I. Vascular and nonvascular intracranial malformation associated with external capillary hemangiomas. Neuroradiology 1978;16:82-84
4. 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;132:307-11
5. Pascual-Castroviejo I, Pascual-Pascual SI, Rafia S, et al. Hemangiomas, and cutaneous and intracranial vascular deformations (Pascual-Castroviejo syndrome type II): a case report [in Spanish]. Rev Neurol 2002;35:1034-36
6. Pascual-Castroviejo I. "New" 3C syndrome. Dev Med Child Neurol 1993;35:1026-27
7. Goh WH, Lo R. A new 3C syndrome: cerebellar hypoplasia, cavernous haemangioma and coarctation of the aorta. Dev Med Child Neurol 1993;35:637-41
8. Metry DW, Haggstrom AN, Drolet BA, et al. A prospective study of PHACE syndrome in infantile hemangiomas: demographic features, clinical findings, and complications. Am J Med Genet A 2006;140:975-86
9. Hersh JH, Waterfill D, Rutledge J, et al. Sternal malformation/ vascular dysplasia association. Am J Med Genet 1985;21:177- 86, 201-02
10. Grosso S, De Cosmo L, Bonifazi E, et al. Facial hemangioma and malformation of the cortical development: a broadening of the PHACE spectrum or a new entity? Am J Med Genet A 2004;124:192-95
11. Baccin CE, Krings T, Alvarez H, et al. A report of two cases with dolichosegmental intracranial arteries as a new feature of PHACES syndrome. Childs Nerv Syst 2007;23:559-67. Epub 2006 Oct 13
12. Tortori-Donati P, Fondelli MP, Rossi A, et al. Intracranial contrast-enhancing masses in infants with capillary haemangioma of the head and neck: intracranial capillary haemangioma? Neuroradiology 1999;41:369-75
13. Metry DW, Dowd CF, Barkovich AJ, et al. The many faces of PHACE syndrome. J Pediatr 2001;139:117-23
14. Heyer GL, Millar WS, Ghatan S, et al. The neurologic aspects of PHACE: case report and review of the literature. Pediatr Neurol 2006;35:419-24
15. Bhattacharya JJ, Luo CB, Alvarez H, et al. PHACES syndrome: a review of eight previously unreported cases with late arterial occlusions. Neuroradiology 2004;46:227-33
16. Orlow SJ, Isakoff MS, Blei F. Increased risk of symptomatic hemangiomas of the airway in association with cutaneous hemangiomas in a "beard" distribution. J Pediatr 1997;131:643-46
17. Pascual-Castroviejo I, Pascual-Pascual SI, Delgado J. Cutaneous hemangiomas and vascular abnormalities: persistence of embryonic vascularization. AJNR Am J Neuroradiol 2007;28:390-91
18. Pascual-Castroviejo I, Viano J, Moreno F, et al. Hemangiomas of the head, neck, and chest with associated vascular and brain anomalies: a complex neurocutaneous syndrome. AJNR Am J Neuroradiol 1996;17:461-71
19. Poetke M, Frommeld T, Berlien HP. PHACE syndrome: new views on diagnostic criteria. Eur J Pediatr Surg 2002;12:366-74
20. Pascual-Castroviejo I, Viano J, Pascual-Pascual SI, et al. Facial haemangioma, agenesis of the internal carotid artery and dysplasia of cerebral cortex: case report. Neuroradiology 1995;37:692-95
21. Aeby A, Guerrini R, David P, et al. Facial hemangioma and cerebral corticovascular dysplasia: a syndrome associated with epilepsy. Neurology 2003;60:1030-32
22. Bronen RA, Spencer DD, Fulbright RK. Cerebrospinal fluid cleft with cortical dimple: MR imaging marker for focal cortical dysgenesis. Radiology 2000;214:657-63
23. Torres-Vazquez J, Gitler AD, Fraser SD, et al. Semaphorin-plexin signaling guides patterning of the developing vasculature. Dev Cell 2004;7:117-23
24. Guerrini R, Dravet C, Raybaud C, et al. Epilepsy and focal gyral anomalies detected by MRI: electroclinico-morphological correlations and follow-up. Dev Med Child Neurol 1992;34:706-18
25. Kuzniecky RI. Neuroimaging in pediatric epilepsy. Epilepsia 1996;37(suppl 1):S10-21
26. Palmini A, Gambardella A, Andermann F, et al. Operative strategies for patients with cortical dysplastic lesions and intractable epilepsy. Epilepsia 1994; 35(suppl 6):S57-71
27. Jackson GD. New techniques in magnetic resonance and epilepsy. Epilepsia 1994;35(suppl 6):S2-13
28. Burrows PE, Robertson RL, Mulliken JB, et al. Cerebral vasculopathy and neurologic sequelae in infants with cervicofacial hemangioma: report of eight patients. Radiology 1998;207:601-07
29. Ersoy S, Mancini AJ. Hemifacial infantile hemangioma with intracranial extension: a rare entity. Pediatr Dermatol 2005;22:309-13
30. Poindexter G, Metry DW, Barkovich AJ, et al. PHACE syndrome with intracerebral hemangiomas, heterotopia, and endocrine dysfunction. Pediatr Neurol 2007;36:402-06
31. Judd CD, Chapman PR, Koch B, et al. Intracranial infantile hemangiomas associated with PHACE syndrome. AJNR Am J Neuroradiol 2007;28:25-29
32. Chuang YM, Liu CY, Pan PJ, et al. Anterior cerebral artery A1 segment hypoplasia may contribute to A1 hypoplasia syndrome. Eur Neurol 2007;57:208-11