A report of two cases with dolichosegmental intracranial arteries as a new feature of PHACES syndrome.
BACKGROUND
We describe two previously unreported cases with complete or incomplete expression of PHACES syndrome, a rare congenital syndromal pediatric disorder, which is characterized by posterior cranial fossa malformations, large facial hemangiomas, arterial anomalies, coarctation of the aorta and cardiac defects, abnormalities of the eye, sternal and supraabdominal raphe defects.


METHODS
These two children exhibited a feature not reviewed extensively in the literature, namely, segmental elongation and dilatation of intracranial arteries associated with intracranial occlusive arterial disease, predominantly on the anterior division of the internal carotid artery (ICA) and on the P2 segment of the posterior cerebral artery. This dolichoectasia was found at the distal cervical internal carotid artery, the intradural segment of the ICA before the division, the trigeminal artery, and the posterior division of the ICA. We presume that the different forms of arterial involvement in PHACES syndrome (arterial stenoses, segmental agenesis of vessels, and the dolichoectasia described in this study) constitute a spectrum of angiogenetic dysfunctions related to an embryonic event involving several cephalic neural crest segments of the dorsal aorta.
Baccin
Carlos E
CE
Service de Neuroradiologie Diagnostique et Thérapeutique, Hôpital de Bicetre, 78 rue du General-Leclerc, 94275, Le Kremlin Bicêtre, France.
Krings
Timo
T
Alvarez
Hortensia
H
Ozanne
Augustin
A
Lasjaunias
Pierre L
PL
D001921:Brain / Q000473:pathology; D002343:Carotid Artery, Internal / Q000002:abnormalities / Q000473:pathology; D002536:Cerebral Arteries / Q000473:pathology*; D002675:Child, Preschool; D003388:Cranial Fossa, Posterior / Q000002:abnormalities*; D019465:Craniofacial Abnormalities / Q000473:pathology*; D005124:Eye Abnormalities / Q000150:complications* / Q000473:pathology*; D005260:Female; D006345:Heart Septal Defects, Ventricular / Q000150:complications / Q000473:pathology; D006391:Hemangioma / Q000473:pathology*; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D019767:Maxillofacial Abnormalities / Q000473:pathology; D020768:Middle Cerebral Artery / Q000473:pathology; D011903:Raphe Nuclei / Q000002:abnormalities; D012640:Seizures / Q000150:complications / Q000188:drug therapy; D020521:Stroke / Q000209:etiology; D013577:Syndrome; D014057:Tomography, X-Ray Computed