Concomitant carotid aplasia and basilar artery occlusion in a child with PHACES syndrome

Abstract

We report a case of an 8-year-old girl with posterior fossa abnormalities, haemangioma, arterial lesions, cardiac abnormalities or coarctation of the aorta and eye abnormalities syndrome with right carotid aplasia and complete basilar occlusion. The patient initially presented at 2.5 weeks of age with a growing right facial haemangioma involving segments 1, 3 and 4. Initial MRI at 2.5 weeks of age revealed an extraconal right orbital haemangioma without posterior fossa abnormalities and MR angiography (MRA) 3 weeks later showed right internal carotid aplasia. A follow-up MRA and cerebral angiography at 8 years of age revealed a complete occlusion of the basilar artery that was not appreciated on previous imaging. Neurological function remains normal, meeting all age-appropriate milestones.

Initial Diagnostic Evaluation of the Child With Suspected Arterial Ischemic Stroke

“…Any segment of the ICA distribution may be affected, and some forms are consistent with the MMA phenotype. The vertebrobasilar circulation is occasionally affected, in isolation or in combination with the anterior circulation 75 . In CCVD, arterial occlusion or stenosis is considered to be the result of aberrant development, rather than acquired obstruction of a normally formed artery.…”

“…In CCVD, arterial occlusion or stenosis is considered to be the result of aberrant development, rather than acquired obstruction of a normally formed artery. Nonetheless, progression of steno-occlusive changes over time has been reported in PHACES-associated CCVD 75,76 . Depending on anatomic location, lesion multiplicity, and cardiac comorbidities, PHACES-associated CCVD may place affected children at significant risk of AIS 77,78 .…”

“…The vertebrobasilar circulation is occasionally affected, in isolation or in combination with the anterior circulation. 75 In CCVD, arterial occlusion or stenosis is considered to be the result of aberrant development, rather than acquired obstruction of a normally formed artery. Nonetheless, progression of steno-occlusive changes over time has been reported in PHACES-associated CCVD.…”

“…Nonetheless, progression of steno-occlusive changes over time has been reported in PHACES-associated CCVD. 75,76 Depending on anatomic location, lesion multiplicity, and cardiac comorbidities, PHACES-associated CCVD may place affected children at significant risk of AIS. 77,78 In contrast to acquired forms of MMA, PHACES-associated CCVD is frequently unilateral, and may not be progressive.…”