Adult presentation of PHACES syndrome

Abstract

A significant percentage of children with hemangiomas may have PHACES syndrome which refers to the association of posterior fossa malformations, facial hemangiomas, arterial cerebrovascular abnormalities, cardiovascular anomalies, eye abnormalities and ventral defects like sternal clefting or supraumbilical raphe. A variety of factors have led to under diagnosis of PHACES syndrome in the past including lack of awareness and limited imaging modalities. Also, patients with PHACES syndrome with arterial cerebrovascular abnormalities can present with acute ischemic stroke. However, these patients usually present before one year of age. We describe a 29-year-old woman with no history of cerebrovascular disease who initially presented with symptoms of a stroke and was subsequently diagnosed to have PHACES syndrome exhibiting an array of multiple unusual imaging findings. We also discuss the current literature and recommendations about PHACES syndrome.

Figure 1

Photograph showing remnant of a facial hemangioma, most prominently seen over the left eye.

Figure 2

A) Sagittal T1-weighted image of the brain demonstrates a posterior fossa anomaly with vermian hypoplasia and expansile arachnoid cyst. B) Axial T2-weighted image demonstrates posterior fossa arachnoid cyst with cerebellar and vermian hypoplasia. Arachnoid cysts in bilateral Meckel’s caves can be appreciated (arrows). Note asymmetry of internal auditory canals. C,D) Non-contrast head CT demonstrates an amorphous hyperdense partially calcific structure projecting upon the right suprasellar cistern. There is demonstration of left cerebellar hypoplasia. Bone window image demonstrates abnormality of bilateral temporal bones is again noted including hypoplasia of the right and aplasia of the left internal auditory canal (IAC). Hypoplasia of the left bony carotid canal is not shown.

Figure 3

A-D) Diffusion-weighted imaging demonstrates multiple punctate areas of restricted diffusion in deep temporal, parietal and occipital white matter compatible with acute ischemia.

Figure 4

A-D) Axial, coronal and sagittal maximum intensity projections (MIPs) of CT angiography (CTA) of the neck demonstrate aplasia of the left internal carotid artery (ICA) and the abnormal lateral course of right ICA. The ascending pharyngeal artery extends cranially with an anastomosing branch (through foramen of rotundum) to the cavernous portion of left ICA (arrow). E-F) AP oblique and lateral digital subtraction angiography (DSA) images demonstrate aplasia of the left internal carotid artery (ICA) and left ascending pharyngeal artery extending cranially with an anastomosing branch to the cavernous portion of left ICA. There is also demonstration of aneurysmal widening of the right carotid terminus prior to continuation into a moya-moya like mesh of vessels. Abnormal origins and courses of the subclavian vessels are also partially demonstrated (arrow points towards abnormal origin of the left subclavian artery from the postero-medial aortic arch).

Figure 4

A-D) Axial, coronal and sagittal maximum intensity projections (MIPs) of CT angiography (CTA) of the neck demonstrate aplasia of the left internal carotid artery (ICA) and the abnormal lateral course of right ICA. The ascending pharyngeal artery extends cranially with an anastomosing branch (through foramen of rotundum) to the cavernous portion of left ICA (arrow). E-F) AP oblique and lateral digital subtraction angiography (DSA) images demonstrate aplasia of the left internal carotid artery (ICA) and left ascending pharyngeal artery extending cranially with an anastomosing branch to the cavernous portion of left ICA. There is also demonstration of aneurysmal widening of the right carotid terminus prior to continuation into a moya-moya like mesh of vessels. Abnormal origins and courses of the subclavian vessels are also partially demonstrated (arrow points towards abnormal origin of the left subclavian artery from the postero-medial aortic arch).

Figure 5

A-D) Axial and coronal CT angiography images along with lateral digital subtraction angiography images demonstrate aneurismal widening and thrombosis of the right carotid terminus prior to its continuation into a moya-moya like mesh of vessels.

Figure 6

A,B) Lateral and PA view of the posterior circulation demonstrate bifurcation of proximal basilar artery into two small anterior inferior cerebral arteries with no definite basilar artery beyond the bifurcation. Fetal origin of the left posterior cerebral artery was demonstrated. Extensive collateral circulation was seen in the expected position of right posterior cerebral artery but no distinct vessel was identified.