PHACE syndrome

Case contributed by Dr Wesam Shamma


History of fascial hemangioma and cardiac anomalies.

Patient Data

Age: 7 years
Gender: Female

Evidence of facial asymmetry with multiple enhancing lesions without calcification or underlying bone remodeling, the largest seen at the right lateral aspect of the upper lip, measuring about 2.2 x 1.4 x 1.2 cm, and a small lobulated enhancing lesion seen in the right temporal area, anterior to the TM joint,  measuring about 1 x 0.6 x 0.7 cm, in addition to, smaller areas of enhancement seen in the right parotid area and anterior to the right orbit.

Evidence of posterior fossa anomaly with hypoplastic right cerebellar hemisphere and vermis with prominent CSF cleft communicating with the posterior aspect of the 4th ventricle associated with asymmetry of the posterior aspect of the skull.

Evidence of vascular anomalies with severe hypoplastic cervical and petrous right internal carotid artery. The cavernous,  supraclinoid, and terminal segments of the right ICA are well seen and enhanced giving the right ophthalmic, ACA, and MCA

Also, there is an arterial branch communicating the right ICA cavernous segment with the basilar artery,  representing a persistent primitive trigeminal artery.

The right posterior communicating artery seems to supply the right middle cerebral artery. Hypoplasia of the left posterior communicating artery.

The left vertebral artery is dominant with a hypoplastic/absent intracranial segment of the right vertebral artery.

Evidence of medusa head appearance was noted in the left cerebellar hemisphere with a large draining vein into the straight sinus suggesting DVA.

Case Discussion

PHACE syndrome is a phakomatosis that comprises of:

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