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PHACES Study

Columbia University Medical Center

PHACES Study

Beginning June 1, 2007, we will initiate a transcranial Doppler imaging study of children with PHACES syndrome (OMIM #606519) at the Morgan Stanley Children’s Hospital of New York, Columbia University Medical Center.

The PHACES acronym refers to malformations of the posterior fossa, facial infantile hemangiomas, arterial cerebral vascular anomalies, cardiovascular anomalies, abnormalities of the eye, and sternal clefting or supraumbilical raphe. Unlike Sturge Weber syndrome, PHACES patients have infantile hemangiomas rather than capillary malformations (port-wine stains). The hemangioma may or may not affect the facial segment that corresponds to the first trigeminal division, ‘V1’. The neurologic features of PHACES can be divided into two general categories: congenital anomalies which include structural malformation of the cerebral vasculature, cerebellum, and cerebrum and progressive stenoses (obstructions) and occlusions (closures) of the principal cerebral arteries. A subset of PHACES patients develops a moyamoya-like syndrome and/or arterial ischemic strokes.

Transcranial Doppler imaging (TCDI) is a safe, inexpensive, and effective means of identifying congenital cerebral vascular anomalies and detecting progressive, steno-occlusive arterial changes. We intend to perform a prospective clinical study evaluating PHACES patients by TCDI and carotid duplex ultrasonography.

Those of you who regularly manage PHACES patients realize the difficulty involved in screening for progressive vascular changes by MR angiography and the potential harm associated with sedation. This research should help to determine adequate screening intervals with an imaging technique that does not require sedation or contrast and can be performed in the office as the child lies comfortably in a parent’s lap. Much as conventional transcranial Doppler helps to stratify risk of stroke in children with sickle cell disease, we expect that TCDI will have similar utility in the screening and management of PHACES patients.

Please help us to recruit study subjects. We will evaluate children of any age. However, formal study requires serial TCDI in children without history of prior stroke, four months of age or younger. All patients must undergo a standard evaluation for PHACES syndrome including brain MRI with angiography and echocardiography prior to (or during) study enrollment. Study participation is free of charge. Unfortunately, we are not able to defray travel or parking expenses for families at this time.

We will not assume a role in, or intervene with, the clinical management of patients referred for study unless specifically requested at the time of referral. Results of each TCDI evaluation, particularly those suggestive of progressive vasculopathy, will be conveyed immediately to the referring physician.

This study has been approved by the Internal Review Board at Columbia University Medical Center. Please contact Dr. Heyer directly with study questions or referrals at (212) 342-2900 or by e-mail (gheyer@neuro.columbia.edu). If you are unsure whether a patient meets diagnostic criteria for PHACES syndrome, we will be happy to discuss the case. Enrollment begins June 1, 2007.