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Background/Objectives En coup de sabre (ECDS) and Parry-Romberg syndrome (PRS) are variants of linear morphea on the head and neck that can be associated with neurologic manifestations. Intracranial abnormalities on computed tomography (CT) and magnetic resonance imaging (MRI) can be present in a significant proportion of patients. Methods We describe 32 pediatric patients from our institution with ECDS or PRS, in whom neuroimaging was performed in 21 cases. We also review 51 additional patients from the literature. Results Nineteen percent of the children at our institution had intracranial abnormalities on MRI, half of whom were asymptomatic. Hyperintensities on T2-weighted sequences were the most common finding, present in all patients who had intracranial abnormalities on MRI. Seizures and headaches were the most common neurologic symptom, affecting 13% and 9% of our population, respectively. The presence of neurologic symptoms was not correlated with neuroimaging abnormalities as 2 asymptomatic patients had marked MRI findings, while the MRI was abnormal in only 2/9 symptomatic patients. Similarly, the severity of the superficial disease did not predict neurologic involvement; a patient with subtle skin involvement had striking MRI findings and seizures while another patient with a bony defect had no brain parenchymal involvement. Conclusions Neurologic symptoms and neuroimaging abnormalities are found in a surprisingly substantial percentage of children with ECDS and PRS. Early recognition of neurologic involvement is necessary as it affects treatment choices. As clinical predictors of intracranial abnormalities are poor, strong consideration should be given to obtaining an MRI prior to treatment initiation to assist in management decisions and establish a baseline examination.

Convergence of fMRI language paradigms across institutions offers the first step in providing a "Rosetta Stone" that provides a common reference point with which to compare and contrast the usefulness and reliability of fMRI data. From this common language task battery, future refinements and improvements are anticipated, particularly as objective measures of reliability become available. Some commonality of practice is a necessary first step to develop a foundation on which to improve the clinical utility of this field.

Three of four children had calvarial lesions, with involvement of the bony orbit in one, and large abscesses were present in the chest wall and the mediastinum of another. Lesions along the dorsal spine were demonstrated in three cases, two of which showed epidural extensions. Bone lesions in the thoracic cage accompanying those in the spine were also seen in two children, one of whom had a solitary destructive focus in a rib distant from the site of vertebral involvement. Bone lesions involving the first metacarpal in one case and the scapular wing in two others are also described. The diagnosis in each of the cases was confirmed by the identification of epitheloid giant cells and caseous necrosis or tubercle bacilli in fine needle aspirates or on tissue culture studies.

1. Objective Combine collective clinical experience using oral propranolol therapy in PHACE syndrome infants with cerebrovascular anomalies. 2. Design Retrospective study of patients evaluated between July 2008 and October 2011. 3. Setting Seven pediatric dermatology centers. 4. Patients 32 infants with definite PHACE syndrome and cervical and/or intracranial arterial anomalies. 5. Intervention Oral propranolol: average dose of 1.8 mg/kg/day divided t.i.d. or b.i.d., for an average duration of 12.3 months. 6. Main Outcome Measure Adverse neurologic events. 7. Results 7/32 (22%) patients were categorized as higher-risk for stroke, defined on MRA as severe, long-segment narrowing or non-visualization of major cerebral or cervical vessels without anatomic evidence for collateral circulation, often in the presence of concomitant cardiovascular comorbidities. Only 1 patient developed a change in neurologic status during propranolol treatment: a mild right hemiparesis that remained static and improved while propranolol was continued. An additional 3 patients had worsening hemangioma ulceration and/or tissue necrosis during therapy. 8. Conclusions This is the largest report thus far of PHACE patients treated with propranolol. While no catastrophic neurologic events occurred, serious complications, particularly severe ulcerations were seen in a minority of patients, and given the sample size we cannot negate the possibility that propranolol could augment the risk of stroke in this population. We continue to advise caution in using systemic beta-blockers, particularly for children with vascular anomalies at higher risk for stroke. Use of the lowest possible dosage, slow dosage titration, and t.i.d. dosing in order to minimize abrupt changes in blood pressure and close follow-up, including neurologic consultation as needed, are recommended.

Background and Purpose-PHACE is an acronym for posterior fossa brain malformations, hemangiomas, arterial anomalies, coarctation of the aorta and cardiac defects, and eye abnormalities. Several case reports of arterial ischemic stroke (AIS) in individuals with PHACE have been published, but risk factors for AIS in PHACE have not been clearly defined. The objective of this article is to review all cases of stroke in PHACE in children and describe clinical characteristics that may be associated with an increased risk of AIS. Methods-A literature and registry search was conducted to identify patients with PHACE who had experienced AIS. Data were analyzed to determine age of onset, presenting signs and symptoms, and clinical features among this cohort compared with PHACE without AIS. Results-Twenty-two individuals with PHACE and AIS were identified. Imaging of the arteries of the head and neck was reported in 20 of 22. Narrowing or nonvisualization of at least 1 great cerebral vessel was present in 19 of 20 and of those, 15 had Ն2 vessels involved. Aortic arch anomalies were reported in 13 of 22 individuals. Conclusions-Aplasia, hypoplasia, or occlusion of a major cerebral artery appears to be a significant risk factor for AIS in children with PHACE, especially when Ͼ1 vessel is involved or if there is coarctation of the aorta. (Stroke. 2012;43:1672-1674.)Key Words: arterial ischemic syndrome Ⅲ hemangioma Ⅲ Pascual-Castroviejo Type II syndrome Ⅲ PHACE syndrome Ⅲ PHACES association Ⅲ propranolol F rieden coined the term PHACE syndrome to describe the association of infantile hemangiomas of the head and neck with developmental anomalies. 1 PHACE is an acronym for Posterior fossa brain malformations, Hemangiomas, Arterial anomalies, Coarctation of the aorta and cardiac defects, and Eye abnormalities. Approximately 30% of infants with large, facial hemangiomas meet diagnostic criteria for definite PHACE with the most common extracutaneous finding being abnormalities of the craniocervical arteries. The relationship between arteriopathy and arterial ischemic stroke (AIS), a rare but devastating complication affecting a subset of individuals with PHACE, is poorly understood.In this study we review all known cases of PHACE-related stroke to determine age of onset, presenting symptoms, clinical characteristics, and associated comorbidities to further understand potential risk factors. Methods Data Extraction and Methodologic QualityAbstracts were reviewed to identify cases of stroke, and the relevant articles were reviewed in full by 3 authors. A pediatric neurologist (H.J.F.) independently reviewed the selected articles to confirm the stroke diagnosis and data regarding cerebrovascular imaging. For inclusion in this analysis, stroke was defined by (1) clinical symptoms such as sudden onset of focal neurological deficit, headaches, loss of consciousness, or seizure; and (2) CT or MRI documenting a large-territory infarct for arterial ischemic stroke or intracerebral, subarachnoid, and/or intraventricular hemorrhage in a lo...

PHACE syndrome represents the association of large infantile hemangiomas of the head and neck with brain, cerebrovascular, cardiac, ocular, and ventral/midline defects. Cardiac and cerebrovascular anomalies are the most common extracutaneous features of PHACE, and they also constitute the greatest source of potential morbidity. Congenital heart disease in PHACE is incompletely described, and this study was conducted to better characterize its features. This study of the International PHACE Syndrome Registry represents the largest central review of clinical, radiology, and pathology data for cardiovascular anomalies in PHACE patients to date. 62/150 (41%) subjects had intracardiac, aortic arch, or brachiocephalic vessel anomalies. Aberrant origin of a subclavian artery was the most common cardiovascular anomaly (present in 31/150 (21%) of subjects). Coarctation was the second most common anomaly, identified in 28/150 (19%), and can be missed clinically in PHACE patients because of the frequent association of arch obstruction with aberrant subclavian origin. 23/62 (37%) subjects with cardiovascular anomalies required procedural intervention. A higher percentage of hemangiomas were located on the left side of the head/neck in patients with coarctation (46% vs. 39%); however, hemangioma distribution did not predict the presence of cardiovascular anomalies overall. In conclusion, PHACE is associated with a high risk of congenital heart disease. Cardiac and aortic arch imaging with detailed assessment of arch patency and brachiocephalic origins is essential for any patient suspected of having PHACE. Longitudinal investigation is needed to determine the long-term outcomes of cardiovascular anomalies in PHACE.

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