Long-term clinical and radiological trajectories of craniocervical vasculopathy in children with PHACE syndrome

Moran Hausman-Kedem; Elysa Widjaja; Ronan J Vieira Neto; Elena Pope; Irene Lara-Corrales; Nomazulu Dlamini; Daune Macgregor; Elizabeth Pulcine; Gabrielle Deveber; Mahendranath Moharir

doi:10.1111/dmcn.15916

Long-term clinical and radiological trajectories of craniocervical vasculopathy in children with PHACE syndrome

Dev Med Child Neurol. 2024 Apr 10. doi: 10.1111/dmcn.15916. Online ahead of print.

Authors

Affiliations

¹ Tel Aviv Sourasky Medical Center, Pediatric Neurology Institute, Dana-Dwek Children's Hospital, Tel Aviv, Israel.
² Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
³ Division of Neuroradiology, Department of Diagnostic Imaging, The Hospital for Sick Children, Toronto, ON, Canada.
⁴ Department of Medical Imaging, Ann & Robert H. Lurie Children's Hospital, Chicago, USA.
⁵ Department of Pediatric Neurology, Hospital Sírio-Libanês, São Paulo, Brazil.
⁶ Division of Dermatology, Department of Pediatrics, Hospital for Sick Children, Toronto, ON, Canada.
⁷ Children's Stroke Program, Division of Neurology, Department of Pediatrics, The Hospital for Sick Children, Toronto, ON, Canada.

PMID: 38597798
DOI: 10.1111/dmcn.15916

Abstract

Aim: To describe the rates of stroke and craniocervical vasculopathy progression in children with posterior fossa malformations, hemangioma, arterial anomalies, coarctation of the aorta/cardiac defects, and eye abnormalities (PHACE) syndrome.

Method: A single-center, retrospective natural history study of children with PHACE syndrome. Clinical and sequential neuroimaging data were reviewed to study the characteristics and progression of vasculopathy and calculate the rates of arterial ischemic stroke (AIS) and transient ischemic stroke (TIA). Vasculopathy progression was defined as worsening or new vascular findings on follow-up magnetic resonance angiography.

Results: Thirty-four children with cerebrovascular abnormalities at the PHACE syndrome diagnosis were studied (age range = 2 to 18 years, 85% females). Median age at the initial diagnosis was 5.5 months (interquartile range = 1-52 months); median age at the last follow-up was 8 years 6 months (range = 2-18 years). Overall, 10 (29%) patients had radiological progression of their vasculopathy, with a cumulative progression-free rate of 73% (95% confidence interval [CI] = 0.57-0.89), and a cumulative TIA-free and AIS-free rate of 87% (95% CI = 0.745-0.99). Vasculopathy was continuously progressive in six patients (18%) at the last follow-up. Three patients (9%) had TIA and all had progressive vasculopathy. One patient had presumed perinatal AIS at the initial PHACE diagnosis, while no other patient experienced an AIS during the follow-up.

Interpretation: In children with PHACE syndrome, craniocervical vasculopathy is non-progressive and asymptomatic in the majority of cases. The risk of ischemic stroke in these children is very low. Larger and prospective studies are necessary to confirm these findings.