Prevalence and Clinical Characteristics of Headaches in PHACE Syndrome

J Child Neurol. 2016 Mar;31(4):468-73. doi: 10.1177/0883073815599261. Epub 2015 Aug 13.

Abstract

PHACE (posterior fossa brain malformation, hemangiomas, arterial anomalies, coarctation of the aorta and cardiac defects, and eye abnormalities) syndrome is a neurocutaneous disorder often involving the cerebral vasculature. PHACE patients appear to have early-onset and severe headaches more commonly than children without PHACE. The objective of this study was to characterize the clinical features and prevalence of headache by conducting a cross-sectional survey of families in 2 large PHACE registries. Sixty-six percent of eligible families completed the survey in which 62.7% of respondents reported headaches. Average age of headache onset was 48.8 months. Females were more likely to have headaches (68.6% vs 30.8%, P = .014). Families reported associated migrainous features including nausea (62.5%), vomiting (37.5%), photophobia (75%), and phonophobia (75%). Headaches occurred at least weekly in 29.4%, lasted ≥1 hour in 85.4%, and led to ≥1 hospital admission in 15.7%. Three respondents with headaches had at least 1 ischemic stroke. We demonstrated that headaches are common among PHACE patients, develop at an early age, and have migrainous features.

Keywords: PHACE; Pascual-Castroviejo syndrome type II; adolescent; headache; hemangioma; migraine; pediatric; vasculopathy.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Age of Onset
  • Aortic Coarctation / epidemiology*
  • Child
  • Child, Preschool
  • Cross-Sectional Studies
  • Eye Abnormalities / epidemiology*
  • Family
  • Female
  • Headache / epidemiology*
  • Headache / physiopathology
  • Headache / therapy
  • Humans
  • Infant
  • Male
  • Neurocutaneous Syndromes / epidemiology*
  • Prevalence
  • Registries
  • Sex Factors

Supplementary concepts

  • PHACE association