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Neurodevelopmental abnormalities in children with PHACE syndrome

Jennifer Tangtiphaiboontana1, Christopher P Hess, Michelle Bayer

  • 1School of Medicine, University of California, San Francisco, CA 94143, USA.

Journal of Child Neurology
|July 19, 2012
PubMed

Insights

Children with PHACE syndrome often experience neurodevelopmental issues, including language and gross motor delays. Cerebral structural abnormalities are linked to poorer neurodevelopmental outcomes in these patients.

Area of Science:

  • Pediatric Neurology
  • Neurocutaneous Syndromes
  • Developmental Pediatrics

Background:

  • PHACE syndrome is a rare neurocutaneous disorder.
  • Previous reports suggest neurodevelopmental abnormalities in affected children.
  • Characterized in 1996, PHACE syndrome requires further investigation into its developmental impact.

Purpose of the Study:

  • To investigate the prevalence and types of neurodevelopmental abnormalities in a cohort of children with PHACE syndrome.
  • To identify potential associations between structural brain abnormalities and neurodevelopmental outcomes.
  • To inform clinical practice and future research directions for PHACE syndrome.

Main Methods:

  • Multicenter, retrospective study of 93 children diagnosed with PHACE syndrome (1999-2010).
  • Detailed analysis of neurologic evaluations for 29 children aged ≥ 1 year (median age 4 years, 2 months).
  • Correlation of neurodevelopmental outcomes with cerebral and posterior fossa structural abnormalities.

Main Results:

  • 69% of evaluated children (20/29) exhibited neurodevelopmental abnormalities.
  • Language delay (44%) and gross motor delay (36%) were most common; fine motor delay was less frequent (8%).
  • Abnormal neurological exams were noted in 52%, with speech abnormalities being the most common finding. Cerebral structural abnormalities were significantly more frequent in children with abnormal neurodevelopmental outcomes (35% vs. 0%, P = .04).

Conclusions:

  • Young children with PHACE syndrome referred for neurological evaluation frequently present with language and gross motor delays.
  • Cerebral structural abnormalities may be associated with adverse neurodevelopmental outcomes in PHACE syndrome.
  • Prospective studies are essential to elucidate the long-term neurodevelopmental trajectory in PHACE syndrome.

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