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The nervous system is one of the most complex systems in our body. It is organized into two main divisions: the central nervous system (CNS) and the peripheral nervous system (PNS).
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Nervous system involvement in Pfeiffer syndrome.

Ioannis N Mavridis1, Desiderio Rodrigues2

  • 1Department of Neurosurgery, Birmingham Children's Hospital, Birmingham, West Midlands, UK. inmavridis@gmail.com.

Child'S Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery
|October 21, 2020
PubMed
Summary

Pfeiffer syndrome (PS) involves craniosynostosis and midface hypoplasia, significantly impacting the nervous system with primary brain defects and secondary skull-related issues. Early diagnosis and multidisciplinary management are crucial for affected individuals.

Keywords:
Brain anomaliesCraniosynostosisFibroblast growth factor receptorIntracranial hypertensionNeurological findingsPfeiffer syndrome

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Area of Science:

  • Genetics and Developmental Biology
  • Neurology
  • Craniofacial Surgery

Background:

  • Pfeiffer syndrome (PS) is a rare autosomal dominant disorder.
  • Characterized by craniosynostosis, midface hypoplasia, and limb abnormalities.
  • PS presents diverse neurological manifestations.

Purpose of the Study:

  • To review current knowledge on the nervous system's involvement in Pfeiffer syndrome.
  • To consolidate information on neurological complications and management.

Main Methods:

  • Systematic literature review.
  • Analysis of existing research on neurological aspects of PS.

Main Results:

  • PS causes primary brain anomalies (e.g., white matter disorders) and secondary issues (e.g., hydrocephalus, Chiari malformation) due to skull deformity.
  • Spinal anomalies include vertebral fusions.
  • Neurological abnormalities include mental retardation, learning difficulties, and seizures.

Conclusions:

  • Understanding PS's neurological impact is vital for pathogenesis, prognosis, and management.
  • Early diagnosis of neurological complications can be challenging.
  • Multidisciplinary team approach is essential for optimal patient care.