Sinus pericranii in achondroplasia: a case report and review of the literature

Clin Dysmorphol. 2017 Oct;26(4):252-255. doi: 10.1097/MCD.0000000000000196.

Abstract

In the field of dysmorphology, achondroplasia is a well-known disorder. Sinus pericranii (SP), however, is not. The latter condition is a rare vascular malformation characterized by abnormal connections between the intracranial and the extracranial venous drainage pathways. The etiology of SP remains unclear, and yet, these defects can be present at birth, develop spontaneously later, or evolve following head trauma. Here, we report on a 2-year-old male with achondroplasia, SP, and craniocervical junction stenosis. The latter two defects required surgical correction. SP is an underappreciated malformation that we propose may be induced by increased intracranial pressure. This case appears to be the first report of this condition in achondroplasia.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Achondroplasia / complications*
  • Achondroplasia / diagnostic imaging
  • Achondroplasia / surgery
  • Child, Preschool
  • Humans
  • Infant
  • Magnetic Resonance Imaging
  • Male
  • Monitoring, Intraoperative
  • Sinus Pericranii / complications*
  • Sinus Pericranii / diagnostic imaging
  • Sinus Pericranii / surgery