Pierre-Robin syndrome associated with Chiari type I malformation

Childs Nerv Syst. 2003 Jun;19(5-6):380-3. doi: 10.1007/s00381-003-0740-2. Epub 2003 May 14.

Abstract

Case report: Pierre-Robin syndrome (PRS) is a rare congenital malformation that shows severe micrognathia and cleft soft palate. A 15-year-old boy who was admitted with occipital headache and gait disturbance was diagnosed with PRS. Radiological evaluation revealed severe herniation of the cerebellar tonsil and multiple craniovertebral osseous anomalies. We carried out foramen magnum decompression (FMD) with duroplasty. Postoperative MRI showed the cerebellar tonsil was freed from strangulation.

Result and conclusion: This patient presented with the common finding between PRS and Chiari type I on the embryological aspect by illustrating pathophysiology of the Chiari I malformation. To our knowledge, this is the first reported case of PRS associated with Chiari malformation type I.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Arnold-Chiari Malformation / complications*
  • Arnold-Chiari Malformation / surgery
  • Cleft Palate / surgery
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Micrognathism / surgery
  • Pierre Robin Syndrome / complications*
  • Pierre Robin Syndrome / diagnostic imaging
  • Pierre Robin Syndrome / surgery
  • Radiography
  • Tongue / abnormalities