Pierre-Robin syndrome associated with Chiari type I malformation.
METHODS
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.


CONCLUSIONS
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.
Department of Neurosurgery, Graduate School of Medicine, University of Hokkaido, N-15 W-7, Kita-Ku, 060-638, Sapporo, Japan. Jangbo@med.hokudai.ac.jp
Jangbo
J
Lee
Kazutoshi
K
Hida
Toshitaka
T
Seki
Jun
J
Kitamura
Yosinobu
Y
Iwasaki
D000293:Adolescent; D001139:Arnold-Chiari Malformation / Q000150:complications* / Q000601:surgery; D002972:Cleft Palate / Q000601:surgery; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008844:Micrognathism / Q000601:surgery; D010855:Pierre Robin Syndrome / Q000150:complications* / Q000000981:diagnostic imaging / Q000601:surgery; D011859:Radiography; D014059:Tongue / Q000002:abnormalities