The authors present a 31-year-old man with a Chiari type I malformation (CM-1) occurring in conjunction with LEOPARD syndrome. He presented with severe dysphagia requiring placement of a percutaneous endoscopic gastrostomy (PEG) tube. Evaluation included magnetic resonance imaging (MRI) of the brain and cervical spine that revealed CM-1 with an extensive cervical syrinx. The patient underwent a suboccipital craniectomy with C1 laminectomy and duraplasty. His symptoms quickly resolved and his PEG tube was removed.The occurrence of a CM-1 with LEOPARD syndrome has only been reported once, whereas CM-1 and Noonan syndrome have been linked in several cases. The similarity between LEOPARD and Noonan syndromes has been reported and many propose they represent 2 entities along a spectrum.In light of this spectrum, we propose that CM-1 should be considered in all patients presenting with LEOPARD-Noonan syndrome.

作者：Alexandra D, Beier；Ryan J, Barrett；Kelly, Burke；Bruce, Kole；Teck M, Soo

来源：The neurologist 2009 年 15卷 1期