INTRODUCTION: 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. DISCUSSION: 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. CONCLUSION: In light of this spectrum, we propose that CM-1 should be considered in all patients presenting with LEOPARD-Noonan syndrome.
INTRODUCTION: 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. DISCUSSION: 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. CONCLUSION: In light of this spectrum, we propose that CM-1 should be considered in all patients presenting with LEOPARD-Noonan syndrome.
Authors: Simone Martinelli; Alessandro De Luca; Emilia Stellacci; Cesare Rossi; Saula Checquolo; Francesca Lepri; Viviana Caputo; Marianna Silvano; Francesco Buscherini; Federica Consoli; Grazia Ferrara; Maria C Digilio; Maria L Cavaliere; Johanna M van Hagen; Giuseppe Zampino; Ineke van der Burgt; Giovanni B Ferrero; Laura Mazzanti; Isabella Screpanti; Helger G Yntema; Willy M Nillesen; Ravi Savarirayan; Martin Zenker; Bruno Dallapiccola; Bruce D Gelb; Marco Tartaglia Journal: Am J Hum Genet Date: 2010-07-08 Impact factor: 11.025
Authors: Karen W Gripp; Dina J Zand; Laurie Demmer; Carol E Anderson; William B Dobyns; Elaine H Zackai; Elizabeth Denenberg; Kim Jenny; Deborah L Stabley; Katia Sol-Church Journal: Am J Med Genet A Date: 2013-08-05 Impact factor: 2.802
Authors: Karen W Gripp; Kimberly A Aldinger; James T Bennett; Laura Baker; Jessica Tusi; Nina Powell-Hamilton; Deborah Stabley; Katia Sol-Church; Andrew E Timms; William B Dobyns Journal: Am J Med Genet A Date: 2016-06-05 Impact factor: 2.802