Leopard syndrome and Chiari type I malformation: a case report and review of the literature.
BACKGROUND
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.


CONCLUSIONS
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.


CONCLUSIONS
In light of this spectrum, we propose that CM-1 should be considered in all patients presenting with LEOPARD-Noonan syndrome.
Beier
Alexandra D
AD
Department of Neurosurgery, Providence Hospital and Medical Centers, Southfield, Michigan 48075, USA. alexandra.beier@gmail.com
Barrett
Ryan J
RJ
Burke
Kelly
K
Kole
Bruce
B
Soo
Teck M
TM
D000015:Abnormalities, Multiple; D000328:Adult; D001139:Arnold-Chiari Malformation / Q000150:complications* / Q000175:diagnosis*; D003680:Deglutition Disorders / Q000150:complications / Q000601:surgery; D006801:Humans; D044542:LEOPARD Syndrome / Q000150:complications*; D008279:Magnetic Resonance Imaging; D008297:Male; D009634:Noonan Syndrome / Q000150:complications / Q000175:diagnosis