Cowden disease and Lhermitte-Duclos disease: an update. Case report and review of the literature.
OBJECTIVE
Cowden disease is a rare autosomal-dominant phacomatosis and cancer syndrome that is associated with Lhermitte-Duclos disease (LDD), also called dysplastic cerebellar gangliocytoma.


METHODS
In this review the authors summarize the additions to the literature during the past 5 years, with emphasis on new case reports and advances in imaging and molecular biology. Adult-onset LDD is now considered pathognomonic for Cowden disease. Approximately 220 cases of LDD have been reported. Magnetic resonance imaging in patients with LDD is often diagnostic, and imaging studies have facilitated accurate diagnosis and contributed to the improved outcome in affected patients. Cowden disease and other rare, related disorders, such as Bannayan-Riley-Ruvalcaba, Proteus, and Proteus- like syndromes, are often caused by mutations of the PTEN gene.


CONCLUSIONS
Because of the high incidence of systemic cancer in patients with Cowden disease, it is important for neurosurgeons to recognize the association between this disease and LDD and to refer affected patients for appropriate cancer screenings and interventions.
Robinson
Shenandoah
S
Division of Pediatric Neurosurgery, Rainbow Babies and Children's Hospital, Case Research Institute, Case School of Medicine, Cleveland, Ohio 44120, USA. Shenandoah.robinson@uhhs.com
Cohen
Alan R
AR
D000293:Adolescent; D002528:Cerebellar Neoplasms / Q000150:complications* / Q000175:diagnosis; D005729:Ganglioneuroma / Q000150:complications* / Q000175:diagnosis; D006223:Hamartoma Syndrome, Multiple / Q000150:complications* / Q000175:diagnosis; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods; D008954:Models, Biological; D012196:Review Literature as Topic; D014057:Tomography, X-Ray Computed / Q000379:methods