Document Detail

Cowden disease and Lhermitte-Duclos disease: characterization of a new phakomatosis.
MedLine Citation:
PMID:  10690726     Owner:  NLM     Status:  MEDLINE    
OBJECTIVE: Lhermitte-Duclos disease, or dysplastic gangliocytoma of the cerebellum, is an unusual hamartomatous lesion that can cause progressive mass effects in the posterior fossa. Cowden disease, or multiple hamartoma-neoplasia syndrome, is a rare autosomal dominant disorder characterized by mucocutaneous hamartomas and high incidences of systemic malignancies. We recently treated a patient with manifestations of both Lhermitte-Duclos disease and Cowden disease, and we were intrigued by the occurrence of these two rare disorders in the same patient. The purpose of the present study was to examine the nature of the association between Lhermitte-Duclos disease and Cowden disease. METHODS: The records for all patients who had been diagnosed at our institution as having Lhermitte-Duclos disease were reviewed, to determine whether these patients also exhibited manifestations of Cowden disease. Data were obtained from multiple sources, including patient interviews, correspondence with treating physicians, and chart reviews. RESULTS: During the past 40 years, five patients were diagnosed at Case Western Reserve University as having Lhermitte-Duclos disease. All five patients exhibited manifestations of Cowden disease. Before this review, Cowden disease had not been diagnosed for three of the patients. In our most recent case, the diagnoses of both disorders were established preoperatively. That patient was observed to have a deletion in the critical portion of Exon 5 of the PTEN gene, the gene associated with Cowden disease. CONCLUSION: Inclusion of Lhermitte-Duclos disease in the Cowden disease spectrum suggests that Cowden disease is a true phakomatosis, with hamartomas arising from cutaneous and neural ectoderm. Recent advances in molecular genetics may help to refine the current descriptive classification of the phakomatoses. The association between Lhermitte-Duclos disease and Cowden disease has been under-recognized and under-reported. Recognition of this association has direct clinical relevance, because diligent long-term follow-up monitoring of individuals with Lhermitte-Duclos disease and Cowden disease may lead to the early detection of malignancy.
S Robinson; A R Cohen
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Neurosurgery     Volume:  46     ISSN:  0148-396X     ISO Abbreviation:  Neurosurgery     Publication Date:  2000 Feb 
Date Detail:
Created Date:  2000-03-23     Completed Date:  2000-03-23     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  7802914     Medline TA:  Neurosurgery     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  371-83     Citation Subset:  IM    
Division of Pediatric Neurological Surgery, Rainbow Babies and Childrens Hospital, and Department of Neurological Surgery, Case Western Reserve University School of Medicine, Cleveland, Ohio 44106, USA.
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MeSH Terms
Cerebellar Neoplasms / diagnosis*,  genetics,  pathology,  surgery
Cerebellum / pathology,  surgery
Chromosome Deletion
Diagnosis, Differential
Ganglioneuroma / diagnosis*,  genetics,  pathology,  surgery
Hamartoma Syndrome, Multiple / diagnosis*,  genetics,  pathology,  surgery
Magnetic Resonance Imaging
Neurocutaneous Syndromes / diagnosis*,  genetics,  pathology,  surgery
PTEN Phosphohydrolase
Phosphoric Monoester Hydrolases / genetics
Retrospective Studies
Tomography, X-Ray Computed
Tumor Suppressor Proteins*
Reg. No./Substance:
0/Tumor Suppressor Proteins; EC 3.1.3.-/Phosphoric Monoester Hydrolases; EC protein, human; EC Phosphohydrolase

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