Lhermitte-Duclos Disease and Cowden Syndrome: A Case Report and Literature Review
Lhermitte-Duclos disease (LDD), also known as dysplastic gangliocytoma of the cerebellum, is a rare, usually benign, slow-growing tumor, that commonly affects patients aged 30 to 50 years-old. The manifestations of dysplastic cerebellar gangliocytoma are nonspecific and are related both to the mass...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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Thieme Revinter Publicações Ltda.
2019-09-01
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| Series: | Brazilian Neurosurgery |
| Subjects: | |
| Online Access: | http://www.thieme-connect.de/DOI/DOI?10.1055/s-0039-1693682 |
| _version_ | 1819050927894560768 |
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| author | Mylena Miki Lopes Ideta Mylla Christie Oliveira Paschoalino Louise Makarem Oliveira Nelson Brancaccio dos Santos Marco Rodrigo Valdivia Sanz Robson Luis Oliveira de Amorim |
| author_facet | Mylena Miki Lopes Ideta Mylla Christie Oliveira Paschoalino Louise Makarem Oliveira Nelson Brancaccio dos Santos Marco Rodrigo Valdivia Sanz Robson Luis Oliveira de Amorim |
| author_sort | Mylena Miki Lopes Ideta |
| collection | DOAJ |
| description | Lhermitte-Duclos disease (LDD), also known as dysplastic gangliocytoma of the cerebellum, is a rare, usually benign, slow-growing tumor, that commonly affects patients aged 30 to 50 years-old. The manifestations of dysplastic cerebellar gangliocytoma are nonspecific and are related both to the mass effect produced by its growth and to the location of the lesion. Cerebellar symptoms such as ataxia are often present. In 40% of cases, the tumor is associated with Cowden syndrome, which is part of a group of genetic disorders called polypoid hamartoma complex. In this case report, the patient presented expansive lesion in the posterior fossa, compatible with LDD, associated with macrocephaly. These findings are considered major criteria for Cowden syndrome. When together, they confirm the diagnoses. To our knowledge, this is the first report of the association of LDD and Cowden syndrome in Brazil. |
| first_indexed | 2024-12-21T11:55:50Z |
| format | Article |
| id | doaj.art-e4c6c270562743508748fb616ed387a0 |
| institution | Directory Open Access Journal |
| issn | 0103-5355 2359-5922 |
| language | English |
| last_indexed | 2024-12-21T11:55:50Z |
| publishDate | 2019-09-01 |
| publisher | Thieme Revinter Publicações Ltda. |
| record_format | Article |
| series | Brazilian Neurosurgery |
| spelling | doaj.art-e4c6c270562743508748fb616ed387a02022-12-21T19:04:57ZengThieme Revinter Publicações Ltda.Brazilian Neurosurgery0103-53552359-59222019-09-01380431932310.1055/s-0039-1693682Lhermitte-Duclos Disease and Cowden Syndrome: A Case Report and Literature ReviewMylena Miki Lopes Ideta0Mylla Christie Oliveira Paschoalino1Louise Makarem Oliveira2Nelson Brancaccio dos Santos3Marco Rodrigo Valdivia Sanz4Robson Luis Oliveira de Amorim5Universidade Federal do Amazonas, Manaus, AM, BrazilUniversidade Federal do Amazonas, Manaus, AM, BrazilUniversidade Federal do Amazonas, Manaus, AM, BrazilPontificia Universidade Católica de São Paulo, São Paulo, SP, Brazil Hospital Dr. João Lúcio Pereira Machado, Manaus, AM, Brazil Universidade Federal do Amazonas, Manaus, AM, BrazilLhermitte-Duclos disease (LDD), also known as dysplastic gangliocytoma of the cerebellum, is a rare, usually benign, slow-growing tumor, that commonly affects patients aged 30 to 50 years-old. The manifestations of dysplastic cerebellar gangliocytoma are nonspecific and are related both to the mass effect produced by its growth and to the location of the lesion. Cerebellar symptoms such as ataxia are often present. In 40% of cases, the tumor is associated with Cowden syndrome, which is part of a group of genetic disorders called polypoid hamartoma complex. In this case report, the patient presented expansive lesion in the posterior fossa, compatible with LDD, associated with macrocephaly. These findings are considered major criteria for Cowden syndrome. When together, they confirm the diagnoses. To our knowledge, this is the first report of the association of LDD and Cowden syndrome in Brazil.http://www.thieme-connect.de/DOI/DOI?10.1055/s-0039-1693682lhermitte-duclos diseasecowden syndromehamartoma syndromecerebellum |
| spellingShingle | Mylena Miki Lopes Ideta Mylla Christie Oliveira Paschoalino Louise Makarem Oliveira Nelson Brancaccio dos Santos Marco Rodrigo Valdivia Sanz Robson Luis Oliveira de Amorim Lhermitte-Duclos Disease and Cowden Syndrome: A Case Report and Literature Review Brazilian Neurosurgery lhermitte-duclos disease cowden syndrome hamartoma syndrome cerebellum |
| title | Lhermitte-Duclos Disease and Cowden Syndrome: A Case Report and Literature Review |
| title_full | Lhermitte-Duclos Disease and Cowden Syndrome: A Case Report and Literature Review |
| title_fullStr | Lhermitte-Duclos Disease and Cowden Syndrome: A Case Report and Literature Review |
| title_full_unstemmed | Lhermitte-Duclos Disease and Cowden Syndrome: A Case Report and Literature Review |
| title_short | Lhermitte-Duclos Disease and Cowden Syndrome: A Case Report and Literature Review |
| title_sort | lhermitte duclos disease and cowden syndrome a case report and literature review |
| topic | lhermitte-duclos disease cowden syndrome hamartoma syndrome cerebellum |
| url | http://www.thieme-connect.de/DOI/DOI?10.1055/s-0039-1693682 |
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