Lhermitte-Duclos disease: Clinical study with long-term follow-up in a single institution

Wang, Qiguang; Zhang, Si; Cheng, Jian; Liu, Wenke; Hui, Xuhui

doi:10.1016/j.clineuro.2017.09.007

Cited by 20 publications

(24 citation statements)

References 25 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…1 It was initially documented in 1920. 3,4 It usually presents in young adults, with no predilection for gender or race, 2,4,6,7 with a prevalence of < 1 for 1,000,000 patients. 1 It is a lesion of the cerebellar cortex, 3 characterized by loss of the normal cortex architecture and focal widening of the cerebellar folia.…”

Section: Discussionmentioning

confidence: 99%

“…Furthermore, individuals with LDD and Cowden disease or PTEN mutation should receive continuous attention in order to prevent the associated malignancies. 3,4,8 Although the confirmatory diagnosis is made through histopathological findings, the MRI can give good markers of the usual characteristics of this specific condition. Lesions are usually hypointense on T1-weighted sequence and hyperintense in T2-weighted and fluid-attenuated inversion recovery (FLAIR) sequences.…”

Section: Discussionmentioning

confidence: 99%

“…1,2 The first report was documented in 1920. [2][3][4] Patients can be asymptomatic for several years, but there are usually imprecise neurological signs for long periods. 1,5 Diagnosis is made through magnetic resonance imaging (MRI) and confirmed by histopathological exam.…”

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Cerebellar Dysplastic Gangliocytoma: Case Report

Filho

Susin

Köhler

et al. 2020

Arquivos Brasileiros de Neurocirurgia: Brazilian Neurosurgery

View full text Add to dashboard Cite

show abstract

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Cerebellar Dysplastic Gangliocytoma: Case Report

Filho

Susin

Köhler

et al. 2020

Arquivos Brasileiros de Neurocirurgia: Brazilian Neurosurgery

View full text Add to dashboard Cite

show abstract

“…Complete resection of the tumor is difficult due to the impossibility of clearly defining its margins. 19,20 In the largest series published to date, Jiang et al 19 evaluated 18 patients with LDD. Complete resection was possible in 9 of the 17 operated patients, and there was no recurrence in the late follow-up.…”

Section: Discussionmentioning

confidence: 99%

“…Despite the degree of resection (partial or subtotal), the outcome is favorable, and recurrence is rare. 19,20 In the second largest published series, Wang et al 20 evaluated 12 patients, and a complete resection was achieved in 3 patients. Only one recurrence was reported.…”

Section: Discussionmentioning

confidence: 99%

Lhermitte-Duclos Disease and Cowden Syndrome: A Case Report and Literature Review

et al. 2019

View full text Add to dashboard Cite

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.

show abstract

PTEN Hamartoma tumor syndrome in childhood: A review of the clinical literature

Macken

Tischkowitz

Lachlan

2019

American J of Med Genetics Pt C

View full text Add to dashboard Cite

PTEN hamartoma tumor syndrome (PHTS) is a highly variable autosomal dominant condition associated with intellectual disability, overgrowth, and tumor predisposition phenotypes, which often overlap. PHTS incorporates a number of historical clinical presentations including Bannayan‐Riley‐Ruvalcaba syndrome, Cowden syndrome, and a macrocephaly‐autism/developmental delay syndrome. Many reviews in the literature focus on PHTS as an adult hamartoma and malignancy predisposition condition. Here, we review the current literature with a focus on pediatric presentations. The review starts with a summary of the main conditions encompassed within PHTS. We then discuss PHTS diagnostic criteria, and clinical features. We briefly address rarer PTEN associations, and the possible role of mTOR inhibitors in treatment. We acknowledge the limited understanding of the natural history of childhood‐onset PHTS as a cancer predisposition syndrome and present a summary of important management considerations.

show abstract

Lhermitte-Duclos disease: Clinical study with long-term follow-up in a single institution

Cited by 20 publications

References 25 publications

Cerebellar Dysplastic Gangliocytoma: Case Report

Cerebellar Dysplastic Gangliocytoma: Case Report

Lhermitte-Duclos Disease and Cowden Syndrome: A Case Report and Literature Review

PTEN Hamartoma tumor syndrome in childhood: A review of the clinical literature

Contact Info

Product

Resources

About