Lhermitte–Duclos disease: A rare entity

Bhatia, Jasvinder Kaur; Bhatoe, Harjinder S; Vadhanan, Shashi

doi:10.1016/j.mjafi.2016.03.012

Cited by 5 publications

(17 citation statements)

References 5 publications

(5 reference statements)

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“…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%

“…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. It is still not clear if the cerebellar dysplastic gangliocytoma is a neoplastic or hamartomatous lesion of the cortex; if neoplastic, it corresponds to a grade I lesion of the WHO classification.…”

Section: Discussionmentioning

confidence: 99%

“…5 Generally, it has an indolent and chronic course, with the possibility of acute onset of symptoms. 3 It manifests with headache, visual disturbance, cerebellar dysfunction, ataxia, cranial nerve palsies, and obstructive hydrocephalus, 2,6,7 mainly in the 3 rd or 4 th decade of life. 6,7 Acute onset of neurological deficits, as in the case presented, is rarely reported.…”

Section: Discussionmentioning

confidence: 99%

“…1,5 Diagnosis is made through magnetic resonance imaging (MRI) and confirmed by histopathological exam. [1][2][3] We report the case of a 74-year-old patient, with sudden onset of symptoms, presenting this uncommon cerebellar lesion.…”

Section: Introductionmentioning

confidence: 97%

“…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 4 more Smart Citations

Cerebellar Dysplastic Gangliocytoma: Case Report

Filho

Susin

Köhler

et al. 2020

Arquivos Brasileiros de Neurocirurgia: Brazilian Neurosurgery

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 97%

Section: Introductionmentioning

confidence: 99%

See 3 more Smart Citations

Cerebellar Dysplastic Gangliocytoma: Case Report

Filho

Susin

Köhler

et al. 2020

Arquivos Brasileiros de Neurocirurgia: Brazilian Neurosurgery

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Cowden Syndrome and Lhermitte-Duclos Disease—a Case Report and Review of the Literature

Goh

Feng

et al. 2021

SN Compr. Clin. Med.

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Cowden syndrome (CS) is a rare, autosomal dominant, multisystem disease related to the mutation of phosphatase and tensin homolog (PTEN) tumor suppressor gene. It is characterized by the occurrence of multiple hamartomas and mucocutaneous lesions and is associated with a high risk of malignancies. Lhermitte-Duclos disease (LDD), or dysplastic cerebellar gangliocytoma, is a rare hamartomatous lesion of the cerebellar cortex with a unique "tiger stripe" appearance on magnetic resonance imaging (MRI). Since 1991, LDD has been considered pathognomonic and part of CS. In addition, as almost all adult onset LDD cases were associated with PTEN gene mutations, LDD and CS are both included in PTEN hamartoma tumor syndrome (PHTS). In this article, we report a 48-year-old female patient, who presented with a right cerebellar lesion resulting in hydrocephalus. The histology of the cerebellar lesion confirmed the diagnosis of LDD, and her clinical history is highly suggestive of CS. Due to the high incidence of multisystemic malignancies and other diseases, it is important for clinicians to be aware of the association between LDD and CS. Affected patients should be evaluated carefully and screened for cancers accordingly, so as to allow early diagnosis and treatment.

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