Clinical and Radiological Aspects of Dysplastic Gangliocytoma (Lhermitte-Duclos Disease): A Report of Two Cases with Review of the Literature

Milbouw, G; Born, Jochen; Martin, Didier; Collignon, J; Hans, Pol; Reznik, M; Bonnal, J

doi:10.1227/00006123-198801000-00020

Cited by 42 publications

(35 citation statements)

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“…From the published surgical experiences and from our own cases, a large survival time could be expected when a presumable complete macroscopic excision of the lesion is completed [21]. No cases of late recurrence have been reported after a totally removed gangliocytoma of the cerebellum.…”

Section: Discussionmentioning

confidence: 80%

Dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease) and its relation to the multiple hamartoma syndrome (Cowden disease)

Rimbau

Isamat

1994

J Neuro-Oncol

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The clinical manifestations, surgical treatment and postoperative results of three patients with gangliocytomas of the cerebellum (Lhermitte-Duclos disease) are presented. Particular attention is placed in one of the cases, that of a young woman with a short clinical history of episodic symptoms of intracranial hypertension, dizziness and ataxia, with a concomitant frontal meningioma and in the general context of a multiple hamartoma syndrome (Cowden disease). The possible relationship between both diseases is contemplated, since they can be the extremes of a wide spectrum of a peculiar form of phakomatosis.

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Section: Discussionmentioning

confidence: 80%

Dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease) and its relation to the multiple hamartoma syndrome (Cowden disease)

Rimbau

Isamat

1994

J Neuro-Oncol

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“…These cases and subsequently reported ones appeared to be predominantly sporadic, but the number of reported cases remains small. Mental retardation is also common [Milbouw et al, 1988].…”

Section: Lhermitte-duclos Syndrome and Cowden Disease-the Multiple Hamentioning

confidence: 99%

Inherited macrocephaly-hamartoma syndromes

DiLiberti

1998

Am. J. Med. Genet.

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Recent discoveries in the molecular biology of the phosphatase and tensin homolog (PTEN) locus in the q22-23 region of chromosome 10 prove and/or suggest that several syndromes previously considered to be clinically and genetically distinct entities should actually be unified into a single entity. This conclusion is most secure for the Cowden and "Bannayan-Zonana" phenotypes, but almost certainly should also include the "Riley-Ruvalcaba" and Lhermitte-Duclos phenotypes as well benign familial macrocephaly and external hydrocephalus. The clinical and molecular data supporting this unification are presented along with a proposal for new nomenclature-the PTEN MATCHS (macrocephaly, autosomal dominant, thyroid disease, cancer, hamartomata, skin abnormalities) syndrome-based on the observed clinical abnormalities.

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“…An abnormal enlargement of the CB can be also seen in some well-known metabolic and genetic diseases or clinical syndromes such as Lhermitte-Duclos (3,4), Sotos syndrome (5), Costello syndrome (6), Williams syndrome (7), Alexander disease (8), mucopolysaccharidoses (9) Original Article Isolated macrocerebellum: description of six cases and literature review and fucosidosis (10).…”

Section: Introductionmentioning

confidence: 99%

Isolated macrocerebellum: description of six cases and literature review

D’Arco

Ugga

Caranci

et al. 2016

Quant. Imaging Med. Surg.

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Background: Macrocerebellum is a rare entity described as an isolated and abnormal increase of the cerebellum (CB) size without morphological or signal abnormalities. There have been only eleven patients with macrocerebellum reported in the literature so far. Results and Discussion: Quantitative analysis confirmed an increased cerebellar volume relatively to the STB volume ("t": 6.9518; P<0.001) and to the WB ("t": 7.1415; P<0.001) volume in comparison to the normal controls available in literature. Clinical characteristics and other neuroradiological findings of the patients are described. We also describe the differential features between isolated macrocerebellum and other pathological conditions that are characterized by cerebellar enlargement such as Lhermitte-Duclos, Sotos syndrome, Costello syndrome, Williams syndrome, Alexander disease and fucosidosis. Furthermore a detailed literature review is provided. Macrocerebellum is always associated with an abnormal mental and motor development. Conclusion:Macrocerebellum is a neuroradiological entity that can be identified qualitatively and confirmed quantitatively through volumetric analysis. This is the largest cohort of patients with macrocerebellum described so far. The data available in literature on this entity show that macrocerebellum is not a specific disease but an epiphenomenon found in heterogeneous brain disorders.

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Clinical and Radiological Aspects of Dysplastic Gangliocytoma (Lhermitte-Duclos Disease): A Report of Two Cases with Review of the Literature

Cited by 42 publications

References 0 publications

Dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease) and its relation to the multiple hamartoma syndrome (Cowden disease)

Dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease) and its relation to the multiple hamartoma syndrome (Cowden disease)

Inherited macrocephaly-hamartoma syndromes

Isolated macrocerebellum: description of six cases and literature review

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