Menú

Inicio Revista Formación Noticias Agenda Categorías Quiénes Somos

Lhermitte-duclos disease associated with tuberous sclerosis. a case report and review of the literature

R. Ortega, F. Escamilla-Sevilla, J. Pastor, F. Romero, A. Mínguez-Castellanos Journal 30(09) ● Publication date 01/05/2000 ● Nota Clínica ● Views 1865 ● Downloads 407 Castellano English Português

Download PDF
ESP Add citation to
your library

Share this article on social networks:

Search in PubMed

By author

Ortega R Escamilla-Sevilla F Pastor J Romero F Minguez-Castellanos A

By keyword

Cerebellum Dysplasic gangliocytoma Lhermitte-Duclos disease Magnetic resonance Phacomatosis Tuberous sclerosis

See in PubMed

Current article Related articles

Vea nuestros másteres

[REV NEUROL 2000;30:833-836] PMID: 0 DOI: https://doi.org/10.33588/rn.3009.99249

Introduction. Lhermitte-Duclos disease is a rare disorder of the cerebellum of unknown origin in which dysplasic thickening of the cerebellar convolutions is seen. It usually occurs in young adults. Currently it is included in the phacomatosis group of disorders. Clinical case. A 19 year old woman attended the Emergency Department complaining of progressive orthostatic headache for the previous three months. On examination there were striking facial micro-nodular lesions suggestive of angiofibromas, a hypo-pigmented macula in the inframammary region and a hyperpigmented ‘café-au-lait’ macula in the right hypochondrium. On computerized tomography there was tetraventricular hydrocephalia. Cerebral magnetic resonance showed significant descent of the tonsils, hypertensive hydrocephalia and a lesion in the left cerebellum, apparently laminar hyperintensity in DP and T2, with thickening of some folia, not enhanced by intravenous contrast and suggestive of a dysplasic gangliocytoma. Laboratory investigations showed subclinical hypothyroidism. Other investigations were normal. The patient was treated by implanting a ventriculo-peritoneal shunt which has relieved the symptoms to date. Conclusions. Lhermitte-Duclos disease is probably not a single anatomo-clinical condition, assuming that it may be a cerebellar hamartoma associated with a phacomatosis with few clinical signs, whether it be Cowden’s disease, tuberous sclerosis as in this case or an ‘overlapping’ syndrome. The magnetic resonance findings are necessary and sufficient for the diagnosis of Lhermitte-Duclos disease.

Keywords Cerebellum Dysplasic gangliocytoma Lhermitte-Duclos disease Magnetic resonance Phacomatosis Tuberous sclerosis

Search in PubMed

By author

Ortega R Escamilla-Sevilla F Pastor J Romero F Minguez-Castellanos A

By keyword

Cerebellum Dysplasic gangliocytoma Lhermitte-Duclos disease Magnetic resonance Phacomatosis Tuberous sclerosis

See in PubMed

Current article Related articles

Search in PubMed

By author

Ortega R Escamilla-Sevilla F Pastor J Romero F Minguez-Castellanos A

By keyword

Cerebellum Dysplasic gangliocytoma Lhermitte-Duclos disease Magnetic resonance Phacomatosis Tuberous sclerosis

See in PubMed

Current article Related articles

Lhermitte-duclos disease associated with tuberous sclerosis. a case report and review of the literature

Share this article on social networks:

Search in PubMed

By author

By keyword

See in PubMed

Abierta la Preinscripción

Máster en Neurología Tropical y Enfermedades Infecciosas

6ª Edición

Abierta la Preinscripción

Máster en Neuropsicología de las Altas Capacidades Intelectuales

5ª Edición

Search in PubMed

By author

By keyword

See in PubMed

Search in PubMed

By author

By keyword

See in PubMed