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  Lhermitte-Duclos disease in 3 children: A clinical long-term observation

Mori, A. C., Hoeltzenbein, M., Poetsch, M., Schneider, J. F., Brandner, S., & Boltshauser, E. (2003). Lhermitte-Duclos disease in 3 children: A clinical long-term observation. Neuropediatrics, 34(1), 30-35. doi:10.1055/s-2003-38623.

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Genre: Zeitschriftenartikel
Alternativer Titel : Neuropediatrics

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 Urheber:
Mori, A. C., Autor
Hoeltzenbein, M.1, Autor
Poetsch, M., Autor
Schneider, J. F., Autor
Brandner, S., Autor
Boltshauser, E., Autor
Affiliations:
1Max Planck Society, ou_persistent13              

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Schlagwörter: Lhermitte-Duclos disease; gangliocytoma; Cowden disease; PTEN mutation; cerebellum; child
 Zusammenfassung: We report three boys in whom a diagnosis of Lhermitte-Duclos disease (LDD) was assumed from characteristic neuroimaging findings. LDD was confirmed by an open biopsy in patient 1, while a biopsy in patient 2 was inconclusive. Histologic confirmation in patient 3 was deliberately not attempted. However, a follow-up observation of stable clinical and neuroimaging findings over 2, 5 and 11 years, respectively, support the diagnosis of LDD. Despite extensive expansion of the lesion with brainstem involvement, clinical signs in two boys were minimal, while one patient has cognitive impairment and a complex oculomotor disturbance. So far we found no evidence for an association with Cowden disease (CD). No germline PTEN mutations were detected in these children, but the amount of available biopsy tissue in patients 1 and 2 was insufficient for a complete genetic analysis of tumor tissue. In conclusion, LDD can usually be diagnosed by MRI. In view of the favourable natural history, a conservative “wait and see” strategy is justified, particularly if radical tumor resection is not possible. LDD is often not associated with CD and germline PTEN mutations seem not to be present in isolated LDD.

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Sprache(n): eng - English
 Datum: 2003-02
 Publikationsstatus: Erschienen
 Seiten: -
 Ort, Verlag, Ausgabe: -
 Inhaltsverzeichnis: -
 Art der Begutachtung: -
 Identifikatoren: eDoc: 127774
ISI: 000182367700005
DOI: 10.1055/s-2003-38623
 Art des Abschluß: -

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Titel: Neuropediatrics
  Alternativer Titel : Neuropediatrics
Genre der Quelle: Zeitschrift
 Urheber:
Affiliations:
Ort, Verlag, Ausgabe: -
Seiten: - Band / Heft: 34 (1) Artikelnummer: - Start- / Endseite: 30 - 35 Identifikator: ISSN: 0174-304X