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preLekára.sk / Journals / Czecho-Slovak Pathology / 2025 - 2

Dysplastic gangliocytoma of the cerebellum with an unusual radiological finding

Czech version

Authors: Markéta Hojsáková 1;  Jana Engelová 2,3;  Radim Brabec 4;  Tereza Piskáčková 1;  Marián Švajdler jr. 5,6;  Tomáš Klinger 7;  Iva Dolinová 1;  Renata Michalovská 8;  Tomáš Jirásek 7
Authors‘ workplace: Oddělení genetiky a molekulární diagnostiky, Centrum PATOS, Krajská nemocnice Liberec, a. s. 1;  Radiodiagnostické oddělení, Nemocnice Jablonec nad Nisou, p. o. 2;  Proton Therapy Center Czech s. r. o., Praha 3;  Oddělení neurochirurgie, Neurocentrum, Krajská nemocnice Liberec, a. s. 4;  Šiklův ústav patologie, Univerzita Karlova, Lékařská fakulta Plzeň, Fakultní nemocnice v Plzni 5;  Bioptická laboratoř, s. r. o., Plzeň 6;  Oddělení patologie, Centrum PATOS, Krajská nemocnice Liberec, a. s. 7;  GHC GENETICS, s. r. o, Praha 8
Published in: Čes.-slov. Patol., 61, 2025, No. 2, p. 92-97
Category: Original Article

Overview

Dysplastic gangliocytoma of the cerebellum, also known as Lhermitte-Duclos disease (LDD), is a rare lesion of the posterior cranial fossa, classified among glioneuronal and neuronal tumors of the CNS, WHO grade 1. It typically has a characteristic radiological appearance on magnetic resonance imaging in the form of „tiger stripes“ on T2-weighted images. In adults, LDD is often associated with Cowden syndrome and PTEN gene mutations. Our case report presents a 51-year-old patient with a somewhat atypical finding on magnetic resonance imaging, where histopathological examination surprisingly revealed dysplastic gangliocytoma of the cerebellum with a PTEN gene mutation, subsequently confirmed to be of germline origin. The patient was then examined for other manifestations of Cowden syndrome and is being followed up in a specialized clinic, with cascade genetic testing also conducted in her family.

Keywords:

dysplastic gangliocytoma of the cerebellum – Lhermitte-Duclos disease – Cowden syndrome – PTEN gene

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