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.
- Klíčová slova
- Cowden syndrome, Lhermitte-Duclos disease, PTEN gene, dysplastic gangliocytoma of the cerebellum,
- MeSH
- fosfohydroláza PTEN genetika MeSH
- ganglioneurom * diagnostické zobrazování patologie genetika MeSH
- lidé středního věku MeSH
- lidé MeSH
- magnetická rezonanční tomografie MeSH
- nádory mozečku * diagnostické zobrazování genetika patologie MeSH
- syndrom mnohočetného hamartomu * genetika diagnostické zobrazování patologie MeSH
- Check Tag
- lidé středního věku MeSH
- lidé MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
- Názvy látek
- fosfohydroláza PTEN MeSH
- PTEN protein, human MeSH Prohlížeč
