Dysplastic ganglion cell tumor of the right cerebellum: A case report and literature review

Abstract

Rationale: This study aims to present a case of cerebellar dysplastic ganglioneuroma, which is commonly referred to as Lhermitte-Duclos disease (LDD). Furthermore, the study aims to provide an extensive review of the essential aspects of LDD, thereby providing essential information for its accurate diagnosis and effective treatment.

Patient concerns: A 54-year-old woman was admitted with symptoms of headache, facial numbness, and a visible cerebellar mass. Imaging studies revealed specific features such as the "tiger stripe sign" on magnetic resonance imaging, including hydrocephalus compression and abnormal vasculature.

Diagnoses: The diagnosis of LDD was made.

Interventions: The cerebellar mass was resected via a paracentral approach.

Outcomes: The patient underwent surgery for a cerebellar dysplastic ganglion cell tumor (WHO grade I), confirmed by postoperative pathology. Despite sub-complete resection with minor residuals, the patient experienced significant improvement in symptoms. A postoperative computed tomography scan revealed a large cavity with frontal lobe hemorrhage. PTEN gene testing was recommended but declined due to financial constraints. The patient was discharged without complications.

Lessons: LDD presents both benign and tumor characteristics, with a low likelihood of malignancy. Total resection is the recommended treatment, although challenges in complete excision may lead to recurrence. The importance of considering Cowden syndrome and genetic testing, particularly the PTEN gene, in patients with LDD, is emphasized. Long-term follow-up care is crucial for monitoring recurrence and related conditions.

Figure 1.

The typical imaging findings of Lhermitte–Duclos disease and the performance of laryngoscopy. The lesion exhibits striped iso-hyperdensity on unenhanced CT (A), shows low intensity on T1-weighted imaging (C), iso-hyperintensity on T2-weighted imaging (D), and reveals a tiger-striped lesion in the right cerebellar hemisphere (F). There was no apparent enhancement on contrast-enhanced T1-weighted imaging. (A, B, and E) The involvement of the corpus callosum, cerebellar vermis, and the posterior part of the pons is observed, with compression of the third and fourth ventricles. Perfusion-weighted imaging (G) and magnetic resonance spectroscopy (H) were also performed. Laryngoscopy indicates a wart-like fatty organism (I). CT = computed tomography.

Figure 2.

HE staining and immunohistochemical staining images.

Figure 3.

Postoperative CT (A) and MRI (B). CT = computed tomography, MRI = magnetic resonance imaging.