Two illustrative cases of adult Lhermitte-Duclos disease and a systematic review of literature related to surgical management

Abstract

Background: Lhermitte-Duclos disease is a rare subtype of gangliocytoma, a benign tumor growth in the cerebellum often associated with Cowden syndrome, a sporadic genetic pleomorphic disorder that is inherited in an autosomal dominant manner and caused by a harmful mutation in the PTEN gene. Such a mutation can originate malignant and benign tumors, including dysplastic gangliocytoma of the posterior cranial fossa.

Methods: We present two illustrative cases of Lhermitte-Duclos disease that we encountered and surgically treated during the last few years. We also performed a systematic literature review concerned with the surgical management of Lhermitte-Duclos disease and Cowden syndrome.

Results: Both patients were young females complaining of occipital headaches and underwent brain MRIs that revealed unilateral discrete cerebellar atrophy and expansive lesions of the posterior cranial fossa with characteristic striate T-2 weighted hyperintensity resembling tiger fur. They were both successfully operated on due to the posterior fossa dysplastic gangliocytoma, which was histopathologically confirmed as Lhermitte-Duclos disease. In one patient, genetic testing confirmed a PTEN mutation characteristic for Cowden syndrome.

Conclusion: Early diagnosis, genetic testing, and close monitoring are obligatory to enhance the knowledge of Lhermitte-Duclos disease and its probable association with Cowden syndrome to decrease the risk of malignancy of other organs and organic systems. Surgical posterior fossa decompression is required at the onset of neurological symptoms to relieve the mass effect and provide tissue samples for further analysis, ensuring a favorable outcome.

Keywords: Cowden syndrome; Lhermitte-Duclos disease; Posterior fossa dysplastic gangliocytoma; Surgical management.

Fig. 1

Flowchart of the literature search.

Fig. 2

The cerebellar cortex was unilaterally altered left, with a characteristic striate, laminar tiger pattern easily noticeable on preoperative native T-2 weighted (a) MRI scan, as well as on coronal reformation (b), which was indicative of dysplastic cerebellar gangliocytoma. Immediate postoperative T-2 weighted axial MRI brain scan revealing partial tumor resection, resulting in the relief of the mass effect on the posterior fossa (c). A postoperative T-2 weighted axial MRI brain scan of the same patient performed 10 years after surgery revealing no signs of tumor relapse and disease progression.

Fig. 3

A preoperative T-2 weighted and FLAIR-wighted MRI scan in axial (a) and coronal (c) reformation revealed a characteristic striate, laminar tiger pattern lesion of cerebellar parenchyma in the right hemisphere and vermis area indicative of dysplastic cerebellar gangliocytoma (a-d). Compression of the fourth ventricle was also observed, leading to a slight lateral ventricular enlargement (c).

Fig. 4

Immediate postoperative T-2 and FLAIR-weighted MRI scans in axial reformation revealed a residue of the tumor process in the right cerebellar hemisphere and the mediocranial vermis (a, b). No further tumor recurrence was revealed on axial T-2 weighted MRI scans at a two-year checkup (c, d).