Lhermitte–Duclos disease

Dysplastic cerebellar gangliocytoma

Lhermitte–Duclos disease (LDD), also known as dysplastic gangliocytoma of the cerebellum, is a rare, slow-growing brain tumor that typically affects the cerebellum. It is characterized by an overgrowth of the ganglion cells in the cerebellar cortex, leading to a distinctive appearance on magnetic resonance imaging (MRI) scans.

Presentation

Patients with Lhermitte–Duclos disease often present with symptoms related to increased intracranial pressure due to the mass effect of the tumor. Common symptoms include headache, nausea, vomiting, ataxia, and visual disturbances. In some cases, patients may also experience seizures.

Pathophysiology

The exact cause of Lhermitte–Duclos disease is not well understood. However, it is believed to be associated with mutations in the PTEN gene, which is also implicated in Cowden syndrome. The overgrowth of ganglion cells leads to the characteristic thickening of the cerebellar folia, which can be observed on MRI as a "tiger-striped" pattern.

Diagnosis

Diagnosis of Lhermitte–Duclos disease is primarily based on imaging studies. MRI is the preferred modality, as it can reveal the distinctive striated appearance of the cerebellar cortex. Computed tomography (CT) scans may also be used, but they are less specific. A definitive diagnosis may require a biopsy to confirm the presence of dysplastic ganglion cells.

Treatment

Treatment options for Lhermitte–Duclos disease vary depending on the size and location of the tumor, as well as the severity of symptoms. Surgical resection is often the treatment of choice, especially in cases where the tumor is causing significant mass effect or symptoms. In some cases, radiotherapy or chemotherapy may be considered, although their effectiveness is less well established.

Prognosis

The prognosis for patients with Lhermitte–Duclos disease is generally favorable, especially if the tumor can be surgically resected. However, the risk of recurrence exists, and long-term follow-up with regular imaging studies is recommended.

Related Conditions

Lhermitte–Duclos disease is often associated with Cowden syndrome, a genetic disorder characterized by multiple noncancerous, tumor-like growths called hamartomas. Patients with Cowden syndrome have an increased risk of developing various types of cancer, including breast cancer, thyroid cancer, and endometrial cancer.

See Also

• Cerebellum
• Cowden syndrome
• PTEN gene
• Magnetic resonance imaging
• Ataxia
• Seizures