Lhermitte Duclos disease

Lhermitte Duclos disease

Lhermitte Duclos disease is a genetic pathology leading to the development of a slowly growing cerebellar tumor that can appear at any age of the patient. Diagnosis is based on brain studies (CT, MRI), neurological symptoms, and genetic studies. There is no specific treatment for Lermitt-Duclos disease, but timely surgical removal of the tumor can significantly prolong the life of the patient.

Causes of Lhermitte Duclos disease

The immediate cause of the Lhermitte Duclos disease is the mutation of the PTEN gene located on the 10th chromosome it encodes an enzyme called phosphatase, the substrate of which can be both proteins and lipids. The latter contain phosphates in the inositol ring, which are cleaved off by phosphatase. In this case, the so-called PI3K / AKT / mTOR-way of information transmission in the cell is blocked, which, in some cases, allows to bypass the process of apoptosis.

Symptoms of Lhermitte Duclos disease

Manifestations of the disease can occur at any age, the history of cases of finding the symptoms of Lhermitte Duclos disease in both early childhood and in elderly patients is described. However, most often the characteristic signs of the ganglioncytoma of the cerebellum are revealed by neurologists in adolescence or in the third decade of the patient’s life.

Treatment of Lhermitte Duclos disease

The specific treatment of¬†Lhermitte Duclos disease does not currently exist, but patients often undergo palliative surgery to remove the ganglioncytoma of the cerebellum. This is a technically complicated operation, since there is no clear boundary and a transition layer between normal tissues and a hamartoma. In addition, in some cases, the tumor can be located in the depth of the cerebellum, which makes it unavailable for complete removal. However, even partial resection of the ganglioncytoma can significantly alleviate the patient’s condition and prolong the life of the patient for several years. Other methods of combating tumors (for example, radiation therapy) with Lhermitte Duclos disease are most often ineffective.

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