Megalencephalic leukoencephalopathy with subcortical cysts

A rare genetic disorder affecting the brain

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Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare genetic disorder characterized by an enlarged brain (megalencephaly), leukoencephalopathy, and the presence of subcortical cysts. This condition primarily affects the central nervous system and is associated with a range of neurological symptoms.

Presentation

Individuals with MLC typically present with an abnormally large head size (macrocephaly) that is noticeable in infancy or early childhood. The condition is progressive, and affected individuals may develop motor skill difficulties, ataxia, and spasticity. Seizures are also common in individuals with MLC.

Pathophysiology

MLC is caused by mutations in the MLC1 or GLIALCAM genes. These genes are involved in the function of glial cells, which are crucial for maintaining the myelin sheath that insulates nerve fibers. The mutations lead to a disruption in the blood-brain barrier and the accumulation of fluid in the brain, resulting in the characteristic white matter changes and cyst formation.

Diagnosis

Diagnosis of MLC is based on clinical evaluation, magnetic resonance imaging (MRI) findings, and genetic testing. MRI typically reveals diffuse white matter abnormalities and the presence of subcortical cysts, particularly in the temporal lobes.

Management

There is currently no cure for MLC, and treatment is primarily supportive. Management focuses on controlling symptoms such as seizures and providing supportive therapies to improve quality of life. Physical therapy, occupational therapy, and speech therapy may be beneficial for affected individuals.

Prognosis

The prognosis for individuals with MLC varies. Some individuals may experience a relatively stable course, while others may have a more progressive decline in neurological function. Lifespan can be normal, but severe cases may lead to significant disability.

Genetics

MLC is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected. Carriers, who have only one copy of the mutation, typically do not show symptoms.

Epidemiology

MLC is a rare disorder, with a higher prevalence in certain populations, such as those of Indian or Roma descent. The exact incidence is unknown, but it is considered a rare condition worldwide.

Related pages

• Leukoencephalopathy
• Megalencephaly
• Genetic disorders
• Neurological disorders