Skip to Main Content

At a glance

It is a very rare congenital neurodegenerative and progressive myoclonic syndrome associated with seizures and severe mental deterioration. It is characterized by the presence of intracellular inclusions bodies, Lafora bodies, in the cell of the heart, liver, muscle, and skin. Patients develop the first clinical signs during adolescence and they consist of severe seizures, syncope, myoclonus, ataxia, and, rapid development of dementia. The life expectancy of all individuals affected with Lafora disease (LD) is the age of 25, but death usually happen within 10 years of the onset of symptoms. At present, there is no cure or treatment for this disease.

Synonyms

Myoclonus Epilepsy of Lafora (MELF); Progressive Myoclonus Epilepsy (EPM II).

History

This medical condition was first described by Dr Gonzalo Rodríguez Lafora (1886-1971), a Spanish neurologist, who discovered intracytoplasmic inclusion bodies in 1911 and named it “Lafora’s disease.” Dr Lafora was academically prolific as he published approximately 200 papers in neurology, psychiatry, and neuropathology. Throughout his intellectual endeavors, Dr Lafora received much respect from his colleagues as a man of intellectual intensity and devotion to scientific honesty.

Incidence

The exact incidence remains unknown. It is a very rare disorder more common in Turkey, India, and Iran.

Genetic inheritance

It is inherited as an autosomal recessive trait. It is caused by mutations in one of three well-described genes EPM2A, EPM2B, and NHLRC1. It belongs to the myoclonic progressive familial epilepsy disorder. The gene is located on 6q24.

Pathophysiology

Enzyme defect leads to deposition of polyglucosans near their site of synthesis in the agranular endoplasmic reticulum. Lafora bodies are found within the eccrine sweat gland ducts on skin biopsy. They are periodic acid–Schiff (PAS)-positive inclusions. In biopsy performed in the central nervous system, Lafora bodies are typically found in the substantia nigra, superior olive dentate nucleus, globus pallidus, and sensorimotor cortex. Intracellular Lafora bodies suggest amyloid in brain, heart, and liver.

Diagnosis

Clinical and from evidence of Lafora bodies on biopsy obtained from the axilla skin. The onset is reported during the second decade of life (adolescence) and usually present with grand mal seizures associated with a rapid dramatic development of dementia (severe mental retardation).

Clinical aspects

Principal features involve the neurologic function. Myoclonic seizures (worse with stress or preceding a generalized seizure) and tonic-clonic seizures (associated with photosensitivity and complex visual aura) tend to be progressive. Mental deterioration, psychosis, and dementia appear within months of onset. Other neurologic signs can include dysarthria, increased deep tendon reflexes, rigidity, hypotonia, and quadriplegia. Fatal outcome is usually 2 to 10 years after onset. There is no specific treatment.

Precautions before anesthesia

Evaluate neurologic status (age of ...

Pop-up div Successfully Displayed

This div only appears when the trigger link is hovered over. Otherwise it is hidden from view.