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Very rare congenital progressive myoclonic syndrome associated with seizures and severe mental deterioration. Fatal outcome in few years.

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

Very rare; more common in Turkey, India, and Iran.

Autosomal recessive; belongs to the myoclonic progressive familial epilepsy disorder. Gene located on 6q24.

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.

Clinical and from evidence of Lafora bodies on biopsy obtained from the axilla skin. The onset is reported during the second decade of life when grand mal seizures with rapidly progressive severe mental retardation occurs.

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 usual 2 to 10 years after onset. There is no specific treatment.

Evaluate neurologic status (age of onset, full history, clinical, CT/MRI will show cerebral atrophia). Make sure that the therapy for seizure control is continued until the day of surgery and anesthesia.

Careful intraoperative positioning is needed because of rigidity. Avoid central regional anesthesia (medullar blockade) because of the quadriparesis that is often observed.

Consider drug interactions between antiepileptic treatment and anesthetics drugs. For long surgical procedure, intravenous administration of anticonvulsant must be considered.

Juvenile Myoclonic Epilepsy (JME): Characterized by early onset of age and isolated myoclonic jerks that occur mostly in the morning and do not become major seizures. Familial history of epilepsy is frequent. It is often diagnosed during an electroencephalogram (EEG). This disorder is chronic but not progressive. It is inherited as an autosomal dominant trait manifested on gene 5q34-q35 and 2q22-q23. All individuals affected with this medical condition have normal intelligence.

Myoclonus Epilepsy of Unverricht and Lundborg (Progressive Myoclonus Epilepsy; Baltic Myoclonic Epilepsy): Syndrome characterized by myoclonic seizures in which the patient may experience more than one type of seizure activity, such as petit mal or grand mal. It is progressive, and the rate of progression may be slow or rapid depending on the underlying disease. Phenytoin and carbamazepine tend to worsen the myoclonic activities. It is inherited as an autosomal recessive trait manifested on gene 21q22.3. The incidence of this disease is particularly frequent in Finland, where is it is estimated ...

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