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
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 ...