Lafora disease

Laforarsquo; s disease is an autosomal recessive genetic disease. Occurs in late childhood and adolescence. First belonged to familial myoclonic epilepsy. According to autopsy data in 1911, Lafora found that the cytoplasm of nerve cells in the cerebral cortex, thalamus, substantia nigra, pale bulb and dentate nucleus contained basophilic inclusion bodies (Lafora bodies). New understanding of the disease. Localized seizures begin in half of the patients, so they are usually diagnosed with generalized epilepsy in the early stages. Sometimes, before myoclonus and seizures occur, the patient has visual hallucinations or appears irritable, erratic, Sexual cognitive decline. Most patients struggle to survive to the age of 25. The patient's EEG showed diffuse slow wave and focal or multifocal spike discharge. The disease must be diagnosed by neuropathology. Lafora bodies are round in the cytoplasm of nerve cells with a diameter of 3 to 30 micrometers. The positive reactions of PAS and Alcian blue staining are positive. Electron microscopy is helpful to confirm the diagnosis.

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