Lafora disease
Lafora’s disease is an autosomal recessive hereditary disease. It is prone to occur in late childhood and adolescence. It was originally a familial myoclonic epilepsy. In 1911, Lafora found, based on autopsy data, that basophilic inclusions (Lafora bodies) were present in the cytoplasm of nerve cells in the cerebral cortex, thalamus, substantia nigra, globus pallidus, and dentate nucleus of patients. Since then, a new understanding of this disease has been gained. Half of the patients with this disease begin with local convulsions, so they are often diagnosed as common epilepsy in the early stages. Sometimes, before the onset of myoclonus and epileptic seizures, patients have visual hallucinations or show irritability, eccentric temper, and progressive cognitive decline. Most patients have difficulty surviving to the age of 25. The patient’s electroencephalogram shows diffuse slow waves and focal or multifocal spike-wave discharges. The disease must be diagnosed based on neuropathology. Lafora bodies are round in the cytoplasm of nerve cells, with a diameter of 3 to 30 µm. They are positive for PAS and Alcian blue staining. Electron microscopy observation can help confirm the diagnosis.