Some examples of medications include valproate, levetiracetam, topiramate, benzodiazepines, or perampanel. Although the symptoms and seizures can be controlled for a long period by using anti-epileptic drugs, the symptoms will progress and patients lose their ability to perform daily activities leading to the survival rate of approximately 10 years after symptoms begin. Quality of life worsens as the years go on, with some patients requiring a feeding tube so that they can get the nutrition and medication they need in order to keep living, but not necessarily functioning. Recently Metformin is approved for the treatment. Due to the severity of Laforas disease being exceedingly rare, it is recommended to contact a specialist, such as one specialized in genetics, as well as looking into universities and other medical centers around because they will have the most up to date technology. Research
The disease is named after Gonzalo Rodríguez Lafora (1886–1971), a Spanish neuropathologist who first recognized small inclusion bodies in Lafora patients. Since the discovery of Lafora Disease in early to mid 1900s there has not been too much research into it, until more recent years. An approach to studying this rare disease would be performing a case-control study. This is done by following a group of people to accrue person years to evaluate historical associated factors. These historical factors can then help researchers deduce new cases and consider the discrepancies of various risk factors. This leads to potentially faster recognition of exposures when there are outbreaks of the disease.
A biopsy of the retina and choroid layer may be performed. In affected liver, biopsy shows focal areas of necrosis and sinusoidal widening. H&E staining show extracellular frothy pink material. Typical cysts with a solid dark dot can be seen using a Grocott silver stain. Differential diagnosis
Pneumocystosis may appear similar to pulmonary embolism or adult respiratory distress syndrome. Other infections can present similarly such as tuberculosis, Legionella, and severe flu. Prevention
There is no vaccine that prevents pneumocystosis. Trimethoprim/sulfamethoxazole (co-trimoxazole) might be prescribed for people at high risk. Treatment
Treatment is usually with co-trimoxazole. Other options include pentamidine, dapsone and atovaquone. Outcomes
It is fatal in 10-20% of people with HIV/AIDS. Pneumocystosis in people without HIV/AIDS is frequently diagnosed late and the death rate is therefore higher; 30-50%. Epidemiology
The exact number of people in the world affected is not known. Pneumocystosis affects lungs in around 97% of cases and is often fatal without treatment. History
The first cases of pneumocystosis affecting lungs were described in premature infants in Europe following the Second World War. It was then known as plasma cellular interstitial pneumonitis of the newborn.Pneumocystis jirovecii (previously called Pneumocystis carinii) is named for Otto Jírovec, who first described it in 1952. == References ==