Ketogenic diet applied to myoclonic status epilepticus in progressive myoclonic epilepsy

Case presentation: Man, 26 years old, son of consanguineous parents with no family history of genetic or epileptic diseases. Asymptomatic until the age of 14, when his school performance declined. At the age of 18, he presented startle with myoclonic jerks, falls from his own height, difficulty walking and his first generalized seizure. Subsequently, despite the use of anticonvulsants, he progressed with generalized myoclonic tremors, dysarthria and decreased strength in the upper and lower limbs. Within a few years he was bedridden due to severe ataxia. The neurological examination showed: paratonia, sialorrhea, sardonic smile, presence of dystonic tremor of the four limbs, facial dystonia, moderate cognitive dysfunction (difficulty understanding), grade II general muscle strength. Computed tomography and magnetic resonance imaging were normal. The EEG: revealed bitemporal irritative activity independent of Sherriton. The genetic test was not available to define hypotheses, but neurological signs and clinical history corroborate the diagnosis of progressive myoclonic epilepsy. During hospitalization for pneumonia, the patient developed myoclonic status epilepticus and maintained the condition even after optimization of topiramate, valproic acid, levetiracetam, clobazam, cannabidiol and an infusion pump with ketamine and midazolam. Therefore, it was decided to introduce a ketogenic diet via a nasoenteral tube, showing an express response in the following days with the possibility of gradual withdrawal of sedatives and continuation of anticonvulsant drugs. Discussion: Progressive myoclonic epilepsy (PME) is a rare and heterogeneous group of epileptic syndromes characterized by myoclonus, instability, muscular instability, intellectual disability and epileptic seizures. PMEs are often caused by genetic changes, including genes such as PME1 and PME2. Clinically, PME is characterized by onset in childhood or adolescence with myoclonus and seizures, followed by progressive cognitive and motor decline. The diagnosis of PME requires a multidisciplinary approach, integrating clinical history, genetic and histological tests. Its treatment is based on symptoms control, but does not change the progression of the disease. The ketogenic diet (KD) is a diet rich in fat and low in carbohydrates, which induces a state of metabolic ketosis. Studies suggest that ketosis can stabilize neuronal excitability, reduce seizure frequency and, specifically for PME, decrease the severity of myoclonus. The relevance of KD in PME is particularly notable given the limitations of traditional anticonvulsants in controlling seizures in this population. Furthermore, KD may offer neuroprotective benefits by slowing the progression of neurological extension associated with PME. Final comments: In this report, we describe a case that was sucessful in controlling seizures using a ketogenic diet, which can be used as a basis for other studies and as a therapeutic tool for similar cases