Familial hyperinsulinaemic hypoglycaemia with epileptic syndrome, cognitive impairment and detected mutation of the ABCC 8 (SUR1) gene: a case report

Hyperinsulinaemic hypoglycaemia (HH) occurs as a consequence of unregulated insulin secretion from pancreatic beta cells. It is the most common cause of severe and prolonged hypoglycemia in newborns. HH is a major risk factor for brain damage and subsequent neurological disability, which is why the identification, rapid diagnosis, and timely treatment of patients with HH are essential for the prevention of brain damage. The present case gives a brief description of a patient with congenital HH with an established mutation in the ABCC8 gene encoding the SUR1 subunit of the K-ATP channel. The genealogical tree, the clinical picture, the diagnostic cascade, the neurological consequences and their development in dynamics are considered, with special emphasis on the epileptic syndrome and mental status. Advances in molecular genetics, radiological imaging techniques, conservative treatment, or laparoscopic surgery may completely change the clinical approach to children with severe congenital forms of HH.

Problems of Social Rights Enjoyment by Persons Diagnosed with Epilepsy: Legal Aspect

Epilepsy is a disease that creates many problems for people with such a diagnosis in the enjoyment of their social rights. Despite the existing regulatory legal acts governing the protection of health and the social rights enjoyment by citizens with epilepsy, there are many questions on this topic both regarding accessibility of these norms to people with epilepsy and in terms of compliance of the current legislation with the norms of the Constitution of the Russian Federation. In this article, we tried to reflect the basic norms of the current legislation in the Russian Federation governing the provision of medical care to people with epilepsy, providing them with free medications, admission of patients with epilepsy and epileptic syndrome to various types of work, education, military service, possession of weapons, driving, and pay attention to the problems of people diagnosed with epilepsy.

The relationship of sleep mechanisms and epileptogenesis

Close links between epilepsy and sleep is doubtless; however, the available literature does not allow for its unequivocal interpretation from the common pathophysiological mechanisms' perspective. GABAergic neuronal deficiency is believed to be the neurochemical background of the intimate mechanisms of sleep and epileptogenesis. Sleep impacts the epileptiform activity, with an increase in epileptiform discharge during NREM and a decrease during REM phases. Sleep deprivation may complicate the course of epilepsy, while epileptic attacks may change the sleep structure and quality. Anti-epileptic agents exert diverse effects on the sleep architectonics; they can induce sedation or increase alertness. Our potential to correct the results of the pathological interplay between sleep mechanisms and epilepsy are rather limited and are frequently overestimated by clinicians. Investigation of the interrelationship between epileptic seizures and sleep and the use of polysomnography can substantially add to the diagnosis of the epileptic syndrome and define the subsequent outcomes.