[Epilepsy and other phenotypic features of X-linked intellectual disability caused by the mutations in the KIAA2022 gene]. / Epilepsiya i drugie fenotipicheskie osobennosti X-stseplennoi intellektual'noi nedostatochnosti, obuslovlennoi mutatsiyami gena KIAA2022.

OBJECTIVE: To study the literature data and a series of our cases regarding the epilepsy clinic, electroencephalographic changes and other phenotypic features in X-linked intellectual disability (ID) caused by KIAA2022 mutations. MATERIAL AND METHODS: We analyzed the anamnesis of the disease, using medical records from different Russian medical organizations, as well as the results of the genealogical anamnesis, clinical, genetic, electroencephalographic (EEG) and neuroimaging (brain MRI ) examinations of 7 patients (5 girls and 2 boys aged 5 to 13 years) with a confirmed diagnosis of X-linked ID caused by KIAA2022 mutations, in whom the clinical picture of the underlying disease was combined with epilepsy. RESULTS: The main common phenotypic features of patients with X-linked ID caused by the KIAA2022 mutations are mental retardation, lack of phrasal speech, motor developmental delay, and dysmorphism. The prominent epilepsy characteristics are myoclonic, atonic seizures with nods, flinches, body propulsions, atypical absences, and diffuse discharges «spike-polyspike-slow wave¼ on the EEG. No pathognomonic brain changes were found on MRI. In many cases, the absence of the effect of antiepileptic therapy was noted. CONCLUSION: The described cases of X-linked ID in combination with epilepsy show that this disease can be seen in males as well as in females, epilepsy is rather characterized by generalized seizures, and it is pharmacoresistant in many cases. There is a need for further research on this rare genetic syndrome.

[Vasovagal syncope or epilepsy: how to avoid errors in diagnosis].

Transitory loss of consciousness might have multiple mechanisms of development among which vasovagal syncope and epilepsy have the greatest significance. It is thought that in every forth patient the initial diagnosis is erroneous because of similarity of clinical picture and even well prepared specialists are not secured against mistakes. Aim of this review is to stress key points of diagnosis from the point of view of a cardiologist and epileptologist.

[Clinical features and history of vasovagal syncope].

Aim of this investigation was to study special characteristics of natural course of vasovagal syncope (VVS). During 3 years we examined 212 patients (44% men) in accordance with recommendations of European Society of Cardiology using tilt tests according to Westminster or Italian protocols for confirmation of vasovagal genesis. Depending on results of initial investigation patients were divided into 2 groups: group 1 comprised 144 patients (68%) satisfying criteria of VVS; group 2 comprised other patients (n=41, 19%) with transitory loss of consciousness of unclear origin. Patients with VVS were significantly younger (mean age 35.1+/-13.6 and 44.4+/-13.,9 years, respectively; <0.01) with earlier appearance of first episode of fainting (16 vs. 39 years; <0,01). In most cases VVS appeared in the age younger than 35 years. Accuracy of anamnestic method for diagnosis of VVS was 99%. Forty one percent of patients with classical VVS had several potential causes of fainting (situational syncope, paroxysms of tachyarrhythmia, epilepcy). This could lead to mistakes at initial stage of diagnostics. Progressive clinical course was observed in 15% of patients and was associated either with syncopi of other, including nonvagal origin, or with increased frequency of previously stereotypical attacks. In every second patient with initially frequent recurrences of VVS we observed long spontaneous remissions. Nondrug methods of treatment were effective in 43% of these patients. Tilt test had high informative power for diagnostics of VVS. With this its informativity was low in patients with onset of fainting attacks in middle age and with atypical clinical picture.