GNB1 Encephalopathy: Clinical Case Report and Literature Review.

GNB1 encephalopathy is a rare genetic disease caused by pathogenic variants in the G Protein Subunit Beta 1 (GNB1) gene, with only around 68 cases documented worldwide. Although most cases had been caused by de novo germline mutations, in this case, the pathogenic variant was inherited from patient's mother, indicating an autosomal dominant inheritance pattern. The patient presented at 25 years of age with mild developmental delay and cognitive impairment, prominent generalized dystonia, and horizontal nystagmus which are all characterizing symptoms of GNB1 encephalopathy. Electroencephalography (EEG) showed no epileptiform patterns, and magnetic resonance imaging (MRI) revealed hypointensities in globus pallidus and dentate nucleus areas. The main theory for GNB1 encephalopathy pathogenesis is neuronal hyperexcitability caused by impaired ion channel regulation. Due to low specificity of symptoms, diagnosis relies on genetic testing. As there are no standardized GNB1 encephalopathy treatment guidelines, evaluation of different treatment options is based on anecdotal cases. Reviewing different treatment options, deep brain stimulation and intrathecal baclofen pump, as well as some other medications still in preclinical trials, seem to be the most promising.

Oxcarbazepine and Hyponatremia.

Background and Objectives: Hyponatremia is one of the most common adverse effects in patients treated with oxcarbazepine (OXC). Different risk factors for OXC-induced hyponatremia have been described as age, female gender, dosage, and combination with other drugs During our clinical practice, we noticed that a longer duration of treatment with OXC could be associated with a higher risk of hyponatremia, therefore, in this study, we aimed to evaluate factors that may increase the risk of OXC-induced hyponatremia. Materials and Methods: Data were retrospectively collected from our clinical database at the Department of Neurology of the Hospital of Lithuanian University of Health Sciences Kaunas Clinics. The sample was divided into three groups: OXC consumers (n = 31), other anti-seizure medications (ASMs) consumers (n = 43), and controls absent ASMs (n = 31). All groups were matched by age and gender. Hyponatremia was defined as <136 mmol/L. Results: The frequency of hyponatremia was significantly higher among OXC patients (61.3%) compared to other ASM patients (5.4%) and controls (3.2%). The mean serum sodium concentration in the OXC group was 133.1 ± 5.1 mmol/L. The frequency of severe hyponatremia among OXC-treated patients was 19.4%; this subgroup was older than patients with moderate hyponatremia and normonatremia and had a longer OXC treatment duration compared to a subgroup of normonatremia. The average duration of OXC therapy was 8.7 ± 5.5 years with a range from 1 to 21 years. Serum sodium concentration and duration of treatment with OXC demonstrated a significant negative correlation (r = −0,427, p = 0.017). Each year of therapy with OXC increased the risk of hyponatremia 1.3 times (OR = 1.326, 95% Cl 1.027−1.712, p = 0.031). Other factors (gender, age, polypharmacy, OXC dosage, and serum concentration) did not show a significant association with the development of hyponatremia. Conclusions: Longer duration of treatment with OXC is an important factor in the development and severity of hyponatremia.

Creutzfeldt-Jakob disease with neuroleptic malignant syndrome.

Creutzfeldt­Jakob disease (CJD) is a rare rapidly progressive fatal neurodegenerative disease. Neuroleptic malignant syndrome (NMS) is a complication of antipsychotic medications which may be used to treat neuropsychiatric symptoms of CJD. We present a case of a 51­year­ old woman with CJD who developed NMS after being prescribed quetiapine.

Primary Headaches and Sleep Disturbances: A Cause or a Consequence?

AIMS: To evaluate the possible relationship between sleep disturbances and primary headaches. METHODS: This prospective study was carried out in a random group of patients with active primary headaches (case group) and a control group. Patients with active primary headaches were further stratified into two groups: patients with migraine and patients with tension-type headache (TTH). Participants were questioned using the following standardized tests: Insomnia Severity Index (ISI), Pittsburgh Sleep Quality Index (PSQI), Epworth Sleepiness Scale (ESS), Berlin Sleep Apnea Questionnaire (BSAQ), and a custom-made headache questionnaire. The results of the questionnaires were compared among patients with TTH, patients with migraine, and age- and sex-matched controls. RESULTS: Of the 143 participants, 22.4% had TTH, 30.8% were diagnosed with migraine, and 46.9% did not have a diagnosed headache disorder. Patients with TTH were more likely to have insomnia (ISI score > 7) than patients with migraine (75% vs 50%, respectively) or controls (75% vs 37.3%, respectively) (P = .002). Frequency of poor sleep quality (global PSQI score ≥ 6) was significantly highest in the TTH group (87.5%), while the migraine and control groups had better sleep quality (47.7% and 43.3%, respectively) (P = .0001). TTH patients were more likely to have insufficient sleep (sleep efficiency < 85%) (53.1%) than those with migraine (25%) or the control group (29.9%) (P = .025). CONCLUSION: Patients who suffered from TTH were more likely to have insomnia than patients with migraine or controls. Nearly all patients with TTH had poor sleep quality, which was also observed in approximately half of the individuals in the migraine and control groups. Three-quarters of patients in the TTH group and more than half in the migraine group indicated inadequate sleep as a trigger factor for headache.