Asuman Orhan Varoglu

Introduction: Cerebral venous thrombosis as the first manifestation of Behçet’s Syndrome (BS) is very rare. We describe a case of BS in which all four major cerebral venous sinuses, including the bilateral sigmoid sinuses, transverse sinuses, and superior sagittal sinuses, exhibited severe cerebral venous thrombosis. Case report: An 18-year-old man was brought to our hospital with a three-month-old, wide, throbbing headache in both hemispheres and double, blurred vision while looking to the right for the last week. Magnetic Resonance Imaging (MRI) showed extensive thrombosis involving the bilateral sigmoid sinuses, transverse sinuses, and superior sagittal sinus. Collagen tissue diseases and systemic thrombophilia were ruled out. The patient, who had a history of erythema nodosum and genital and oral aphthae, was evaluated as 3/6 (+) positive by the pathergy test, leading to the diagnosis of BS. Prednisolone 48 mg/day and azathioprine 2 × 50 mg/day were started, and the prednisolone dosage was lowered to be stopped in three to four months. For nine months, anticoagulant medicine was administered. Partial recanalization was seen on control MRI venography. Conclusions: It may be life-saving to consider Behçet syndrome as a differential diagnosis in patients with multiple cerebral venous thrombosis.

Purpose – This case report presents a patient with recurrent cerebellitis attacks cha­racterized by acute cerebellar diffusion restriction due to a PRRT2 gene mutation, who demonstrated complete recovery. Case report – A 21-year-old female patient was admitted to our hospital with imbalance, vomiting, dizziness, and speech disorder. Neurological examination showed bilateral abnormal cerebellar tests. Diffusion restriction was seen in the right cerebellar hemisphere, and hyperintensity was seen in the same regions on the T2-Flair MRI sequence. The viral panel, culture, and biochemistry of cerebrospinal fluid (CSF) examinations were all within normal ranges. We diagnosed the patient with acute cerebellitis. A three-month corticosteroid treatment regimen was initiated after the first episode, and subsequent relapses were managed similarly. The patient’s MRI results and clinical findings both fully improved. However, two more attacks were documented in the patient’s history like the other attacks. The patient experienced recurring episodes and has a history of infantile epilepsy. Whole exome sequencing revealed compound heterozygous pathogenic PRRT2 variants: he­terozygous c.649dupC (p. Arg217Profs*8) and a heterozygous 16p11.2 microdeletion encompassing PRRT2 gene. Conclusion – Biallelic pathogenic PRRT2 variants usually cause a severe phenotype compared to monoallelic variants. PRRT2 should be considered in cases of episodic movement disorders with reversible cerebellar diffusion restriction, as they may underlie recurring acute cerebellitis episodes. Longterm monitoring may be crucial for management.

Background: Numerous studies have examined the prognosis of patients with relapsing-remitting multiple sclerosis (RRMS). Purpose: To seek a relationship between the gray matter/white matter (GM/WM) volume ratio, clinical features, neurofilament light chain (NfL), and glial fibrillary acidic protein (GFAP) in RRMS. Material and Methods: A total of 61 patients aged 18–70 years with RRMS and 20 controls were included. Neurological examinations were noted at the first attack and last visit. Blood samples were taken in remission. Results: Patients’ WM volume was lower and the GM/WM volume ratio was larger than in the controls ( P < 0.001). Patients’ WM correlated with GM volume ( P < 0.001, r = 0.608). WM correlated with GM/WM volume ratio ( P < 0.001, r = −0.632). For NfL and GFAP, no difference was found between patients and controls. Patients’ NfL correlated with GFAP ( P < 0.001, r = 0.452). Age and disease duration were correlated with Gfap ( P < 0.001, r = 0.434; P < 0.002, r = 0.381). No correlation was found between NfL/GFAP levels and all volumetric measurements of patients. Higher Expanded Disability Status Scale (EDSS), lower GM and WM volumes, and greater GM/WM volume ratio were detected in patients with the first pyramidal findings ( P < 0.001). Conclusion: Patients’ NfL and GFAP levels were lower than in controls and did not correlate with all volumes. GFAP is more informative, particularly in patients of advanced age and those with longstanding diseases. Higher EDSS and decreased GM and WM volumes were seen in patients with pyramidal symptoms at the first attack.

Chorea-acanthocytosis (VPS13A disease) is a rare multisystem neurodegenerative disorder with a broad phenotypic spectrum. It is characterized by neuropsychiatric symptoms and the presence of acanthocytes. However, the relationship between acanthocytes and disease severity remains unclear. Diagnosis is established through genetic testing. We present two sisters with VPS13A disease, each exhibiting distinct clinical presentations. The younger presents with severe symptoms including drug-resistant epilepsy, neuropsychiatric issues, chorea, and self-mutilation, along with the presence of acanthocytes in her blood smear (10%). Genetic testing identified a homozygous synonymous mutation in the VPS13A gene (Chromosome 9: 79971783 G>C, exon 55, c.7806G>C, Pro2602=). Conversely, the older sister experiences only well controlled epileptic seizures and elevated creatine kinase levels, with no acanthocytes in peripheral blood smears, which have been performed three times. She also harbors the same homozygous synonymous mutation in the VPS13A gene. Our report highlights siblings with identical mutations but differing clinical presentations, emphasizing the variability in VPS13A disease manifestations. The younger sister has acanthocytosis and chorea, whereas the older did not demonstrate those features. The term “VPS13A disease” is proposed to encompass this group of diseases, acknowledging that acanthocytes or chorea may not always be present. Our findings support this terminological shift. Additionally, we first mentioned this synonymous mutation (NM_033305.3: c.7806G>C exon 55, p. Pro2602=) in the VPS13A gene, contributing to the understanding of this condition.

Background: The most compact portion of the corpus callosum (CC) is the corpus splenium (CS). Purpose: To evaluate the connection between clinical and demographic features to determine whether neuroimaging findings will be permanent or temporary in CS patients. Material and Methods: We enrolled 93 patients (age range = 18–86 years) with CS lesions. Demographic and clinical information were recorded. We examined the lesions depending on the location. Group 1 (n = 20) had lesions limited to the CS (egg-shaped or round); group 2 (n = 15) had “boomerang sign” lesions; and group 3 (n = 58) had splenium involvement in conditions affecting the whole brain (Boomerang sign+ plus). Results: Group 1 had a lower mean age, shorter disease duration, and fewer persistent lesions than others ( P < 0.01, P < 0.001, and P < 0.001, respectively). The mean disease onset age (in years) in group 1 was higher than that of the other groups ( P < 0.045). Group 2 had lower potassium (K) ( P < 0.003) and red cell distribution width levels ( P < 0.029) than the other groups. Age <41.5 years ( P < 0.001), age at illness initiation <48.5 years ( P < 0.002), disease duration <5.5 months ( P < 0.001), and eosinophil level <0.29 uL ( P 0.014) all point to temporary lesions. Conclusion: Cases with limited CS lesions have younger onset ages, lower disease onset ages, and shorter disease durations. Age, age of disease onset, disease duration, and eosinophil level are risk variables that affect whether CS lesions are permanent or temporary.

Objective: To explore the clinical significance of interleukin-1 and interleukin-6 in the development of lateralized temporal epilepsy. Method: The prospective study was conducted from January to April of 2022 at the Neurology Department of Training and Research Hospital, Istanbul Medeniyet University, Turkey, and comprised patients with lateralized temporal epilepsy aged 18-86 years who were in the interictal period in group A and healthy controls in group B. The levels of interleukin-1 and interleukin-6 of patients in both groups were compared. Data was analysed using SPSS 25. Results: Of the 92 subjects, 60(65.2%) were in group A; 35(58.3%) were males and 25(41.7%) were females with a median age of 37.5 years (interquartile range: 2.2-42.7 years). There were 32(34.8%) subjects in group B; 19(40.6%) females and 13(40.6%) males with a median age of 40.5 years (interquartile range: 25-50 years) (p>0.05). Within group A, 41(68.3%) patients had left-sided epilepsy and 19(31.7%) had right-sided epilepsy (p<0.001). Both interleukin-1 and interleukin-6 levels were lower in group A than in group B (p<0.001). Both interleukin levels did not significantly differ between right and left-lateralised temporal seizures (p=0.44). In the left-lateralized temporal seizures, interleukin-1 levels correlated with epilepsy duration (p<0.006), lower onset age (p<0.050), and presence of prenatal risk (p<0.028). Interleukin-1 and interleukin-6 levels were positively correlated with each other for lateralized temporal epileptic hemispheres (p<0.001). Conclusion: Interleukin-1 level was correlated with epilepsy duration, lower onset age, and presence of prenatal risk in the left-lateralized temporal epilepsy. Key Words: Focal epilepsy, Partial epilepsy, Lateralisation, Prognosis, Interleukin-1, Interleukin-6, Cytokine.

We describe two cases with recurrent demyelinating attacks following BioNTech BNT162b2 immunization. No reports of any recurring demyelinating attack cases connected to COVID-19 immunization. Case-1: A 37-year-old male patient was admitted due to diplopia and ptosis. Neurological examination showed isolated oculomotor cranial paralysis on the right side. The second dose of BNT162b2 was given 10 days ago. On T2- and fluid-attenuated inversion recovery (FLAIR)-weighted magnetic resonance imaging (MRI), hyperintense lesions were seen in the pons on T1, with no evidence of contrast enhancement. We diagnosed the patient with central pontine myelinolysis associated with BNT162b2. Six months later after the first attack, a new lesion appeared in the same region. Case-2: He applied to the hospital at the age of 57 years, complaining of numbness in his hands and feet, confusion, and cooperation disorder. During the neurological assessment, apathy, cooperation, and orienting disorders were found. Hyperintense lesions were seen in both hemispheres, with cortico-subcortical localization on MRI. The patient received the BNT162b2 two weeks ago. After the initial attack six months ago, new clinical signs and an increase in demyelinating lesions were found. Despite early corticosteroid treatment, BNT162b2 immunization may be associated with repeated demyelination attacks. In patients with diffusion restriction on MRI, we might suggest using corticosteroid therapy for approximately one year, a lot longer than the literatures suggested.