Perinatal Hypoxic-hypoglycemic Injury and Epilepsy: A Comprehensive Analysis of Clinical and Laboratory Data in Adults.

Perinatal hypoxia and/or hypoglycemia (PHH) is a serious condition leading to many neonatal deaths worldwide. It causes motor and cognitive deficits, visual disturbances, and seizures in survivors. There is limited information on the clinical course of seizures, EEG and MRI findings in adults.

Many Faces of Diencephalic-Mesencephalic Junction Dysplasia Syndrome with and Variants.

Introduction: Diencephalic-mesencephalic junction dysplasia syndrome is a rare neurogenetic disorder reported to be caused by variants in several genes. Phenotypic presentation is characterized by clinical findings including developmental delay, hypotonia, spasticity, and dyskinetic movements in combination with distinctive imaging features on brain magnetic resonance imaging (MRI).

Methods: Whole exome sequencing was conducted to unveil the molecular etiology of patients presenting with neurological manifestations from two unrelated families.

Horizontal gaze palsy with progressive scoliosis: Further expanding the ROBO3 spectrum.

Objective: Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare, autosomal recessive disorder resulting from axonal midline crossing defect due to variants in ROBO3.

Methods: We retrospectively evaluated demographics, clinical phenotype, course of spinal deformities, and neuroimaging findings of six Turkish patients with HGPPS. We performed targeted gene testing by next-generation sequencing.

Exploring metabolic alterations in PYCR2 deficiency: Unveiling pathways and clinical presentations of hypomyelinating leukodystrophy 10.

Proline-5-carboxylate reductase 2, encoded by PYCR2 gene, is an enzyme that catalyzes the last step of proline synthesis from pyrroline-5-carboxylate synthetase to proline. PYCR2 gene defect causes hypomyelinating leukodystrophy 10. Up until now, to our knowledge around 38 patients with PYCR2 defect have been reported.

Electro-clinical features and long-term outcomes in guanidinoacetate methyltransferase (GAMT) deficiency.

Objective: To evaluate clinical characteristics and long-term outcomes in patients with guanidinoacetate methyltransferase (GAMT) deficiency with a special emphasis on seizures and electroencephalography (EEG) findings.

Methods: We retrospectively analyzed the clinical and molecular characteristics, seizure types, EEG findings, neuroimaging features, clinical severity scores, and treatment outcomes in six patients diagnosed with GAMT deficiency.

Results: Median age at presentation and diagnosis were 11.

Delineation of ADPRHL2 Variants: Report of Two New Patients with Review of the Literature.

is involved in posttranslational modification and is known to have a role in physiological functions such as cell signaling, DNA repair, gene control, cell death, and response to stress. Recently, a group of neurological disorders due to variants is described, characterized by childhood-onset, stress-induced variable movement disorders, neuropathy, seizures, and neurodegenerative course. We present the diagnostic pathway of two pediatric patients with episodic dystonia and ataxia, who later had a neurodegenerative course complicated by central hypoventilation syndrome due to the same homozygous variant.

Imaging Features of Pediatric Sarcoidosis.

Sarcoidosis is a granulomatous inflammatory disease of uncertain cause. It occurs most commonly in young and middle-aged adults and less frequently in children; therefore, few data on pediatric sarcoidosis exist in the literature. The diagnosis and management of sarcoidosis remain challenging because of diverse and often nonspecific clinical and imaging findings.

Do cervical stabilization exercises change the effects of conventional exercises in patients with Parkinson's disease?

Objectives: The aim of this study was to examine whether cervical stabilization exercises (CSEs) change the effects of conventional exercises (CEs) in patients with PD.

Methods: Twenty-five patients with PD were randomized into two groups. While the experimental group (EG) received CSEs in addition to CEs, the control group (CG) received only CEs.

IgG4-related pachymeningitis-Long term follow up and outcome of six patients.

Objective: Our understanding of IgG4-RD and pachymeningitis has grown substantially, but the optimal approach for diagnosis, management, and long-term outcomes is still an area of uncertainty.

Methods: HUVAC is a database for IgG4-RD patients, this database was retrospectively evaluated for pachymeningeal disease. Demographic, clinical, serological, imaging, histopathological data, and treatment details were re-interpreted in patients with pachymeningitis.

Carotid Artery Perivascular Adipose Tissue Density and Response to Intravenous Tissue Plasminogen Activator in Acute Ischemic Stroke.

The importance of Carotid Artery Perivascular Adipose Tissue Density (CAPATd), a parameter that can be readily evaluated on emergency computed tomographic angiography (CTA), in acute stroke has not been adequately clarified. We created exploratory logistic regression models to detect the interaction between the effect of CAPATd and intravenous (IV) tissue plasminogen activator (tPA) in 174 patients (mean age 71 ± 14 years, 94 women) with acute ischemic stroke treated with IV-tPA alone. The CAPATd-average mean (-60.

Intracerebral de novo arterio-venous malformations as a side effect of bevacizumab.

Introduction: Bevacizumab is a monoclonal antibody for the vascular endothelial growth factor receptor and is utilized in the treatment of various tumors. Gastrointestinal perforation/fistula, heart failure, hemorrhage, hypertension, proteinuria/nephrotic syndrome, thromboembolism, posterior reversible encephalopathy syndrome, and necrotizing fasciitis are serious side effects of bevacizumab. Bevacizumab associated de novo brain arterio-venous malformation formation has not been documented in the literature.

Clinical and Osteopetrosis-Like Radiological Findings in Patients with Leukocyte Adhesion Deficiency Type III.

Background: Leukocyte and platelet integrin function defects are present in leukocyte adhesion deficiency type III (LAD-III) due to mutations in FERMT3. Additionally, osteoclast/osteoblast dysfunction develops in LAD-III.

Aim: To discuss the distinguishing clinical, radiological, and laboratory features of LAD-III.

Acute stroke in familial Mediterranean fever: An analysis of 23 new cases and systematic review of the literature.

Objective: The nature of neurovascular involvement in cases of familial Mediterranean fever (FMF) has not been adequately clarified.

Methods And Patients: Clinical features, infarct topography, vascular status, and stroke etiology were prospectively determined in 35 acute neurovascular events that occurred in 23 FMF patients. Clinicoradiological features were compared with an age- and gender-matched control group of 115 acute stroke patients.

A Rare Central Nervous System Involvement Due to CTLA-4 Gene Defect.

Cytotoxic T-lymphocyte antigen-4 (CTLA-4) haploinsufficiency is the defect of one of the checkpoint inhibitory molecules and defined as a primary immunodeficiency characterized by immune dysregulation. A 26-year-old female with a history of autoimmune hemolytic anemia, autoimmune thrombocytopenia, and hypogammaglobulinemia was admitted with an inability to walk, urinary hesitancy, and bowel incontinence. Neurological examination revealed mild weakness, pyramidal, and deep sensorial involvement of the left lower extremity.

Biallelic loss-of-function variants in EXOC6B are associated with impaired primary ciliogenesis and cause spondylo-epi-metaphyseal dysplasia with joint laxity type 3.

Spondylo-epi-metaphyseal dysplasias with joint laxity, type 3 (SEMDJL3) is a genetic skeletal disorder characterized by multiple joint dislocations, caused by biallelic pathogenic variants in the EXOC6B gene. Only four individuals from two families have been reported to have this condition to date. The molecular pathogenesis related to primary ciliogenesis has not been enumerated in subjects with SEMDJL3.

Life After Tetra Hit: Anti-NMDAR Encephalitis After HSV Encephalitis in a NMOSD Coexistent with Sjögren's Syndrome.

Herpes simplex encephalitis (HSE) and anti-N-methyl-D-aspartate receptor (anti-NMDAR) encephalitis are associated entities. On the contrary, although both are autoimmune diseases, the association of neuromyelitis optica spectrum disorder (NMOSD) and anti-NMDAR encephalitis is not well explained. Herein, we present consecutively developed post-herpetic anti-NMDAR encephalitis in a patient with the coexistence of NMOSD and Sjogren syndrome.

GIMAP6 regulates autophagy, immune competence, and inflammation in mice and humans.

Inborn errors of immunity (IEIs) unveil regulatory pathways of human immunity. We describe a new IEI caused by mutations in the GTPase of the immune-associated protein 6 (GIMAP6) gene in patients with infections, lymphoproliferation, autoimmunity, and multiorgan vasculitis. Patients and Gimap6-/- mice show defects in autophagy, redox regulation, and polyunsaturated fatty acid (PUFA)-containing lipids.