Corpus callosum & encephalopathy

PURPOSE: Metabolic abnormalities in hepatic encephalopathy (HE) cause brain edema or demyelinating disease, resulting in symmetric regional cerebral edema (SRCE) on MRI. This study aimed to investigate the usefulness of the clustering analysis of SRCE in predicting the development of brain failure. MATERIALS AND METHODS: MR findings and clinical data of 98 consecutive patients with HE were retrospectively analyzed. The correlation between the 12 regions of SRCE was calculated using the phi (Φ) coefficient, and the pattern was classified using hierarchical clustering using the φ2 distance measure and Ward's method...

Copy number variants (CNVs) represent the genetic cause of about 15-20% of neurodevelopmental disorders (NDDs). We identified a ~67 kb de novo intragenic deletion on chromosome 2q22.3 in a female individual showing a developmental encephalopathy characterised by epilepsy, severe intellectual disability, speech delay, microcephaly, and thin corpus callosum with facial dysmorphisms. The microdeletion involved exons 5-6 of GTDC1, encoding a putative glycosyltransferase, whose expression is particularly enriched in the nervous system...

CLCN4-related disorder is a rare X-linked neurodevelopmental condition with a pathogenic mechanism yet to be elucidated. CLCN4 encodes the vesicular 2Cl- /H+ exchanger ClC-4, and CLCN4 pathogenic variants frequently result in altered ClC-4 transport activity. The precise cellular and molecular function of ClC-4 remains unknown; however, together with ClC-3, ClC-4 is thought to have a role in the ion homeostasis of endosomes and intracellular trafficking. We reviewed our research database for patients with CLCN4 variants and epilepsy, and performed thorough phenotyping...

Objective: To explore the clinical and genetic characteristics of asparagine synthase deficiency. Methods: Case series studies. Retrospective analysis and summary of the clinical data of 6 cases with asparagine synthase deficiency who were diagnosed by genetic testing and admitted to the Third Affiliated Hospital of Zhengzhou University from May 2017 to April 2023 were analyzed retrospectively. The main clinical features, laboratory and imaging examination characteristics of the 6 cases were summarized, and the gene variation sites of them were analyzed...

A concussion is a type of mild traumatic brain injury (mTBI). It is prevalent among athletes across a wide variety of sports. The exact mechanism of a concussion is unknown, but it is currently accepted that the acceleration and deceleration of the brain is the insult causing disturbances in activity. The most common symptoms of concussions include but are not limited to dizziness, nausea, vomiting, and headaches. With repetitive concussive injuries, athletes can experience permanent changes such as chronic traumatic encephalopathy (gradual degeneration of brain tissue), which can lead to personality changes and memory deficits...

A 47-year-old woman with a history of substance abuse, depression, and insomnia experienced a collapse. Upon arrival at the hospital, the patient displayed low systolic blood pressure, confusion, dehydration, and renal failure. Urine tests confirmed an amphetamine and opioid overdose. Her condition fluctuated with reduced consciousness, myoclonic movements, fever, and suspected psychogenic seizures. Brain magnetic resonance imaging revealed abnormalities in the splenium of the corpus callosum, which later resolved...

BACKGROUND: The incidence of pediatric hospitalizations has significantly increased since the spread of the omicron variant of COVID-19. Changes of characteristics in respiratory and neurological symptoms have been reported. We performed a retrospective, cross-sectional study to characterize the MRI change in children with an emphasis on the change of cerebral vasculatures. METHODS: We retrospectively collected clinical and MRI data of 31 pediatric patients with neurological symptoms during the acute infection and abnormalities on MRI during the outbreak of omicron variant from April 2022 to June 2022 in Taiwan...

The endosomal sorting complex required for transport (ESCRT) machinery is essential for membrane remodeling and autophagy and it comprises three multi-subunit complexes (ESCRT I-III). We report nine individuals from six families presenting with a spectrum of neurodevelopmental/neurodegenerative features caused by bi-allelic variants in SNF8 (GenBank: NM_007241.4), encoding the ESCRT-II subunit SNF8. The phenotypic spectrum included four individuals with severe developmental and epileptic encephalopathy, massive reduction of white matter, hypo-/aplasia of the corpus callosum, neurodevelopmental arrest, and early death...

OBJECTIVE: To determine the risk on brain lesions according to gestational age (GA) in neonates with neonatal encephalopathy. DESIGN: Secondary analysis of the prospective national French population-based cohort, Long-Term Outcome of NeonataL EncePhALopathy. SETTING: French neonatal intensive care units. PATIENTS: Neonates with moderate or severe neonatal encephalopathy (NE) born at ≥34 weeks' GA (wGA) between September 2015 and March 2017...

We systematically reviewed case reports of posterior reversible encephalopathy syndrome (PRES), and investigated the characteristics of PRES in pregnant Japanese women and the clinical relevance of reversible cerebral vasoconstriction syndrome (RCVS) in pregnant women with PRES. Articles were collected using the PubMed/Medline and Ichushi-Web databases. This review was ultimately conducted on 121 articles (162 patients). The clinical characteristics of PRES, individual sites of PRES lesions, edema types, and clinical characteristics of RCVS in PRES cases were examined...

Mild encephalopathy with a reversible splenial lesion (MERS) is a rare phenomenon, which shows transient lesion in corpus callosum and causes temporary encephalopathy features. A disturbance of consciousness and abnormal and delirious behavior are the most significant neurological symptoms. A seven-year-old child with a history of fever and cough was admitted to our hospital due to sudden bilateral blindness. His physical examination showed confusion, fever, and delirious behavior. No sign of meningeal irritation or focal neurological deficit was observed...

PGAP2 gene has been known to be the cause of "hyperphosphatasia, mental retardation syndrome-3" (HPMRS3). To date, 14 pathogenic variants in PGAP2 have been identified as the cause of this syndrome in 24 patients described in single-case reports or small clinical series with pan-ethnic distribution. We aim to present a pediatric PGAP2 -mutated case, intending to further expand the clinical phenotype of the syndrome and to report our experience on a therapeutic approach to drug-resistant epilepsy.We present the clinical, neuroradiological, and genetic characterization of a Caucasian pediatric subject with biallelic pathogenic variants in the PGAP2 gene revealed by next generation sequencing analysis...

Cytotoxic lesions of the corpus callosum (CLOCCs) are cytotoxic lesions observed in the splenium of the corpus callosum and are also called mild encephalitis or encephalopathy with reversible splenial lesions or reversible splenial lesion syndrome. It was first reported in patients with epilepsy and since then has been observed in a wide variety of diseases, including infections, trauma, metabolic disorders (hyperglycaemia, hypernatraemia and hyponatraemia), mountain sickness and cerebral venous sinus thrombosis...

Mild encephalopathy with reversible splenial lesion (MERS) is a rare clinical-radiological syndrome with a favorable prognosis that typically presents with central nervous system symptoms such as altered mental status, delirious behavior, seizures, muscle weakness, ophthalmoplegia, and headache. The diagnosis of MERS is based on a constellation of central nervous system symptoms within one week of fever, a lesion in the splenium of the corpus callosum, and complete resolution without sequelae. Both clinical and imaging findings generally resolve within a few months...

Susac Syndrome was first described as an inflammatory microangiopathy of the brain and retina. Since then, multiple articles have been published in attempts to improve the understanding of this rare disease. Clinically Susac Syndrome is known to present with triad of encephalopathy, sensorineural hearing loss and branch of retinal artery occlusion (BRAO), along with characteristic "snowball" or "spoke" appearing white matter lesions of the corpus callosum. It has been characterized by vast heterogeneity in terms of its presenting symptoms, severity, and clinical course...

Background: MYRF -related mild encephalopathy with reversible myelin vacuolization (MMERV) is an inherited neurological disorder characterized by dysfunction in the central nervous system and widespread reversible leukoencephalopathy. This paper presents a confirmed case of familial MMERV and summarizes pertinent features to offer guidance for future diagnosis and treatment of MMERV. Case Introduction: We have diagnosed a case of MMERV based on a history of seizures during early childhood and recurrent speech fluency issues in adulthood, reversible abnormal intensities in bilateral white matter in the centrum semiovale and corpus callosum, and the identification of myelin regulatory factor ( MYRF ) heterozygous variants...

PURPOSE: Seizure threshold 2 protein homolog gene (SZT2, MIM: 615463) related diseases are extremely rare autosomal recessive disorders with a wide spectrum of clinical phenotypes ranging from mild intellectual impairment to severe developmental epileptic encephalopathy (DEE). Most SZT2 related diseases are accompanied by craniofacial malformation and corpus callosum malformation. This study attempts to analyze and summarize the clinical phenotype and genetic characteristics of SZT2 related diseases, providing a basis for early diagnosis, treatment, and prognosis...

Acute fatty liver of pregnancy (AFLP) is a rare complication of pregnancy that may result in fulminant hepatic failure. A 28-year-old woman, at 36 weeks of gestation, presented to a maternal-fetal outpatient clinic with fever and headache. She was prescribed analgesics and was planned for follow-up. Two days later, she was taken back for evaluation by her husband to the previous physician again because of the subacute onset of impaired consciousness. Blood tests showed a marked elevation of liver enzymes and C-reactive protein (CRP), and the patient was transported to a tertiary hospital...

Dynamin-1 (DNM1) is involved in synaptic vesicle recycling, and DNM1 mutations can lead to developmental and epileptic encephalopathy. The neuroimaging of DNM1 encephalopathy has not been reported in detail. We describe a severe phenotype of DNM1 encephalopathy showing characteristic neuroradiological features. In addition, we reviewed previously reported cases who have DNM1 pathogenic variants with white matter abnormalities. Our case presented drug-resistant seizures from 1 month of age and epileptic spasms at 2 years of age...

BACKGROUND: Rho-related BTB domain-containing protein 2 ( RHOBTB2 ) is a protein that interacts with cullin-3, a crucial E3 ubiquitin ligase for mitotic cell division. RHOBTB2 has been linked to early infantile epileptic encephalopathy, autosomal dominant type 64 (OMIM618004), in 34 reported patients. METHODS: We present a case series of seven patients with RHOBTB2 -related disorders ( RHOBTB2 -RD), including a description of a novel heterozygous variant. We also reviewed previously published cases of RHOBTB2 -RD...