Subcortical and encephalopathy

Posterior reversible encephalopathy syndrome (PRES) represents a distinct neurological entity characterized by a range of neurological signs and symptoms (seizures, headache, visual abnormalities, altered consciousness, and/or focal neurological signs) and typical neuroimaging findings reflecting reversible subcortical vasogenic edema, usually in the setting of blood pressure fluctuations, cytotoxic drugs, autoimmune disorders, and eclampsia. Here we present a case of a 61-year-old woman, with a history of recent total thyroidectomy and postoperative hypoparathyroidism, who was admitted to the Emergency Department with generalized seizures...

Objective: To explore the clinical and imaging features of acute encephalopathy with biphasic seizures and late reduced diffusion(AESD) in children. Methods: For the case series study, 21 children with AESD from Peking University First Hospital, Provincial Children's Hospital Affiliated to Anhui Medical University, Children 's Hospital of Fudan University, and Shanxi Children's Hospital who were diagnosed and treated from October 2021 to July 2023 were selected. Clinical data were collected to summarize their clinical information, imaging, and laboratory tests, as well as treatment and prognostic characteristics...

Posterior reversible encephalopathy syndrome (PRES) is a clinicoradiological syndrome that typically presents with headache, visual disturbances, seizures, and altered consciousness. Its hallmark radiological features involve subcortical white matter lesions on magnetic resonance imaging (MRI), predominantly in the parietal and occipital lobes. While generally reversible with favorable outcomes, a minority of cases may progress to malignant cerebral edema and herniation, resulting in death. We present an unusual case of a 47-year-old woman who developed malignant PRES associated with severe diabetic ketoacidosis (DKA)...

INTRODUCTION: Diagnosing acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) after the first seizure (early seizure/seizures, ES/ESs) is challenging because a reduced apparent diffusion coefficient (ADC) in the cortical or subcortical white matter, often described as having a "bright-tree appearance (BTA)," is usually not observed until secondary seizures (late seizures, LSs) occur. Previous studies have reported hypoperfusion on arterial spin labeling (ASL) within 24 h after ES/ESs in patients with AESD and hyperperfusion within 24 h after LS onset...

BACKGROUND: Patients with cognitive dysfunction may present with significantly prolonged the P2 wave latency of flash visual evoked potential. However, no studies have been reported on whether the P2 wave latency of flash visual evoked potential is prolonged in patients with subcortical arteriosclerotic encephalopathy (SAE). OBJECTIVE: To examine the relationship between flash visual evoked potential P2 wave latency (FVEP-P2 wave latency) and cognitive impairment in patients with SAE...

Mitochondrial diseases (MDs) are heterogeneous genetic disorders characterized by mitochondrial DNA (mtDNA) defects, involving tissues highly dependent on oxidative metabolism: the inner ear, brain, eye, skeletal muscle, and heart. We describe adult patients with genetically defined MDs, characterizing hearing function and neuroimaging results. We enrolled 34 patients (mean age: 50.02 ± 15 years, range: 18-75 years; 20 females and 14 males) classified in four groups: MELAS, MIDD, PEO, and Encephalopathy/Polyneuropathy...

Progressive mitochondrial encephalopathy manifesting as developmental delay, regression, epilepsy, myoclonus, dystonia, and spasticity due to a novel compound heterozygous variant in NARS2 has not been reported. The patient is a 3.5-year-old female with normal psychomotor development until she experienced her first generalized status epilepticus at 4.5 months of age. After seizure control, generalized myoclonus and psychomotor regression became evident. She suffered from two other epileptic states and seizure control remained inadequate despite the use of multiple anti-seizure drugs...

Introduction - SERAC1 deficiency phenotype range from MEGD(H)EL syndrome, the most severe, to juvenile complicated spastic paraplegia, to adult-onset dystonic features (in only one patient). The MEGD(H)EL syndrome is characterized by (3-methylglutaconic aciduria with deafness-dystonia, [hepatopathy], encephalopathy, and Leigh-like syndrome). Biochemical abnormalities: elevated urinary 3 - metilglutaconic and 3-metilglutaric acids, high lactate and alanine in serum. Diagnosis is confirmed when biallelic pathogenic variants in SERAC1 gene are found...

Acute encephalopathy associated with infectious diseases occurs frequently in Japanese children (400-700 children/year) and is the most common in infants aged 0-3 years. Acute encephalopathy is classified into several clinicoradiological syndromes; acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) is the most common subtype, followed by clinically mild encephalitis/encephalopathy with a reversible splenial lesion (MERS) and acute necrotizing encephalopathy (ANE). Neuroimaging, especially magnetic resonance imaging (MRI), is useful for the diagnosis, assessment of treatment efficacy, and evaluation of the pathophysiology of encephalopathy syndromes...

Acute encephalopathy with biphasic seizures and reduced diffusion (AESD) is characterized by biphasic seizures following febrile viral infections and delayed reduced diffusion of the cerebral white matter on magnetic resonance imaging (MRI) diffusion-weighted imaging (DWI) (bright tree appearance, BTA). However, hypoxic encephalopathy with biphasic seizures and AESD-mimicking imaging findings has not been reported. We report a case of hypoxic encephalopathy due to suffocation with concomitant biphasic seizures and BTA, mimicking AESD...

INTRODUCTION: Sporadic Creutzfeldt-Jakob disease (sCJD) is a fatal neurodegenerative condition caused by prion proteins. Cortical and subcortical diffusion-weighted imaging restriction on magnetic resonance imaging (MRI) is associated with sCJD. Posterior reversible encephalopathy syndrome (PRES) results from impaired vessel autoregulation due to an identifiable trigger, which is associated with subcortical fluid-attenuated inversion recovery changes on MRI. We report a case of sCJD initially presenting with PRES...

BACKGROUND: The human immunodeficiency virus (HIV) causes movement disorders in persons living with HIV (PLH). OBJECTIVES AND METHODS: We conducted a systematic review on the spectrum of movement disorders in PLH using standard terms for each of the phenomenologies and HIV. RESULTS: Movement disorders in PLH were commonly attributed to opportunistic infections (OI), dopamine receptor blockade reactions, HIV-associated dementia (HAD), presented during seroconversion, developed due to drug reactions or antiretroviral therapy (ART) itself and lastly, movement disorders occurred as a consequence of the HIV-virus...

Posterior reversible encephalopathy syndrome (PRES) is a rare and severe neurotoxic encephalopathic state characterized by variable neurologic manifestations ranging from headache and confusion to seizures, coma, and reversible subcortical vasogenic edema on imaging. PRES is commonly induced by chronic renal failure, hypertension, chemotherapeutic drugs, and eclampsia. PRES induced by hypercalcemia is uncommon and not widely underlined in the literature. We underline a case of a 61-year-old female diagnosed with advanced breast carcinoma presented with altered sensorium and generalized limb weakness...

Posterior reversible encephalopathy syndrome (PRES) is a clinicoradiological syndrome that is being increasingly recognized due to the advancements in brain imaging, specifically MRI. This syndrome is characterized by symptoms including, but not limited to, headache, seizures, altered mental status, and vision loss. There are various underlying etiologies which lead to PRES occurrence; the etiology of focus in this report is preeclampsia and eclampsia. PRES is associated with the development of various types of intracerebral hemorrhage which can lead to detrimental and even fatal consequences in a patient...

A 37-year-old woman, previously known to have severe airplane phobia, develops panic disorder-like symptoms in the second hour of the flight. After a while, panic disorder was accompanied by chest pain and syncope. An ECG showed no abnormalities. Transthoracic echocardiogram demonstrated decreased left ventricular ejection fraction (EF: 30), large apical akinesis, and characteristic regional wall motion abnormalities involving the middle and apical segments of the left ventricle. Findings were consistent with Takotsubo cardiomyopathy...

BACKGROUND: Posterior reversible encephalopathy syndrome (PRES) is characterized mainly by occipital and parietal lobe involvement, which can be reversible within a few days. Herein, we report a rare case of PRES that developed after craniotomy for an unruptured intracranial aneurysm (UIA). CASE SUMMARY: A 59-year-old man underwent clipping surgery for the treatment of UIA arising from the left middle cerebral artery. Clipping surgery was performed uneventfully, and he regained consciousness quickly immediately after the surgery...

High altitude cerebral edema (HACE) is a clinical spectrum of high-altitude illness. The working diagnosis of HACE should be based on the history of rapid ascent with signs of encephalopathy. Magnetic resonance imaging (MRI) can be crucial in the timely diagnosis of the condition. A 38-year-old female was airlifted from Everest base camp due to sudden onset of vertigo and dizziness. She had no significant medical or surgical history, and routine laboratory tests showed normal results. MRI was performed, which showed no abnormalities except for the detection of subcortical white matter and corpus callosum hemorrhages on susceptibility-weighted imaging (SWI)...

BACKGROUND AND OBJECTIVES: Due to current limitations in diagnosing chronic traumatic encephalopathy (CTE) clinically, traumatic encephalopathy syndrome (TES) has been proposed as the clinical presentation of suspected CTE. This study aimed to determine whether there was an association between a clinical diagnosis of TES and subsequent temporal decline in cognitive or MRI volumetric measures. METHODS: This was a secondary analysis of the Professional Athletes Brain Health Study (PABHS), inclusive of active and retired professional fighters older than 34 years...

BACKGROUND: Despite treatment with therapeutic hypothermia, hypoxic-ischemic encephalopathy (HIE) is associated with adverse developmental outcomes, suggesting the involvement of subcortical structures including the thalamus and basal ganglia, which may be vulnerable to perinatal asphyxia, particularly during the acute period. The aims were: (1) to examine subcortical macrostructure in neonates with HIE compared to age- and sex-matched healthy neonates within the first week of life; (2) to determine whether subcortical brain volumes are associated with HIE severity...

Hypoxic-ischemic (HI) brain injury in neonatal encephalopathy triggers a wave of neuroinflammatory events attributed to causing the progressive degeneration and functional deficits seen weeks after the primary damage. The cellular processes mediating this prolonged neurodegeneration in HI injury are not sufficiently understood. Consequently, current therapies are not fully protective. In a recent study, we found significant improvements in neurologic outcomes when a small molecule antagonist for Activin-Like Kinase 5 (ALK5), a transforming growth factor beta (TGF-β) receptor was used as a therapeutic in a rat model of moderate term HI...