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Rare encephalopathies are here described in order to summarize practical tools that should be considered in the anamnesis, as well as in the physical examination. The way in which the clinical picture was established was the primary point for structuring the review; subsequently, the encephalopathies were subclassified etiologically. Focal symptoms, headaches, abdominal pain, fever or extrapyramidalism, added to the findings in the magnetic resonance imaging, especially if damage to the gray or white matter is observed, and if the lesions are bilateral or not, can be helpful when hypothesizing the etiology of the encephalopathy.

Se describen las encefalopatías poco frecuentes con la finalidad de resumir herramientas prácticas que deben ser consideradas en la anamnesis, como así también en el examen físico. El modo con el cual se instalóel cuadro clínico fue el punto primordial para estructurar la revisión, posteriormente las encefalopatías fueron subclasificadas en forma etiológica. Los síntomas focales, cefaleas, dolor abdominal, fiebre o extrapiramidalismo, sumados a los hallazgos descritos en la resonancia magnética, principalmente si se observa daño de sustancia gris o blanca y si las lesiones son bilaterales o no, pueden ser de ayuda al momento de hipotetizar la etiología de la encefalopatía.

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BACKGROUND: Castleman disease (CD) is a rare lymphoproliferative disorder, with intracranial involvement being exceedingly rare. Unicentric Castleman disease (UCD) is typically benign and localized, but its presentation can mimic other intracranial pathologies, complicating diagnosis. CASE DESCRIPTION: We reported a 52-year-old woman who presented with progressive headaches and language disturbances. Imaging, including MRI and CT, revealed an extra-axial left frontotemporal lesion initially diagnosed as an en plaque meningioma. Surgical resection of the lesion was performed. Histopathological examination revealed UCD with plasma cell predominance, characterized by lymphoid hyperplasia and concentric germinal centers. Immunohistochemical staining confirmed the diagnosis, with positive markers including CD20, CD3, and CD16. CONCLUSION: Intracranial UCD is a rare and challenging differential diagnosis for extra-axial lesions, often resembling meningiomas. Accurate diagnosis requires a combination of imaging and histopathology, with immunohistochemistry playing a crucial role. Complete surgical resection is the optimal treatment for localized UCD.

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INTRODUCTION: Calcifications are the end stage of many parenchymal brain cysticerci and may occur either spontaneously or as the result of treatment with cysticidal drugs. These lesions, traditionally considered inert and asymptomatic, have been associated with several complications that seem to be mostly related to brain damage and inflammation ensuing as the result of the exposure of the host's immune system to parasitic antigens trapped within calcifications. AREAS COVERED: This review, based on the search of different electronic databases up to May 2024, focuses on the reported correlates and complications of calcified cysticerci (chronic headaches, seizures/epilepsy, hippocampal atrophy/sclerosis, gliomas), and the different interventions developed for their prevention and treatment. Common analgesics, non-steroidal anti-inflammatory drugs, corticosteroids, and antiseizure medications have been used with success but, with the exception of the latter, these drugs offer temporary relief of symptoms and support for their use is based on level 3 evidence. EXPERT OPINION: Several strategies may reduce the severity of clinical consequences of calcified cysticerci. Probably, the most relevant intervention would be the prevention of their occurrence or reduction in their size. In this view, the use of bisphosphonates appears as a potential option that needs to be tested in humans.

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Ischemic stroke (IS) results in the interruption of blood flow to the brain, which can cause significant damage. The pathophysiological mechanisms of IS include ionic imbalances, oxidative stress, neuroinflammation, and impairment of brain barriers. Brain barriers, such as the blood-brain barrier (BBB) and the blood-cerebrospinal fluid (CSF) barrier (B-CSF), protect the brain from harmful substances by regulating the neurochemical environment. Although the BBB is widely recognized for its crucial role in protecting the brain and its involvement in conditions such as stroke, the B-CSF requires further study. The B-CSF plays a fundamental role in regulating the CSF environment and maintaining the homeostasis of the central nervous system (CNS). However, the impact of B-CSF impairment during pathological events such as IS is not yet fully understood. In conditions like IS and other neurological disorders, the B-CSF can become compromised, allowing the entry of inflammatory substances and increasing neuronal damage. Understanding and preserving the integrity of the B-CSF are crucial for mitigating damage and facilitating recovery after ischemic stroke, highlighting its fundamental role in regulating the CNS during adverse neurological conditions.

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Extracellular vesicles (EVs) hold promise as a source of disease biomarkers. The diverse molecular cargo of EVs can potentially indicate the status of their tissue of origin, even against the complex background of whole plasma. The main tools currently available for assessing biomarkers of brain health include brain imaging and analysis of the cerebrospinal fluid of patients. Given the costs and difficulties associated with these methods, isolation of EVs of neuronal origin (NEVs) from the blood is an attractive approach to identify brain-specific biomarkers. This perspective describes current key challenges in EV- and NEV-based biomarker research. These include the relative low abundance of EVs, the lack of validated isolation methods, and the difficult search for an adequate target for immunocapturing NEVs. We discuss that these challenges must be addressed before NEVs can fulfill their potential for biomarker research. HIGHLIGHTS: NEVs are promising sources of biomarkers for brain disorders. Immunocapturing NEVs from complex biofluids presents several challenges. The choice of surface target for capture will determine NEV yield. Contamination by non-EV sources is relevant for biomarkers at low concentrations.

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El metotrexato es usado en el tratamiento de leucemia linfoblástica aguda (LLA) de forma intratecal e infusión endovenosa. dentro de sus efectos adversos se describen nefrotoxicidad, hepatotoxicidad, mielosupresión, mucositis, y en menor frecuencia neurotoxicidad. Se presenta el caso de preescolar femenino de 4 años, conocida con diagnóstico de LLA en fase de consolidación I de protocolo nacional 2005; quien posterior a 8 días de recibir metotrexato endovenoso a altas dosis, presentó convulsiones y trastornos del lenguaje. Se realizaron estudios complementarios descartando probables etiologías infecciosas y metabólicas, sin embargo, resonancia magnética cerebral (RMN) simple y electroencefalograma (EEG), demostraron hallazgos de probable causa citotóxica, se emplearon anticonvulsivantes y leucovorina como terapia farmacológica. la neurotoxicidad por metotrexato, está ampliamente descrita en la literatura, apoyando su diagnóstico a través de la RMN; por lo cual es importante tener en cuenta este diagnóstico en pacientes que reciben dicho medicamento y presentan clínica neurológica(AU)

Methotrexate is used in the treatment of acute lymphoblastic leukemia (ALL), intrathecally and intravenously infused. Among its adverse effects are nephrotoxicity, hepatotoxicity, myelosuppression, mucositis, mucositis, pancytopenia; less frequently, neurotoxicity. We present the case of a 4-year-old female preschooler, known to be diagnosed with All in consolidation phase I of the 2005 national protocol; who after 8 days of receiving intravenous methotrexate at high doses, presents seizures and language disorders. complementary studies are carried out, ruling out probable infectious and metabolic etiologies; however simple brain magnetic resonance imaging (MRL) and electroencephalogram (EEG) present findings of a probable cytotoxic cause, anticonvulsants and leucovorin were used as drug therapy. Methotrexate neurotoxicity is widely described in the literature, supporting its diagnosis through MRL; therefore, it is important to take this diagnosis into account in patients who receive this drug and present neurological symptoms(AU)

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Rhino-cerebral mucormycosis (RM) is a rare and opportunistic fungal infection observed in immune-compromised patients and metabolic imbalances such as Diabetes Mellitus. RM rapidly infiltrates blood vessels, leading to vascular thrombosis, subsequent tissue necrosis, and high mortality rates (23.6-60%). Due to its fast advancement, RM is a life-threatening condition requiring accurate clinical decisions by the medical and surgical teams. Based on the report of six cases, we emphasize the need for an early diagnosis and starting antifungal pharmacological therapy at the slightest suspicion of RM. Moreover, the restitution of metabolic balance and aggressive surgical debridement are vital steps to control RM, reducing the possibility of fatal outcomes.

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This article discusses a rare case of coexistent meningiomas and Primary familial brain calcification (PFBC). PFBC is a neurodegenerative disease characterized by brain calcifications and a variety of neuropsychiatric symptoms and signs, with pathogenic variants in specific genes. The study explores the potential link between PFBC and meningiomas, highlighting shared features like intralesional calcifications and common genes such as MEA6. The article also revisits PFBC patients developing other brain tumors, particularly gliomas, emphasizing the intersection of oncogenes like PDGFB and PDGFRB in both calcifications and tumor progression. In recent investigations, attention has extended beyond brain tumors to breast cancer metastasis, unveiling a noteworthy connection. These findings suggest a broader connection between brain calcifications and tumors, encouraging a reevaluation of therapeutic approaches for PFBC.

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Thyroid storm is a rare but well-known life-threatening complication that occurs due to acute exacerbation of thyrotoxicosis with the increased levels of circulating thyroid hormones. Reports of metabolic encephalopathy associated with thyroid storm are scarce. We describe the case of a 23-year-old male patient with no previous history of abnormal thyroid function who had consumed excessive amounts of alcohol before disease onset. The patient was found unconscious and febrile on a roadside by a passerby and was admitted to our hospital's emergency department. His primary clinical presentation included hyperthermia (40.8 °C), nodal tachycardia (180 beats/min), seizures, coma, and hypoglycemia (2.18 mmol/L). The hypoglycemia was quickly corrected after admission, but his level of consciousness showed no improvement. With aggressive screening, the patient was found to have severe thyroid dysfunction (T3 = 6.67 nmol/L, T4 = 252.00 nmol/L, free T3 = 29.20 pmol/L, free T4 = 65.30 pmol/L, and TSH = 0.001 µIU/mL). After medical treatment, plasmapheresis, hemofiltration, and hemoperfusion, the patient showed substantial improvement in thyroid hormone levels and stabilization of vital signs, but the impaired consciousness and seizures persisted. Multiple computed tomography scans revealed brain abnormalities. Magnetic resonance imaging performed after tracheal extubation revealed bilateral frontal lobe lesions. We reported a case of metabolic encephalopathy in a patient with life-threatening thyroid storm and bilateral frontal lobe lesions. Hypoglycemia may have been involved in the development of encephalopathy in our patient. Health care providers should consider thyroid storm in the differential diagnosis of hyperthermia, seizures, and coma. Early plasmapheresis, hemofiltration, and hemoperfusion can lower T4 levels and improve prognosis in patients with thyroid storm and encephalopathy.

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The Bacille Calmette-Guerin (BCG) vaccine is one of the most widely used vaccines in the world for the prevention of tuberculosis. Its immunological capacity also includes epigenetic reprogramming, activation of T cells and inflammatory responses. Although the main usage of the vaccine is the prevention of tuberculosis, different works have shown that the effect of BCG can go beyond the peripheral immune response and be linked to the central nervous system by modulating the immune system at the level of the brain. This review therefore aims to describe the BCG vaccine, its origin, its relationship with the immune system, and its involvement at the brain level.

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INTRODUCCIÓN La Encefalitis de Hashimoto (EH) es una encefalopatía de naturaleza autoinmune, con buena respuesta al tratamiento con corticoides, títulos séricos elevados de anticuerpos antitiroideos y de curso subagudo con recaídas-remisiones. Es una enfermedad poco frecuente, con una presentación clínica variable y fisiopatología aún desconocida. PRESENTACIÓN DEL CASO: Paciente femenina de 76 años con antecedentes de hipotiroidismo primario. Ingresó con un síndrome confusional agudo. Al examen físico vigil, Glasgow 13/15, subfebril (37.8°C) desorientada temporoespacialmente, ecolalia, pupilas isocóricas y reactivas, sin focalidad neurológica. Signos meníngeos negativos. Laboratorio: Hipocalcemia leve (7.8mg/dl), hipopotasemia (K 3,2 mmol/l), PCR 221.9 mg/L. Test rápido para VIH negativo. TC de encéfalo sin alteraciones. Punción lumbar líquido cristal de roca, proteínas 1 g/l, glucosa 0.67 g/l, láctico 1.3, leucocitos 77 células/microL (100% mononucleares). Se interpretó inicialmente como Encefalitis de etiología viral y se le indicó aciclovir. Presentó sensorio alternante, excitación psicomotriz y convulsión tónica clónica generalizada. Debido a deterioro súbito del sensorio, se realizó intubación orotraqueal y se trasladó a Unidad de Terapia Intensiva (UTI). Permaneció bajo asistencia mecánica ventilatoria y con vasopresores. Laboratorio: VDRL, p24 y anticuerpos HIV negativos, TSH 27,82, T4 0,41. PCR de LCR: Virus herpes simple 1 y 2, citomegalovirus y JC negativos. Hemocultivos negativos. Ante sospecha clínica de Encefalitis de Hashimoto, se solicitaron anticuerpos antitiroideo peroxidasa (aTPO), antitiroglobulina (aTG) y Anticuerpos Anti-Receptor de TSH (TRABS), que resultaron positivos. Recibió tratamiento con levotiroxina endovenosa e hidrocortisona. Normaliza valores. Por fallo en el weaning, se realizó traqueostomía. Luego de 21 días de internación en Terapia Intensiva pasó a clínica con posterior alta hospitalaria. Discusión: La EH se puede considerar como diagnóstico, solo después de descartar otras causas. En el caso expuesto se llegó al diagnóstico luego de descartar otras causas posibles, con anticuerpos antitiroideos positivos en altas concentraciones y respuesta al tratamiento con corticoides. Conclusión: Se destaca la necesidad de ampliar el conocimiento de esta patología con el fin de disminuir el subdiagnóstico y promover un inicio precoz del tratamiento, mejorando así su progresión y calidad de vida de los pacientes.

INTRODUCTION: Hashimoto's Encephalitis (HE) is an autoimmune encephalopathy, with a good response to treatment with corticosteroids, high serum titers of antithyroid antibodies and a subacute course with relapses-remissions. It is a rare disease, with a variable clinical presentation and still unknown pathophysiology. CASE REPORT: A 76-year-old female patient with a history of primary hypothyroidism. She was admitted with acute confusional syndrome. On physical examination, she was awake, she was Glasgow 13/15, she was subfebrile (37.8°C), disoriented temporally, echolalia, isochoric and reactive pupils, without neurological focality. Negative meningeal signs. Laboratory: Mild hypocalcemia (7.8 mg/dl), hypokalemia (K 3.2 mmol/l), CRP 221.9 mg/L. Rapid test for HIV negative. Brain CT without alterations. Lumbar puncture rock crystal liquid, proteins 1 g/l, glucose 0.67 g/l, lactic acid 1.3, leukocytes 77 cells/microL (100% mononuclear). It was initially interpreted as Encephalitis of viral etiology and acyclovir was prescribed. He presented alternating sensory, psychomotor excitement, and generalized tonic-clonic seizure. Due to sudden deterioration of the sensorium, orotracheal intubation was performed and he was transferred to the Intensive Care Unit. He remained under mechanical ventilatory assistance and with vasopressors. Laboratory: VDRL, p24 and HIV antibodies negative, TSH 27.82, T4 0.41. CSF PCR: Herpes simplex virus 1 and 2, cytomegalovirus and JC negative. Negative blood cultures. Due to clinical suspicion of Hashimoto's Encephalitis, anti-thyroid peroxidase (aTPO), anti-thyroglobulin (aTG) antibodies and Anti-TSH Receptor Antibodies (TRABS) were requested, which were positive. She was treated with intravenous levothyroxine and hydrocortisone. Normalized values. Due to weaning failure, a tracheostomy was performed. After 21 days of hospitalization in the Intensive Care Unit, she was admitted to the clinic and subsequently discharged from the hospital. Discussion: HD can be considered as a diagnosis, only after ruling out other causes. In the case presented, the diagnosis was made after ruling out other possible causes, with positive antithyroid antibodies in high concentrations and response to treatment with corticosteroids. Conclusion: The need to expand knowledge of this pathology is highlighted in order to reduce underdiagnosis and promote early initiation of treatment, thus improving its progression and quality of life of patients.

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Hypoxia plays a significant role in the development of various cerebral diseases, many of which are associated with the potential risk of recurrence due to mitochondrial damage. Conventional drug treatments are not always effective for hypoxia-related brain diseases, necessitating the exploration of alternative compounds. In this study, we investigated the potential of diphenyl diselenide [(PhSe)2] to ameliorate locomotor impairments and mitigate brain mitochondrial dysfunction in zebrafish subjected to hypoxia. Additionally, we explored whether these improvements could confer resistance to recurrent hypoxia. Through a screening process, an appropriate dose of (PhSe)2 was determined, and animals exposed to hypoxia received a single intraperitoneal injection of 100 mg/kg of the compound or vehicle. After 1 h from the injection, evaluations were conducted on locomotor deficits, (PhSe)2 content, mitochondrial electron transport system, and mitochondrial viability in the brain. The animals were subsequently exposed to recurrent hypoxia to assess the latency time to hypoxia symptoms. The findings revealed that (PhSe)2 effectively crossed the blood-brain barrier, attenuated locomotor deficits induced by hypoxia, and improved brain mitochondrial respiration by modulating complex III. Furthermore, it enhanced mitochondrial viability in the telencephalon, contributing to greater resistance to recurrent hypoxia. These results demonstrate the beneficial effects of (PhSe)2 on both hypoxia and recurrent hypoxia, with cerebral mitochondria being a critical target of its action. Considering the involvement of brain hypoxia in numerous pathologies, (PhSe)2 should be further tested to determine its effectiveness as a potential treatment for hypoxia-related brain diseases.

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Although some studies have shown neuroimaging and neuropsychological alterations in post-COVID-19 patients, fewer combined neuroimaging and neuropsychology evaluations of individuals who presented a mild acute infection. Here we investigated cognitive dysfunction and brain changes in a group of mildly infected individuals. We conducted a cross-sectional study of 97 consecutive subjects (median age of 41 years) without current or history of psychiatric symptoms (including anxiety and depression) after a mild infection, with a median of 79 days (and mean of 97 days) after diagnosis of COVID-19. We performed semi-structured interviews, neurological examinations, 3T-MRI scans, and neuropsychological assessments. For MRI analyses, we included a group of non-infected 77 controls. The MRI study included white matter (WM) investigation with diffusion tensor images (DTI) and functional connectivity with resting-state functional MRI (RS-fMRI). The patients reported memory loss (36%), fatigue (31%) and headache (29%). The quantitative analyses confirmed symptoms of fatigue (83% of participants), excessive somnolence (35%), impaired phonemic verbal fluency (21%), impaired verbal categorical fluency (13%) and impaired logical memory immediate recall (16%). The WM analyses with DTI revealed higher axial diffusivity values in post-infected patients compared to controls. Compared to controls, there were no significant differences in the functional connectivity of the posterior cingulum cortex. There were no significant correlations between neuropsychological scores and neuroimaging features (including DTI and RS-fMRI). Our results suggest persistent cognitive impairment and subtle white matter abnormalities in individuals mildly infected without anxiety or depression symptoms. The longitudinal analyses will clarify whether these alterations are temporary or permanent.

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BACKGROUND: Hepatorenal syndrome is a condition that occurs in people with chronic liver disease (such as alcoholic hepatitis, advanced cirrhosis, or fulminant liver failure) and portal hypertension. The prognosis is dismal, often with a survival of weeks to months. Hepatorenal syndrome is characterised by the development of intense splanchnic vasodilation favouring ascites and hypotension leading to renal vasoconstriction and acute renal failure. Therefore, treatment attempts focus on improving arterial pressure through the use of vasopressors, paracentesis, and increasing renal perfusion pressure. Several authors have reported that the placement of transjugular intrahepatic portosystemic shunts (TIPS) may be a therapeutic option because it decreases portal pressure and improves arterial and renal pressures. However, the evidence is not clearly documented and TIPS may cause adverse events. Accordingly, it is necessary to evaluate the evidence of the benefits and harms of TIPS to assess its value in people with hepatorenal syndrome. OBJECTIVES: To evaluate the benefits and harms of transjugular intrahepatic portosystemic shunts (TIPS) in adults with hepatorenal syndrome compared with sham, no intervention, conventional treatment, or other treatments. SEARCH METHODS: We used standard, extensive Cochrane search methods. The latest search date was 2 June 2023. SELECTION CRITERIA: We included only randomised clinical trials with a parallel-group design, which compared the TIPS placement with sham, no intervention, conventional therapy, or other therapies, in adults aged 18 years or older, regardless of sex or ethnicity, diagnosed with chronic liver disease and hepatorenal syndrome. We excluded trials of adults with kidney failure due to causes not related to hepatorenal syndrome, and we also excluded data from quasi-randomised, cross-over, and observational study designs as we did not design a separate search for such studies. DATA COLLECTION AND ANALYSIS: We used standard Cochrane methods. Our primary outcomes were 1. all-cause mortality, 2. morbidity due to any cause, and 3. serious adverse events. Our secondary outcomes were 1. health-related quality of life, 2. non-serious adverse events, 3. participants who did not receive a liver transplant, 4. participants without improvement in kidney function, and 5. length of hospitalisation. We performed fixed-effect and random-effects meta-analyses using risk ratio (RR) or Peto odds ratio (Peto OR), with 95% confidence intervals (CI) for the dichotomous outcomes and mean difference (MD) or standardised mean difference (SMD) for the continuous outcomes. We used GRADE to assess certainty of evidence. MAIN RESULTS: We included two randomised clinical trials comparing TIPS placement (64 participants) versus conventional treatment (paracentesis plus albumin 8 g/L of removed ascites) (66 participants). The co-interventions used in the trials were dietary treatment (sodium less than 60 mmoL/day), spironolactone (300 mg/day to 400 mg/day), and furosemide (120 mg/day). Follow-up was up to 24 months. Both were multicentre trials from Spain and the USA, and Germany, conducted between 1993 and 2002. Most participants were men (aged 18 to 75 years). We are uncertain about the effect of TIPS placement compared with conventional treatment, during the first 24 months of follow-up, on all-cause mortality (RR 0.88, 95% CI 0.55 to 1.38; 2 trials, 130 participants; I2 = 58%; very low-certainty evidence) and on the development of any serious adverse event (RR 1.60, 95% CI 0.10 to 24.59; 2 trials, 130 participants; I2 = 78%; very low-certainty evidence). The use of TIPS may or may not result in a decrease in overall morbidity such as bacterial peritonitis, encephalopathy, or refractory ascites, during the first 24 months of follow-up, compared with the conventional treatment (RR 0.95, 95% CI 0.77 to 1.18; 2 trials, 130 participants; I2 = 0%; low-certainty evidence). We are uncertain about the effect of TIPS placement versus conventional treatment on the number of people who did not receive a liver transplant (RR 1.03, 95% CI 0.93 to 1.14; 2 trials, 130 participants; I2 = 0%; very low-certainty evidence) or on the length of hospitalisation (MD -20.0 days, 95% CI -39.92 to -0.08; 1 trial, 60 participants; very low-certainty evidence). Kidney function may improve in participants with TIPS placement (RR 0.53, 95% CI 0.27 to 1.02; 1 trial, 70 participants; low-certainty evidence). No trials reported health-related quality of life, non-serious adverse events, or number of participants with improvement in liver function associated with the TIPS placement. Funding No trials reported sources of commercial funding or conflicts of interest between researchers. Ongoing studies We found one ongoing trial comparing TIPS with conventional therapy (terlipressin plus albumin) and listed one study as awaiting classification as no full-text article could be found. AUTHORS' CONCLUSIONS: TIPS placement was compared with conventional treatment, with a follow-up of 24 months, in adults with hepatorenal syndrome type 2. Based on two trials with insufficient sample size and trial limitations, we assessed the overall certainty of evidence as low or very low. We are unsure if TIPS may decrease all-cause mortality, serious adverse events, the number of people who did not receive a liver transplant, and the days of hospitalisation because of the very low-certainty evidence. We are unsure if TIPS, compared with conventional treatment, has better effects on overall morbidity (bacterial peritonitis, encephalopathy, or refractory ascites). TIPS may improve kidney function, but the certainty of evidence is low. The trials included no data on health-related quality of life, non-serious adverse events, and liver function associated with the TIPS placement. We identified one ongoing trial and one study awaiting classification which may contribute to the review when information becomes available.

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OBJECTIVE: To evaluate the use of a large magnetic resonance imaging (MRI) normative dataset to quantify structural brain anomalies that may improve diagnostic sensitivity for atypical brain volume in youth with fetal alcohol spectrum disorder (FASD). STUDY DESIGN: Participants included 48 children with prenatal alcohol exposure (PAE) and 43 controls, ages 8-17 years, from the longitudinal Collaborative Initiative on FASD s. Recently published lifespan brain charts were used to quantify participants' (per)centile for brain volumes (cortical and subcortical gray matter and cortical white matter), providing an index of (dis)similarity to typically developing individuals of the same age and sex. RESULTS: Participants with PAE demonstrated lower mean centile scores compared with controls. Participants with PAE and scores ≤ 10th centile on at least 1 brain volume metric demonstrated significantly lower performance on measures of intellectual function and aspects of executive functioning compared with participants with PAE and "typical" volumes (>10th centile). Brain volume centiles explained a greater amount of variance in IQ and improved sensitivity to brain volume anomalies in FASD compared with the most commonly used diagnostic criterion of occipitofrontal circumference (OFC) ≤ 10th. CONCLUSION: Age- and sex-adjusted brain volumes based on a large normative dataset may be useful predictors of functional outcomes and may identify a greater number of individuals with FASD than the currently used criterion of OFC.

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Heterogeneous nuclear ribonucleoproteins (hnRNPs) belong to a complex family of RNA-binding proteins that are essential to control alternative splicing, mRNA trafficking, synaptic plasticity, stress granule formation, cell cycle regulation, and axonal transport. Over the past decade, hnRNPs have been associated with different brain disorders such as Alzheimer's disease, multiple sclerosis, and schizophrenia. Given their essential role in maintaining cell function and integrity, it is not surprising that dysregulated hnRNP levels lead to neurological implications. This review aims to explore the primary functions of hnRNPs in neurons, oligodendrocytes, microglia, and astrocytes, and their roles in brain disorders. We also discuss proteomics and other technologies and their potential for studying and evaluating hnRNPs in brain disorders, including the discovery of new therapeutic targets and possible pharmacological interventions.

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Alpha-methyl acyl-CoA racemase deficiency (AMACRD) is a rare peroxisomal disorder that results in the accumulation of pristanic acid and 16 cases have been reported in the literature. Here, we present three additional patients, two confirmed by genomic study and one suspected. Three siblings who were born to healthy unrelated parents developed recurrent episodes of encephalopathy, seizures, and behavioral disturbances. In all 3, brain MRI showed lesions in the thalami, cerebral peduncles, and mesencephalic tegmentum, as well as brain volume loss. In addition, one patient had a chronic hemispheric infarct and an acute contralateral infarct, and another had a subacute infarct involving multiple vascular territories without abnormalities on MR angiography.