Encephalomalacia

Intracranial Structural Malformations in Children in Tibet: CT and MRI Findings in a Single Tertiary Center

Objectives: The objective of this study was to summarize the findings of children’s intracranial congenital or developmental malformations found during imaging procedures in the Tibetan plateau.

Methods: We retrospectively reviewed the imaging data of the suspected patients who presented with the central nervous system (CNS) malformations and were enrolled either through the clinic or after ultrasound examinations between June 2019 and June 2023 in our institution. All imaging data were interpreted by two experienced radiologists through consensus reading.

Results: In this study, we recruited 36 patients, including two neonates, 17 infants and 17 children. Seven cases underwent an MRI examination, while the others had a CT scan. Polygyria and pachygyria malformation were the most common type of congenital neurological malformations (7 cases, 31.8%), followed by cystic changes of the cerebral parenchyma (3 cases, 13.6%). Cerebral atrophy was the most common type of secondary CNS abnormality (8 cases, 57.1%), followed by communicative hydrocephalus (3 cases, 21.4%). Five patients in the congenital group and 4 patients in the secondary group had complex malformations. In the current study group, there were 8 deaths, 12 cases with neurological sequelae, 1 case with normal development, and 15 cases lost to follow-up. There were no significant differences between the primary and secondary CNS groups in terms of the outcome for both the infants and children groups.

Conclusions: CNS malformations in the Tibetan Plateau are associated with high mortality and morbidity rates. Better utilization of imaging modalities could help design tailored treatments as early as possible.

New Neuroimaging Findings in Patients with Molybdenum Cofactor Deficiency Type A: A Case Report and Literature Review

Introduction: Molybdenum cofactor deficiency (MoCD-A) is an extremely rare autosomal recessive disease that presents with intractable seizures. The diagnosis poses challenges due to the limited number of cases reported worldwide. Magnetic resonance imaging (MRI) is a useful diagnostic tool that can detect brain injury associated with the disorder. The prognosis of MoCD-A is poor partly because most cases are initially misdiagnosed as HIE (hypoxic ischemic encephalopathy), emphasizing the need for an early and accurate diagnosis to improve quality of life and provide adequate genetic counseling to avoid new cases in the future.

Case Report: This report presents a case of molybdenum cofactor deficiency type A (MoCD-A) caused by MOCS1 gene mutations. A male newborn was admitted on the 10th day of birth due to uncontrolled seizures and feeding difficulties. Brain MRI showed severe cerebral damage with multiple foci that did not enhance upon contrast administration. The diagnosis was confirmed by genetic analysis and the patient received rehabilitation. His parents also received genetic counseling. To the best of our knowledge, this is the first reported MoCD-A case that had enhanced MR imaging with Gd-DTPA (0.1 mmol/kg). In addition, we reviewed the clinical and neuroimaging features of 25 newborns diagnosed with MoCD-A, as documented in the existing literature.

Conclusion: MRI is crucial in the diagnosis of MoCD-A. A correct diagnosis can provide the family with timely genetic counseling to prevent future cases.

Danshensu Enhances Cerebral Angiogenesis in Mice by Regulating the PI3K/Akt/Mtor/VEGF Signaling Axis

Background: Cerebral infraction seriously affects the life quality of patients. Danshensu has been reported to exhibit anti-inflammatory and vascular protective effects. However, the therapeutic function of Danshensu in cerebral vascular injury is still unclear.

Methods: Middle cerebral artery occlusion (MCAO) was used to construct the cerebral infraction model. Wound healing and tube formation assays were used to evaluate angiogenesis in vitro. Western blot assay was used to evaluate the activation of the PI3K/Akt/mTOR signaling pathway. The laser Doppler scanner was used to measure the regional cerebral blood flow (rCBF) in the area around the infarction, and the adhesion removal test was used to measure the sensorimotor function. The Modified Neurological Severity Score was performed to evaluate the cognitive functions of mice.

Results: Danshensu promoted the proliferation of bEnd.3 cells and angiogenesis in vitro. Danshensu upregulated the expression of VEGF through PI3K/Akt/mTOR signaling pathway in bEnd.3 cells. Danshensu improved rCBF restoration and attenuated the behavioral deficits in mice post-MCAO/R.

Conclusion: Danshensu enhances angiogenesis through the PI3K/Akt/mTOR/VEGF signaling pathway in a mouse model of cerebral ischemic injury.

Fetal Encephalomalacia Secondary to Acute Maternal Blood Loss: A Case Study

Background: Fetal neurons are sensitive to ischemia which could happen secondary to acute maternal blood loss. The damage to the fetal brain with loss of brain neurons in early gestation leads to encephalomalacia. We describe here a case report of fetal encephalomalacia secondary to acute maternal blood loss.

Case Presentation: A 23-year-old gravida 3, para 2 woman sustained a forearm laceration at 18 weeks of gestation. Her hemoglobin dropped to 7.9 mg/dL. A surgical laceration repair was completed, and she was transfused with blood. At the OB visit the following week, her fetal US showed abnormal brain, evident by the increased size of the lateral ventricles. A follow-up MRI at 30 weeks of gestation confirmed fetal encephalomalacia. A complete investigation, including free cell maternal DNA for chromosomal anomalies, TORCH infection, and Covid PCR, all were negative. Conclusion:

We concluded from the case that any history of significant acute maternal blood loss that required blood transfusion should necessitate a fetal ultrasound to look for fetal well-being, especially for any brain structural changes in the developing brain.

Organic Lesions in the Brain MRI of Children with Febrile Seizure

Objective: Seizure is the most common neurological disorders in children, where 4-10% of the cases experience at least one seizure before the age of 16. The most frequent causes of seizures in children are fever, epilepsy, infection and brain damage. The aim of this study was to investigate the frequency of organic lesions in MRI of children with seizures unrelated to fever.

Materials and Methods: This cross-sectional study included children presented with fever-unrelated seizures. The MRI was examined by a radiologist to identify abnormal findings in each patient. A researcher-made questionnaire including general information, history of head trauma, obstructed labor and the history of seizure was completed for the patients.

Results: Of 287 children with fever-related seizure, 127 (45.7%) were male and 151 (54.3%) were female. History of seizure, history of obstructed labor, abnormal MRI, complete delay, use of antiepileptic drug and history of trauma were 22(9.9%), 1 (0.4%), 11(4%), 5(1.8%), 259(93.2%) and 12 (4.3%), respectively. Of 11 patients with abnormal MRI, 4 had MTS lesions, 2 had tumor lesions, 2 had scarring trauma, 1 had an epidural abscess and 1 had meningitis. The frequency of organic lesions had no significant differences based on gender, use of antiepileptic drug and traumatic history, but it had a significant relation with obstructed labor andthehistory of seizure.

Conclusion: The results showed that organic brain lesions in children with fever-unrelated seizure had a significant relationship with the history of seizure and obstructed maternal labor.

The Value of Corpus Callosum Measurement in the Diagnosis of Cerebral Atrophy

Objective: The study aimed to investigate the relationship between the corpus callosum area (CCa) and the degree of cerebral atrophy in patients with cerebral atrophy.

Methods: 119 patients with brain atrophy were grouped according to the degree of brain atrophy. Median sagittal CCa and intracranial area (ICa) were measured, and the ratio of corpus callosum to the intracranial area (CCa-ICa ratio) was calculated. The data were analyzed using ANOVA.

Results: CCa significantly reduced in patients with cerebral atrophy, and the degree of cerebral atrophy was found to be positively correlated with the degree of reduction in the CCa.

Conclusion: The reduction in the CCa and the CCa-ICa ratio in the median sagittal can be used as a reference indicator for the diagnosis and grading of brain atrophy in clinical practice.

Magnetic Resonance Imaging Findings of Sixth Cranial Nerve Palsies in Patients Presenting with Diplopia

Aim: The aim of our study was to investigate the etiology of patients presenting with double vision due to sixth cranial nerve palsy, and evaluate the relationships between the sixth cranial nerve and vascular structures, with Constructive Interference in a Steady-State (CISS) sequence.

Materials and Methods: For this study, we evaluated the brain and orbital Magnetic Resonance Imaging (MRI) of 26 patients retrospectively, who were diagnosed with binocular diplopia associated with sixth nerve palsy between 2011 and 2016. The MRI images were assessed for those pathologies that can cause diplopia. Additionally, the cisternal segment of the sixth cranial nerve was assessed with CISS sequences for possible vascular contact or compression.

Results: Nine of the 26 patients were over 50 years old, with medical histories of diabetes mellitus, hypertension, and hyperlipidemia/hypercholesterolemia. Microvascular angiopathy was considered for diagnosis in those patients with sixth cranial nerve palsy, while the medical history was normal in 17 of these 26 patients. Brain and orbital MRIs were used to detect any cavernous sinus pathology and/or dural sinus vein thrombosis; however, the MRIs were normal in 9 of 17 patients with sixth cranial nerve palsy. Therefore, vascular compression and/or contact were detected in these patients using the CISS sequence, because diplopia can be caused by vascular contact or compression of the sixth cranial nerve.

Conclusion: Patients with complaints of double vision and normal brain and orbital MRIs should be evaluated using CISS sequences to show the relationships between the sixth cranial nerve and vascular structures.

Neuroimaging of Non-Accidental Injury

Deliberate inflicted trauma to children has irrefutably occurred for centuries but the notion of non-accidental injury (NAI) as a distinct clinical entity has only relatively recently been described. Awareness and understanding of this syndrome of abuse has increased greatly in recent decades, although many alternative names have been given to the condition and uncertainty remains as to what exactly comprises the syndrome.

What is not in question, however, is the role of imaging; the radiologist is often at the front line in terms of raising the spectre of NAI and in assessing the probability given the objective imaging features available.

Non-accidental head injury (NAHI) encompasses a broad spectrum of manifestations, ranging from trivial superficial injuries to potentially fatal severe brain trauma. In this review, we aim to introduce the epidemiological, historical and legal aspects of NAI. Focussing specifically on NAHI, current biomechanical theories and neuropathological aspects will be discussed. Finally, the patterns of injury and prognosticating features with respect to the various imaging modalities will be covered, with careful consideration given to differential diagnoses and syndrome mimics.

Magnetic Resonance Imaging in the Encephalopathic Term Newborn

Neonatal encephalopathy is a neurological emergency with heterogeneous etiologies and several management challenges. Neonatal encephalopathy of hypoxic-ischemic origin is associated with high rate of neonatal morbidity and mortality, and the long-term neurodevelopmental outcome of survivors with moderate to severe encephalopathy is poor. Magnetic resonance imaging now provides new insights on the diagnosis and prognosis of this condition. Typical patterns of brain injury have been recognized and in contemporary cohorts of newborns these patterns reflect different risk factors and clinical presentation, as well as specific patterns of neurodevelopmental outcome. Magnetic resonance spectroscopy, diffusion-weighted imaging, and diffusion tensor imaging are advanced MR techniques that are increasingly used in the assessment of encephalopathic newborns, providing innovative perspectives on neonatal brain metabolism, microstructure, and connectivity. These techniques have been particularly helpful in elucidating the unique time course of neonatal brain injury and in providing quantitative biomarkers for prognostication. To better refine the prognostic value of these new imaging tools, standardization of protocols, imaging modalities and scan timing are needed across centers. It is hoped that these techniques will permit earlier identification of newborns at risk of neurodevelopmental impairment and complement ongoing trials of emerging therapies such as hypothermia and novel pharmacological agents with neuroprotective properties.

Sonographic Diagnosis of Fetal Intraventricular Hemorrhage: Report of Three Cases and Review of the Literature

The aim was to describe our experience in three cases of fetal intracranial hemorrhage (ICH) diagnosed prenatally. This was a retrospective and descriptive study between 2007 and 2010 that included analysis on three cases of ICH from our prenatal care based on information in the records (medical history and imaging studies). One fetus died in utero at 35 weeks of pregnancy and had ICH classified as grade IV. In another case, birth occurred prematurely, at 28 weeks; this newborn died 36 hours after birth and was also classified as ICH grade IV. The third case was born at term, but transfontanellar ultrasound showed a serious cerebral lesion compatible with encephalomalacia. The cases of ICH diagnosed prenatally had poor prognosis due to serious cerebral lesions. Diagnosing ICH prenatally is important for counseling the parents about the poor neonatal prognosis. The short-term postnatal outcome in cases of ICH is usually poor for fetuses with high-grade and/or progressive lesions.

The Blood-Brain Barrier: Its Influence in the Treatment of Brain Tumors Metastases

Brain metastases represent the most common intracranial tumors in the adults. Its incidence outnumbers that of primary brain tumors by a tenfold factor. Estimated cumulative incidence is between 10 to 20% of all cancer patients, which would represent over 170 000 new cases in the US. Typically, patients with multiple brain metastases are exposed to whole brain radiation therapy, as a palliative measure. Resulting median survival improvement is modest, ranging from 3 to 5 months. This survival has not been altered despite 3 decades of clinical research aiming at improving outcome of these patients. The role of standard chemotherapy in the treatment of brain metastases has always been marginal, as the penetration of chemotherapy beyond the BBB (blood-brain barrier) is considered limited. Whereas the BBB is universally recognized as a physiological entity, its role in the treatment of brain metastases remains controversial. Metastatic lesions often depict a homogeneous intense enhancement on either CT or MRI, thus implying that the brain tumor barrier (BTB) is breached. Although there is no doubt that the BBB and BTB suffer from variable degrees of breach in integrity in the presence of malignant brain tumors, impediment to drug delivery remains, and strategy to optimize delivery must be considered if one is to really impact patient ’ s outcome in the treatment of these diseases. The intended purpose of this paper is to review current data on the role of the BBB in the treatment of CNS metastatic disease.

Early Post-Operative Neuroimaging After Surgery for Malignant Glioma

Survival time probably is the most important factor for patients suffering from GBM. However, survival time is also of interest when analyzing efficacy of new therapeutic approaches. Several factors, including the degree of tumor resection, have been reported to influence survival time in patients with GBM. Postoperative imaging modalities including MRI, CT, as well as TCS in this setting play a crucial role to exactly determine the degree of tumor removal. In this review we discuss the advantages and disadvantages of these imaging modalities and the associated pitfalls. Newer modalities like PET-CT and new therapeutic strategies including locally applied chemotherapy (Gliadel) or convection enhanced delivery (CED) and related imaging findings are also discussed.

Behcets Syndrome: Literature Review

Behcets syndrome (BS) is a multisystemic inflammatory disorder characterized by recurrent oral and genital ulcers and ophthalmic alterations, but also involving other systems, including joints, blood vessels, nervous, respiratory and gastrointestinal tracts. Its etiopathogenesis remains unknown, but epidemiologic data suggest an interaction among genetic, immunologic and infectious factors. BS has a worldwide distribution being most frequently seen in the Mediterranean area, Japan and Middle East. In Brazil there are no substantial data regarding its prevalence or incidence. The aim of the present study was to review the main epidemiologic data, clinical features, diagnostic criteria and current treatment of BS.

The Role of Hypocarbia in the Development of Cystic Periventricular Leukomalacia

Cystic periventricular leukomalacia (PVL) is one of the most severe and frequent cause of cerebral palsy in children surviving preterm birth. The pathogenesis of PVL yet is not completely understood. The majority of the theories consider the necrotic foci to be hypoxic-ischemic lesions, resulting from impaired perfusion at the vascular border zones between ventriculopedal and ventriculofugal arteries, as the latter are poorly developed in preterm infants. Besides periventricular vascular anatomic factors and pressure-passive cerebral circulation the intrinsic vulnerability of cerebral white matter (a particular vulnerability of rapidly differentiating oligodendroglial cells) of preterm infants plays an important role. An alternative view focuses on the role of intrauterine infection and the fetal inflammatory response syndrome. Hypocarbia has been identified as an independent risk factor for PVL in many studies. As far as the pathogenesis of PVL is complex and likely multifactorial, the influence of hypocarbia on subsequent white matter damage is most striking in postnatal acquired and late onset cystic PVL. This review analyses clinical trials demonstrating an association between hypocarbia and PVL. Physiological studies on cerebrovascular autoregulation and animal studies presented in this review try to elucidate the underlying mechanisms.

Advances of Liquid Chromatographic Determination of Fumonisins; Potential Mycotoxins for Humans

Fumonisins, first identified in 1988, are naturally-occurring mycotoxins mainly produced by Fusarium verticillioides and F. proliferatum, food-borne fungi widely distributed in crops, and occur as one of the most common contaminants of corn and corn-based foods and feeds. The most abundant fumonisin, fumonisin B1 (FB1), is associated with a range of toxicological effects in animals including equine leukoencephalomalacia, porcine pulmonary edema, and rodent carcinogenicity. In humans, FB1 has been associated with high rates of esophageal cancer and the International Agency for Research on Cancer evaluated the FB1 derived from F. verticililoides as Group 2B, i.e. a possible human carcinogen. Furthermore, FB1 has been found to be a potential cause of human neural tube defects. Fumonisins bear a remarkable structural similarity to sphingosine and their mode of toxic action is in part elucidated in that they may inhibit ceramide synthase, causing accumulation of bioactive intermediates of sphingolipid metabolism. In spite of the need for efficient analysis, the quantification of fumonisins is a difficult task, since they do not bear suitable chromophores nor fluorophores for detection. Practical fluorometric-based high-performance liquid chromatography analysis methods for derivatized fumonisins have been developed since 1990 and a method using o-phthalaldehyde as a fluorescent reagent has been validated. Recently, mass spectrometry analysis has been used to identify fumonisins as liquid chromatography-mass spectrometry interfaces became more widely available. This appears to be the superior method to perform quantitative and qualitative analysis without the need of derivatization procedures. Very recently, the application of tandem mass spectrometry for confirmation and quantification of mycotoxins including fumonisins has been reported. This paper reviews those liquid chromatographic methods developed for this group of mycotoxins.

Twin-to-Twin Transfusion Syndrome: From Placental Anastomoses to Long-Term Neurodevelopmental Outcome

Twin-to-twin transfusion syndrome (TTTS) is a complication of monochorionic twin pregnancies associated with high perinatal mortality and morbidity. Placental vascular anastomoses, almost invariably present in monochorionic placentas, are the essential anatomical substrate for the development of TTTS. According to recent studies, different pathophysiological mechanisms may play a role. Diagnosis of TTTS is no longer based on neonatal criteria such as birth weight discordance and hemoglobin difference, but on strict prenatal ultrasound criteria. A significant evolution in prenatal care strategies and management options for patients with TTTS has occurred during the last decade. Endoscopical laser ablation of communicating placental vessels is a new treatment modality that has led to an increase in survival rates. In perinatology, a decrease in mortality rates may be associated with an increase in morbidity rates. Follow-up studies in infants with TTTS are shedding more light on the wide range of morbidity associated with TTTS, such as neurological, cardiac and renal sequelae. This review analyzes the possible pathophysiological mechanisms involved, discusses the latest findings in diagnosis, therapy and prognosis, and focuses on neonatal and pediatric morbidity associated with TTTS.