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The current study estimated incident breakthrough seizures, serum matrix metalloproteinase-9 (MMP-9), and perfusion magnetic resonance imaging (MRI) parameters in five- to 18-year-olds with neurocysticercosis (NCC) from colloidal or vesicular through calcified stages over at least 24 months' follow-up. Single, colloidal, or vesicular parenchymal NCC cases were treated with albendazole and steroids and followed at a tertiary care north Indian hospital. Serum MMP-9 was estimated in colloidal or vesicular treatment-naive state and in a subset of calcified cases at six-month follow-up. The same subset of calcified cases also underwent perfusion MRI of the brain at six-month follow-up. Among 70 cases, 70% calcified at six-month follow-up. Over a median follow-up of 30 months, the incidence of breakthrough seizures was 48.6% (61.2% in calcified and 19.2% in resolved, P = 0.001; 32.9% early [within six months] and 15.7% late [beyond six months], P = 0.02). Serum MMP-9 levels were higher in colloidal and vesicular compared with calcified stage (242.5 vs 159.8 ng/mL, P = 0.007); however, there was no significant association with breakthrough seizures and/or calcification in follow-up. In a subgroup of calcified cases (n = 31), the median relative cerebral blood volume on perfusion MRI in and around the lesion was lower in those with seizures (n = 12) than in those without (n = 19) (10.7 vs 25.2 mL/100 g, P = 0.05). In post-treatment colloidal or vesicular NCC, incident breakthrough seizures decrease beyond six months. In calcified NCC with remote breakthrough seizures, significant perilesional hypoperfusion is seen compared with those without seizures. [ABSTRACT FROM AUTHOR]

Patients with intraventricular neurocysticercosis (IVNCC) may require cerebrospinal fluid diversion surgery for late-onset hydrocephalus in the postsurgical period. Controversy exists regarding cysticidal treatment. Our main objective was to compare surgically treated cases of IVNCC that received postoperative anthelmintics with those that did not regard the incidence and treatment of late-onset hydrocephalus. We searched the Medline database and extracted the following data: age, gender, stage of development of cysticercosis, type of operation, frequency of delayed hydrocephalus, cerebrospinal fluid diversion surgery, outcome, and follow-up. We analyzed 130 articles on intraventricular cysticercosis and identified 117 cases of isolated IVNCC and 314 patients in the case-control series who met inclusion criteria. There was no significant difference in postoperative delayed hydrocephalus between isolated IVNCC and case-control study groups. Children under the age of 16 received anthelmintic drugs more frequently during the postoperative period. Statistical relevance was observed in all patient groups regarding the application of steroids in favor of cysticidal therapy Endoscopy was a better option than craniotomy for cases of isolated IVNCC and case-control studies. Other variables were not relevant. Patients who received antihelminths did not show a statistically significant reduction in delayed hydrocephalus compared to individuals who did not receive after surgical resection of the parasite. Corticosteroid therapy prevailed in people who have been treated with anthelmintics. Children under the age of 16 were administered anthelmintic drugs more frequently during the postoperative period. Endoscopy was the preferred method for all groups, but some patients with cysts in the fourth ventricle required a craniotomy. [ABSTRACT FROM AUTHOR]

Neurocysticercosis is a common cause of epilepsy in Taenia solium -endemic areas in sub-Saharan Africa but is often undiagnosed because of an absence of affordable diagnostic tools. This study evaluated the diagnostic accuracy of a T solium cysticercosis antibody-detecting lateral-flow point-of-care assay (TS POC test) for the neuroimaging-based diagnosis of neurocysticercosis. Patients with epileptic seizures or severe progressive headache were recruited consecutively from three hospitals in southern Tanzania. All patients were tested with the TS POC test. All patients positive for cysticercosis on the TS POC test and every tenth patient who was negative for cysticercosis received a brain CT examination and underwent reference testing for T solium cysticercosis (ie, rT24H-EITB, LLGP-EITB, and antigen ELISA). The primary outcome of the study was the sensitivity of the TS POC test for the diagnosis of neurocysticercosis. Of the 601 recruited participants, 102 (17%) tested positive for cysticercosis with the TS POC test. Overall, 48 (62%) of the 77 patients positive for cysticercosis and five (17%) of the 29 patients negative for cysticercosis on the TS POC test had CT-confirmed neurocysticercosis. The TS POC test yielded a sensitivity of 49% (uncertainty interval [UI] 41–58) for neurocysticercosis. Sensitivity was similar to that of the rT24H-EITB (44%, UI 37–51) and the antigen ELISA (50%, 43–56). For the subset of neurocysticercosis cases with at least one active (ie, vesicular) lesion, sensitivity was above 98% for the TS POC test, the rT24H-ETIB, and the antigen ELISA. The TS POC test showed promising results for the diagnosis of neurocysticercosis in patients with vesicular lesions, which need to be confirmed in a larger study. This test could be considered to support policies on screening patients with suspected neurocysticercosis in clinical settings, which would allow appropriate referral for neuroimaging and early treatment. German Federal Ministry of Education and Research and the European & Developing Countries Clinical Trials Partnership. For the Swahili translation of the abstract see Supplementary Materials section. [ABSTRACT FROM AUTHOR]

Adenovirus is a major pathogen causing febrile illness among children. It may also cause acute encephalitis/encephalopathy. This study aimed to elucidate the clinical features of adenovirus-associated encephalitis/encephalopathy (AdVE) among children in Japan. A nationwide survey of children with AdVE was conducted. An initial survey was distributed among pediatricians to obtain information about children with AdVE treated between January 2014 and March 2019. A second survey was used to obtain the clinical information of children with AdVE from hospitals that responded to the initial survey and those identified from a literature search of the reported cases. We collected demographic data and information about symptoms of infection, neurological symptoms, laboratory parameters, treatment, and outcomes. Outcomes were determined using the Pediatric Cerebral Performance Category Score. Clinical information was available for 23 children with a median age of 39 months. Two had preexisting neurological disorders and six had a history of febrile seizures. The outcome was good in 15 patients and poor in eight patients. Serum lactate dehydrogenase, glucose, and ammonia levels were higher among children with a poor outcome compared to those with a good outcome. Clinically mild encephalitis/encephalopathy with a reversible splenial lesion was the most common type (n = 8), followed by acute encephalopathy with biphasic seizures and late reduced diffusion (n = 7). A prior history of febrile seizures was frequent in children with AdVE. Several different subtypes of acute encephalopathy were seen in children with AdVE, and the outcome was poor in those with acute encephalopathy with biphasic seizures and late reduced diffusion and hemorrhagic shock and encephalopathy syndrome. Elevated lactate dehydrogenase, glucose, and ammonia levels on admission were found to correlate with a poor outcome. [ABSTRACT FROM AUTHOR]

Coronavirus disease 2019 (COVID-19) has significantly impacted medical services worldwide. During the Omicron variant-predominant era, febrile seizure (FS) in patients with COVID-19 increased compared to that in the pre-Omicron variant era. Therefore, this study aimed to demonstrate the clinical characteristics of FS in patients with COVID-19. We surveyed patients aged < 16 years who presented with FS to the emergency room of Tottori University Hospital. The patients were divided into two groups: FS patients with COVID-19 (FS with COVID-19 group) and FS patients without COVID-19 (FS without COVID-19 group) as per the results of the respiratory multiplex array test. Patients with positive results for both SARS-CoV-2 and other microorganisms were excluded. We obtained data on the patients' clinical backgrounds, symptoms, seizure duration, type of FS (simple or complex), diagnostic examinations, laboratory test results, and treatment. We compared the data between the FS with and without COVID-19 groups. A total of 128 patients with FS met the inclusion criteria. Of these, 18 patients and 110 patients were included in the FS with COVID-19 group and without COVID-19 group, respectively. The late FS onset (>60 months) were significantly more common in the FS with COVID-19 group than that in the FS without COVID-19 group. Moreover, patients in the FS with COVID-19 group had significantly longer seizure durations than those in the FS without COVID-19 group. A diazepam (DZP) suppository was administered to 72% of FS patients with COVID-19 after the first seizure during a febrile episode. FS patients with COVID-19 had different distributions of age at onset and seizure duration than those without COVID-19. The use of DZP suppositories was more frequent in FS patients with COVID-19 compared to those without COVID-19. [ABSTRACT FROM AUTHOR]

To describe the evolution of the intracranial features of congenital cytomegalovirus (cCMV) on magnetic resonance imaging (MRI). Sixteen infants with polymerase chain reaction (PCR)-confirmed cCMV who had undergone at least two MRI examinations of the brain were identified. Two paediatric neuroradiologists reviewed the baseline studies retrospectively for intracranial features of cCMV, including white matter signal abnormalities, subependymal cysts, malformations of cortical development, and intracranial calcification. The subsequent MRI studies were then reviewed and directly compared to the baseline examinations. White matter signal abnormalities were seen on all 16 baseline studies (100%); these persisted on all subsequent examinations but were patchier, more focal, and associated with an interval reduction in white matter volume. Subependymal cysts were present on 11 (69%) of the baseline scans; these almost universally regressed (in 10 of the 11 cases [91%]), with no new cysts appreciable on subsequent imaging. Malformations of cortical development, exclusively in the form of polymicrogyria, were seen in six (38%) patients and persisted, unchanged, on subsequent imaging. Intracranial calcification was seen in a minority of baseline studies (4 [25%]) and remained stable on subsequent scans. Children with cCMV who present later in life without an established or suspected underlying pathology can pose a challenge to the assessing radiologist. The radiological sequelae of cCMV can be non-specific; in some cases, white matter signal abnormalities and focal loss of white matter volume may be the only intracranial features. It is therefore important that radiologists are aware of cCMV as a potential differential for these findings. • White matter signal abnormalities in cCMV become patchier over time. • There is an associated reduction in white matter volume on subsequent scans. • Subependymal cysts tend to regress. • Structural malformations and intracranial calcification persist, unchanged. • White matter signal abnormalities and focal volume loss can be the only features. [ABSTRACT FROM AUTHOR]

Neurocysticercosis (NCC)—a parasitic CNS infection endemic to developing nations—has been called the leading global cause of acquired epilepsy yet remains understudied. It is currently unknown why a large proportion of patients develop recurrent seizures, often following the presentation of acute seizures. Furthermore, the presentation of NCC is heterogenous and the features that predispose to the development of an epileptogenic state remain uncertain. Perilesional factors (such as oedema and gliosis) have been implicated in NCC-related ictogenesis, but the effects of cystic factors, including lesion load and location, seem not to play a role in the development of habitual epilepsy. In addition, the cytotoxic consequences of the cyst's degenerative stages are varied and the majority of research, relying on retrospective data, lacks the necessary specificity to distinguish between acute symptomatic and unprovoked seizures. Previous research has established that epileptogenesis can be the consequence of abnormal network connectivity, and some imaging studies have suggested that a causative link may exist between NCC and aberrant network organisation. In wider epilepsy research, network approaches have been widely adopted; studies benefiting predominantly from the rich, multimodal data provided by advanced MRI methods are at the forefront of the field. Quantitative MRI approaches have the potential to elucidate the lesser-understood epileptogenic mechanisms of NCC. This review will summarise the current understanding of the relationship between NCC and epilepsy, with a focus on MRI methodologies. In addition, network neuroscience approaches with putative value will be highlighted, drawing from current imaging trends in epilepsy research. [Display omitted] [ABSTRACT FROM AUTHOR]

• A rare case of thoracic vertebral sparganosis was diagnosed. • Vertebral lesion resection and praziquantel treatment were given to this patient. • Serum antibody tests are useful for the diagnosis of sparganosis. Sparganosis is a rare parasitic infection caused by plerocercoid tapeworm larvae. We described a case of a 27-year-old man presenting with numbness in both legs and masses in the right lung and spine, initially thought to have spinal metastasis from lung cancer. However, after pathological and parasitological examinations, the patient was found to have spinal sparganosis, likely due to a history of consuming raw frogs. The patient was successfully treated with praziquantel, resulting in the recovery of muscle strength in his legs. This case highlights the importance of considering spinal sparganosis as a differential diagnosis in patients with spinal masses, especially those with a history of consuming raw or undercooked frogs. Accurate diagnosis and early treatment are crucial for managing this infection. [ABSTRACT FROM AUTHOR]

The neglected zoonosis cystic echinococcosis affects mainly pastoral and rural communities in both low-income and upper-middle-income countries. In Europe, it should be regarded as an orphan and rare disease. Although human cystic echinococcosis is a notifiable parasitic infectious disease in most European countries, in practice it is largely under-reported by national health systems. To fill this gap, we extracted data on the number, incidence, and trend of human cases in Europe through a systematic review approach, using both the scientific and grey literature and accounting for the period of publication from 1997 to 2021. The highest number of possible human cases at the national level was calculated from various data sources to generate a descriptive model of human cystic echinococcosis in Europe. We identified 64 745 human cystic echinococcosis cases from 40 European countries. The mean annual incidence from 1997 to 2020 throughout Europe was 0·64 cases per 100 000 people and in EU member states was 0·50 cases per 100 000 people. Based on incidence rates and trends detected in this study, the current epicentre of cystic echinococcosis in Europe is in the southeastern European countries, whereas historical endemic European Mediterranean countries have recorded a decrease in the number of cases over the time. [ABSTRACT FROM AUTHOR]

To evaluate the agreement between pathological and radiological staging in oropharyngeal cancer by comparing the 7th and the 8th edition of the AJCC TNM system. This retrospective cohort study included 57 cases of oropharyngeal cancer with lymph node metastases staged with the 7th and 8th editions of the AJCC TNM system. Comparison between clinical and radiological features and differences in agreement rates were calculated between radiological and pathological staging for the primary tumor (T) and lymph nodes (N) in HPVpos and HPVneg cases. Comparison of HPVpos and HPVneg revealed a significantly different distribution between early and advanced stages in the 8 th edition, with a relevant number of HPVpos patients redefined from advanced stages whit the 7 th ed. to early stages with 8 th ed. (p < 0.01); no significant differences were found when comparing all diagnostic methods for T and N. The 8th edition of the AJCC TNM seems to lead to better pretreatment staging. For both HPVpos and HPVneg, the agreement between pretreatment radiological and pathological staging. • The 8th edition of the AJCC TNM seems to lead to a better pre-treatment staging of oropharyngeal cancers. • In both HPVpos and HPVneg, radiological and pathological staging agreement was higher with MRI T and CT for N. • Comparing HPVpos and HPVneg, a relevant number of advanced stage cases with 7th ed converted to early stage with 8th ed. • AJCC TNM 8th ed improves HPVposoropharyngeal cancer staging: better radiological and histological staging agreement. • HPVneg oropharyngeal cancers: higher disagreement rates for lymph node metastasis staging with the 8th ed, mostly with MRI. [ABSTRACT FROM AUTHOR]

Shunting is an established treatment for hydrocephalus, yet reports on shunt outcomes for nonbacterial infection (NBI) hydrocephalus are limited. Furthermore, comparison of mechanisms and rates of failure for shunted NBI hydrocephalus versus more typical etiologies remains undetermined. Patients who underwent shunting for hydrocephalus at 2 centers (1995–2020) were included. Indications for shunting were grouped as "typical" (congenital, posthemorrhagic, normal pressure hydrocephalus, malignancy-related, trauma, and idiopathic) and NBI hydrocephalus (coccidioidomycosis, cryptococcosis, and neurocysticercosis). Rates of shunt malfunction were compared. There were 261 patients shunted for typical hydrocephalus (48.7% male; age = 50.7 ± 21.7) and 93 patients for NBI hydrocephalus (72.0% male; age = 41.8 ± 13.2). For patients with typical hydrocephalus, 29.5% required ≥1 shunt revision, compared with 64.5% with NBI hydrocephalus (P < 1E-5). Of those with malfunction, NBI shunts required more revision operations (median = 3.0; max = 21) than typical shunts (median = 2.0; max = 6; P < 0.05). The censored median time to shunt failure for NBI hydrocephalus was 26.9 months and was not reached for typical etiologies by 180 months. Multivariate analysis showed shunts for NBI hydrocephalus were significantly more likely to fail (hazard ratio = 2.25; 95% confidence interval = 1.58–3.19). A distal pseudocyst was implicated in 30.0% and 2.6% of shunt failures for NBI and typical hydrocephalus, respectively (P < 1E-5). Sixteen (26.7%) NBI shunt failures required revision to lower-resistance systems compared to 6 (7.8%) typical failures (P < 0.05). Shunts placed for hydrocephalus secondary to nonbacterial infections are complicated by significantly higher rates of malfunction. These patients are prone to develop distal abdominal pseudocysts and often require revision to low-resistance systems. [ABSTRACT FROM AUTHOR]

Neurocysticercosis (NCC) is an unusual cause of seizures in high income settings. It typically presents as an afebrile seizure in a previously well child and can occur years after migration or travel. Children diagnosed with neurocysticercosis from 01 July 2005 to 30 June 2020 were identified from the electronic medical records of a tertiary children's hospital in Australia. Additionally, a 10-year compilation of case reports of paediatric NCC in high income settings was performed by medline search (publication years 2011–2021). Diagnosis and treatment of neurocysticercosis were reviewed with reference to diagnostic criteria of Del Brutto et al., and the 2017 Infectious Diseases Society of America treatment guidelines. Over a fifteen-year period, eight children were diagnosed with NCC at our hospital in Sydney, Australia. Seizures and history of travel to or migration from South Asia were the two most frequently occurring findings. Children diagnosed after 2016 all received antiparasitic therapy. Outcomes were generally favorable, though long-term epilepsy resulted in some cases. Compiled case reports from high income settings revealed migration and travel exposures commensurate with local demographic patterns, and treatment approaches conforming with 2017 Infectious Diseases Society of America guidelines. Clinicians should be aware of NCC as a differential diagnosis in children from endemic areas presenting with unprovoked seizures as misdiagnosis can occur. Expert review of neuroimaging facilitates diagnosis and can avert unnecessary neurosurgery. In Australia, India was a key exposure country for NCC, reflecting its endemic burden of disease and local travel and migration patterns. • Neurocysticercosis (NCC) is infrequent in high income countries. • NCC should be considered as a differential diagnosis in children with first-episode seizure who have migrated or travelled from endemic areas. • Epidemiological risk factors for NCC in non-endemic, high income settings reflect local migration and travel patterns from endemic countries. • In Australia, having lived in or travelled to India is a key risk factor for NCC. [ABSTRACT FROM AUTHOR]

Suprasellar cysticercosis is a rare entity. Only a few cases are reported in the literature. 1 Clinically, present with visual loss and endocrinopathy and radiologically mimic craniopharyngioma, cystic pituitary adenoma, and Rathke cleft cyst. 2 We present the case of a 34-year-old woman with a history of diminution of vision for 2 months. On examination, her visual acuity was 6/9 bilaterally, per the Snellen chart. The visual field showed incomplete temporal hemianopia in the right eye and a severely depressed field in the left eye. She was evaluated with magnetic resonance imaging (MRI) of the brain, which showed multiple well-defined enhancing cystic lesions in the suprasellar cistern splaying the optic chiasm. Enzyme-linked immunoelectrotransfer blot testing was not done due to the lack of availability at our center. She underwent left pterional craniotomy and excision of the cysts. Multiple cysts were noted during surgery, and all were dissected from the surrounding structures. However, there was a spillage of cystic contents during excision, and they are not associated with any adverse reactions, unlike hydatid cysts. 3 She recovered well. Histopathology suggestive of cysticercal cyst, no scolexes. As per Infectious Diseases Society of America, non-operated subarachnoid neurocysticercosis requires prolonged antiparasitic agents along with steroids. 4 She received 6 weeks of albendazole 15 mg/kg/day and steroids tapered over 3 weeks. At 2 years of follow-up, her visual acuity improved to 6/6 with a normal visual field. Follow-up MRI showed complete removal of all cysts with no relapse. Early surgery is safe and effective. Visual outcome depends on the timing of the diagnosis and prompt intervention. [ABSTRACT FROM AUTHOR]

La neurocysticercose, résultat de l'enkystement des larves de Taenia solium (ver du porc) dans le système nerveux central, est une cause majeure de troubles neuropsychiatriques dans les pays en développement. Parfois appelée « la grande imitatrice », son diagnostic est ardu du fait de la diversité de ses symptômes et des faibles performances diagnostiques des examens biologiques. En raison de la mobilité croissante de la population mondiale, les maladies parasitaires sont un problème émergent dans les pays industrialisés et leur prise en charge peut mettre en déroute les médecins des zones non endémiques, peu familiers avec ce type de tableaux. 'Le psychiatre est souvent en première ligne face à ces pathologies qui peuvent se présenter uniquement sous la forme des troubles psychiatriques (état dépressif, troubles psychotiques...). Nous décrivons, ici, le cas d'un jeune adulte malgache, sans antécédent, qui a présenté un épisode d'amnésie et de déambulation durant trois jours. La présentation clinique a fait initialement évoquer une dissociation péritraumatique. Ce cas illustre la difficulté diagnostique de la neurocysticercose, qui n'a pu être évoquée qu'après une relecture attentive des examens complémentaires. De surcroît, le tableau d'obnubilation, présenté par ce patient, interroge sur la physiopathologie sous-jacente. Une plus grande connaissance de la neurocysticercose est primordiale afin d'éviter l'errance diagnostique et un retard de prise en charge pouvant mettre en jeu le pronostic vital. Taenia solium (pork tapeworm) infection is a well-known intestinal infection following ingestion of raw or undercooked meat from cystercotic pigs. But humans can also act as intermediate hosts when they ingest Taenia solium eggs present in contaminated food or water, conducing to cysticercosis. Neurocysticercosis is due to an encystment into the human brain system of Taenia solium larvae. This is a major cause of neuropsychiatric disorders in developing countries where people live in close proximity to livestock. Thirty-three percent of seizures in endemic countries are related to neurocysticercosis. Nevertheless, the World Health Organisation (WHO) classified neurocysticercosis as a zoonosis with an underestimated impact. This parasite mainly spreads in central and South America, sub-Saharan Africa and India. Only imported cases have been described in Europe, of which seventeen percent were found in France, making it one of the most affected countries in the continent. This can be explained by its vast Malagasy community: in Madagascar, the seroprevalence of cysticercosis is high, close to twenty percent. The diagnosis can be very complicated because of the wide array of symptoms (mobility, cognitive, or mental impairments, epilepsy...); neurocysticercosis is also called "the Great Imitator". This complexity is reinforced furthermore by the poor efficiency of paraclinical exams. The main paraclinic exam is the brain imaging (CT-scan or MRI) showing non-specific calcified lesions of cysts. Electroencephalogram (EEG), lumbar puncture, biology, serology and the fundus of the eye are helpful but not flawless for the diagnosis. For example, the increase of eosinophilia is not found in the chronic form of the disease. As a result of the increasing mobility of people all around the world, parasitic diseases are an emergent problem in our region. Doctors in these non-endemic zones can be challenged by these unfamiliar illnesses. Psychiatrists are often on the front line facing these pathologies that can manifest themselves entirely through psychiatric disorders such as depression, psychotic disorders, etc. The main treatment of neurocysticercosis is albendazole and symptomatic treatment when the parasite reaches calcification. Below, we present the case of a 30-year-old Madagascan, without medical history, who displayed retrograde amnesia after being found wandering in the streets of Paris, claiming he was robbed. A peri traumatic dissociation was initially evoked. But the association of a clouding of consciousness (as presented in this case) with the retrograde amnesia is uncommon for a peritraumatic dissociation. This case clearly shows the difficulty of diagnosing neurocysticercosis. Only after carefully re-reading the CT-scan and relating it to the patient's origin, the disease was finally suggested. Del Brutto criterions are helpful to make the diagnosis of neurocysticercosis. In this case, the patient had one major, one minor and one epidemiological criterion making the diagnosis likely. One month later, the patient made a spontaneous full recovery. This case highlights the complexity of diagnosing neurocysticercosis. Indeed, in non-endemic zones, the symptoms of our patient could be explained by many other diagnostics: partial onset seizures, strokes, cranial trauma, drugs or alcohol abuse, hypoglycemia, other infections with brain calcifications, peritraumatic dissociation, etc. Retrospective or prospective studies could be helpful to improve its screening, diagnosis, and treatment. On the other hand, to improve our knowledge of-, and database for this disease, it could be suitable to class it as a notifiable disease. [ABSTRACT FROM AUTHOR]

[Display omitted] • Racemose neurocysticercosis is the most severe and difficult to treat form of extra-parenchymal neurocysticercosis. • The bladder wall of the racemose cyst has an active MAPK signalling pathway compared with the vesicular cyst. • Metformin reduces the proliferation of the bladder wall targeting proliferative cells of the parasite in vitro and in vivo. • Use of metformin for the treatment of racemose NCC represents an attractive alternative that requires further evaluation. Racemose neurocysticercosis is an aggressive infection caused by the aberrant expansion of the cyst form of Taenia solium within the subarachnoid spaces of the human brain and spinal cord, resulting in the displacement of the surrounding host tissue and chronic inflammation. We previously demonstrated that the continued growth of the racemose bladder wall is associated with the presence of mitotically active cells but the nature and control of these proliferative cells are not well understood. Here, we demonstrated by immunofluorescence that the racemose cyst has an active mitogen-activated protein kinases (MAPK) signalling pathway that is inhibited after treatment with metformin, which reduces racemose cell proliferation in vitro, and reduces parasite growth in the murine model of Taenia crassiceps cysticercosis. Our findings indicate the importance of insulin receptor-mediated activation of the MAPK signalling pathway in the proliferation and growth of the bladder wall of the racemose cyst and its susceptibility to metformin action. The antiproliferative action of metformin may provide a new therapeutic approach against racemose neurocysticercosis. [ABSTRACT FROM AUTHOR]

• Cysticercosis is a neglected human zoonosis worldwide. • Reports of cardiac cysticercosis causing sudden community deaths are rare. • Forensic autopsies of unexpected deaths can reveal undetected cysticercosis. • Cardiac cysticercosis is an important differential to consider in sudden deaths. Cysticercosis is a World Health Organization designated neglected human zoonosis worldwide. Data on cardiac cysticercosis and its contribution to sudden and unexpected community deaths are scarce and require study. A study was performed of cysticercosis-related deaths and other incidental cases of cysticercosis seen at forensic post-mortem examination over a period of 12 months, in individuals who died suddenly and unexpectedly in the community in Lusaka, Zambia. Whole-body post-mortem examinations were performed according to standard operating procedures for post-mortem examinations. Representative samples were obtained from all body organs and subjected to histopathological examination. Information was obtained on circumstances surrounding the death. Data were collated on patient demographics, history, co-morbidities, pathological gross and microscopic findings, and forensic autopsy cause(s) of death. The available literature on cardiac cysticercosis was also reviewed. Nine cases of cysticercosis were identified. Eight of the nine cases had cardiac cysticercosis. There was no prior history of cysticercosis before death. All were male, aged between 28 and 56 years, and from high population density and low socioeconomic communities. There was no community case clustering identified. Cardiac cysticercosis and neurocysticercosis are important incidental findings in sudden and unexpected deaths in the community and can easily be missed antemortem. More investment in forensic autopsy services is required to define the undiagnosed burden of deaths due to treatable communicable diseases. [ABSTRACT FROM AUTHOR]

Mild encephalitis/encephalopathy with a reversible splenial lesion (MERS) is a clinic-radiological syndrome characterized by neurological deficiencies and reversible magnetic resonance imaging findings in the splenium of the corpus callosum. Usually, it has a good prognosis, and patients recover without any sequelae. A viral infection has caused most MERS cases, and bacterial agents have rarely been reported as a cause of MERS. A 5-month-old male was admitted to the hospital with fever, poor feeding, decreased activity and groaning. He had focal seizures and required mechanical ventilation. A lumbar puncture was performed, and nucleic acid amplification tests (NAATs) of cerebral spinal fluid was positive for non-typeable serogroup of Neisseria meningitidis. Cranial magnetic resonance imaging (MRI) performed on day 3 of admission showed T2 hyperintensity and diffusion restriction at the splenium of corpus callosum (SCC). Diffusion restriction in the occipital horn of the left ventricular compatible with empyema was also obvious. According to the findings on cranial MRI, this clinical course was diagnosed as MERS associated with meningitis. His fever resolved in one week, cefotaxime was discontinued after 14 days, and the patient completely recovered. A follow-up MRI performed after three weeks of admission showed complete resolution of the signal intensity changes in the SCC and the occipital horn of the left lateral ventricle. To the best of our knowledge, this is the first report of MERS associated with Neisseria meningitidis in children. Bacterial agents as a cause of MERS should be kept in mind, and we should avoid unnecessary treatment strategies due to the good prognosis of MERS in children. [ABSTRACT FROM AUTHOR]

Epilepsy and neurocysticercosis are common neurological disorders and are major public health issues that contribute to the world's burden of disease. Acute symptomatic seizures, the main clinical manifestation of parenchymal neurocysticercosis, are caused by the host brain immune-inflammatory process in response to the death or degenerative phase of the parasite. Seizures may recur over the course of several months while the local inflammatory activity lasts. If the seizures recur once the acute process resolves, the patient can be diagnosed as having epilepsy. However, most acute symptomatic seizures secondary to neurocysticercosis do not evolve to epilepsy. Recent prospective studies suggest that the development of epilepsy, while more common than in the general population, is not as common in neurocysticercosis patients as originally suggested by cross-sectional studies. Antiparasitic treatment has been found to hasten the transition of cysts from the active phase to the degenerative phase and is associated with a short-term reduction in focal seizures after treatment. However, antiparasitic treatment has not been found to affect the transition from the degenerative phase to calcification, which is an epileptogenic substrate associated with subsequent epilepsy. In this narrative review, we critically appraise the relationship among neurocysticercosis, seizures, and epilepsy in the context of new developments in the literature. [ABSTRACT FROM AUTHOR]

• The first reported Chinese cohort harboring de novo DEAF1 variants. • Distinct features found in eastern-Asian cohort compared to those in other areas. • Different characteristics in ID patients with variants of DEAF1 and other genes. • Identified three variants of DEAF1 that have not been reported before. It has been reported that de novo heterozygous variants of DEAF1 can cause DEAF1 -associated neurodevelopmental disorder. The purpose of this article is to explore the clinical and genetic characteristics of Chinese patients harboring de novo DEAF1 variants. We assembled a cohort of six unrelated patients with de novo variants in DEAF1. Clinical and genetic features of these patients were summarized. Each child showed intellectual disability (ID)/ global developmental delay (GDD). Severe language impairment was prominent. Behavior problems, seizures, sleep disturbance, and a high pain threshold were common features. DEAF1- related seizures were reported to be difficult to treat or intractable. Seizures in our cohort were almost all treatable. Valproic acid was the most commonly used drug. Five heterozygous missense mutations of DEAF1 gene were identified, three of which (p.W234C, p.L203P, p.H275Q) were not published in literature before. Mutations of DEAF1 gene should be considered in ID/GDD patients with a nonspecific phenotype, comprising intellectual disability, prominent speech delay, abnormal behaviors, especially autism. In our study, DEAF1- related epilepsy is completely treatable in Eastern-Asian individuals when compared to patients in other regions, and valproic acid can be used as a first choice. The knowledge of DEAF1 -related neurodevelopmental disorder and the de novo variant database of DEAF1 were expanded. [ABSTRACT FROM AUTHOR]

Taenia solium is a widespread zoonotic tapeworm that predominantly affects regions of Latin America, South and South-East Asia, and Sub-Saharan Africa. Neurocysticercosis (NCC), the presence of T. solium cysts in the brain is associated with diverse clinical manifestations, such as epilepsy, seizures, and neurological deficits. It is a significant cause of preventable epilepsy globally, accounting for approximately 30% of cases in endemic regions. The diagnosis of neurocysticercosis relies on neuroimaging techniques, but these resources are often limited in low-income countries, resulting in an underestimation of the disease burden. The present study enrolled 141 patients who were clinically suspected and radiologically confirmed for NCC at the Neurology OPD of PGIMER, Chandigarh. Additionally, 98 control subjects attending the PGIMER OPD for investigation were also included. Plasma and urine samples were collected from all participants for further analysis. Cell-free DNA extraction was performed using specific kits, and the quality of the extracted DNA was assessed. The RT-LAMP assay targeted the cox1 gene. Real-time RT-LAMP results were evaluated using a fluorescence graph obtained with the Genei III fluorimeter. Among a group of patients diagnosed with NCC, the gene was identified in 74.4% of plasma samples and 67.3% of urine samples. In comparison, the T. solium cox1 gene was found in 6.1% of control subjects in plasma and urine samples using the LAMP assay. In conclusion, the study emphasises the need for improved diagnostic methods for NCC and presents promising alternatives, such as RT-LAMP and urine-based cell-free DNA analysis. These approaches offer advantages in terms of cost-effectiveness, simplicity, and diagnostic accuracy. • Real-time LAMP, targeting infection-induced cell-free DNA in plasma and urine samples. • RT-LAMP assay examines the presence of the cox1 gene from Taenia solium. • Six sets of primers, including loop primers, were employed to enhance efficiency. • LAMP assay demonstrated a sensitivity of 74.4% for plasma and 67.3% for urine samples. • LAMP assay exhibited a specificity of 93.8% for both plasma and urine samples. [ABSTRACT FROM AUTHOR]

The aim of our study was to evaluate the yield of head CT in the ED in different age groups and different referral indications. Records of one large academic tertiary care ED were retrospectively reviewed for consecutive adult patients who underwent a head CT between January 1st 2017 and February 10th 2017. CT referral forms and interpretations were obtained and evaluated for demographics, referral indications, and findings. Scans were divided into three groups: acute findings, chronic findings , and normal. The cohort was divided into three age groups. Associations between referral indications and acute findings were calculated. Overall, 1536 of adult patients with ED head CT were included. Acute findings were found in 239/1536 (15.5%) of the CTs. The frequency of acute findings increased with age (p = 0.027). The most common acute findings were brain hemorrhage (32.6%), infarct (27.6%), and mass (23%). The top three referral indications were focal neurologic deficit (28%), trauma (24.7%), and headache (17.5%). The rates of positive acute findings for different referral indications were seizure 27%, confusion 20%, syncope 19%, focal neurologic deficit 16%, head injury 15%, headache 12%, and dizziness 8%. This study shows the yield of ED head CT for acute findings for different age groups and for different referral indications. The frequency of acute findings increased with age. Suspected seizure had the highest association with an acute finding, whereas dizziness had the lowest association. • The probability of a head CT referral in the ED increases with age. • Different referral indications for head CTs conducted in the ED have different yields for acute findings. • The probability for acute and chronic findings in head CTs conducted in the ED increases with age. [ABSTRACT FROM AUTHOR]

The endangered Bengal tiger (Panthera tigris tigris) is a keystone species playing an essential role in ecology as well as in the social and spiritual lives of the Himalayan people. The latest estimate of the Bengal tiger population in Bhutan accounts for 103 individuals. Infectious organisms, including zoonotic parasites causing high burden in human health, have received little attention as a cause of mortality in tigers. Taeniosis/cysticercosis, caused by the cestode Taenia solium , is considered one of the major neglected tropical diseases in Southeast Asia. We present here a case of neurocysticercosis in a Bengal tiger showing advanced neurological disease outside Thimphu, the capital city of Bhutan. After palliative care, the animal died, and necropsy revealed multiple small cysts in the brain. Here we show the presence of two genetic variants of T. solium in the parasite material collected based on PCR and sequencing of the complete cox1 and cytB genes. The sequences form a discrete branch within the Asia plus Madagascar cluster of the parasite. On other hand, tests for feline morbillivirus, feline calicivirus, canine distemper virus, Nipah, rabies, Japanese encephalitis, feline leukaemia and feline immunodeficiency virus were negative. In contrast, PCR for feline herpesvirus was positive and a latex agglutination test revealed an elevated antibody titer against Toxoplasma gondii (titer 1:256). The molecular examination of taeniid eggs isolated from the tiger faeces produced sequences for which the highest homology in GenBank is between 92% and 94% with T. regis and T. hydatigena. This fatal case of T. solium neurocysticercosis, a disease previously unrecorded in tigers or other non-domestic felids, demonstrates an anthropogenically driven transmission of a deadly pathogen which could become a serious threat to the tiger population. [Display omitted] • This is the first report of a fatal infection with Taenia solium in a Bengal tiger. • There is a need for research into infectious disease threats to tigers in Bhutan. • The importance of a 'One Health' approach is demonstrated and recommended. • Non-domestic felids. [ABSTRACT FROM AUTHOR]

Neurocysticercosis is a condition characterized by the presence of Taenia solium (larval stage: Cysticercus cellulosae) in the brain and is classified as a tropical disease. Although it was previously uncommon in Europe, the number of cases has been increasing over the past decade. In this report, we present a case of a patient who was admitted with symptoms of raised intracranial pressure and biventricular hydrocephalus, without evidence of infection. Imaging studies revealed the presence of an atypical colloid cyst, which was subsequently removed using a neurosurgical endoscopic approach. Anatomopathologic analysis confirmed the presence of a C. cellulosae larva. It is crucial not to overlook or misdiagnose isolated intraventricular neurocysticercosis because it can lead to complications such as delayed diagnosis and dissemination of the cyst. [ABSTRACT FROM AUTHOR]

Objective: The effects of vagus nerve stimulation (VNS) on sleep disordered breathing (SDB) have been reported in limited case series. Detailed studies, particularly in the pediatric population, have not been performed. The primary purpose of this study is to describe clinical characteristics, polysomnographic findings, and management of children treated with VNS.Methods: A retrospective review of medical records and polysomnography data was performed in patients ages 0-20 years old receiving VNS therapy for refractory epilepsy at Cincinnati Children's Hospital Medical Center.Results: 22 subjects met the inclusion criteria. 50% were male. The mean age at the time of VNS insertion was 8.4 ± 4.0 years. The mean age at the first PSG was 10.6 ± 4.3 years. Common presentations to sleep clinics included snoring (77.3%), frequent nighttime awakening (68.1%), and parasomnias (63.6%). The median apnea-hypopnea index (AHI) was 4.5/hr (IQR 3.0-13.1) and the median obstructive index (OI) was 4.1/hr (1.5-12.8). Obstructive sleep apnea (OSA) was diagnosed after VNS insertion in 19 patients (86.4%), 8 of which (36.3%) had severe OSA. Six patients (27.3%) had significant hypoventilation. For management, 6 patients (27.2%) were treated with bilevel PAP, 3 patients (13.6%) with CPAP, 2 patients (9.1%) with ventilator, 4 patients (18.2%) with upper airway surgeries, and 9 patients (40.9%) received medications only.Conclusions: SDB is common in pediatric patients with medically refractory epilepsy managed with VNS who were referred to sleep medicine clinics. Both OSA and nocturnal alveolar hypoventilation are relatively common in this population. Management of SDB often involves the use of positive airway pressure therapy or upper airway surgeries. Further studies are needed to assess the prevalence, risk factors, and the effect of treatments on epilepsy control. This study highlights the need for screening of SDB prior to and following VNS implantation. [ABSTRACT FROM AUTHOR]

• Malformations of cortical development (MCDs) are a common cause of epilepsy. • Mutations impacting all cells cause generalized MCDs, whereas mutations impacting a subset cause focal MCDs. • Focal MCDs are often due to disrupted mTOR signaling or protein glycosylation. • 'Two-hit' model is gaining appreciation as a cause for MCDs. Cortical development involves neurogenesis followed by migration, maturation, and myelination of immature neurons. Disruptions in these processes can cause malformations of cortical development (MCD). Radial glia (RG) are the stem cells of the brain, both generating neurons and providing the scaffold upon which immature neurons radially migrate. Germline mutations in genes required for cell migration, or cell–cell contact, often lead to global MCDs. Somatic mutations in RG in genes involved in homeostatic function, like mTOR signaling, often lead to focal MCDs. Two different mutations occurring in the same patient can combine in ways we are just beginning to understand. Our growing knowledge about MCD suggests mTOR inhibitors may have expanded utility in treatment-resistant epilepsy, while imaging techniques can better delineate the type and extent of these lesions. [ABSTRACT FROM AUTHOR]

Neurocysticercosis (NCC) is the commonest parasitic infection of the central nervous system. There is significant difference in incidence of NCC depending on geographic location, and incidence as high as 4% is reported in the endemic areas. It results from human affliction by the larval stage of Taenia solium. Spinal NCC is quite rare as compared with cranial NCC and accounts for 1.5%–3% of all cases. Both spine and cranium can be rarely involved in NCC, and cranial involvement usually precedes the spinal involvement. We report a case of a 51-year-old woman who had spinal involvement first in the form of spinal intradural extramedullary disease and then developed cranial involvement more than 1 year later. She developed spinal arachnoiditis. She developed communicating hydrocephalous requiring ventriculoperitoneal shunt. Later she developed isolated fourth ventricle and required excision of the fourth ventricular NCC. The unique aspects of our patient were a very aggressive course and involvement of cranium after spinal involvement. We describe her clinical course over 3 years and the management done. NCC can sometimes follow a very aggressive course and can involve both cranial and spinal compartments. Management of such patients is not standardized given the rarity of such cases. [ABSTRACT FROM AUTHOR]

Neurocysticercosis, a common parasitic infection in developing areas, usually exists in supratentorial parenchyma. Literature review shows few case reports published for cerebellopontine angle cysticercosis, but its coexistence with a schwannoma in the same cistern has never been seen before. This leads to confusion in preoperative diagnosis and management. Such a unique case in which dual pathology (i.e., coexisting trigeminal schwannoma along with neurocysticercosis) was present in same location with relevant radiology and histopathology and management is discussed in this case report. Cysticercosis should be kept as a differential diagnosis in cystic lesions of the CP angle, especially in endemic areas and even in cases showing obvious cystic schwannoma on imaging. Care should be taken to prevent spillage of cyst contents while puncturing the cyst wall for a better outcome. [ABSTRACT FROM AUTHOR]

KCNQ2 mutations are associated with benign familial neonatal epilepsy (BFNE) or developmental and epileptic encephalopathy (DEE). In this study, we aimed to delineate the phenotype of KCNQ2 encephalopathy and evaluate the treatment response. Thirteen patients of KCNQ2 encephalopathy were included in the study. Characteristics of KCNQ2 mutations, electroclinical features, clinical course, and response to the treatment were analyzed. Age range of the thirteen patients was between 3 months and 20.9 years. The onset of seizures in 11 patients ranged from 1 to 3 days of age, while in the other two patients it was 7 and 40 days, respectively. Most common initial seizure types were tonic seizures. Initial EEGs were suppression burst pattern in seven patients and slow and disorganized background with multifocal epileptiform discharges in six patients. Initial epilepsy syndrome was Ohtahara syndrome in seven patients, neonatal focal seizure in five patients, and focal epilepsy beyond neonatal period in one patient. Sodium channel blockers including oxcarbazepine (OXC) (n = 3), lamotrigine (LTG) (n = 3), phenytoin (PHT) (n = 2), topiramate (TPM) (n = 2), and zonisamide (ZNS) (n = 1) were tried and found effective in eleven patients. Ultimately, 12 of 13 patients became seizure-free. However, developmental outcomes were poor. Sodium channel blockers are effective in seizure control in these patients with KCNQ2 encephalopathy. Early recognition of KCNQ2 encephalopathy and early use of sodium channel blockers might be helpful in seizure control. [ABSTRACT FROM AUTHOR]

Reversible splenial lesion syndrome (RESLES) is characterized by a temporary lesion in the splenium of the corpus callosum, emerging related to encephalitis, seizures, antiepileptic drug withdrawal, or metabolic disturbances. Among RESLES, mild encephalitis/encephalopathy with reversible splenial lesion (MERS) has been defined as a distinct clinicoradiologic syndrome associated with viral infections. We report two children with multisystem inflammatory syndrome-children related to severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) who developed RESLES during the disease course. Encephalopathy was the main central nervous system symptom. Both of the children showed a rapid recovery, and brain magnetic resonance imaging revealed complete resolution of the splenial lesion within 1 week. The complete resolution of the splenial lesion and rapid recovery from encephalopathy in RESLES associated with SARS CoV-2 were similar to observed in MERS. [ABSTRACT FROM AUTHOR]

Gastrointestinal (GI) difficulties are very common among children with cerebral palsy (CP) and comorbid epilepsy. GI function is influenced by dietary structure on gut microbiota. The aim of this study was to compare gut microbiota differences in two dietary groups of this population and examine whether such differences are related to GI dysfunction. Forty children with CP and epilepsy were recruited from a social welfare center, including 23 consuming a fluid diet (liquid diet group) and 17 consuming a normal diet (general diet group). Bacterial DNA was extracted from feces, the V3-V4 region of the 16S rRNA gene was amplified from the DNA, and high-throughput sequencing of the amplified sequences was performed. Microbe prevalence levels were compared on multiple phylogenic levels. Gut microbial populations differed substantially between the liquid diet group and general diet group. The only two phyla that differed significantly between the two groups were Bacteroidetes (p = 0.034) and Actinobacteria (p = 0.013). Regarding representation of genera, Prevotella species were selectively predominant in the general diet group (25.849% vs. 3.612% in the liquid diet group , p < 0.001), while Bifidobacterium species were selectively predominant in the liquid diet group (24.929% vs. 12.947% in the general diet group, p = 0.013). The gut microbiota of children in the general diet group contained more butyric acid-producing microbiota which was also common in healthy people (e.g. Lachnoclostridium, Dorea, Ruminococcus, Faecalibacterium, Roseburia, and Coprococcus). The gut microbiota of children in liquid diet group however, were rich in symbiotic pathogenic bacteria (e.g. Collinsella , Alistipes , and Eggerthella). The gut microbiota of children with CP and epilepsy consuming a liquid diet had elevated levels of symbiotic pathogens and diminished intestinal barrier protection bacteria, relative to a general diet group. These differences in bacterial microbiota were associated with GI dysfunction symptoms. [ABSTRACT FROM AUTHOR]

The cardinal symptom of acute encephalopathy is impairment of consciousness of acute onset during the course of an infectious disease, with duration and severity meeting defined criteria. Acute encephalopathy consists of multiple syndromes such as acute necrotizing encephalopathy, acute encephalopathy with biphasic seizures and late reduced diffusion and clinically mild encephalitis/encephalopathy with reversible splenial lesion. Among these syndromes, there are both similarities and differences. In 2016, the Japanese Society of Child Neurology published 'Guidelines for the Diagnosis and Treatment of Acute Encephalopathy in Childhood', which made recommendations and comments on the general aspects of acute encephalopathy in the first half, and on individual syndromes in the latter half. Since the guidelines were written in Japanese, this review article describes extracts from the recommendations and comments in English, in order to introduce the essence of the guidelines to international clinicians and researchers. [ABSTRACT FROM AUTHOR]

Recent advances in respiratory management have improved survival for patients with Fukuyama congenital muscular dystrophy (FCMD), characterized by congenital muscular dystrophy and brain malformation. Previous studies reported that more than half of patients exhibit seizures in childhood. However, little is known about epilepsy after childhood. To elucidate the long-term clinical course of epilepsy, we retrospectively reviewed all medical records in nine patients (6 males, mean age 20.7 years) with FCMD diagnosed between 1981 and 2019. The follow-up periods ranged from 6 to 30 years (mean 18.4 years). A total of 75 EEG recordings were available from nine patients. In some patients, EEGs were normal during early childhood but tended to show paroxysmal discharges with age. Overall, epileptic seizures were observed in six patients. Except for one presenting with afebrile seizure at one year of age, the remaining five patients developed epilepsy between 13 and 22 years of age. The most common seizure type was focal impaired awareness seizure. After adolescence, four patients exhibited status epilepticus. Their convulsive movements of the seizures became less prominent with progression of the disease. At the last evaluation, most patients (5/6) had uncontrolled seizures. Despite presence of distinct brain malformation, epileptic seizures may develop after childhood in FCMD patients. Our experience suggests that clinicians should be careful not to overlook epileptic seizures, especially in advanced-stage patients who had profound muscle weakness. [ABSTRACT FROM AUTHOR]

Lissencephaly is a rare malformation of cortical development due to abnormal transmantle migration resulting in absent or reduced gyration. The lissencephaly spectrum consists of agyria, pachygyria and subcortical band heterotopia. In this study we compared genetic aetiology, neuroradiology, clinical phenotype and response to antiepileptic drugs in patients with epilepsy and lissencephaly spectrum malformations. The study group consisted of 20 patients - 13 males and 7 females, aged 18 months to 21 years at the time of data collection. Genetic testing was performed by oligonucleotide array comparative genomic hybridization (microarray), multiplex ligation-dependent probe amplification (MLPA), targeted gene panels and whole exome/genome sequencing. All neuroradiological investigations were re-evaluated and the malformations were classified by the same neuroradiologist. Clinical features and response to anti-epileptic drugs (AEDs) were evaluated by retrospective review of medical records. In eleven patients (55%) mutations in PAFAH1B1 (LIS1) or variable microdeletions of 17p13.3 including the PAFAH1B1 gene were detected. Four patients (20%) had tubulin encoding gene mutations (TUBA1A, TUBG1 and TUBGCP6). Mutations in DCX, DYNC1H1, ADGRG1 and WDR62 were identified in single patients. In one patient, a possibly pathogenic intragenic deletion in TRIO was detected. A clear radiologic distinction could be made between tubulinopathies and PAFAH1B1 related lissencephaly. The majority of the patients had therapy resistant epilepsy and epileptic spasms was the most prominent seizure type. The best therapeutic response to seizure control in our cohort was obtained by the ketogenic diet, vigabatrin, clobazam, phenobarbital and valproate. The most common genetic aetiologies in our cohort of 20 individuals with epilepsy and lissencephaly spectrum were intragenic deletions or single nucleotide mutations in PAFAH1B1 or larger deletions in 17p13.3, encompassing PAFAH1B1 , followed by mutations in tubulin encoding genes. Radiological findings could reliably predict molecular results only in agyria with a posterior to anterior gradient. Radiological and molecular findings did not correlate consistently with severity of clinical outcome or therapeutic response. • The most common genetic aetiology in our cohort was mutations of PAFAH1B1 , followed by mutations in tubulin encoding genes. • A clear radiologic distinction could be made between tubulinopathies and PAFAH1B1. • The majority had seizure onset before 6 months of age and epileptic spasms was the most common seizure type. • The best therapeutic response was obtained by the ketogenic diet. [ABSTRACT FROM AUTHOR]

• Diagnosis and treatment of cerebral peduncle neurocysticercosis have always been a challenge. • This challenge is exacerbated in the context of Vietnam, a resource-restricted environment. • Total resection of the cerebral peduncle neurocysticercosis was adequate when the patient had localized neurological deficits. Diagnosis and treatment of neurocysticercosis have always been a challenge, especially in Vietnam, a resource-restricted environment. Here, we reported successful surgical management of cerebral peduncle neurocysticercosis. A 65-year-old man with no medical history complained of headache and progressive right-sided hemiparesis for one month prior to admission. On examination, his muscle strength was 3/5 (Frankel grade) with positive Hoffmann and Babinski's signs on the right side. His brain's magnetic resonance imaging suggested a cystic brain tumor (29 × 18 mm) situated in the left cerebral peduncle and hypothalamus region. Enzyme-linked immunoassays (ELISA) of serum for Cysticercus cellulosae, Echinococcus , Toxocara, and Amebiasis were negative. The operation was performed with the modified frontotemporal-orbitozygomatic approach. We extirpated both the cysts. Histopathological examination revealed the larva of Taenia solium. Postoperatively, the hemiplegia was completely recovered, and no complication was reported The most recent revised diagnostic criteria of neurocysticercosis emphasised that neuroimaging studies play the most crucial role while clinical manifestations and exposure criteria were only indirect proofs of neurocysticercosis. Neuroimaging and clinical evidence in this patient, however, were more suggestive of cystic brain tumor, which was our most likely preoperative diagnosis. Consequently, total tumor resection required for both histopathological examination and alleviating his hemiplegia. Preoperative diagnosis of neurocysticercosis has always been a challenge. Total resection of the cerebral peduncle neurocysticercosis was adequate when the patient had localized neurological deficits. [ABSTRACT FROM AUTHOR]

Mutations in polymerase gamma gene (POLG) are believed to be an important cause of early and juvenile onset of non-syndromic intractable epilepsy. The aim of this study is to investigate the incidence/prevalence of POLG pathogenic variants in epilespy patients of Han population through sequencing it. Han Chinese patients with seizures prior valproic acid (VPA) exposure at Shanghai Children's Hospital were collected from 2015 to 2019. The clinical diagnosis was based on the 2014 Consensus Statement of Epilepsy by the International League against Epilepsy (ILAE). Blood sampling were performed before VPA treatment. The POLG gene DNA was sequenced by either the first or the next generation sequencing (NGS). The POLG variant burden was illustrated. Liver functions were tested to describe whether they experienced VPA toxicity. Totally 216 Han Chinese patients were included, aged from 1 month to 15 years old, 102 were male and 114 were female. The onset age was 1 month old to 13 years old, and the epilepsy course ranged from 2 weeks to about 3 years. VPA treatment was delivered for the generalized or intractable partial seizures at standard dosage. No patient experienced hepatic toxicity following VPA exposure. DNA sequencing data showed no patient had either a homozygous mutation or compound heterozygous mutation of POLG. Single heterozygous mutations of c.1150G>T and p.D384Y were found in 2 patients, and single heterozygous mutation of c.156_158dupGCA was found in 1 patient. None of these variants showed clinical significance. Functional modifying POLG homozygous mutations and compound heterozygous mutations were not detected and VPA toxicity was not seen in the current study. POLG mutation frequency might be rare in Han Chinese, and standard VPA therapeutic dosage might be safe for Han Chinese patients. [ABSTRACT FROM AUTHOR]

Recently repeat expansions have been found in more than 10 diseases in the past two years. Because the same repeat motifs are found in similar disease (as exemplified by benign adult familial myoclonic epilepsy) or in diseases with overlapping phenotype (as exemplified by fragile X tremor/ataxia syndrome, neuronal intranuclear inclusion disease, oculopharyngeal myopathy with leukoencephalopathy, and oculopharyngodistal myopathy), we propose a new concept of 'repeat motif–phenotype correlation', which argue for toxic gain-of-function mechanism caused by expanded repeats, rather than altered functions of genes harboring expanded repeats. The concept is expected to help identify repeat expansions taking the similar or overlapping clinical presentations as the clues. Although repeat expansions have been identified predominantly in autosomal dominant diseases, recent progresses have demonstrated that they are also observed in autosomal recessive diseases. Furthermore, repeat expansions are not infrequently observed in patients without family histories, which urges us to pay attention to sporadic diseases. We should expand our views toward repeat expansion diseases to accelerate discovery of diseases caused by repeat expansions, better understanding the disease mechanisms, and development of therapeutic measures. [ABSTRACT FROM AUTHOR]

Background: Calcified neurocysticercosis (NCC) predisposes patients to an enduring state of epilepsy. The predictors for calcification in parenchymal neurocysticercosis are not well defined.Method: In this prospective cohort study, consecutive children with single-lesion parenchymal NCC were enrolled and followed up for one year. All patients were investigated with brain 3 T-MRI and electroimmunotransfer blot (EITB). Clinical follow-ups were performed every 3 months. Radiology was repeated at the 6-month and one-year follow-ups. The proportion of calcified lesions at one year and the predictors of calcification were studied.Result: During the study period from June 2013 to December 2015, 93 children with single lesion parenchymal NCC were enrolled. At presentation, 90 % of the lesions were in the colloidal stage, and 71 % of the lesions had moderate to severe perilesional oedema. All children had 6 months of follow-up, and 86 (92.5 %) had one year of follow-up. Seizure recurrence was present in 13 (14 %) children. Follow-up radiology at one year showed lesion resolution in 51 (59 %) lesions and calcification in 28 (32.5 %) lesions. Children with calcified lesions during follow-up had a higher odds of seizure recurrences {OR, 95 % CI 3.6(2.3-5.6)}. The presence at baseline of diffusion restriction {OR, 95% CI 2.9 (1.01-8.8)}, scolex or wall calcification in the T2 Star weighted angiography MRI images {OR, 95% CI 3.7 (1.7-8.2)} and >10 mm size of the lesion {OR, 95 % CI 2.4 (1.2-5.01)} predicted lesion calcification.Conclusion: Children with calcification of the parenchymal NCC lesions have a higher risk for seizure recurrence during follow-up. The presence of diffusion restriction, calcified nidus in the colloidal nodular stage, and >10 mm size of the lesion at baseline predicted calcification of the lesion during follow-up. [ABSTRACT FROM AUTHOR]

Background: In 1994, prevalence and incidence of epilepsy were high in the Itwara onchocerciasis focus (western Uganda), and cases of nodding and Nakalanga syndrome were documented. Onchocerciasis transmission was interrupted successfully in 2001. 17 years later, we re-investigated the epilepsy burden in this area.Methods: From Dec 11 to Dec 15, 2018, a door-to-door survey was done in the three villages (Kabende Centre, Masongora South, and Rwesenene) with the highest epilepsy rates in 1994 to identify people with suspected epilepsy. Epilepsy diagnoses were confirmed by an interview and physical examination by a study clinician. The prevalence and incidence of epilepsy were measured using methods consistent with those used in 1994. Results from 2018 were compared with those from 1994.Findings: The overall crude prevalence of epilepsy in the study villages decreased from 3·0% (35 of 1169) in 1994 to 1·2% (27 of 2325) in 2018 (p=0·0002), with a concomitant decrease in the proportion of people with epilepsy with unknown cause (p=0·037). Between 1994 and 2018, the overall incidence of epilepsy decreased from 418 cases per 100 000 person-years (95% CI 265-626) to 73 new cases per 100 000 person-years (32-114; p<0·0001); this reduction was more pronounced for cases having the first seizure between ages 3 years and 18 years (p<0·0001). No new case of nodding or Nakalanga syndromes had occurred since the interruption of onchocerciasis transmission.Interpretation: Our findings support the existence of a negative association between onchocerciasis elimination and epilepsy burden in previously hyperendemic areas. Therefore, onchocerciasis elimination efforts should be intensified in endemic regions with a high prevalence of epilepsy, which might reduce the burden of epilepsy.Funding: Flemish University Development Cooperation and the European Research Council. [ABSTRACT FROM AUTHOR]

The presentation of cysticercosis is very heterogeneous both between and within countries. Several host and parasite factors are involved in this heterogeneity. Differences in the intensity of infection pressure have not been studied thus far. We have compiled data that could demonstrate that differences in infection pressure are involved in the still high prevalence of parenchymal neurocysticercosis and ocular cysticercosis in some countries (which have a stable infection pressure) and in the high proportion of extraparenchymal neurocysticercosis in others (which have had a progressive decrease in infection pressure). Therefore, the distribution of clinicoradiological forms of cysticercosis could be a marker of the intensity of infection pressure and could help to determine in which countries control programs should be a priority. Clear epidemiological data are lacking regarding the evolution of cysticercosis incidence and prevalence in different endemic countries. Therefore, it is difficult to compare these parameters across countries. Clinicoradiological presentation of neurocysticercosis (NCC) is heterogeneous in the same country and also between countries. The delay between infection and presentation of symptoms is variable and depends, among other things, on the locations of the parasites. We believe that the differences in the proportion of the different forms of cysticercosis between countries is linked, at least in part, to the differences in infection pressure in these countries. This paper allows for a better understanding of the infection dynamic and could contribute to the establishment of NCC control programs tailored to each country. [ABSTRACT FROM AUTHOR]

Praziquantel (PZQ) has been commonly used to treat diverse parasitic infections for over thirty years. Many studies have confirmed its efficacy for the treatment of cysticercosis and the side effects. We reported a rare case of a 56-year-old Chinese man with cerebral cysticercosis. He had experienced acute pancytopenia two times following PZQ treatment (40 mg/kg per day for five days) and gradually recovered after PZQ withdrawal, which was an adverse effect of PZQ that was not previously reported in the literatures. It is suggested that medical observation and dynamic monitoring of PBC should be maintained throughout the entire PZQ therapy course until two weeks after the drug withdrawal, especially in elderly people and those receiving increasing dosages. [ABSTRACT FROM AUTHOR]

In the last two decades, with the advent of whole-exome and whole-genome sequencing, supplemented with linkage analysis, more than 150 genes responsible for X-linked intellectual disability have been identified. Some genes like NEXMIF remain an enigmatic entity, as often the carrier females show wide phenotypic diversity ranging from completely asymptomatic to severe intellectual disability and drug-resistant epilepsy. We report three patients with pathogenic NEXMIF variants from an Indian family. All of them had language predominant developmental delay and later progressed to moderate intellectual disability with autistic features. We also reviewed the previously published reports of patients with pathogenic NEXMIF variants. Together with the presented cases, 45 cases (24 symptomatic females) were identified from 15 relevant research items for analysis. Males have demonstrated a more severe intellectual disability and increasingly delayed walking age, autistic features, central hypotonia, and gastroesophageal reflux. In contrast, females have shown a predominant presentation with drug-resistant epilepsy and mild to moderate intellectual impairment. Notably, the affected females demonstrate a higher incidence of myoclonic, absence, and atonic seizures. The majority of the variants reported are nonsense or frameshift mutations, causing loss of function of the NEXMIF gene, while a considerable proportion possesses chromosomal translocations, microdeletions, and duplications. NEXMIF gene mutations should be suspected in all cases of X-linked ID and autism cases in males or even in refractory epilepsy cases in females. [ABSTRACT FROM AUTHOR]

Epilepsy is considered as the common neurological disease in the world. Early prediction of epileptic seizure gained great influence on the epileptic patient's life. Epileptic patients suffer from unpredictable conditions that may occur at any moment. Various epileptic seizure prediction methods are introduced for accurately predicting the pre-ictal state of human brain, but to determine the discriminative features poses a major challenge in the medical sector. Develop a technique for epileptic seizure prediction using electroencephalogram signals that detects the epileptic seizure automatically. In this research, an effective optimization algorithm, named Modified Atom Search Optimization-based Deep Recurrent Neural Network is proposed to perform accurate seizure prediction with less computation time. Here, the Deep Recurrent Neural Network classifier performs the seizure prediction using various hidden layers associated in the hierarchy layer based on the optimally selected features. The proposed Modified Atom Search Optimization algorithm is designed using the Squirrel Search Algorithm and Atom Search Optimization. It is worth interesting to note that the proposed Modified Atom Search Optimization-based Deep Recurrent Neural Network performed early and accurate seizure prediction using electroencephalogram signals. The analysis of the proposed SASO-based Deep RNN is carried out using CHB-MIT Scalp EEG dataset using the metrics, namely accuracy, sensitivity, and specificity. The proposed algorithm obtained better performance in terms of specificity, accuracy, and sensitivity with the values of 97.536%, 96.545%, and 96.520% by varying training percentage, and 93.736%, 94.128%, and 96.520% by varying K-fold value. The proposed method has significant benefits like, faster convergence rate, easy to implement, low complexity, high speed, and robustness. The weights of the classifier are optimally trained using the proposed algorithm in order to reveal the effectiveness of prediction performance. [ABSTRACT FROM AUTHOR]

Although extraparenchymal neurocysticercosis (NCC) is well established, presentation in the suprasellar space is rare. When presenting in the suprasellar space, the imaging characteristics may mimic more common lesions including craniopharyngioma and Rathke cleft cyst depending on the life cycle of the parasite. Although antiparasitic medical therapy may be effective for viable NCC, it is not routinely employed for calcified NCC. This report presents a 39-year-old male patient who presented with profound visual decline secondary to a partially calcified suprasellar NCC. Suprasellar NCC was presumed based on specific radiologic findings, which are discussed. Medical therapy was not offered because of the proximity to the optic chiasm and the partial calcification of the lesion leading to the presumption that the mass was nonviable. The patient underwent successful endoscopic endonasal resection of the suprasellar NCC and experienced significant improvement in vision. Despite the calcification, pathological evaluation revealed that a portion remained viable. Regardless of the life cycle stage, endonasal resection offers a minimally invasive approach for suprasellar NCC; treatment can be tailored to the patient's presentation and stage of infection. [ABSTRACT FROM AUTHOR]

• EITB is the only serological tool acceptable for Neurocysticercosis diagnosis. • Commercially available ELISA is unsuitable for NCC diagnosis in endemic regions. • Detection of any band of <50 kDa was not associated with NCC in rural populations. • 15 kDa band had significant association with NCC in both study groups. • 17 kDa and 35 kDa bands were linked to degenerating cyst and multiple cysticerci. Neurocysticercosis (NCC) is infection by cestode Taenia solium/ pork tapeworm. Sero-diagnosis of NCC is still a challenge. Radiological imaging (CT/MRI) are cost intensive, requires technical expertise and resource intensive. Hence, its availability is restricted in endemic zone. Existing Enzyme electro immune transfer blot (EITB) antigens are difficult to make and is not standardized for endemic population. Therefore, there is a definite need for easy and reliable EITB tool. T. solium metacestode were harvested from naturally infected swine post slaughter. The cyst fluid/vesicular fluid was aspirated and processed with ultracentrifugation and immune blot was performed with this antigen. A total of 406 cases [rural 256 (NCC 78, seizures other than NCC 108 and healthy controls 70); urban 150 (NCC 41, seizures other than NCC 59 and healthy controls 50)] were enrolled. Positive EITB (detection of band <50 kDa) was significantly associated with NCC patients of urban population only (p < 0.001) but not in rural populations (p = 0.292). However, identification of 15 kDa band had significant association with NCC both in urban and rural populations with overall sensitivity of 91.5% and specificity of 91.6%. Presence of 35 kDa band was associated with multiple NCC (p < 0.001). The study shows that 15 kDa reactive band on EITB is highly sensitive and specific for diagnosis of NCC in endemic population. Presence of 35 kDa band on EITB was associated with infection by multiple cysticerci. The observations demand purification of cyst fluid antigens to develop simple and easy to execute test in field studies. [ABSTRACT FROM AUTHOR]

To describe beneficial effects of callosotomy on KCNQ2 -related intractable epilepsy. Our patient was a 10-year-old girl who had developed epilepsy during the neonatal period, accompanied by a suppression-burst pattern on the electroencephalography (EEG). The patient showed profound psychomotor developmental delay since early infancy. Daily seizures of versive posturing and ocular deviation were transiently controlled by carbamazepine and valproate at the age of 1 year; however, the seizures gradually increased to up to 50 times per day. Ictal EEG and positron emission tomography revealed an epileptic focus in the left frontal lobe at age 5 years. Total callosotomy resulted in marked reduction of epileptic seizures thereafter, as well as improved responses to external auditory and visual stimuli. Whole exome sequencing at age 9 identified a de novo missense variant in KCNQ2 (NM_172107.3:c.563A > C:p.(Gln188Pro)). This case supports that epilepsy surgery could benefit children with epileptic encephalopathy, even with the etiology of channelopathy. [ABSTRACT FROM AUTHOR]

• Success of kidney and/or pancreas transplantation is sometimes tarnished by opportunistic infections such as cryptosporidiosis and microsporidiosis, two neglected infections in developed countries. • We conducted the first prospective study in a French referral center for kidney-pancreas transplantation over a one-year period to gain further insights into the prevalence and risk factors for cryptosporidiosis and microsporidiosis. All patients declaring to have diarrhea underwent, at inclusion, a systematic and standardized etiological exploration and an evaluation of their immunity. A questionnaire about environmental risk factors was also administered. Our prospective study provides new insights and is the first to underline both cryptosporidiosis and microsporidiosis as significant causes of diarrhea in kidney transplant recipients. Gastrointestinal disorders in solid organ recipients may have various origins including cryptosporidiosis and microsporidiosis. The prevalence of these infections is poorly known in solid organ transplant (SOT) patients in industrialized countries. We prospectively assessed the infectious causes of diarrhea in SOT patients. Secondary objectives were to gain further insight into the main characteristics of cryptosporidiosis, and to assess risk factors for this infection. All adult kidney and/or pancreas recipients presenting with diarrhea and admitted to our facility between May 1, 2014 and June 30, 2015 were enrolled. A stool sample was analyzed using a standardized protocol including bacteriological, virological, and parasitological investigations. Data related to clinical symptoms, immunosuppression, and environmental potential risk factors were collected through a self-administered questionnaire and computerized medical records. Out of 73 enrolled patients, 36 had infectious diarrhea (49.3%). Viruses ranked first (17/36), followed by parasites and fungi (11/17). Cryptosporidiosis was the most common parasitic disease (n = 6 patients). We observed four microsporidiosis cases. The estimated prevalence of cryptosporidiosis and microsporidiosis in this cohort was 3.7 and 2.40/ 00 , respectively. No significant risk factor for cryptosporidiosis or microsporidiosis, neither environmental nor immunological, could be evidenced. Both cryptosporidiosis and microsporidiosis represent a significant cause of diarrhea in kidney transplant recipients. [ABSTRACT FROM AUTHOR]

Neurocysticercosis, the infection of the CNS with larval cysts of Taenia solium, is a leading cause of seizures in low-income countries. The clinical presentation of neurocysticercosis is variable and depends on the number, size, and location of cysticerci, and on the immune response of the host. In most patients, the affected site is the brain parenchyma, where cysts can precipitate seizures. Neurocysticercosis has seldom been described in pregnant women. In this Grand Round, we report two cases of pregnant women who immigrated to Italy from Bolivia and Ecuador, and who developed seizures in the early post-partum period, due to calcified parenchymal neurocysticercosis lesions. We discuss the complex interactions between neurocysticercosis and the immune system in pregnancy and the post-partum period. Building on this scenario, we propose practices for the management of neurocysticercosis in pregnancy and the post-partum period, highlighting important gaps in the literature that should be addressed. [ABSTRACT FROM AUTHOR]

We previously reported the nationwide, epidemiological data of acute encephalopathy in Japan during 2007–2010. Here we conducted the second national survey of acute encephalopathy during 2014–2017, and compared the results between the two studies to elucidate the trends in the seven years' interval as well as the influence of changes in pediatric viral infections and guidelines for acute encephalopathy in Japan. The Research Committee on Acute Encephalopathy supported by the Japanese Government sent a questionnaire to 507 hospitals throughout Japan, and collected the responses by mail. A total of 1115 cases from 267 hospitals reportedly had acute encephalopathy during April 2014–June 2017. In this study, the age at onset was younger, the ratios of recently established syndromes, such as acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) and clinically mild encephalitis/encephalopathy with a reversible splenial lesion (MERS), were higher, and the ratio of influenza-associated encephalopathy was lower, than in the previous study. The age at onset of influenza-associated encephalopathy was lower, and that of HHV-6/7-associated encephalopathy higher, compared to the first survey. The outcomes of entire acute encephalopathy remained unchanged. Some of these changes reflected the recent trends of viral infectious diseases including 2009 influenza pandemic, and others the standardization of the diagnosis of acute encephalopathy in Japan. [ABSTRACT FROM AUTHOR]

Technical limitations and clinical challenges have historically limited the diagnostic tools and treatment methods available for surgical approaches to the management of epilepsy. By contrast, recent technological innovations in several areas hold significant promise in improving outcomes and decreasing morbidity. We review innovations in the neurosurgical management of epilepsy in several areas, including wireless recording and stimulation systems (particularly responsive neurostimulation [NeuroPace]), conformal electrodes for high-resolution electrocorticography, robot-assisted stereotactic surgery, optogenetics and optical imaging methods, novel positron emission tomography ligands, and new applications of focused ultrasonography. Investigation into genetic causes of and susceptibilities to epilepsy has introduced a new era of precision medicine, enabling the understanding of cell signaling mechanisms underlying epileptic activity as well as patient-specific molecularly targeted treatment options. We discuss the emerging path to individualized treatment plans, predicted outcomes, and improved selection of effective interventions, on the basis of these developments. [ABSTRACT FROM AUTHOR]