Downbeat Nystagmus as a Presenting Manifestation of Neurolisteriosis in a Pregnant Woman.

Listeria monocytogenes has tropism towards two immunologically "privileged" sites, the fetoplacental unit in pregnant women and the central nervous system (neurolisteriosis) in immunocompromised individuals. We report a case of neurolisteriosis in a previously asymptomatic pregnant woman from rural West Bengal, India, who presented with a subacute onset febrile illness with features of rhombencephalitis and a predominantly midline-cerebellopathy (slow and dysmetric saccades, florid downbeat nystagmus, horizontal nystagmus, and ataxia). With timely detection and the institution of prolonged intravenous antibiotic therapy, both the mother and the fetus were saved uneventfully.

Acute onset movement disorders in diabetes mellitus: A clinical series of 59 patients.

BACKGROUND AND PURPOSE: No previous study has assessed the frequency and clinical-radiological characteristics of patients with diabetes mellitus (DM) and acute onset nonchoreic and nonballistic movements. We conducted a prospective study to investigate the spectrum of acute onset movement disorders in DM. METHODS: We recruited all the patients with acute onset movement disorders and hyperglycemia who attended the wards of three hospitals in West Bengal, India from August 2014 to July 2021. RESULTS: Among the 59 patients (mean age = 55.4 ± 14.3 years, 52.5% men) who were included, 41 (69.5%) had choreic or ballistic movements, and 18 (30.5%) had nonchoreic and nonballistic movements. Ballism was the most common movement disorder (n = 18, 30.5%), followed by pure chorea (n = 15, 25.4%), choreoathetosis (n = 8, 13.6%), tremor (n = 5, 8.5%), hemifacial spasm (n = 3, 5.1%), parkinsonism (n = 3, 5.1%), myoclonus (n = 3, 5.1%), dystonia (n = 2, 3.4%), and restless leg syndrome (n = 2, 3.4%). The mean duration of DM was 9.8 ± 11.4 years (89.8% of the patients had type 2 DM). Nonketotic hyperglycemia was frequently (76.3%) detected. The majority (55.9%) had no magnetic resonance imaging (MRI) changes; the remaining showed striatal hyperintensity. Eight patients with MRI changes exhibited discordance with sidedness of movements. Most of the patients (76.3%) recovered completely. CONCLUSIONS: This is the largest clinical series depicting the clinical-radiological spectrum of acute onset movement disorders in DM. Of note was that almost one third of patients had nonchoreic and nonballistic movements. Our findings highlight the importance of a capillary blood glucose measurement in patients with acute or subacute onset movement disorders, irrespective of their past glycemic status.

Neuroimaging of Diabetic Striatopathy: More Questions than Answers.

BACKGROUND: Diabetic striatopathy (DS), coined as a generic term, has been defined as a hyperglycemic condition associated with either one of the two following conditions: chorea/ballism or striatal hyperdensity on computed tomography or striatal hyperintensity on T1-weighted magnetic resonance imaging. This review highlights those "gray areas," which need further exploration to understand better hyperglycemia-induced striatal changes and diverse movement disorder phenotypes associated with these changes. RESULTS AND DISCUSSION: We searched in PubMed and Google Scholar the terms "diabetes mellitus," "movement disorders," "diabetic striatopathy," "chorea," "hemichorea," "ballism," "hemichorea-hemiballism," and "neuroradiology" in various combinations (time range from 1980 to March 2022). We selected the publications about our topic of discussion. SUMMARY: Hemichorea-hemiballismus is the most commonly associated movement disorder in DS, and the putamen is the most frequently affected anatomical region. The exact pathophysiological mechanisms remain elusive. Clinical-radiological discordance is not rare. Complete reversal of symptoms with the resolution of the imaging findings is the most prevalent outcome in patients with DS. Dramatic improvement of chorea can be achieved by either insulin monotherapy or combination therapy of insulin and D2-blocker or, in some cases, even spontaneously. CONCLUSION: The term "diabetic striatopathy" is ambiguous and controversial. Pathological mechanisms behind clinical-radiological discordance in hyperglycemia-induced striatopathy need further exploration through well-designed studies. We propose a classification of DS that includes symptomatic DS (striatal neuroimaging lesions in association with a clinically evident movement disorder and hyperglycemia), clinically isolated DS (clinically evident movement disorders without striatal changes in neuroimaging), and radiologically isolated DS.

Moyamoya angiopathy in a case of Klinefelter syndrome.

Moyamoya angiopathy, a rare cerebrovascular condition, can be primary (moyamoya disease) or secondary (moyamoya syndrome). Genetic factors, such as the ring finger protein 213 (RNF213), have been associated with moyamoya disease. However, X-linked moyamoya angiopathy/moyamoya syndrome and hypergonadotropic hypogonadism associated with moyamoya syndrome are rare. We report a case of a 14-year-old boy who presented with transient bilateral hemiparesis, recurrent seizures and cognitive decline. He previously had surgery for left-sided cryptorchidism and had been diagnosed with "epileptic attacks" or "functional movement disorders" in previous hospital admissions. Magnetic resonance angiography of the brain showed narrowing of supraclinoid portion of internal carotid arteries, as well as of middle and anterior cerebral arteries, and the presence of multiple collaterals. These findings were suggestive of moyamoya angiopathy. Laboratory investigations and karyotyping revealed a diagnosis of Klinefelter syndrome. This case presents a unique association of moyamoya angiopathy and Klinefelter syndrome in a boy from a poor socio-economic background, where the diagnosis and adequate treatment were delayed due to a lack of awareness and expertise.

"Asymptomatic" Moyamoya Angiopathy: Is it Truly Asymptomatic?

INTRODUCTION: An ambiguous definition of "asymptomatic" Moyamoya Angiopathy(aMMA) of absence of ischemic/hemorrhagic episodes in MMA patients, has led to its variable adaptation in the limited past-studies. OBJECTIVE: To observe the clinic-radiological characteristics and prospective follow-up of apparently "asymptomatic" MMA, and to determine if it is truly asymptomatic or not. MATERIALS AND METHODS: An observation, cohort study of 122 angiographically proven MMA over 6 years was undertaken from a single, tertiary-care-center to observe the clinico-radiological characteristics, prospective follow-up of apparently aMMA. Amongst them, 6 had an initial diagnosis of aMMA following evaluation by atleast one post-graduate doctor, which were further scrutinized by 3 different neurologists for epidemiological, clinical, radiological characteristics and subsequent follow-up. Data were analyzed using descriptive statistics. RESULTS: Mean age was 23.7 ± 13.14 years. 3 of 6 underwent brain-imaging for evaluation of non-migraine-like headache, 1 for dizziness, 2 as part of familial screening for MMA. 4 of 6 patients had specific-triggers for aggravation of symptoms. Brain-imaging revealed old vascular insults and ivy sign in 5 of 6 each (83.3%), mean suzuki staging was 3.6±0.82. 4 of 6 underwent cerebral perfusion study, all had hypoperfusion. Revascularization surgery was done in 2 of 6, rest were managed conservatively. None had any new-onset neurological deficit or radiological progression over a mean follow-up period of 22.3 ± 20.22 months. CONCLUSIONS: Apparently aMMA may not be truly asymptomatic and often have subtle "paroxysmal events" precipitated by specific-triggers, indicative of transient ischemic symptoms. Thus, warrants for a more precise definition to avoid misclassification of aMMA.

Visceral Adipose Tissue Molecular Networks and Regulatory microRNA in Pediatric Obesity: An In Silico Approach.

Childhood obesity carries an increased risk of metabolic complications, sleep disturbances, and cancer. Visceral adiposity is independently associated with inflammation and insulin resistance in obese children. However, the underlying pathogenic mechanisms are still unclear. We aimed to detect the gene expression pattern and its regulatory network in the visceral adipose tissue of obese pediatric individuals. Using differentially-expressed genes (DEGs) identified from two publicly available datasets, GSE9624 and GSE88837, we performed functional enrichment, protein-protein interaction, and network analyses to identify pathways, targeting transcription factors (TFs), microRNA (miRNA), and regulatory networks. There were 184 overlapping DEGs with six significant clusters and 19 candidate hub genes. Furthermore, 24 TFs targeted these hub genes. The genes were regulated by miR-16-5p, miR-124-3p, miR-103a-3p, and miR-107, the top miRNA, according to a maximum number of miRNA-mRNA interaction pairs. The miRNA were significantly enriched in several pathways, including lipid metabolism, immune response, vascular inflammation, and brain development, and were associated with prediabetes, diabetic nephropathy, depression, solid tumors, and multiple sclerosis. The genes and miRNA detected in this study involve pathways and diseases related to obesity and obesity-associated complications. The results emphasize the importance of the TGF-ß signaling pathway and its regulatory molecules, the immune system, and the adipocytic apoptotic pathway in pediatric obesity. The networks associated with this condition and the molecular mechanisms through which the potential regulators contribute to pathogenesis are open to investigation.

Scrub Typhus Presenting as Unilateral Abducens Nerve Palsy.

Scrub typhus, an acute febrile infectious disease prevalent in the "Tsutsugamushi Triangle", is a mite-born rickettsial zoonosis, caused by Orientia tsutsugamushi. Although the clinical presentation is protean, it rarely causes abducens nerve palsy. We report a 14-year-old previously healthy Indian girl who presented with a recent onset right abducens nerve palsy and headache, but without fever and without the classic dermatological manifestation ("eschar") of the disease. After exclusion of common infectious, autoimmune, and neoplastic causes, she was finally diagnosed with scrub typhus associated with an abducens nerve palsy, which responded to doxycycline therapy.

Magnetic resonance imaging-negative myeloneuropathy and bilateral facial paresis unfurling systemic lupus erythematosus.

Systemic lupus erythematosus is a chronic autoimmune connective tissue disorder that can affect all the neuroaxes in the central and peripheral nervous systems. Myelopathy in systemic lupus erythematosus is one of the least common neuropsychiatric syndromes accounting for 1%-2% of cases. Myelopathy has long been diagnosed based on clinical findings, laboratory tests, and gold-standard gadolinium-enhanced magnetic resonance imaging (MRI). MRI-negative myelopathy is a recently described subset of myelopathies. Here, we report the case of a young woman from rural West Bengal, India, who presented with overlapping features of white-matter and gray-matter myelopathy associated with peripheral neuropathy and bilateral asymmetric lower motor neuron-type facial paresis. The historical analysis yielded clues toward an etiological diagnosis of systemic lupus erythematosus, further substantiated by seropositivity of lupus-specific autoantibodies. Her neurological disabilities responded poorly to oral administration of hydroxychloroquine, bolus intravenous administration of methylprednisolone, and high-dose cyclophosphamide therapy but eventually responded remarkably well to cyclical rituximab therapy. This case adds to the tally of cases of MRI-negative lupus myelopathy. MRI-negative myelopathy in systemic lupus erythematosus can be easily missed if not meticulous attention is paid during clinical history taking and examinations.

A novel heterozygous mutation in the hydroxymethylbilane synthase gene in a case with acute intermittent porphyria.

Porphyrias are rare metabolic disorders caused by inherited or acquired enzymatic defects in the heme biosynthetic pathway. They are grouped into acute hepatic porphyrias and photocutaneous porphyrias. Acute intermittent porphyria, the most prevalent subtype of acute hepatic porphyrias, is caused by a mutation in the hydroxymethylbilane synthase gene. In this work, a case of a 13 year-old Indian female presenting with multi-organ involvement (Neurological: episodic seizures, behavioral abnormalities, acute onset progressive flaccid-motor quadriparesis, multiple cranial nerve palsies, respiratory paralysis, dysautonomia, and posterior reversible encephalopathy syndrome; Gastrointestinal: recurrent attacks of abdominal pain, nausea/vomiting, isolated transaminitis, and acute pancreatitis; and Renal: metabolic alkalosis and refractory dyselectrolytemia) which resulted in significant diagnostic dilemmas. She was eventually diagnosed as a case of acute intermittent porphyria harboring a novel hydroxymethylbilane synthase gene mutation (p.Arg173Trp).

Neurological and Neuropsychiatric Impacts of COVID-19 Pandemic.

BACKGROUND: Albeit primarily a disease of respiratory tract, the 2019 coronavirus infectious disease (COVID-19) has been found to have causal association with a plethora of neurological, neuropsychiatric and psychological effects. This review aims to analyze them with a discussion of evolving therapeutic recommendations. METHODS: PubMed and Google Scholar were searched from 1 January 2020 to 30 May 2020 with the following key terms: "COVID-19", "SARS-CoV-2", "pandemic", "neuro-COVID", "stroke-COVID", "epilepsy-COVID", "COVID-encephalopathy", "SARS-CoV-2-encephalitis", "SARS-CoV-2-rhabdomyolysis", "COVID-demyelinating disease", "neurological manifestations", "psychosocial manifestations", "treatment recommendations", "COVID-19 and therapeutic changes", "psychiatry", "marginalised", "telemedicine", "mental health", "quarantine", "infodemic" and "social media". A few newspaper reports related to COVID-19 and psychosocial impacts have also been added as per context. RESULTS: Neurological and neuropsychiatric manifestations of COVID-19 are abundant. Clinical features of both central and peripheral nervous system involvement are evident. These have been categorically analyzed briefly with literature support. Most of the psychological effects are secondary to pandemic-associated regulatory, socioeconomic and psychosocial changes. CONCLUSION: Neurological and neuropsychiatric manifestations of this disease are only beginning to unravel. This demands a wide index of suspicion for prompt diagnosis of SARS-CoV-2 to prevent further complications and mortality.

Les impacts neurologiques et neuropsychiatriques d'une infection à la COVID-19. CONTEXTE: Bien qu'il s'agisse principalement d'une maladie des voies respiratoires, la maladie infectieuse à coronavirus apparue en 2019 (COVID-19) s'est avérée avoir un lien de causalité avec une pléthore d'impacts d'ordre neurologique, neuropsychiatrique et psychologique. Cette étude entend donc analyser ces impacts tout en discutant l'évolution des recommandations thérapeutiques se rapportant à cette maladie. MÉTHODES: Les bases de données PubMed et Google Scholar ont été interrogées entre les 1er janvier et 30 mai 2020. Les termes clés suivants ont été utilisés : « COVID-19 ¼, « SRAS ­ CoV-2 ¼, « Pandémie ¼, « Neuro ­ COVID ¼, « AVC ­ COVID ¼, « Épilepsie ­ COVID ¼, « COVID ­ encéphalopathie ¼, « SRAS ­ CoV-2 ­ encéphalite ¼, « SRAS ­ CoV-2 ­ rhabdomyolyse ¼, « COVID ­ maladie démyélinisante ¼, « Manifestations neurologiques ¼, « Manifestations psychosociales ¼, « Recommandations thérapeutiques ¼, « COVID-19 et changement thérapeutiques ¼, « Psychiatrie ¼, « Marginalisés ¼, « Télémédecine ¼, « Santé mentale ¼, « Quarantaine ¼, « Infodémique ¼ et « Médias sociaux ¼. De plus, quelques articles de journaux relatifs à la pandémie de COVID-19 et à ses impacts psychosociaux ont également été ajoutés en fonction du contexte. RÉSULTATS: Il appert que les manifestations neurologiques et neuropsychiatriques des infections à la COVID-19 sont nombreuses. Les caractéristiques cliniques d'une implication des systèmes nerveux central et périphérique sautent désormais aux yeux. Ces caractéristiques ont fait l'objet d'une brève analyse systématique à l'aide de publications scientifiques. En outre, la plupart des impacts d'ordre psychologique de cette pandémie se sont révélés moins apparents que les changements réglementaires, socioéconomiques et psychosociaux. CONCLUSION: Les manifestations neurologiques et neuropsychiatriques de cette maladie ne font que commencer à être élucidées. Cela exige donc une capacité accrue de vigilance en vue d'un diagnostic rapide, et ce, afin de prévenir des complications additionnelles et une mortalité accrue.

Using Unsupervised Machine Learning to Identify Age- and Sex-Independent Severity Subgroups Among Patients with COVID-19: Observational Longitudinal Study.

BACKGROUND: Early detection and intervention are the key factors for improving outcomes in patients with COVID-19. OBJECTIVE: The objective of this observational longitudinal study was to identify nonoverlapping severity subgroups (ie, clusters) among patients with COVID-19, based exclusively on clinical data and standard laboratory tests obtained during patient assessment in the emergency department. METHODS: We applied unsupervised machine learning to a data set of 853 patients with COVID-19 from the HM group of hospitals (HM Hospitales) in Madrid, Spain. Age and sex were not considered while building the clusters, as these variables could introduce biases in machine learning algorithms and raise ethical implications or enable discrimination in triage protocols. RESULTS: From 850 clinical and laboratory variables, four tests-the serum levels of aspartate transaminase (AST), lactate dehydrogenase (LDH), C-reactive protein (CRP), and the number of neutrophils-were enough to segregate the entire patient pool into three separate clusters. Further, the percentage of monocytes and lymphocytes and the levels of alanine transaminase (ALT) distinguished cluster 3 patients from the other two clusters. The highest proportion of deceased patients; the highest levels of AST, ALT, LDH, and CRP; the highest number of neutrophils; and the lowest percentages of monocytes and lymphocytes characterized cluster 1. Cluster 2 included a lower proportion of deceased patients and intermediate levels of the previous laboratory tests. The lowest proportion of deceased patients; the lowest levels of AST, ALT, LDH, and CRP; the lowest number of neutrophils; and the highest percentages of monocytes and lymphocytes characterized cluster 3. CONCLUSIONS: A few standard laboratory tests, deemed available in all emergency departments, have shown good discriminative power for the characterization of severity subgroups among patients with COVID-19.

Autonomic dysfunction heralding acute motor axonal neuropathy in COVID-19.

Albeit primarily a disease of respiratory tract, the 2019 coronavirus infectious disease (COVID-19) has been found to have causal association with a plethora of neurological and neuropsychological effects. However, the pathogenesis of COVID-19-induced neurological manifestations is still in its infancy. Autonomic dysfunction preceding acute motor axonal neuropathy (AMAN) has not been yet associated with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection. We herein report one patient who developed acute onset dysautonomia heralding AMAN during SARS-CoV-2 infection.

The disease presentation of Moyamoya angiopathy in Eastern India.

INTRODUCTION: Clinical spectrum of Moyamoya angiopathy (MMA) differs across populations with different ethnicity. This study, the largest one done among Indian population was undertaken to assess clinico-radiological profile of MMA patients in eastern India. METHODS: A single centre cross-sectional study was undertaken among 76 MMA cases. Each patient was evaluated for epidemiological, clinical and radiological characteristics. SPSS 25 was used for statistical analysis. P < 0.05 was taken as statistically significant. RESULTS: 36 (47.4%) were children without gender preponderance. There were female predominance among adults (male:female = 1:2.33). Mean age at onset of first neurological symptoms for children was 4.2 ± 2.0years, followed by 34.9 ± 58.2months of latency with final diagnosis at the mean age of 7.4 ± 3.5years. For adults, mean age of onset of first neurological symptoms was 31.5 ± 12.3years, followed by 14.7 ± 41.7months time gap and diagnosed at the mean age of 33.5 ± 12.5years. There was a statistically significant difference between child and adult regarding the diagnostic latency (p = 0.035). Fixed motor weakness (FMW) was the predominant symptom across the whole disease course. Among children predominant first neurological symptom was fixed motor weakness (FMW) (52.8%), followed by seizures (22.2%). FMW was predominant (55%) first neurological complaint, followed by headache (22.5%) among adults. Seizure was more prevalent among children both as first (p = 0.002) and presenting symptom at the time of diagnosis (p = 0.048). Over the course of the disease seizure was more common among children (p = 0.001), while headache was more common among adults (p = 0.017). Recurrence of symptoms was more common among children (p = 0.059). Infarcts were more common among children (91.7%) than adults (72.5%), while hemorrhage was seen only among adults (25%) (p = 0.004). Isolated cerebral cortex was involved more commonly among children (59.4%) than adults (36.1%), while isolated subcortical involvement was seen only among adults (19.4%) (p = 0.016). Majority of the MMA cases were of Suzuki stage 4 (39.5%) and 5 (27.6%). Brain atrophy was associated with diagnostic latency (p = 0.009). CONCLUSION: Indian Moyamoya presents similar to disease presentation in Caucasian and Japanese patients. It is a frequently overlooked cause of stroke in young, often with various non-motor presentations, failure to recognize which leads to delay in diagnosis. Radiological burden disproportionate to number of acute vascular events, with subtle neurological manifestations like headache or seizure, often with cognitive decline, should raise suspicion of MMA.

Impact of COVID -19 on children: special focus on the psychosocial aspect.

Although medical literature shows that children are minimally susceptible to 2019-Corona virus disease (COVID-19), they are hit the hardest by psychosocial impact of this pandemic. Being quarantined in homes and institutions may impose greater psychological burden than the physical sufferings caused by the virus. School closure, lack of outdoor activity, aberrant dietary and sleeping habits are likely to disrupt children's usual lifestyle and can potentially promote monotony, distress, impatience, annoyance and varied neuropsychiatric manifestations. Incidences of domestic violence, child abuse, adulterated online contents are on the rise. Children of single parent and frontline workers suffer unique problems. The children from marginalized communities are particularly susceptible to the infection and may suffer from extended ill-consequences of this pandemic, such as child labor, child trafficking, child marriage, sexual exploitation and death etc. Parents, pediatricians, psychologists, social workers, hospital authorities, government and non-governmental organizations have important roles to play to mitigate the psychosocial ill-effects of COVID-19 on children and adolescents. To provide the basic amenities, social security, medical care, and to minimize the educational inequities among the children of the different strata of the society are foremost priorities.