Relapsing lumbosacral myeloradiculitis: An unusual presentation of MOG antibody disease.

Myelin oligodendrocyte glycoprotein antibody (MOG-Ab) seropositivity is being increasingly reported in diverse demyelinating syndromes with monophasic and relapsing presentations. Conus myelitis is described as a typical feature of MOG-Ab seropositivity. However, the association with lumbosacral radiculitis in this disease is not well-recognized. Here, we report a patient with relapsing MOG-Ab disease who presented clinically and radiologically with a relapsing lumbosacral myeloradiculopathy. This presentation raises the diagnostic possibilities of chronic infections, sarcoidosis, and neoplastic infiltration. This case illustrates the need to consider MOG-Ab disease as one of the differential diagnosis for a non-compressive lumbosacral myeloradiculopathy.

Status epilepticus related to pregnancy: Devising a protocol for use in the intensive care unit.

BACKGROUND: Status epilepticus (SE) related to pregnancy is rare and carries a significant risk to both the mother and the fetus. OBJECTIVES: We conducted this study to devise a protocol for the management of SE related to pregnancy in a cohort of female patients admitted with SE during pregnancy. MATERIALS AND METHODS: All women who developed SE related to pregnancy (gestation, labor, and puerperium) between January 2000 and December 2016 were included. Data was collected using a structured proforma. RESULTS: There were 17 women who had SE related to pregnancy, of whom 10 had refractory SE. The various causes of refractory SE were eclampsia (N = 2), posterior reversible encephalopathy syndrome (PRES) due to various causes other than eclampsia (N = 3), cortical venous thrombosis (CVT) [N = 3], subarachnoid hemorrhage (SAH) [N = 1], and N-methyl-D-aspartate (NMDA) receptor antibody-mediated encephalitis (N = 1). Six out of 10 women with refractory SE (60%) and five out of 10 fetuses (50%) had a good outcome. CONCLUSION: There is a dearth of literature with regards to SE related to pregnancy and little or no guidelines exist for its management. Awareness about the diverse etiologies other than eclampsia is important. A protocol-based approach to the diagnosis and management of SE is necessary to ensure best outcomes.

A hospital-based registry of Creutzfeldt-Jakob disease: Can neuroimaging serve as a surrogate biomarker?

AIM: This study addresses the role of neuroimaging in addition to the available clinical criteria for Creutzfeldt-Jakob disease (CJD) and its impact on its diagnosis in the absence of cerebrospinal fluid (CSF) biomarkers and tissue-based approaches. METHODS: From a tertiary referral center in the city of Trivandrum, Kerala, South India, patients with rapidly progressive dementia (RPD) who fulfilled the World Health Organization (WHO) 1998 diagnostic criteria for CJD were included in this study. Their electrophysiological-clinical-radiological data were retrospectively studied and the results were analyzed. The other biomarkers of CJD were not assessed in the study. RESULTS: Of the 96 patients with RPD, 41 patients were diagnosed as having a 'probable' and 'possible' CJD using the WHO 1998 diagnostic criteria between 2000 and 2013. While 92% patients satisfied the University of California, San Francisco (UCSF) 2007 and European magnetic resonance imaging (MRI)-CJD consortium criteria (2009), only 73% satisfied the MRI components of these criteria in addition to the more stringent, proposed UCSF MRI criteria (2011). The latter required the presence of diffusion weighted imaging abnormalities more than fluid attenuation inversion recovery abnormalities in the cortical and subcortical regions for the establishment of diagnosis on MRI of 'definite' (53.7%) and 'probable' CJD (19.5%). CONCLUSIONS: Significant heterogeneity exists in the presentation of CJD with only 48.8% patients simultaneously satisfying the MRI and electrophysiological criteria, suggesting that the diagnosis is impacted by these components in any of the currently prevalent criteria. With 27% of the cohort not meeting the radiological criteria, CSF and molecular biomarker assays may be reserved for MRI negative patients with suspected CJD and in atypical presentations.

Clinical Spectrum of Biopsy Proven Mitochondrial Myopathy.

Objectives: Clinical spectrum of mitochondrial myopathy extends beyond chronic progressive external ophthalmoplegia (CPEO). While information on encephalomyopathies is abundant, clinical data on predominant myopathic presentation of mitochondrial disorders are lacking. Materials and Methods: Clinical, electrophysiological, biochemical, and follow-up data of patients with predominant myopathic presentation and muscle biopsy confirmed primary mitochondrial myopathy was obtained. We excluded known syndromes of mitochondrial cytopathies and encephalomyopathies. Results: Among 16 patients, 7 had CPEO, 4 had CPEO with limb-girdle muscle weakness (LGMW), and 5 had isolated LGMW. Systemic features included seizures with photosensitivity (n = 3), diabetes (n = 1), cardiomyopathy (n = 1), and sensorineural hearing loss (n = 1) and were more common in isolated LGMW. Elevated serum creatine kinase (CK) and lactate levels and electromyography (EMG) myopathic potentials were more frequent with LGMW. During follow-up, LGMW had more severe progression of weakness. Conclusion: We identified three subsets of mitochondrial myopathy with distinct clinical features and evolutionary patterns. Isolated LGMW was seen in 30% of patients and would represent severe end of the spectrum.

Resting-State Functional Connectivity in Relapsing-Remitting Multiple Sclerosis with Mild Disability: A Data-Driven, Whole-Brain Multivoxel Pattern Analysis Study.

Background: Multivoxel pattern analysis (MVPA) has emerged as a powerful unbiased approach for generating seed regions of interest (ROIs) in resting-state functional connectivity (RSFC) analysis in a data-driven manner. Studies exploring RSFC in multiple sclerosis have produced diverse and often incongruent results. Objectives: The aim of the present study was to investigate RSFC differences between people with relapsing-remitting multiple sclerosis (RRMS) and healthy controls (HC). Methods: We performed a whole-brain connectome-wide MVPA in 50 RRMS patients with expanded disability status scale ≤4 and 50 age and gender-matched HCs. Results: Significant group differences were noted in RSFC in three clusters distributed in the following regions: anterior cingulate gyrus, right middle frontal gyrus, and frontal medial cortex. Whole-brain seed-to-voxel RSFC characterization of these clusters as seed ROIs revealed network-specific abnormalities, specifically in the anterior cingulate cortex and the default mode network. Conclusions: The network-wide RSFC abnormalities we report agree with the previous findings in RRMS, the cognitive and clinical implications of which are discussed herein. Impact statement This study investigated resting-state functional connectivity (RSFC) in relapsing-remitting multiple sclerosis (RRMS) people with mild disability (expanded disability status scale ≤4). Whole-brain connectome-wide multivoxel pattern analysis was used for assessing RSFC. Compared with healthy controls, we were able to identify three regions of interest for significant differences in connectivity patterns, which were then extracted as a mask for whole-brain seed-to-voxel analysis. A reduced connectivity was noted in the RRMS group, particularly in the anterior cingulate cortex and the default mode network regions, providing insights into the RSFC abnormalities in RRMS.

World Psychiatric Association-Asian Journal of Psychiatry Commission on Psychiatric Education in the 21st century.

Psychiatric practice faces many challenges in the first quarter of 21st century. Society has transformed, as have training requirements and patient expectations, underlining an urgent need to look at educational programmes. Meanwhile, awareness has grown around psychiatric disorders and there are evolving workforce trends, with more women going to medical school and specialising in psychiatry. Trainee psychiatrists carry different expectations for work-life balance and are increasingly becoming conscious of their own mental health. A tendency to see health as a commodity and the litigious nature of society has elicited additional pressures for healthcare professionals. Cartesian mind-body dualism has created further complexity and this can often be frustrating for patients and care-partners alike. In many cultures across Asia and beyond, patients can present with physical symptoms to express underlying psychological distress with increasing physical investigations. Simultaneously, in various countries, a shift from asylums to community-based interventions and then home treatments have changed psychiatric care in remarkable ways. These changes have added to pressures faced by mental healthcare professionals. However, trainees and other mental healthcare professionals continue to receive similar training as they did a generation ago. The tensions and differences in ideology/orientation between different branches of psychiatry have made responses to patient needs challenging. Recognising that it is difficult to predict the future, this World Psychiatric Association-Asian Journal of Psychiatry Commission makes recommendations that could help institutions and individuals enhance psychiatric education. This Commission draws from existing resources and recent developments to propose a training framework for future psychiatrists.

Late-onset Boucher-Neuhäuser Syndrome (late BNS) associated with white-matter changes: a report of two cases and review of literature.

Boucher-Neuhäuser syndrome (BNS) is rare autosomal recessive disease, characterised by cerebellar ataxia, hypogonadotropic hypogonadism and chorio-retinal degeneration. The authors report a family (brother, 22 years and sister 24 years) with late-onset BNS (>10 years). They had subnormal intelligence; the cerebellar ataxia was progressive over 2 years with early functional dependence. Puberty was attained in a brother with testosterone injections, while the girl had primary amenorrhoea. There were no associated visual complaints. They both had diffuse periventricular white-matter hyperintensities in cerebral cortex and diffuse cerebellar atrophy in the MRI.

Extraoccipital photoparoxysmal response in a case of focal encephalitis.

Photoparoxysmal response (PPR) is commonly associated with idiopathic generalised epilepsies. Most of the focal events induced by intermittent photic stimulation (IPS) are reported to be of occipital origin. Only six temporal lobe epilepsy patients have been reported in the literature with focal PPR at extraoccipital sites. We report a four-year-old girl with possible encephalitis who presented initially with epilepsia partialis continua of limbs on the right side. Interictally, she had left centro-parietal periodic lateralized epileptiform discharges (PLEDs). She responded to medical treatment and was free of seizures and motor and cognitive deficits at six months follow-up. Repeat EEG at follow-up showed left centro-parietal spikes accentuated by IPS. This is the first report of an extraoccipital, extratemporal focus showing PPR. The possible mechanism of PPR from this fronto-parietal epileptogenic focus is discussed.

Clinico-radiological correlation and surgical outcome of idiopathic spinal cord herniation: A single centre retrospective case series.

Context: Idiopathic spinal cord herniation (ISCH) remains an obscure, under recognised but potentially treatable entity among the etiologies of compressive myelopathy.Findings: Here, we present a retrospective case series of eight patients of ISCH with their clinical features, imaging findings and long-term follow up data along with a relevant review of the literature. Mean age at presentation was 36 years with the duration of symptoms ranging from two months to more than thirty years. Contrary to existing data, only two patients in our series had the classical presentation of Brown-Sequard syndrome (n = 2). The clinical spectrum of the presentation was broad with pure spastic quadriparesis (n = 3), girdle sensation (n = 1) and radiculopathy (n = 1), the latter presentation has been unreported for ISCH. The typical radiological picture was seen in all patients. All except one patient was managed conservatively. In the one patient who underwent bilateral dentate ligament excision, there was mild functional improvement on long-term follow-up despite a definite worsening of the radiological picture. Five of the patients had a long-term follow-up with no clinically or functionally significant worsening.Clinical relevance: The current study highlights the wide clinical spectrum and relatively stable natural course of ISCH and reports on hitherto undescribed presentation as radiculopathy.

Determinants of Suboptimal Outcome Following Thymectomy in Myasthenia Gravis.

BACKGROUND: Response to thymectomy in myasthenia gravis (MG) is influenced by various patient-, disease-, and therapy-related factors. METHODS: Retrospective analysis of 128 patients with MG who underwent maximal thymectomy over 15 years was done to identify the determinants of suboptimal clinical outcome. RESULTS: Among the 128 patients, 62 (48.4%) were females with a mean age of 38.97 (12.29) years. Thymomatous MG occurred in 66 (51.6%). Overall improvement from preoperative status was noted in 88 (68.8%) patients after mean follow-up of 51.68 (33.21) months. The presence of thymoma was the major predictor of suboptimal clinical outcome (P = 0.001), whereas age, gender, preoperative disease severity, and seropositive status did not attain significance. Patients with better outcome had received higher steroid dose preoperatively (P = 0.035). CONCLUSIONS: Suboptimal response after thymectomy occurred in one-third of MG patients, more commonly with thymomatous MG. Relationship of preoperative steroid therapy to remission merits evaluation.

Clinical and Genetic Profile of Autism Spectrum Disorder-Epilepsy (ASD-E) Phenotype: Two Sides of the Same Coin!

The clinical phenotype of autism spectrum disorder and epilepsy (ASD-E) is a common neurological presentation in various genetic disorders, irrespective of the underlying pathophysiological mechanisms. Here we describe the demographic and clinical profiles, coexistent neurological conditions, type of seizures, epilepsy syndrome, and EEG findings in 11 patients with ASD-E phenotype with proven genetic etiology. The commonest genetic abnormality noted was CDKL5 mutation (3), MECP2 mutation (2), and 1p36 deletion (2). The median age of onset of clinical seizures was 6 months (range, 10 days to 11 years). The most common seizure type was focal onset seizures with impaired awareness, observed in 7 (63.6%) patients followed by epileptic spasms in 4 (30.8%), generalized tonic-clonic and atonic seizures in 3 (27.3%) patients each and tonic seizures in 2 (18.2%) patients and myoclonic seizures in 1 (9.1%) patient. Focal and multifocal interictal epileptiform abnormalities were seen in 6 (54.6%) and 5 (45.5%) patients, respectively. Epileptic encephalopathy and focal epilepsy were seen in 7 (63.6%) and 4 (36.4%) patients, respectively. The diagnostic yield of genetic testing was 44% (11 of 25 patients) and when variants of unknown significance and metabolic defects were included, the yield increased to 60% (15 of 25 patients). We conclude that in patients with ASD-E phenotype with an underlying genetic basis, the clinical seizure type, epilepsy syndrome, and EEG patterns are variable. Next-generation exome sequencing and chromosomal microarray need to be considered in clinical practice as part of evaluation of children with ASD-E phenotype.

Congenital myasthenic syndrome: Ten years clinical experience from a quaternary care south-Indian hospital.

BACKGROUND: To ascertain the frequency, clinical spectrum and outcome of congenital myasthenic syndrome (CMS) patients who reported to the neuromuscular division of our quaternary medical center during the past ten years. METHODS: We performed a retrospective analysis of all the CMS patients who reported to us during the study period. RESULTS: Twenty-one patients of CMS attended our quaternary hospital over the past ten years. The median follow-up was 24 (IQR: 16.5-67.3) months. All the patients showed an overall improvement in the last follow up. The diagnosis of CMS could be genetically confirmed in seven cases. Four patients had COLQ mutation, two had CHRNε mutation and one had MUSK mutation. All the cases of COLQ mutation and one case of MUSK mutation had a limb-girdle (LG) presentation. Our study and review of literature imply that CMS should be suspected in cases of seronegative myasthenia gravis cases if the onset is at less than 20 years and strongly so if the onset is within the first two years of life. In addition, a positive family history, delayed motor milestones, and a poor response to immune-modulators should be actively sought for as indicators of CMS.

Clinico-Genotypic Correlation: Recurrent Attacks of Paralysis and Skeletal Muscle SCN4A Mutation (p.Ile693Thr).

Skeletal sodium channel mutations have been known to demonstrate a multitude of clinical manifestations of which one such commonly known entity is paramyotonia congenita. We describe the clinical features of proband in our case report and the various phenotypic manifestations described with the mentioned mutation from different centres. Our case serves to highlight the heterogeneity that exists in SCN4A mutations and the possible effect of other genetic/environmental factors in determining the final phenotype.

An unusual presentation of scleromyxedema as inflammatory myopathy.

Scleromyxedema is a rare cutaneous mucinosis with frequent extracutaneous manifestations. Myopathy in scleromyxedema is a poorly recognized syndrome among neurologists and can mimic idiopathic and connective tissue disease-associated inflammatory myopathy. Diagnosis is suspected by the characterization of the skin lesions and clinched by skin and muscle biopsies. Here, we report a patient with scleromyxedema and myopathy with the characteristic histopathological feature of mucin deposition in skin biopsy. Her muscle biopsy showed a picture consistent with scleromyxedema myopathy with vacuolar and inflammatory changes. The association with paraproteinemia, propensity to life-threatening central nervous system disease and good response to intravenous immunoglobulin necessitate the accurate diagnosis of this condition.

Electroneurography and Advanced Neuroimaging Profile in Pediatric-onset Metachromatic Leukodystrophy.

CONTEXT: Metachromatic leukodystrophy (MLD) is a rare autosomal-recessive disorder characterized by demyelination of central and peripheral nervous system. There is scarcity of literature on the electrophysiological aspects of peripheral nerves and the advanced neuroimaging findings in MLD. AIM: The aim was to study the nerve conduction parameters and advanced neuroimaging findings in patients with MLD. MATERIALS AND METHODS: This study is a retrospective analysis conducted, between 2005 and 2016, of 12 patients who had biochemical, histopathological, or genetic confirmation of MLD and disease onset before 18 years of age. The clinical, electroneurography, and the advanced neuroimaging findings were reviewed and analyzed. STATISTICAL ANALYSIS: The data were presented as percentages or mean ± standard deviation as defined appropriate for qualitative and quantitative variables. RESULTS: Mean age of onset was 4.84 (±4.60) years and seven patients were males. Eight patients had juvenile MLD and four had late infantile MLD. Clinical presentation of psychomotor regression was more common in infantile MLD (75%), whereas gait difficulty (62.5%) and cognitive impairment (37.5%) were more frequent in juvenile MLD. Nerve conduction study (NCS) revealed diffuse demyelinating sensorimotor peripheral neuropathy in 9 (75%) patients. One patient had a rare presentation with conduction blocks in multiple nerves with contrast enhancement of cauda equina. Diffusion restriction involving periventricular and central white matter was seen in five patients and bilateral globus pallidi blooming was noted in three patients. CONCLUSION: This study highlights the utility of NCS and advanced magnetic resonance imaging sequences in the diagnosis of MLD.