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Byline: Arjimand. Yaqoob, Waseem. Dar, Adnan. Raina, Zubair. Khuja, Amit. Chandra, Immia. Bukhari, Hilal. Ganie, Maqbool. Wani, Ravouf. Asimi Cerebrotendinous xanthomatosis (CTX) is a treatable autosomal recessive disorder with varied [...]

Byline: Arjimand. Yaqoob, Waseem. Dar, Maqbool. Wani, Ravouf. Asimi, Adnan. Raina, Hilal. Ganie, Amit. Chandra Dear Editor Leucine-rich glioma-inactivated 1 (LGI1) antibody encephalitis is one of the subtypes of the [...]

Byline: Arjimand. Yaqoob, Waseem. Dar, Adnan. Raina, Amit. Chandra, Zubair. Khawaja, Immia. Bukhari, Hilal. Ganie, Maqbool. Wani, Ravouf. Asimi Moebius syndrome presents as congenital, nonprogressive unilateral or bilateral facial and [...]

Byline: Waseem. Dar, Maqbool. Wani, Arjimand. Yaqoob, Adnan. Raina, Hilal. Ganie, Zahoor. Parray, Amit. Chandra, Ravouf. Asimi Dear Sir, Here we present two cases of hearing loss secondary to neurobrucellosis [...]

Background: The spectrum of neurological diseases encompasses a large number of disorders, including neuromuscular disorder (NMDs), ataxias, and muscular dystrophies. A detailed clinical examination, followed by electromyography and muscle biopsy, is a traditional diagnostic approach. However, it is never helpful in the identification of the subgroups of either neuropathies or muscular dystrophies apart from being a painful procedure. Aim: The present study was to assess the diagnostic yield of next-generation sequencing (NGS) in the diagnosis of neurological disorders. Materials and Methods: It was a cross-sectional study where consecutive neurological patients for whom NGS was done were included. These variants were classified as pathogenic/likely pathogenic, variants of uncertain significance (VUS), likely benign and benign. Results: Among the 45 cases included, 31 variants were identified in 30 genes, and in 15 patients, no variants were detected. Among 31 variants, 14 were previously reported for the causal of neurological disorder, including NMD, whereas 16 were novel variants (14 missense, 1 frameshift, and 1 splice donor). A definite molecular diagnosis was achieved in 21 cases that were either pathogenic/likely pathogenic, whereas 9 came to be VUS; however, the clinical manifestations correlated well. The phenotype-based sequencing showed a high diagnostic yield of 66% in the present study. Conclusion: NGS improves diagnostic efficiency with quicker and earlier diagnosis. In addition, it is a reliable and noninvasive technique that is effective in the detection of single nucleotide polymorphisms and small deletions. [ABSTRACT FROM AUTHOR]

Background and Aim: The World Health Organization estimated that 15 million people throughout the world suffer stroke every year. Only 5%-10% of all acute ischemic stroke (AIS) patients presenting to emergency departments (EDs) are eligible for and receive thrombolytic therapy. This study was conducted to assess and compare the efficacy and safety profile of thrombolysis with tenecteplase (TNK) with that of alteplase among patients with AIS who were eligible for thrombolysis. Materials and Methods: This was a hospital-based prospective observational study. All the patients who presented with AIS within the time window period of =4.5 h to ED of Sher-i-Kashmir Institute of Medical Sciences, Soura, from September 2018 to March 2021, were screened for eligibility of thrombolysis by TNK. A total of 76 patients were enrolled; among which 42 were thrombolysed with TNK and 34 patients were thrombolysed with alteplase. These data were compared with departmental data of patients thrombolysed by alteplase during July 2015-July 2017. Inclusion and exclusion criteria used in the study were as per the American Heart Association/American Stroke Association guidelines for thrombolysis. Efficacy and safety were assessed and compared of the two drugs. Results: After 24 h of thrombolysis, early neurological improvement occurred in 62% of TNK patients compared to only 35% of patients from alteplase group, which was significant statistically (P < 0.05). An excellent functional outcome, defined as the Modified Rankin Scale (mRS) of 0-1 at 3 months of discharge, was seen in 67.6% of TNK and 48.5% of alteplase group. A poor recovery, defined as the mRS of 4-6 at 3 months of follow-up, was seen in 16% and 21% in TNK and alteplase group patients, respectively. Conclusion: TNK appears to be characterized by a better safety and efficacy profile than alteplase; however, further multicenter studies and randomized controlled trials are required to confirm our preliminary findings. [ABSTRACT FROM AUTHOR]

Byline: Irfan. Shah, Ravouf. Asimi, Yuman. Kawoos, Mushtaq. Wani, Maqbool. Wani, Sheikh. Nawaz, Atif. Rasool, Adnan. Raina Sir, Meningitis retention syndrome (MRS) is a very rare syndrome mainly reported to [...]

Introduction: Limited data is available on prevalence of extrapancreatic infection, its influence on outcome of pancreatitis. Objectives: To assess the prevalence of extra-pancreatic infections in acute pancreatitis, identify risk factors for development of such infections and influence of extrapancreatic infections on outcome of pancreatitis. Methodology: Patients of acute pancreatitis admitted from June 2013 to July 2015 were recruited in the study. The patients who developed extra-pancreatic infection formed the study group while patients who didn't develop infections were included in the control group. Both groups were followed and their final outcome was compared. Results: A total of 350 patients comprising of 158 cases and 192 controls were studied. Prevalence of extra pancreatic infections was found in 41.5% with Urinary tract infections (UTI)(14.4 followed by Biliary (10.0%), pulmonary (8.4%), Pulmonary and UTI (3.7%),Injection site infections (2.1%). Predisposing factors for development of extra pancreatic infections and subsequent outcome of acute pancreatitis was found to be influenced by duration of hospital stay (p<0.001), etiology of acute pancreatitis and comorbidities especially Diabeties mellitus (p<0.001). Conclusions: Early detection and proper treatment of infections will definitely improve outcome of acute pancreatitis with infections. [ABSTRACT FROM AUTHOR]

The article presents a case study of a 20-year-old, unmarried male presented to the emergency department with complaints of severe throbbing headache, neck stiffness, and vomiting for six days. He underwent a series of examinations and was diagnosed to have meningitis retention syndrome (MRS) that is associated with with herpes simplex virus type 2 (HSV-2) meningitis following the development of urinary retention that was administered by catheterization.

Objectives: The study was aimed to assess the epidemiological profile and patient characteristics, various morphological patterns of posterior reversible encephalopathy syndrome (PRES) on MRI and various pathophysiological mechanisms on MR perfusion. Methods: It was a prospective and observational study done over a total of 40 patients. Standard sequences included T1 and T2-weighted sequences, FLAIR, DWI, SWI and MR perfusion. Results: Females were affected predominantly with F:M ratio of 12:1. The commonest age group affected was between 20-40 years. The most common symptom was headache. The commonest etiology being pregnancy induced(37.5%). Hypertension was reported in 70%, out of which 37.5% included pregnancy induced hypertension. The commonest region involved was occipital lobe seen in 85% of patients. Atypical PRES was seen in 42.5% of patients in the form of involvement of atypical locations; basal ganglia 10%, thalami 2.5% and cerebellum 2.5%; diffusion restriction 12.5% and hemorrhage 22.5%, out of which 10% had subarachnoid hemorrhage, 10% has intraparenchymal hematoma and 2.5% had minute focal hemorrhage. rCBV and rCBF was decreased in 82.5% of patients and unchanged in 12.5% of the total number of patients supporting the hypoperfusion theory. Conclusion: PRES predominantly involves female, hypertension is seen in most of the patients. The commonest lobes involved are the occipital and parietal lobes; however the incidence of atypical PRES is also seen in a significant number of patients. The basic pathophysiological mechanism is hypoperfusion. [ABSTRACT FROM AUTHOR]

Background & Objectives: Polycystic ovarian syndrome (PCOS) is a common cause of infertility in women of reproductive age group. Antiepileptic drugs, notably sodium valproate, has been linked to PCOS in various studies. Such an association has significant implications given rampant use of sodium valproate, particularly in such women. The purpose of the study was to compare the incidence of PCOS in women taking valproate or phenytoin monotherapy with healthy controls. Methods: Thirty five women on valproate monotherapy and 28 women on phenytoin were compared with 43 healthy women. Results: Mean BMI was 24.46 kg/m² (SD 4.19) in valproate group, 23.37 kg/m² (SD 3.67) in phenytoin group and 22.12 kg/m² (SD 3.29) in control group. Menstrual dysfunction was seen in 40% patients in valproate group which was significant as compared to phenytoin group (14%) and control group (12%). Polycystic ovaries were seen on ultrasonography in 37% patients in valproate group, 18% in phenytoin group and 14% in control group. Serum testosterone, prolactin, LH and LH/FSH ratio were significantly higher in valproate group as compared to Control group (p value < 0.05). Twenty six percent patients in valproate group had PCOD while as 14% in the Phenytoin group and 7% in Control group were diagnosed as PCOD. Conclusion: Women with epilepsy taking sodium valproate for seizure control have higher prevalence of menstrual dysfunction and PCOS and hence need closer follow up and health advice. [ABSTRACT FROM AUTHOR]

3 Cerebellar ataxia occurring post Covid 19 infection has been rarely reported in literature further adding to gamut of neurological involvement of Covid 19 infection. 197 Neurology Asia 2021; 26(1): 197 - 198 Para-infectious cerebellar ataxia post Covid 19 infection A 65 year old non-smoker hypertensive and diabetic male on permanent pacemaker (for complete heart block 5 years back) was admitted to our hospital for severe covid pneumonia and RT-PCR was positive. 4,5 Since, in our patient, ataxia occurred after Covid 19 infection had resolved and CSF was normal, the cerebellar involvement was possibly immune mediated in nature. [Extracted from the article]