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Background SLC25A19 gene mutations cause Amish congenital lethal microcephaly and bilateral striatal necrosis with polyneuropathy. We are reporting two cases of bilateral striatal necrosis with polyneuropathy due to SLC25A19 gene mutations. Methods A 36-month-old boy and a 5-year-old girl, unrelated, presented with recurrent episodes of flaccid paralysis and encephalopathy following nonspecific febrile illness. Examination showed dystonia and absent deep tendon reflexes. Results Nerve conduction studies showed an axonal polyneuropathy. Magnetic resonance imaging (MRI) of the brain in both cases showed signal changes in the basal ganglia. Next-generation sequencing revealed a novel homozygous missense variation c.910G>A (p.Glu304Lys) in the SLC25A19 gene in the boy and a homozygous mutation c.869T > A (p. Leu290Gln) in the SLC25A19 gene in the girl. Mutations were validated by Sanger sequencing, and carrier statuses of parents of both children were confirmed. Both children improved with thiamine supplementation. Conclusion If any child presents with recurrent encephalopathy with flaccid paralysis, dystonia, and neuropathy, a diagnosis of bilateral striatal necrosis with polyneuropathy due to SLC25A19 mutations should be considered and thiamine should be initiated. [ABSTRACT FROM AUTHOR]

Introduction: Guillain-Barre syndrome (GBS) is post-infectious autoimmune polyradiculopathy which characteristically presents with a monophasic illness with CSF albumino-cytological dissociation with partial or complete recovery. The incidence of GBS is about 1 to 2/100,000 per year.[1] Subtypes are described based on electrophysiological patterns, the most common being acute inflammatory demyelinating polyneuropathy (AIDP) and rarer ones being acute motor axonal neuropathy (AMAN), and acute motor and sensory axonal neuropathy (AMSAN). Tuberculosis is prevalent in India with various neurological manifestation including tuberculoma, brain abcess, pott's spine, and radiculomyelopathy.[2] Five cases have been published of tuberculosis and GBS.[3],[4],[5],[6],[7] The main underlying pathophysiological mechanism is aberrant immune activation due to molecular mimicry against ganglioside in myelin. Although tuberculosis is mainly T-cell-mediated chronic disease, still there are cases reported with tuberculosis with GBS. Here we are going to present four cases of pulmonary tuberculosis presented with GBS. Materials and Methods: This study describes clinical profile of four patients who presented with concomitant pulmonary tuberculosis and GBS over a period of 4 years in a tertiary hospital. Diagnosis was made according to Brighton criteria and alternative diagnosis were ruled out by clinical examination, serological markers, and MRI imaging of the spine. All patient underwent thorough investigation including HIV 1, 2, anti-CMV, anti-EBV to rule out other possible triggers of GBS, NCV, CSF study along with sputum AFB culture. ZN staining and CECT thorax were also done to support the diagnosis. Results: Of total four cases, 3 were male and 1 was female who presented with weight loss, anorexia, cough with or without hemoptysis, and acute progressive LMN quadriparesis in which there was typical albumin-cytological dissociation in CSF. Nerve conduction studies were suggestive of AIDP in two patients, AMAN in one patient, and AMSAN in the fourth one. An exhaustive investigation for triggers of GBS were performed for all patients who were treated with IVIG and two of them completely recovered and rest of two did not recover completely after 6 weeks of follow-up. Conclusion: In pulmonary tuberculosis, patients with polyneuropathy demands urgent search for GBS as there has been case reports in literature though the association between tuberculosis and GBS is not clear. [ABSTRACT FROM AUTHOR]

Introduction: Distal sensory polyneuropathy (DSP) is one of the most common neurological disorders. Although several studies have studied the role of the neurological examination in DSP, there are only limited studies on the utility of timed vibration sense (VBS) and joint position sense (JPS) testing in the diagnosis of DSP. Objectives: The objective is to study the utility of timed VBS testing and JPS testing at the great toe in clinical detection of DSP. Methods: This study was prospectively conducted in the neurology department of a tertiary care hospital in India. Patients with DSP referred to the electrophysiology laboratory from August 2017 to December 2017 were screened. Patients with symptomatic DSP which was confirmed by electrophysiological studies were taken as cases and normal participants with no symptoms or electrophysiological findings suggestive of DSP served as controls. Results: We studied 127 patients and 194 controls. The mean age of the patients was 48.7 (14.5) years in the patient group and 39.7 (14.5) years in the control group. The male: female ratio was 77/50 in the patient group and 112/82 in the control group. Abnormal clinical examination was found in 95% of the patients with DSP. The most common abnormal examination components were impaired ankle reflexes (70%), vibration (85%), and JPS (39.6%) sensation. Using the receiver operating characteristic curve for the diagnosis of DSP, a vibratory response lasting <8 s at the great toe had a sensitivity of 85% and specificity of 42.8%. For JPS testing at the great toe, obtaining two or more incorrect responses had a sensitivity of 33% and specificity of 87.6%. Conclusion: VBS testing was more sensitive and JPS testing was more specific in making a clinical diagnosis of DSP. For timed VBS, duration of >8 s at the great toe was a useful test to rule out DSP, and for JPS testing at the great toe, obtaining two or more incorrect responses was a useful test in ruling in the diagnosis of DSP. [ABSTRACT FROM AUTHOR]

Chronic polyneuropathy is a disabling condition of the peripheral nerves, characterized by symmetrical sensory motor symptoms and signs. There is paucity of studies on the etiological spectrum of polyneuropathy and its impact on quality of life (QoL). The present cross‐sectional study in a referral based tertiary care center in North India found diabetic neuropathy as the commonest cause (25.5%) amongst 212 patients with chronic polyneuropathy. Idiopathic axonal polyneuropathy was present in 14.2% patients. Leprosy presenting as confluent mononeuritis multiplex constituted 11.3% of the patients. Additionally, it revealed a significantly worse QoL in these patients in all domains measured by short form (SF‐36). This is the first study conducted in India to determine the QoL in chronic neuropathy patients. The current study demonstrates the clinical feasibility and applicability of the SF‐36 generic health status in patients with polyneuropathies. [ABSTRACT FROM AUTHOR]

Background: Diabetic poly neuropathy, a common complication of diabetes, is diagnosed by symptoms, signs, physical examination, nerve conduction studies, and other neurophysiological methods. Although nerve conduction studies are useful in the diagnosis and evaluation of diabetic neuropathy, there are difficulties in using them for the differential diagnosis of peripheral neuropathy because the pathological changes of diabetic neuropathy are varied. Aims & Objective: To investigate the usefulness of a new parameter, the ratio of motor nerve conduction velocity to F-wave conduction velocity (M/F ratio), for the differential diagnosis of diabetic neuropathy. Materials and Methods: Nerve conduction studies were conducted in 100 patients with diabetic neuropathy during the period of December 2012 to February 2013, 45 non diabetic patients with peripheral neuropathy, and 25 normal control participants. Non diabetic patients with neuropathy were grouped by clinical diagnosis as follows: segmental demyelination (n = 15), axonal neuropathy (n = 11), alcoholic poly neuropathy (n = 5), and other poly neuropathy (n = 14). Motor nerve conduction velocity (MCV) of post-tibial nerves, sensory nerve conduction velocity (SCV) of sural nerves, and F-wave conduction velocity (FWCV) of post-tibial nerves were measured by standardized techniques. The M/F ratio was calculated from these measurements. Results: The motor conduction velocity (MCV) and sensory conduction velocity (SCV) of diabetic patients were significantly slower and the M/F ratio was significantly lower than those of normal participants: MCV, 43.7 ± 5.4 vs. 47.1 ± 2.9 m/s, P < 0.001; SCV, 44.7 ±11.1 vs. 48.3 ± 5.7 m/s, P < 0.05; M/F ratio, 0.84 ± 0.09 vs. 0.90 ± 0.06, P < 0.001. The FWCV of nondiabetic patients with neuropathy was significantly slower (40.0 ± 6.3 vs. 48.3 ± 4.0 m/s, P < 0.001) and the M/F ratio was significantly higher (1.04 ± 0.12, P < 0.001) than that of normal participants, respectively. Although MCV, SCV, and FWCV were correlated with age in normal control participants, the M/F ratio was independent of age in the diabetic as well as the nondiabetic patients with neuropathy. Conclusion: Results suggest that the M/F ratio, which is influenced by the neuronal damages in the distal segment of peripheral nerves, is useful in the differential diagnosis of diabetic neuropathy. [ABSTRACT FROM AUTHOR]

Objective: Guillain-Barre Syndrome (GBS) is an acute inflammatory polyradiculoneuropathy causing limb weaknesses. The mortality is around 8%, with about 20% of patients remaining disabled. The purpose of this study is to examine the performance of Indian Medical Scientists in the area of GBS over a period of 40 years. India's contribution to GBS has been examined based on the global publication output and share, growth rate, citation impact, publication share in various field, highly cited papers and their impact, most productive authors and their citation impact and collaboration of research on GBS with the international community . Materials and Methods: The data for this study has been taken from Scopus, a multidisciplinary database using keywords GBS and Miller Fisher Syndrome. The contribution of India on GBS has been compared with different countries for its publication and citation count during a period of 40 years (1973-2012). Results: It is found that there were 10,633 publications available from global medical research covering the various aspects of GBS. India's share is 2.92% of global output and holds 10th rank in overall publication output on GBS, whereas United States topped the rank with the highest number of publications. Sanjay Gandhi Post-graduate Institute of Medical Research, Lucknow is the most productive institutions while Tally AB from the National Institute of Mental Health and Neurosciences, Bangalore is the most productive author who has contributed the highest number of papers on GBS. Conclusion: India is far behind in GBS research as compared to other countries like USA, as there might be a low case report of GBS in Indian population. Still the research focusing this disease is quite prominent and needs a careful medical attention through research capacity building in order to look for better treatment of the disease in Indian cases. This study shall be helpful in enhancing the awareness of the GBS by Indian scientists. [ABSTRACT FROM AUTHOR]

Methanol poisoning is a rare but extremely hazardous form of intoxication, generally occurring after suicidal or accidental events. Methanol is a cheap and potent adulterant of illicit liquors. In India, we have witnessed number of mass emergencies due to adulterated alcohol consumption. Although Gujarat State had banned alcohol consumption since 1961, worse hooch tragedies have often taken place. The most severe consequences of methanol intoxication are blindness, a profound metabolic acidosis and various forms of neurological impairment; which occur characteristically after a latent period of several hours or days after ingestion. We present a unique case of acute methanol intoxication presented with, apart from metabolic acidosis and optic neuritis, involvement of central nervous system and peripheral nervous system. He had bilateral optic neuritis, delayed onset polyneuropathy with axonopathy, and radiculopathy. Magnetic resonance imaging findings were consistent with bilateral putaminal necrosis. [ABSTRACT FROM AUTHOR]

Summary: We report two cases of people from different states in India who developed polyneuropathy following intake of mefloquine for treatment of malaria. To the best of our knowledge this has not been reported before. [Copyright &y& Elsevier]

A subset of neuritic form of leprosy, called pure neuritic leprosy (PNL), seen in a minority of leprosy patients, is characterized by peripheral neuropathy without skin lesions and an absence of acid-fast bacilli on skin smears. Patients with PNL are often started on drug therapy without confirmation of diagnosis. We, therefore, did a prospective study of clinically diagnosed PNL patients with correlation of ultrasonographic and biopsy findings. A total of 100 consecutive patients with PNL, diagnosed according to the consensus case definition, were included in the study. All patients underwent nerve conduction study, peripheral nerve ultrasonography, and sural nerve biopsy. Multiple mononeuropathies were present in 75% of cases, mononeuropathy in 18%, and polyneuropathy in the remaining 7%. Compared to clinical examination, ultrasonographic assessment of the peripheral nerves was not only better at the detection of thickening but also helped in characterization of their fascicular architecture, echogenicity, and vascularity. A total of 32 cases were confirmed on nerve biopsy, out of which 75% had demonstrable lepra bacilli. Cranial nerve involvement, presence of trophic ulcers, and bilateral thickening of the great auricular nerve were significantly associated with the positivity of lepra bacilli. A significant improvement in the disability score happened after multidrug therapy. A comprehensive electrophysiologic, ultrasonographic, and histological evaluation may be helpful in establishing a diagnosis of PNL with greater confidence, while ruling out other non-leprosy diagnoses., (© 2020 Peripheral Nerve Society.)