Introducing double fortified salt in social safety net programmes in Madhya Pradesh and Gujarat in India: Success factors, challenges and lessons learned.

Double fortified salt (DFS; with iron and iodine) was introduced in social safety net programmes (SSNPs) in Madhya Pradesh (MP) and Gujarat states in 2018. Nutrition International (NI) provided critical support for the intervention. An impact evaluation in MP found high DFS uptake, exceeding 90%. Conduct a process evaluation of the DFS programmes in MP and Gujarat states to identify success factors, challenges, and recommend considerations for scale-up. Twenty-eight qualitative interviews were conducted with NI staff, national and state level government officials, and DFS producers in 2022. Enabling environmental factors included national-level support for food fortification, consensus that anaemia was essential to address, and institutional trust in NI for technical assistance. In programme implementation, the primary challenges were reports of black specks in DFS and the darkening of food cooked with DFS. NI supported the government in improving handling practices, ensuring a regular and stable supply, introducing quality monitoring efforts and launching targeted behaviour change communication (BCC) campaigns regarding the value of DFS. Long-term implementation of the programmes is a weak point, as DFS production is more expensive than iodised salt, there is no existing market outside of institutional demand, and BCC must be long-term, high-quality, and requires resourcing for continued high uptake among SSNP beneficiaries. Strong government buy-in and technical support along the supply chain to address quality issues and beneficiary acceptance were key factors for the successful introduction of DFS. Comparative studies of DFS programmes should be conducted to improve confidence in the success factors that lead to high DFS uptake.

Unveiling a Neurological Enigma: Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL) Presenting With Facial Palsy.

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an uncommon genetic disorder that affects small blood vessels in the brain. It leads to neurological symptoms, disability-adjusted life years, and difficult emotional and physical situations for patients and their families. As unusual brain symptoms appear, it becomes important to understand the different clinical manifestations of CADASIL. Our case report and review examine several cases to demonstrate different presentations and management strategies of CADASIL. A 52-year-old male with a family history of strokes at a young age from his father and paternal grandfather presented to a neurology clinic for left facial droop and drooling. Brain magnetic resonance imaging showed extensive periventricular and subcortical white matter disease, including the external capsule and subcortical white matter of the temporal lobe. Findings were suggestive of small vessel vasculopathy. A cerebral angiogram showed that all large extra- and intracranial vessels were patent without evidence of aneurysm formation. There was no obvious evidence of beading of the distal intracranial vessels. Cerebrospinal fluid studies were normal. The NOTCH3 mutation was sent to test for CADASIL, which came back positive. The patient was started on aspirin (81 mg) and atorvastatin (20 mg) daily. The patient was counseled on the possibility of having an ischemic or hemorrhagic stroke. Aspirin and atorvastatin were continued, a neuropsychological evaluation was ordered, and CADASIL genetic counseling and testing were offered to him and his children. Over several years, patients developed several strokes and seizures due to infarcts. He also developed intraparenchymal hemorrhage complicated by dysphagia, requiring a feeding tube. Due to his severe physical debility, he was discharged to a nursing home for rehabilitation, where he did not improve with therapy and remained bedbound. He was discharged and sent home with his family. CADASIL can present as a diagnostic challenge due to its common presentation with migraines, transient ischemic attacks, and strokes, with or without risk factors. This unique presentation of CADASIL with facial palsy highlights the importance of emerging atypical presentations and the need for a detailed history of neuroimaging, family history, and personal history of neurovascular events. By accurately diagnosing the condition, patients and families can be counseled on the disease course and genetics. Management requires a multidisciplinary approach with neurology, genetic counseling, physical therapy, psychology, and psychiatry if depression or anxiety is present, with the aim of improving the patient's quality of life.

Falls Prevention Using AI and Remote Surveillance in Nursing Homes.

The older population of United States is growing, with more adults having complicated medical conditions being admitted into nursing facilities and assisted living facilities. With the COVID-19 pandemic, the biggest challenge has been falls prevention, with an increasing number of patients being placed in their rooms under isolation. This has reduced nursing staff visits to the rooms, bringing up safety issues like falls. Many falls prevention programs have been tried and tested with this quality metric still posing a huge challenge in nursing facilities. The COVID 19 pandemic has given rise to new innovative technology and virtual solutions for prevention of falls. One such technology uses patient visuals through a camera in the patient's rooms and artificial intelligence to send alerts to staff. Such innovative technologies might be the future of falls prevention in the post-acute care, long-term care, and assisted living facilities.

Missing Renal Stone Diagnosis in Dementia Patients With Recurrent Urinary Tract Infections: A Case Report and Literature Review.

In older adults, diagnosing, treating, and preventing urinary tract infections (UTIs) can be challenging. This case is of an 82-year-old female of white descent, who was admitted to a post-acute care facility following hospitalization for delirium and a UTI. Hypoactive delirium may be the only clinical manifestation of recurrent UTI. Due to challenges in obtaining a history from this patient with dementia, she had to be admitted multiple times for sepsis. During her final hospitalization, a CT scan of the abdomen and pelvis was ordered, which revealed an obstructed kidney stone as the cause of her recurrent UTIs. Recurrent UTIs especially in patients with dementia should prompt further imaging to look for kidney stones. Factors like dehydration and poor oral intake are risk factors for kidney stones, which patients with dementia are susceptible to.

Identification of Neighborhood Hotspots via the Cumulative Hazard Index: Results From a Community-Partnered Low-Cost Sensor Deployment.

The Strathcona neighborhood in Vancouver is particularly vulnerable to environmental injustice due to its close proximity to the Port of Vancouver, and a high proportion of Indigenous and low-income households. Furthermore, local sources of air pollutants (e.g., roadways) can contribute to small-scale variations within communities. The aim of this study was to assess hyperlocal air quality patterns (intra-neighborhood variability) and compare them to average Vancouver concentrations (inter-neighborhood variability) to identify possible disparities in air pollution exposure for the Strathcona community. Between April and August 2022, 11 low-cost sensors (LCS) were deployed within the neighborhood to measure PM2.5, NO2, and O3 concentrations. The collected 15-min concentrations were down-averaged to daily concentrations and compared to greater Vancouver region concentrations to quantify the exposures faced by the community relative to the rest of the region. Concentrations were also estimated at every 25 m grid within the neighborhood to quantify the distribution of air pollution within the community. Using population information from census data, cumulative hazard indices (CHIs) were computed for every dissemination block. We found that although PM2.5 concentrations in the neighborhood were lower than regional Vancouver averages, daily NO2 concentrations and summer O3 concentrations were consistently higher. Additionally, although CHIs varied daily, we found that CHIs were consistently higher in areas with high commercial activity. As such, estimating CHI for dissemination blocks was useful in identifying hotspots and potential areas of concern within the neighborhood. This information can collectively assist the community in their advocacy efforts.

An Unusual Case of Burning Mouth Syndrome in an Adult Male: A Case Report.

Burning mouth syndrome (BMS) is a rare disorder primarily affecting the oral mucosa and characterized by a chronic burning sensation without specific oral mucosal lesions. This paper presents a case of a 54-year-old adult male patient who complained of chronic burning mouth pain. The clinical diagnosis was made after excluding various differentials, including oral candidiasis, hairy oral leukoplakia, gastroesophageal reflux disease, oral lichen planus, local infective processes, and nutritional deficiencies. Physical examination did not reveal specific signs or lesions related to BMS; however, considering the patient's signs, symptoms, and the exclusion of other possibilities, a possible diagnosis of BMS was considered. The patient was evaluated in an outpatient setting, and management was conducted in this setting to reduce patient costs. This presentation is considered rare, as the disorder predominantly affects postmenopausal females, and most proposed theories behind its pathophysiology revolve around estrogen-mediated modulation of pain receptors. Currently, diagnostic and management criteria for BMS may vary and continue to evolve. The management of this patient focuses on patient education and routine follow-up. This case report presents the management of this particular case, along with a review of other proposed management options.

Modulation of translational decoding by m6A modification of mRNA.

N6-methyladenosine (m6A) is an abundant, dynamic mRNA modification that regulates key steps of cellular mRNA metabolism. m6A in the mRNA coding regions inhibits translation elongation. Here, we show how m6A modulates decoding in the bacterial translation system using a combination of rapid kinetics, smFRET and single-particle cryo-EM. We show that, while the modification does not impair the initial binding of aminoacyl-tRNA to the ribosome, in the presence of m6A fewer ribosomes complete the decoding process due to the lower stability of the complexes and enhanced tRNA drop-off. The mRNA codon adopts a π-stacked codon conformation that is remodeled upon aminoacyl-tRNA binding. m6A does not exclude canonical codon-anticodon geometry, but favors alternative more dynamic conformations that are rejected by the ribosome. These results highlight how modifications outside the Watson-Crick edge can still interfere with codon-anticodon base pairing and complex recognition by the ribosome, thereby modulating the translational efficiency of modified mRNAs.

Prebiotics: Ignored player in the fight against cancer.

BACKGROUND: Prebiotics is a relatively neglected area in cancer research, despite evidence suggesting that it plays a key role in suppressing tumour growth and improving immune function. RECENT FINDINGS: Including prebiotics in the diet has been shown to strengthen the immune system and can better slow down or prevent the growth of tumours. It has also been strongly indicated in various scientific studies that prebiotics can contribute to the sustenance of a healthy microbiome, which in turn plays an important role in increasing the effectiveness and reducing the side effects of cancer treatments. CONCLUSION: In the present review article we highlight the mechanisms by which prebiotics like inulin, fructooligosaccharide (FOS), ß-glucan, pectin, and xylooligosaccharide (XOS) function. Furthermore, the beneficial effect of incorporating prebiotics during cancer therapy to improvise gut health and prevent/reverse the damage caused to patients due to chemotherapy has also been elaborated.

Management of reject water in decentralized community RO plants by devising an integrated treatment scheme of NF and RO by pilot-scale analysis.

Community RO plants have been installed in the semi-arid state of Rajasthan in India to provide potable water to the scattered rural settlements by treatment of brackish groundwater. Presently, these are using standalone RO systems which are operating at low recovery along with the problem of early membrane scaling. To ensure sustainability and maximize the recovery of fresh water, hybrid configurations of membrane processes must be evaluated. In this work, it is aimed to design a conclusive hybrid scheme of NF and RO to deliver maximum freshwater recovery. Firstly, the individual performance of NF and RO in a two-pass NF-RO configuration is evaluated i.e., the removal of ions with respect to feed concentration, ionic radius and hydration radius. The removal efficiency was 85% for sulphate, 54% for calcium and 56% for magnesium by NF. The scaling potential of the water greatly reduced as indicated by the LSI and RSI values by NF pre-treatment. The characterization of RO and NF by FESEM-EDS and FTIR Spectroscopy showed numerous peaks in NF as compared to RO corresponding to inorganic scaling. The specific energy consumption for NF, RO and two-pass NF-RO was 0.13-0.27 kWh/m3, 0.04-0.08 kWh/m3 and 0.17-0.35 kWh/m3, respectively. Based on the performance of standalone NF, RO and two pass NF-RO, mathematical simulations were performed to derive best configurations for NF-RO integration. The resulting configuration, a two stage RO-NF with NF permeate blending to the raw water, resulted in a recovery of 70-80% which was ∼50% higher than the two-pass NF-RO scheme.

Intensity-modulated radiotherapy in locally advanced head-and-neck cancers in elderly patients.

Introduction: Head and neck cancer is one of the most common malignancies in Indian males. Due to poor socioeconomic status, presentation is usually in advanced stage. Treatment option is limited to radiotherapy with or without chemotherapy. Intensity-modulated radiotherapy (IMRT) provides highly conformal dose distributions creating nonuniform spatial intensity using different segments in the beam. Concomitant chemoradiation is highly toxic in this age group. Material and Methods: During 2016-2017, 44 patients with locally advanced head-and-neck cancers were treated with a curative intent with IMRT. They were in the age range of 65-75. The median age was 69 years. Thirty five were male and nine were female. Histopathologically, all had squamous cell carcinoma. Stage wise, all were T3N2 or more. The standard technique of IMRT was used with sparing of organs at risk and defining treatment volumes: gross, clinical, and planning. Patients were assessed after 4 weeks of completion of treatment for response and toxicities. Results: Response vise, 14 patients achieved complete response, 28 patients had partial response, and 2 had stable disease. There was no treatment-related mortality. Six patients had treatment interruptions due to toxicity. Incidence of mucositis was of Grade 1-2 in all patients. No hematological toxicity was seen. Patients having dysphagia during treatment were given nasogastric feed.

An insight on topically applied formulations for management of various skin disorders.

Various types of skin disorders across each age group and in each part of geographical world are very dreadful. Despite not being fatal each time they are always of social and mental concern for suffering individuals, causing complications in millions of patients every day and require comparatively longer duration of treatment. Off late, various topical/transdermal formulations have been widely explored for the treatment of various skin ailments. The efficiency of topical therapy depends on various physiochemical properties of drugs like particle size, particle size distribution, partition coefficient, viscosity of dosage form, skin permeability, skin condition and the site of application. Therefore, in plenty of examples, long-acting topical formulations have shown to be markedly excellent in comparison to conventional dosage forms. The major advantages of topical formulations accrue from their demonstrated ability: (i) Reduced serious side effects that may occur due to undesirably higher systemic absorption of drug. (ii) Enhancement of drug accumulation at the desired site. (iii) Easy incorporation of enormous range of hydrophilic and hydrophobic drugs and (iv) Reduced risk of dose dumping and comparatively easy termination of drug release. The prospective applications of topically applied formulations and the deposition of pharmaceuticals into the skin are examined.

Estimating the effectiveness of lollipops containing xylitol and erythritol on salivary pH in 3-6 years olds: A randomized controlled trial.

Background: Prevention of dental caries is important for nutrition and health of the child. Sucrose being considered an arch criminal, various substitutes are recommended. Xylitol is an artificial sweetener which cannot be metabolized by bacteria. Thus, it seems to be a promising method in prevention of dental caries. Materials and Methods: Fifty children between the age of 3-6 years were randomly divided into two groups; Group 1: Control group (without lollipops) and Group 2: Experimental group (with sugar substitute lollipops). The saliva sample was collected at four different time intervals, and pH of saliva was determined using universal pH indicator. Results: There was a significant drop in the pH after drinking sweetened beverages in both the groups, but there was a significant rise in pH after having xylitol + erythritol lollipops which almost returned to baseline after 15 min. Conclusion: Lollipops containing xylitol and erythritol can be used in small children and it has potential to increase salivary pH, thus not allowing the pH to fall below the critical value.

Incidence of xerostomia in locally advanced head-and-neck cancers in elderly patients treated with intensity-modulated radiotherapy.

Introduction: Dysphagia and xerostomia are the main sequelae of radiotherapy for head and neck cancer (HNC) and the main factors in reducing the longterm patient quality of life. Intensitymodulated radiotherapy (IMRT) uses advanced technology to focus the high radiation doses on the targets and avoid irradiation of noninvolved tissues. Material and Methods: During 2016-2017, 44 patients of locally advanced HNCs were treated with a curative intent with IMRT. They were in the age range of 65-75 years. The median age was 69 years. Thirtyfive patients were male and nine patients were female. Histopathologically, all had squamous cell carcinoma. Stage wise all were T3N2 or more. No concurrent chemotherapy was given. The Eastern Clinical Oncology Group criteria were used for grading the toxicities. Patients were assessed after 4 weeks of completion of treatment. Results and Conclusion: The incidence of mucositis was of Grade 1-2 in 37 patients. Moreover, patients experienced severe mucositis. Six patients had treatment interruptions due to mucositis. Xerostomia was Grade 1-2 in 42 patients and Grade 3 in 2 patients. Dysphagia was Grade 1-2 only. No hematological toxicity was seen. Patients having dysphagia during the treatment were given nasogastric feed. Response wise 14 patients achieved complete response, 28 patients had partial response, and 2 had stable disease. There was no treatmentrelated mortality.

Drug use evaluation of cephalosporins in a tertiary care hospital.

BACKGROUND: Infectious disease burden in India is among the largest in the world. Cephalosporins are being used extensively in the current scenario, both empirically and as definitive treatment. With this information, we tried to evaluate the prescription pattern of drugs for infections in medicine and general surgical wards of a tertiary care hospital and evaluate the utilization of cephalosporins in the same. METHODOLOGY: The study was conducted for a duration of 3 months in a tertiary care hospital after approval from the Institutional Ethics Committee, and permission of the respective heads of the surgery and medicine departments was obtained. After satisfying the inclusion criteria, participants' demographic details and the prescription notes by the treating doctor were noted and analyzed. The WHO prescription indicators were analyzed and the prescriptions were evaluated for the completeness of them. The utilization of cephalosporins was evaluated based on the institutional standard treatment guideline (STG) - Guidelines for Antimicrobial Therapy and Prophylaxis, 2014. Data were analyzed using descriptive statistics. RESULTS: A total of 600 patients were recruited, of which 350 were male and 250 were female. A total of 4341 drugs were prescribed. On an average, 7 drugs per prescription were found. The generic drugs prescribed were 27% (1163). Among the drugs prescribed, 19% (850) were antibiotics, of which 36.94% (314) were cephalosporins and 81% (3491) were other drugs. Ninety-four percent (565) prescriptions were incomplete (in terms of dose, frequency, duration, or dosage form). After referring to the STG, we found that cephalosporins were prescribed empirically in 40% (126) cases, of which medicine prescriptions accounted for it the most. CONCLUSION: Cephalosporins are extensively prescribed in medicine and surgery wards of the tertiary care hospital.

Aetiology, management, and outcome of lower respiratory tract infection in renal allograft recipients - A report from a tropical country.

Introduction: Lower respiratory tract infections (LRTIs) among renal transplant recipients (RTRs) are a significant cause of morbidity and mortality. This study aimed to analyse the aetiology, outcome, and risk factors associated with mortality. Methods: We analysed baseline transplant characteristics, symptoms, hospital course, laboratory, serological and microbial results, and their association with the outcome of all RTRs between January 2011 and December 2019. Results: A total of 206 LRTI patients out of 1051 RTRs were analysed. The incidence proportion was nearly 22 episodes per 1000 patients per year. The mean age was 39.3 years, with male predominance. Bacterial was the most common aetiology (53%), and staphylococcus was the most common species. Among the fungal causes (14%), 68% had aspergillus infection. More than one-third RTRs died during the hospital course mainly because of bacterial causes (42.6%). The aspergillus infection was the most common fungus associated with 50% mortality. On multi-variate analysis, sepsis, septic shock, and the need for mechanical ventilation independently predicted mortality. Conclusion: Bacterial aetiology was the most common cause; though the fungal aetiology was seen less, it was associated with higher mortality. Mortality in RTR with LRTI was associated with sepsis, septic shock, and the need for mechanical ventilation.

Efficacy of Local Autologous Platelet-Rich Plasma in the Treatment of Pressure Ulcer in Spinal Cord Injury Patients.

BACKGROUND: Pressure ulcer is one of the common complications occurring in spinal cord injury (SCI) patients. Platelet-rich plasma (PRP) has been found useful in the treatment of pressure ulcers in few studies. The purpose of this study was to evaluate the role of PRP in pressure ulcer healing in comparison to hydrogel dressing in SCI patients. METHODS: In this randomized interventional study, 52 patients of SCI having pressure ulcers of grade III/IV were randomized into two groups of 26 each. In group A patients, hydrogel dressing was done while freshly prepared PRP was used in patients of group B. Pressure ulcers were evaluated at baseline and after three weeks and six weeks in terms of ulcer surface area, volume, Pressure Ulcer Scale for Healing (PUSH) score, histopathology, and ulcer healing parameters. Data were collected and quantitative variables were compared using unpaired t-test or Mann-Whitney test between the two groups and qualitative variables were compared using the chi-square test or Fisher's exact test. A p-value of <0.05 was considered statistically significant. RESULTS:  Baseline characteristics were comparable in both groups. There was a significant improvement in ulcers in terms of surface area, volume, and PUSH score in both the groups but it was comparable (p-value >0.05). There was a significant improvement in the PRP group as compared to the other group in terms of epithelization, granulation, and neovascularization at three and six-week follow-up. CONCLUSIONS: This study suggests that PRP is a possible and better alternative to conventional dressing methods for the treatment of pressure ulcers.

Spatial Modeling of Daily PM2.5, NO2, and CO Concentrations Measured by a Low-Cost Sensor Network: Comparison of Linear, Machine Learning, and Hybrid Land Use Models.

Previous studies have characterized spatial patterns of pollution with land use regression (LUR) models from distributed passive or filter samplers at low temporal resolution. Large-scale deployment of low-cost sensors (LCS), which typically sample in real time, may enable time-resolved or real-time modeling of concentration surfaces. The aim of this study was to develop spatiotemporal models of PM2.5, NO2, and CO using an LCS network in Pittsburgh, Pennsylvania. We modeled daily average concentrations in August 2016-December 2017 across 50 sites. Land use variables included 13 time-independent (e.g., elevation) and time-dependent (e.g., temperature) predictors. We examined two models: LUR and a machine-learning-enabled land use model (land use random forest, LURF). The LURF models outperformed LUR models, with increase in the average externally cross-validated R2 of 0.10-0.19. Using wavelet decomposition to separate short-lived events from the regional background, we also created time-decomposed LUR and LURF models. Compared to the standard model, this resulted in improvement in R2 of up to 0.14. The time-decomposed models were more influenced by spatial parameters. Mapping our models across Allegheny County, we observed that time-decomposed LURF models created robust PM2.5 predictions, suggesting that this approach may improve our ability to map air pollutants at high spatiotemporal resolution.

Correlation between Vitamin D deficiency and nonspecific chronic low back pain: A retrospective observational study.

CONTEXT: Chronic lower back pain (CLBP) and Vitamin D deficiency are two common conditions presenting to primary care physicians. AIMS: To study the vitamin D status in North Indians presenting with nonspecific CLBP and the correlation between vitamin D levels and pain severity by the Visual Analogue Scale (VAS). SETTINGS AND DESIGN: An observational study. Record of all CLBP patients presenting to the outpatient department in 2019, were analyzed, retrospectively. METHODS AND MATERIALS: All the patients of age 18 to 65 and either sex with nonspecific CLBP were included. Patients were divided into two: Vitamin D deficient (Group 1) and normal (Group 2) with cut off Serum Vitamin D values at 30 ng/mL. Demographic data and Visual Analogue Scale scores (VAS) of both groups were recorded. STATISTICAL ANALYSIS USED: Correlations between Vitamin D values and VAS scores were investigated using the Spearman coefficient, and the results with P of ≤ 0.05 were contemplated significant. RESULTS: Of total 376 patients with nonspecific CLBP, the majority were adults, females, married, vegetarians, overweight or obese, and had a mean sun exposure time of two hours. Vitamin D deficient Group 1 had 302 (80.32%) patients with significantly lower (P < 0.0001) mean vitamin D levels compared to Group 2 (74 patients i.e., 19.68%). Spearman's rho coefficient between vitamin D and VAS, showed a negative correlation (-0.554), with a P value < 0.00001. CONCLUSIONS: This study indicated a high probability of vitamin D deficiency in the nonspecific CLBP population and a negative correlation between vitamin D status and pain severity.

Reducing the Burden of Anemia and Neural Tube Defects in Low- and Middle-Income Countries: An Analysis to Identify Countries with an Immediate Potential to Benefit from Large-Scale Mandatory Fortification of Wheat Flour and Rice.

Using a predetermined set of criteria, including burden of anemia and neural tube defects (NTDs) and an enabling environment for large-scale fortification, this paper identifies 18 low- and middle-income countries with the highest and most immediate potential for large-scale wheat flour and/or rice fortification in terms of health impact and economic benefit. Adequately fortified staples, delivered at estimated coverage rates in these countries, have the potential to avert 72.1 million cases of anemia among non-pregnant women of reproductive age; 51,636 live births associated with folic acid-preventable NTDs (i.e., spina bifida, anencephaly); and 46,378 child deaths associated with NTDs annually. This equates to a 34% reduction in the number of cases of anemia and 38% reduction in the number of NTDs in the 18 countries identified. An estimated 5.4 million disability-adjusted life years (DALYs) could be averted annually, and an economic value of 31.8 billion United States dollars (USD) generated from 1 year of fortification at scale in women and children beneficiaries. This paper presents a missed opportunity and warrants an urgent call to action for the countries identified to potentially avert a significant number of preventable birth defects, anemia, and under-five child mortality and move closer to achieving health equity by 2030 for the Sustainable Development Goals.

Atypical Childhood-onset Neuroaxonal Dystrophy in an Indian Girl.

A 7-year-old girl presented with progressive walking difficulties, spasticity, and cognitive decline with onset at 3 years of age. No seizures, vision, or hearing impairment were reported. The magnetic resonance imaging of the brain revealed cerebellar atrophy and evidence of iron deposition in the globi pallidi and substantia nigra. The clinico-radiological profile was suggestive of atypical childhood-onset neuroaxonal dystrophy. The patient was found to have compound heterozygous mutations in the PLA2G6 gene confirming the diagnosis.