BackgroundBiotinidase deficiency (BTD) is a rare, autosomal-recessive neurometabolic disorder due to biallelic pathogenic variants in the BTD gene. Diffuse leukoencephalopathy with diffusion restriction on neuroimaging is a rare but reversible radiologic pattern associated with BTD.ObjectivesTo describe the clinico-radiologic profile of 3 children with genetically confirmed profound BTD presenting with diffuse leukoencephalopathy and diffusion restriction, and to compare findings with similar cases reported in the literature.MethodsConsecutive children attending the pediatric neurology clinic were evaluated for early-onset seizures, developmental delay, respiratory symptoms, and encephalopathy. Clinical, biochemical, genetic, neurophysiological, and magnetic resonance imaging findings were analysed. Whole exome sequencing confirmed BTD gene variants. A systematic PubMed search and literature review were conducted using specified MeSH terms to identify similar cases.ResultsThree male children from 2 families were evaluated. All cases had early-onset seizures, developmental delay, and profound biotinidase deficiency. Stridor was noted in 2 cases. Genetic analysis identified 2 pathogenic BTD variants: homozygous, frameshift deletion (c.38_44delinsTCC; p.Cys13PhefsTer36), and another homozygous, nonsense variant (c.946C>T; p.Gln316Ter). Neuroimaging revealed diffuse leukoencephalopathy with intense diffusion restriction in all, which reversed completely with biotin supplementation. Seizures and encephalopathy resolved while optic neuropathy progressed despite treatment. Literature review identified 13 additional cases with diffusion restriction, and all of them had an early presentation.ConclusionsProfound BTD may present with diffuse leukoencephalopathy and diffusion restriction, mimicking neuroinflammatory or degenerative conditions. This reversible metabolic disorder should be considered in the differential diagnosis of pediatric white matter disorders. Early diagnosis and biotin supplementation are crucial for neurologic recovery although optic and auditory neuropathy may progress despite treatment.

BACKGROUND:The aim of this study was to evaluate factors causing difficulty in internal carotid artery (ICA) access using the left transradial approach for diagnostic cerebral angiography. METHODS:This was a prospective, single-centre, analytical study (n = 32 enrolled, n = 31 analysed) with an indication for diagnostic cerebral angiography. Diagnostic angiography via left transradial access was performed in all cases. Factors influencing the bilateral ICA catheterisation were evaluated. RESULTS:Diagnostic angiography was successfully completed in all 31 analysed patients (100%). Successful RICA catheterisation was observed in 25 (80.6%) cases, and LICA catheterisation was observed in 77.43% (24/31) of cases. Reflecting the hydrophilic guidewire off the aortic root/valve to gain support and advance the catheter into the ICA was required in 17/24 (70.8%) of LICA and 9/25 (36%) of RICA cases to facilitate catheterisation. Positive correlation was observed between BCA-LCCA, left CCA-left subclavian artery angles and inability to cannulate LICA. A Type III arch was associated with an increased LICA cannulation time. The presence of a bovine aortic arch necessitated the use of the reflected-wire technique to cannulate the LICA. CONCLUSIONS:The reflected-wire technique can be used to facilitate ICA catheterisation via the left radial approach.

Neonatal sepsis, a global health concern, contributes significantly to neonatal mortality, particularly in low- and middle-income countries (LMICs). It manifests as early-onset sepsis (EOS), late-onset sepsis (LOS), and very late-onset sepsis (VLOS), with varied etiologies and risk factors, such as preterm birth, low birth weight, and maternal infections. High-income countries (HICs) have successfully reduced neonatal sepsis mortality through advanced diagnostic tools, antibiotic stewardship, and infection control practices. However, LMICs face persistent challenges, including inadequate healthcare infrastructure, poor access to quality care, and rising antimicrobial resistance. This narrative review aimed to address the global disparities in the incidence, mortality, etiology, diagnosis, and treatment of neonatal sepsis, emphasizing the critical role of healthcare workers. The review highlights the pivotal responsibilities of healthcare workers in early diagnosis, infection control, and education. Strengthened healthcare systems, capacity-building initiatives, and stringent infection control measures are imperative to mitigate neonatal sepsis and its associated mortality globally. This review emphasizes the urgent need for collaborative global efforts to address these challenges.

TANGO2 deficiency disorder is a rare, autosomal recessive, neurometabolic condition typically characterized by recurrent metabolic crises, rhabdomyolysis, cardiac arrhythmias, and neurodegeneration. We report a 5-year-old boy with normal early development followed by fever-triggered metabolic encephalopathy from 10 months, associated with severe high anion-gap metabolic acidosis. He subsequently developed epileptic spasms with hypsarrhythmia, evolving into refractory epilepsy and profound developmental impairment. Serial neuroimaging showed early cortical diffusion restriction followed by progressive cerebral atrophy. Notably, classical features such as rhabdomyolysis, cardiac involvement, and TANGO2 spells were absent, and metabolic evaluation was largely unremarkable between episodes. Genetic analysis identified a homozygous 3.6-kb deletion involving exons 4 to 6 of the TANGO2 gene. This case highlights that TANGO2 deficiency may present predominantly as a developmental and epileptic encephalopathy phenotype and is more commonly due to multi-exon deletions rather than single-nucleotide variations as seen in other inherited metabolic disorders. Early genetic testing, including copy number analysis, is essential for diagnosis and management.

Septic cavernous sinus thrombosis (CST) is a rare but life-threatening complication of facial infections, typically arising from the midface 'danger triangle'. Rarely, lateral facial infections may also lead to CST through spread via deep venous pathways. We report a previously healthy adolescent boy who developed fever, bilateral orbital swelling, and painful ophthalmoplegia shortly after the resolution of a furuncle over the left temporal part of the forehead. Magnetic resonance imaging confirmed CST. He was treated with intravenous ceftriaxone, vancomycin, and low molecular weight heparin, resulting in clinical recovery. This case highlights the importance of considering CST even when the primary infection lies outside the classical anatomical danger zone.

Managing diabetes requires careful food choices, especially for those with limited access to nutritious options. Intermittent fasting (IF) has emerged as a promising strategy for improving outcomes in both type 1 (T1DM) and type 2 diabetes mellitus (T2DM) by stabilizing blood glucose levels and aiding in weight management. This review explores various methods of IF, including the 16/8 method, 5:2 diet, Eat-Stop-Eat, and others, highlighting their potential benefits such as weight loss, improved insulin sensitivity, and glucose tolerance. Although IF shows promise, particularly in T2DM, it poses risks like hypoglycemia and dehydration, particularly in T1DM. Safe practices include consulting healthcare providers, monitoring glucose and ketone levels, and adjusting medications. This review highlights the need for individualized approaches to IF to optimize diabetes management and mitigate risks.

Tuberculosis (TB) remains a global health challenge, with an estimated 10.6 million new cases and 1.3 million deaths in 2022. Recent years have seen a 3.9% increase in TB incidence, reversing prior declines. Drug-resistant TB poses significant hurdles, with multidrug-resistant (MDR) and rifampicin-resistant (RR) TB affecting 410,000 individuals, yet only 175,650 were diagnosed and treated. Advances in TB treatment include the World Health Organization’s recommended 6-month BPaLM regimen (Bedaquiline, Pretomanid, Linezolid, Moxifloxacin), demonstrating 89% treatment success for MDR/RR-TB cases. Innovative diagnostics like molecular tests, IGRA, CAD for chest radiography, and new skin tests enhance detection accuracy. Vaccine development is promising, with 16 candidates in clinical trials. Emerging drugs and regimens aim to shorten treatment duration and improve outcomes. This article reviews recent advancements in TB treatment regimens, diagnostics, and vaccines, emphasizing the importance of these innovations in addressing drug-resistant TB and improving global TB control efforts.

Chikungunya virus (CHIKV) typically causes febrile illness and arthralgia. However, severe complications such as encephalitis, rhabdomyolysis, and multiorgan dysfunction are increasingly recognised, particularly during epidemics in endemic regions. We report a case of a 61-year old male presenting with progressive flaccid paraparesis and respiratory failure following febrile illness. Magnetic resonance imaging (MRI) revealed white matter hyperintense foci with restricted diffusion in the periventricular, deep white matter, cerebellum, and middle cerebellar peduncles, consistent with encephalitis. Laboratory findings indicated rhabdomyolysis and acute kidney injury. Serological confirmation of CHIKV highlighted the diagnosis of CHIKV encephalitis complicated by rhabdomyolysis. Despite intensive care, the patient succumbed to refractory shock and hyperkalaemia. This case underscores the importance of early recognition of atypical manifestations of CHIKV, particularly MRI findings, to facilitate timely diagnosis and multidisciplinary management in severe cases.

Background We aimed to analyze the prevalence, clinico-radiological and genetic features, and outcomes in children with Alexander disease (AD) with special emphasis on atypical presentations. Methods This cross-sectional study evaluated children with AD seen over the past 10 years. Neuroimaging was evaluated by a trained neuroradiologist. In-silico tools were used to predict the pathogenicity of the novel variants detected by whole-exome sequencing. Results N = 12 children (males 58.3 %) with genetically-confirmed AD were evaluated. Disease subtypes were infantile (n = 7, 58.3 %), juvenile (n = 3, 25 %), and neonatal (n = 2, 16.7 %) AD. The clinic-based prevalence of AD was 0.34 cases per 1000 pediatric neurology patients per year, or an average of 1.2 cases per year. Clinical features were developmental delay (n = 9, 75 %), macrocephaly (n = 9, 75 %), spasticity (n = 6, 50 %), and epilepsy (n = 8, 66.7 %); two children with juvenile-onset disease had atypical visual and bulbar manifestations. Pathogenic variations were most common in exons 1 (n = 5, 42 %), and exon 4 (n = 4, 33.3 %). These were missense type (n = 11, 91.6 %) or deletion (n = 1, 8.3 %). Three novel variants were detected: c.251T>G (p.Ile84Ser) in exon 1, c.810_818 deletion (p.Asn271_Glu273del) in exon 5, and c.292G>C (p.Ala98Pro) in exon 1 in the GFAP gene (NM_002055). Majority of children developed spastic paresis (n = 9, 83 %) and mortality rate was 33.3 % (n = 4/12). Conclusion AD is a rare leukodystrophy with high mortality and progressive spastic paraparesis. Neonatal and juvenile types may present atypically and delay correct diagnosis. Deletions may account for a minor proportion of pathogenic variants. Our study expands the clinico-radiological spectrum of AD in children.

Acute hemorrhagic leukoencephalitis (AHLE) is a rare but fulminant variant of acute disseminated encephalomyelitis, an uncommon immune-mediated demyelinating disorder. We report a case of AHLE in a 27-year-old pregnant woman who presented with acute onset of fever, aphasia, and a generalized seizure, followed by rapid neurological deterioration. The hallmark neuroimaging findings made the prompt diagnosis. The patient responded dramatically to high-dose corticosteroid therapy, with full neurological recovery. She subsequently delivered a healthy full-term infant and remained asymptomatic at one-year follow-up.

Background: Knowledge regarding the hepatitis B vaccination is crucial for eliminating hepatitis B. We aimed to estimate the proportion of hepatitis B infection among pregnant mothers attending a tertiary care hospital in eastern India, along with an assessment of knowledge on hepatitis B infection and preventive measures among them. We also aimed to estimate the coverage of the hepatitis B vaccine and the factors responsible for the nonacceptance of the vaccine. Methodology: We conducted a cross-sectional study at All India Institute of Medical Sciences, Bhubaneswar, for a year from 1 May 2017 to 30 April 2018. Study participants were selected from pregnant women coming to the outpatient department (OPD) of the Department of Obstetrics and Gynaecology for routine antenatal check-ups who were willing to participate and consented to the study. A pre-designed, pre-tested questionnaire was used to collect data regarding the level of knowledge on hepatitis B infection and vaccination. We also collected venous blood samples for the detection of Hepatitis B Surface Antigen (HBsAg). Results: A total of 510 pregnant women were recruited for 1 year. The mean age of the study participants was 27.2 years (±4.7 years). Only 2 (0.3%) out of 510 study participants were HBsAg-positive. Around two-thirds of study participants, that is, 324 (63.5%), had heard of hepatitis B. When enquired about the source of information, radio and television were mentioned by 24% of participants. Another 11% mentioned they received information from doctors. Only 12.4 % of participants received the Hep-B vaccine, 85.9% did not, and 1.8% were unaware of their vaccination status. Conclusion: It was revealed that the proportion of hepatitis B among pregnant women was below the national level. The level of knowledge among the beneficiaries was not satisfactory. Organised health education through mass media has to be enhanced to increase awareness among the general population regarding the hepatitis B vaccination.

Tobacco use remains a pervasive global health challenge, particularly affecting low- and middle-income countries (LMICs) like India, where it contributes significantly to preventable deaths and economic burdens. This comprehensive review synthesizes current literature from 2010 to 2024 using prominent databases such as PubMed, ScienceDirect, UpToDate, and Embase and extracted 49 full text article focused on tobacco prevalence, health impacts, and control measures in India, emphasizing the urgency of tobacco elimination to achieve sustainable development goals (SDGs). The review includes data from the Global Adult Tobacco Survey (GATS 2), highlighting that 28.6% of Indian adults use tobacco, with variations by gender, urban-rural divide, and product preference. Tobacco use exacerbates health disparities, leading to chronic diseases such as cancer, respiratory conditions, and cardiovascular disorders. Moreover, tobacco compromises immune function, increasing susceptibility to infections like tuberculosis and COVID-19. Effective tobacco control strategies outlined include policy interventions, cessation programs integrating counseling and medication, international collaborations under the WHO Framework Convention on Tobacco Control (FCTC), and leveraging technological advancements like mobile apps and virtual reality for cessation support. This review highlights the importance of coordinated efforts to create a tobacco-free future in India and globally.

Streptococcus pneumoniae is the leading cause of community-acquired bacterial meningitis across all age groups. Despite appropriate antibiotic therapy, the prognosis for pneumococcal meningitis remains poor. While common acute complications include cerebral edema, brain herniation, ventriculitis, hydrocephalus, and cerebral infarctions, hemorrhagic events are rarely reported. We present a case of a young male with S. pneumoniae meningitis, who developed diffuse cerebral microhemorrhages, an extremely rare complication. Despite culture-guided antibiotic therapy, the patient's condition deteriorated, requiring mechanical ventilation. Magnetic resonance imaging revealed diffuse cerebral microhemorrhages, prompting intensive supportive care. Prolonged mechanical support and a two-week antibiotic therapy led to gradual recovery, and the patient was discharged without neurological sequelae. This case highlights the importance of early imaging and timely intervention in managing rare complications of bacterial meningitis.