The interaction of polychromatic X-ray beam with highly attenuating material leads to beam hardening which may manifest as “cupping” artifact, where the central part of the image appears relatively hypodense as compared to the periphery, a phenomenon arising out of the monochromatic beam assumption of the reconstruction algorithms. The presence of a central hyperattenuating structure with a surrounding homogeneous medium and a sufficient peripheral-to-central distance may result in a “reverse cupping-like” variant of the beam-hardening artifact, in which the central part of the image appears relatively hyperdense compared to the peripheral part. In this report, we describe a “reverse cupping-like” artifact observed in CT scans of the abdomens of 2 patients and reproduce the findings in a phantom experiment. We attempt to unearth the physical underpinnings of this phenomenon.
Background:Cerebral Palsy (CP) secondary to Hypoxic-Ischemic Encephalopathy (HIE) is a leading cause of childhood motor disability, particularly in low-middle income countries where delayed presentation precludes neonatal MRI assessment. Standardized and Validated MRI injury scoring systems exist for the neonatal period, but not for children beyond this window. Objectives:To evaluate the validity and clinical usefulness of a neonatal MRI injury scoring system (adapted from Trivedi et al,) when applied to children (1-13years) with CP secondary to HIE, correlating imaging severity with functional and cognitive outcomes.Methods:In this prospective cross-sectional study, 93-children aged 1-13 years with clinico-radiologically confirmed CP secondary to HIE were enrolled from tertiary-care centre in Punjab, India, for 18months. 3-Tesla MRI Brain with 30-Direction diffusion-tensor-imaging was done. MRI injury was scored across 32 components. Functional assessment using Gross Motor Functional Classification System-Expanded and Revised (GMFCS-ER) and Bimanual Fine Motor Functional Classification System (BFMFCS). Cognition using Vineland Social Maturity Scale (VSMS) [and Raven-Coloured Progressive Matrix where applicable]. Internal consistency was assessed using Cronbach’s alpha; associations were tested using chi-square/Fisher’s Exact test and Spearman correlation; linear regression evaluated the MRI score-fractional anisotropy (FA) relationship. Results:Mean age-66.74±41.09 months; 73.1%-male. Spastic Quadriparetic CP predominated (76.3%). MRI injury was mild (46.2%), moderate (44.1%) and severe (9.7%). MRI injury severity was significantly associated with CP type (p=0.033), GMFCS-ER (p=0.0001), BFMFCS (p=0.0001), and VSMS-based IQ (p=0.002). MRI injury severity correlated significantly with GMFCS-ER(r=0.548,p<0.001), BFMFCS (r=0.549,p=0.001), VSMS(r=0.457, p<0.001). Cronbach’s alpha was 0.88. Higher MRI injury scores were associated with lower FA (regression coefficient = -0.264,p=0.011;r= -0.334, p=0.01).
Genital tuberculosis affecting prepubertal girls is extremely uncommon, posing a great diagnostic challenge. It is a form of extrapulmonary tuberculosis usually seen in the reproductive age group. It can lead to significant health problems, including infertility, pelvic pain, menstrual irregularities in women, or amenorrhea. Genital tuberculosis is even rarer when coupled with an imperforate hymen, thus presenting a rare and diagnostically challenging presentation. Imperforate hymen is an uncommon obstructive congenital abnormality of the female reproductive tract with an incidence of 0.05–0.1
BACKGROUND:Major depressive disorder (MDD) is a prevalent and debilitating psychiatric condition defined by complex genetic and neurobiological underpinnings. The current study investigated the genetic variants associated with the disease and impact of significant variants on neurotransmitter pathways and their association with inherent brain connectivity patterns in MDD. METHODS:A total of 69 patients diagnosed with MDD were recruited. Whole-exome sequencing (WES) was carried out in 30 patients to identify relevant genetic variants. This was followed by the genotyping of two frequently observed variants in TPH1 (rs1799913) and DAOA (rs2391191) genes in additional 39 patients using Sanger Sequencing. All subjects participated in resting-state functional MRI (rs-fMRI), and genotype-connectivity associations were analysed using the CONN toolbox. Functional connectivity was evaluated within the Default Mode Network (DMN), and its associations with HAM-D scores and the incidence of depressive episodes were also examined. RESULTS:WES revealed variants in 21 genes involved in neurotransmission, synaptic plasticity, and intracellular signaling pathways. Individuals possessing altered TPH1 (rs1799913) and DAOA (rs2391191) genotypes demonstrated significantly increased connectivity within the DMN, particularly involving the posterior cingulate cortex, precuneus, dorsomedial prefrontal cortex, and subcalcarine gyrus. The heightened synchrony of the DMN exhibited a positive correlation with the severity of the Hamilton Depression Rating Scale and the occurrence of depressive episodes, suggesting a relationship between genotype, connectivity, and symptoms. CONCLUSION:This study demonstrates that variations in TPH1 (rs1799913) and DAOA (rs2391191) genes are associated with atypical reinforcement of DMN connectivity in MDD. The findings support the role of serotonergic and glutamatergic pathways in maladaptive neural coupling and suggest that genotype-stratified DMN metrics may serve as intermediate neural phenotypes. Their status as disease-specific endophenotypes cannot be established in the absence of healthy or familial comparison groups. Further comprehensive, longitudinal research is essential to validate these results and evaluate their relevance for tailored interventions.
PLA2G6-associated neurodegeneration (PLAN) is a rare subtype of neurodegeneration with brain iron accumulation (NBIA). It encompasses infantile neuroaxonal dystrophy (INAD), atypical neuroaxonal dystrophy (ANAD), and dystonia-parkinsonism (DP). This study, one of the largest cohorts from India, reports ten children of Indian origin, their clinical, radiological, and genetic features. Clinical features included global development delay, neuro-regression, ataxia, nystagmus, gait impairment in infantile onset forms and dystonia, behavioral issues and parkinsonism in childhood onset forms. MRI showed cerebellar atrophy as characterized in literature. However, iron deposition patterns characteristic of other NBIA, like ‘eye of the tiger’ sign in PKAN and ‘globus pallidus split sign’ in MPAN were seen in one patient each which is novel to PLAN and not reported before. Treatment was mainly supportive therapy. Levodopa yielded partial benefit in two children. Most patients progressed to severe motor disability.
To investigate brain melanin deposition on magnetic resonance imaging (MRI) in hypomelanosis of Ito (HI) by presenting two clinical cases and reviewing relevant literature. Two patients clinically diagnosed with HI underwent comprehensive neurological and systemic evaluations. Detailed MRI was performed to identify parenchymal changes suggestive of melanin deposition. A literature review was conducted to compare the imaging findings and discuss embryological and neurocutaneous correlations. Both cases presented with typical hypopigmented cutaneous lesions but without dysmorphic features. MRI of the first child revealed left hemimegalencephaly, diffuse white matter abnormalities, and multiple nodular lesions that were T2-hypointense and T1-hyperintense, suggesting possible intracranial melanosis. In contrast, MRI of the second patient demonstrated T2 hyperintensities in the juxtacortical white matter of the medial occipital lobe with blooming on susceptibility-weighted imaging sequences; however, hemimegalencephaly was absent. Histological confirmation was not possible due to lack of consent for brain biopsy. We report a rare case of probable intracranial melanin deposition in HI, inferred from characteristic MRI signal patterns. These findings may reflect aberrant melanocyte migration into the brain, consistent with their shared neural crest origin with neurons. Although histopathological verification was not feasible, our observations underscore the need for further pathological validation and exploration of the neurocutaneous interface in pigmentary disorders.
BACKGROUND AND OBJECTIVE:There is a paucity of data comparing the direct puncture trocar technique and the Seldinger technique for the drainage of pleural fluid collections with respect to technical and clinical success rates and complication rates. METHODS:The pleural fluid collections were drained using either the direct puncture trocar or the Seldinger technique by a single operator under ultrasound guidance. Technical success rates, clinical success rates, pain scores determined using a visual analog scale, complication rates, and mortality rates were compared between the two techniques. RESULTS:A total of 94 patients were included in the analysis. Technical success was achieved in 97.87% of cases in the Seldinger group and 91.48% in the direct puncture trocar group ( P = 0.30). Clinical success was achieved in 90.09% of cases in the Seldinger group and 89.13% in the direct puncture trocar group ( P = 0.50). Patients experienced more pain with the Seldinger technique in the immediate periprocedural period (median visual analog scale [VAS] score of 6) as compared to the direct puncture trocar group (median VAS score of 5) [ P = 0.003]. Direct puncture trocar technique was significantly faster (mean procedure duration of 4.30 ± 2.41 min (direct puncture trocar group) vs 7.89 ± 2.12 min (Seldinger group) [ P = 0.00]). CONCLUSION:The direct puncture trocar technique appears to provide comparable technical and clinical success to the Seldinger technique for ultrasound-guided pleural drainage, with shorter procedural duration and lower immediate pain perception. Larger randomized studies are required to confirm these findings.
This case presents an early adolescent girl who initially presented with clinical features overlapping Bickerstaff brainstem encephalitis and Miller Fisher syndrome, including progressive lower limb weakness, cranial neuropathies, hyperreflexia, positive Babinski sign and hypersomnolence following a gastrointestinal illness. MRI revealed brainstem involvement, and cerebrospinal fluid analysis showed albumin cytologic dissociation. Further investigations revealed a positive serum anti-GQ1b antibody titre of 1:160, leading to a diagnosis of anti-GQ1b antibody syndrome. She was treated with immunotherapy (intravenous immunoglobulin), which resolved her symptoms. These overlapping conditions share anti-GQ1b positivity but differ in clinical and radiological findings, emphasising the importance of recognising this evolving autoimmune spectrum for timely diagnosis and management.
Background Resting-state functional connectivity analysis has a potential to unearth the putative neuronal underpinnings of various disorders of the brain. Major depressive disorder (MDD) is regarded as a disorder arising from alterations in functional networks of the brain. Purpose There is paucity of literature on resting-state functional magnetic resonance imaging (Rs-fMRI) in MDD, especially from the Indian subcontinent. The purpose of our study was to elucidate the differences in Rs-fMRI connectivity between MDD patients and age and gender matched healthy controls (HC). Methods In this prospective single institute-based study, the patients were recruited consecutively based on Hamilton depression rating scale (HAM-D). Age and gender matched HC were also recruited. Rs-fMRI and anatomical MRI images were acquired for all the subjects (MDD and HC group) and subsequent analysis was done using the CONN toolbox. Results A total of 49 subjects were included in the final analysis (MDD = 28 patients, HC = 21). HAM-D score was noted to be 24.4 ± 4.8 in the MDD group. There was no significant difference between MDD and HC groups as far as age, gender, employment status, and level of education is concerned. Region-of-interest-based analysis of Rs-fMRI data showed a significantly lower connectivity between the left insula and left nucleus accumbens and between left paracingulate gyrus and bilateral posterior middle temporal gyri in MDD group as compared to HC group. Conclusion There is reduced connectivity between certain key regions of the brain in MDD patients, that is, between the left insular cortex and the left nucleus accumbens and between the left paracingulate gyrus and the bilateral posterior middle temporal gyrus. These findings could explain the basis of clinical features of MDD such as anhedonia, rumination of thoughts, reduced visuo-spatial comprehension, reduced language function, and response to external stimuli.
X-linked lissencephaly is associated with a hemizygous mutation in DCX gene located on the X-chromosome. DCX mutation causes classic lissencephaly in males and subcortical laminar heterotopia in females. Neuronal migration arrest leads to pachygyria and the arrested neurons are noted along the path of neuronal migration between the periventricular region and the cortex. Diffusion tensor imaging in cases of lissencephaly shows abnormal radial arrangement of fibers within the cortex in a "hairon-end" pattern. We demonstrate this "hair-on-end" pattern of fibers within the thickened cortex in a case of lissencephaly due to a pathogenic mutation in DCX gene confirmed on next generation whole exome sequencing.
This case describes a female toddler who presented with status epilepticus, altered sensorium and hemiparesis after a trivial trauma, initially raising suspicion for acute ischaemic stroke. However, genetic analysis identified a novel heterozygous CACNA1A mutation, confirming developmental and epileptic encephalopathy. The child was subsequently started on targeted therapy with flunarizine, acetazolamide and antiepileptic medications, which led to effective seizure control and neurological improvement. This case emphasises the need to consider CACNA1A-associated encephalopathy in children presenting with post-traumatic seizures and encephalopathy, as early diagnosis facilitates individualised treatment and may alter disease trajectory.
A boy in his middle childhood who was premorbidly normal presented with new-onset seizures and progressive auditory aphasia, raising suspicion of Landau-Kleffner Syndrome (LKS). Continuous spike and wave during sleep with a left centrotemporal spike pattern on the electroencephalogram (EEG) supported the preliminary diagnosis. But the febrile episodes after admission and the MRI findings suggestive of autoimmune encephalitis changed the diagnostic considerations. A repeat EEG performed had an extreme delta brush pattern, a finding strongly suggesting the possibility of autoimmune encephalitis. Confirmed with N-methyl-D-aspartate (NMDA) antibody positivity in cerebrospinal fluid, establishing NMDA receptor encephalitis (NMDARE). Despite the different pathways of pathogenesis, there is significant clinical overlap between LKS and NMDARE, including speech regression and seizures in our index case. The child was managed with immunotherapy and seizure control measures, showing significant clinical improvement. This case illustrates the clinical overlap of LKS and NMDARE, also highlighting the critical role of NMDA receptors in speech and language, suggesting the need for early evaluation and prompt immunotherapy in cases with atypical presentations.