Wilson’s disease: Atypical Imaging features

Wilson’s disease is a genetic movement disorder with characteristic clinical and imaging features. We report a 17-year-old boy who presented with sialorrhea, hypophonic speech, paraparesis with repeated falls and recurrent seizures along with cognitive decline. He had bilateral Kayser Flescher rings. Other than the typical features of Wilson’s disease in cranial MRI, there were extensive white matter signal abnormalities (T2 and FLAIR hyperintensities) and gyriform contrast enhancement which are rare imaging features in Wilson's disease. A high index of suspicion is required to diagnose Wilson’s disease when atypical imaging features are present

WILSON’S DISEASE: ATYPICAL IMAGING FEATURES

Wilson’s disease is a genetic movement disorder with characteristic clinical and imaging features. We report a 17- year-old boy who presented with sialorrhea, hypophonic speech, paraparesis with repeated falls and recurrent seizures along with cognitive decline. He had bilateral Kayser Flescher rings. Other than the typical features of Wilson’s disease in cranial MRI, there were extensive white matter signal abnormalities (T2 and FLAIR hyperintensities) and gyriform contrast enhancement which are rare imaging features in Wilson's disease. A high index of suspicion is required to diagnose Wilson’s disease when atypical imaging features are present

A Prospective Study to Compare the Diagnostic Value of Serum Procalcitonin and Crp in Early Onset Sepsis

Introduction: Neonatal sepsis is the most common cause of death in newborns in developing countries. Prompt diagnosis is the critical determinant in its outcome. As manifestations are often vague, clinically it is difficult to differentiate sepsis from non-infective conditions. Timely diagnosis is important as delay in initiation of antimicrobials can prove fatal. On the other hand empirical use of antibiotics not only increases the risk of antibiotic resistance but also delays the diagnosis of true condition. Procalcitonin (PCT) has been well evaluated in late onset sepsis but data pertaining to Early Onset Sepsis (EOS) are still lacking. We compared the diagnostic value of PCT and CRP (C-Reactive Protein) in EOS. Aim: To compare the diagnostic value of serum PCT and CRP in early onset sepsis. Materials and Methods: It was a prospective observational study conducted in Neonatal Intensive Care Unit of the Department of Paediatrics, Dr.S.N. Medical College, Jodhpur, India. All neonates delivered in hospitals attached to this medical college or referred here within 7 days of life and having ≥2 perinatal risk factors for sepsis or displaying clinical sepsis were included in the study. All enrolled neonates were subjected to sepsis screen, PCT levels and blood culture at birth or admission which ever was the earliest. PCT levels ≥ 0.5 ng/ml and CRP levels above 8mg/l were considered positive for EOS. Results: Sensitivity and negative predictive value of PCT were higher than CRP (90.12% vs. 50.62% and 93.33% vs. 79.06% respectively). Also it had a higher positive predictive value of 40.56% than CRP where it was 37.61%. CRP was more specific (68.95% vs. 51.4%) with overall higher diagnostic accuracy (0.64 vs. 0.61) in comparison to PCT. Conclusion: PCT is more sensitive and has a higher negative predictive value than CRP in early onset sepsis. Higher positive predictive value and specificity of CRP suggest that, PCT should not be used alone rather should be supplemented with CRP to correctly identify early onset neonatal sepsis

Reversible dementia: The imitation game

Rapidly progressive dementia (RPD) is an emergency in behavioural or cognitive neurology. Many rare neuroinfections like Neurosyphilis may be missed, if they are not thoroughly evaluated. We report a patient with subacute onset and progressive cognitive decline, extrapyramidal involvement and myoclonic jerks who was initially suspected as probable autoimmune encephalitis or Creutzfeldt-Jakob disease (CJD). Investigations revealed positive serum and cerebrospinal fluid (CSF) Venereal Disease Research Laboratory test (VDRL). On treatment with penicillin, he developed Jarisch-Herxheimer reaction and was treated symptomatically. After two weeks of penicillin, he improved significantly and except for mild short term memory recall, he is asymptomatic for last two years

Relationship between T2* magnetic resonance imaging-derived liver and heart iron content and serum ferritin levels in transfusion-dependent thalassemic children

Context: T2* magnetic resonance imaging (MRI) is being increasingly used for the assessment of organ iron content in thalassemics, but cost is a major prohibitive factor for repeated measurements. If serum ferritin correlates well with the T2* MRI liver and heart, it will be economical and more simple tool to assess organ iron deposition. Aims: The aim of this study was to find out the relationship between serum ferritin level and T2* MRI-derived liver and heart iron content in transfusion-dependent thalassemic children Settings: Thalassemia day-care center of a teaching hospital Design: This was a cross-sectional study Subjects And Methods: Seventy-three transfusion-dependent beta thalassemic children belonging to 2–18 years of age were subjected to T2* MRI of heart and liver to assess their iron content. Values obtained here were related to serum ferritin. Statistical Analysis Used: Keeping the correlation between serum ferritin and T2* MRI as primary outcome, spearman's correlation coefficient was calculated. Results: We found poor (negative) correlation between serum ferritin level and T2* MRI liver (r = -0.448, P = 0.000) but no correlation between serum ferritin and T2*MRI heart (r = -0.221, P = 0.060). Conclusions: Serum ferritin cannot reliably predict the liver and heart iron content in Indian children with β thalassemia

Incidence of congenital hypothyroidism in Western Rajasthan using cord blood thyroid-stimulating hormone levels as a screening tool: A cross-sectional hospital-based study

Background: Congenital hypothyroidism (CH) is considered the most common preventable cause of intellectual impairment, with a worldwide annual incidence of 1:4000 live births. In the absence of screening program actual incidence in India is not exactly known, but in previous studies it varies from 1:500 to 1:3400. We wished to find out the incidence of CH in Western Rajasthan using cord blood TSH as a screening tool and venous TSH within 14 days of life as a confirmatory test. Methods: This cross sectional descriptive study was conducted over a period of six months in teaching hospitals attached to Medical College. Cord blood TSH value of 20 mIU/L or >20 mIU/L was taken as cut off for screening and all screen positive neonates were re-tested for serum TSH by taking venous samples within 14 days of life. Repeat TSH levels of 20mIU/L or more tested by Enzyme Linked Fluorescent Assay were considered confirmatory. Results: Total 9558 cord blood samples were analyzed for TSH levels, out of which 533 came out to be screen positive (recall rate 5.57%). Out of these 58 could not be confirmed, so were excluded from the further analysis. Effective sample size and screen positive cases dropped to 9500 and 475 respectively, and out of these 13 were confirmed as CH (incidence - 1.37 per thousand live births). Conclusions: Considering the previous studies, incidence of CH is much higher in Western Rajasthan than the anticipated. Overall in India CH seems to be more prevalent than the other parts of the world, necessitating the need of national screening program

Clinical, molecular imaging and biomarker concordance in the diagnosis of Alzheimer’s disease and vascular dementia

BackgroundThe CSF and plasma biomarkers may help clinicians in differentiating between Alzheimer and Vascular dementia. Apart from biopsy, FDG PET, MRI Brain and clinical examination gives a reliable diagnosis of AD and VaD.AimsTo evaluate the correlation of molecular imaging (FDG PET brain) with CSF Alzheimer profile and Plasma hemostatic biomarkers in Mild Cognitive Impairment (MCI), Alzheimer’s disease (AD) and Vascular dementia (VaD).Methods Neuropsychological assessment, MRI brain, FDG-PET brain, CSF biomarkers of AD (Aβ42 and total tau) and plasma hemostatic biomarkers (Fibrinogen and D dimer) were done for evaluation.Results FDG PET Brain, plasma fibrinogen and D dimer were done in 68 patients. CSF biomarkers were done in 46 patients. Clinical-PET discordance was found in 7 patients. One patient of MCI-VaSC had a normal PET study with elevated hemoststic biomarkers. Those with clinical diagnosis of Alzheimer’s disease either had normal hemostatic biomarkers and supporting Alzheimer profile CSF biomarkers where they were done. The discordant vascular group had elevated plasma hemostatic biomarker with normal CSF profile. Even those who were reported as FTD in PET imaging had Alzheimer profile and normal hemostatic factors.ConclusionFDG PET brain findings were concordant with the CSF biomarkers (CSF Aβ42, Total tau and Tau/Aβ42 ratio) in Alzheimer’s disease and Haemostatic biomarkers (Plasma Fibrinogen and D dimer) in vascular dementia. In clinical and molecular imaging discordance, biomarkers help in making a reliable diagnosis which favours the clinical assessment

Clinical, molecular imaging and biomarker concordance in the diagnosis of Alzheimer’s disease and vascular dementia

Background The CSF and plasma biomarkers may help clinicians in differentiating between Alzheimer and Vascular dementia. Apart from biopsy, FDG PET, MRI Brain and clinical examination gives a reliable diagnosis of AD and VaD. Aims To evaluate the correlation of molecular imaging (FDG PET brain) with CSF Alzheimer profile and Plasma hemostatic biomarkers in Mild Cognitive Impairment (MCI), Alzheimer’s disease (AD) and Vascular dementia (VaD). Methods Neuropsychological assessment, MRI brain, FDG-PET brain, CSF biomarkers of AD (Aβ42 and total tau) and plasma hemostatic biomarkers (Fibrinogen and D dimer) were done for evaluation. Results FDG PET Brain, plasma fibrinogen and D dimer were done in 68 patients. CSF biomarkers were done in 46 patients. Clinical-PET discordance was found in 7 patients. One patient of MCI-VaSC had a normal PET study with elevated haemostatic biomarkers. Those with clinical diagnosis of Alzheimer’s disease either had normal hemostatic biomarkers and supporting Alzheimer profile CSF biomarkers where they were done. The discordant vascular group had elevated plasma hemostatic biomarker with normal CSF profile. Even those who were reported as FTD in PET imaging had Alzheimer profile and normal hemostatic factors. Conclusion FDG PET brain findings were concordant with the CSF biomarkers (CSF Aβ42, Total tau and Tau/Aβ42 ratio) in Alzheimer’s disease and Haemostatic biomarkers (Plasma Fibrinogen and D dimer) in vascular dementia. In clinical and molecular imaging discordance, biomarkers help in making a reliable diagnosis which favours the clinical assessment

Role of Plasma Clusterin in Alzheimer’s Disease—A Pilot Study in a Tertiary Hospital in Northern India

<div><p>Objective</p><p>To evaluate the role of plasma clusterin in Alzheimer’s disease (AD).</p><p>Background</p><p>Plasma clusterin is a promising biomarker as various studies have shown it to be associated with AD. But other studies have shown that plasma clusterin levels were not related to Alzheimer’s disease or presymptomatic AD. Hence the diagnostic value of plasma clusterin is still not conclusive.</p><p>Methods</p><p>Neuropsychological assessment, MRI brain, FDG-PET brain and CSF biomarkers of AD were used for establishing the diagnosis of MCI, AD or Vascular dementia. The CSF control group included patients who were having knee or hip surgery and plasma control group included the spouses of patients.</p><p>Results</p><p>Forty-six patients who gave consent for CSF examination and FDG PET brain were included in the study along with 19 control samples. Alzheimer’s group had 34 patients and Vascular group had 12 patients. Both had a significantly lower value of clusterin than the control samples (p<0.01). The median plasma clusterin level was 84.38 μg/ml in control group, 57.98μg/ml in Alzheimer’s group and 49.93μg/ml in the vascular group. Alzheimer and Vascular group did not differ in plasma clusterin levels. Moreover there was no correlation of plasma clusterin with AD severity. The sensitivity and specificity of plasma clusterin was low for any significance for clinical use.</p><p>Conclusion</p><p>Our pilot study shows that plasma clusterin is lower in Alzheimer’s disease with respect to control population. Plasma clusterin levels and severity of Alzheimer’s disease had no significant correlation. There was no difference in plasma clusterin between Alzheimer’s disease and Vascular Dementia. The sensitivity and specificity of plasma clusterin is low for any use in clinical practice. More studies are required to ascertain the utility of plasma clusterin as a biomarker in Alzheimer’s disease.</p></div