A Fatal Case of Presumptive Diagnosis of Leptospirosis Involving the Central Nervous System.

Leptospirosis is a reemerging zooanthroponosis with a worldwide distribution, though it has a higher incidence in areas with tropical climate. A characteristic finding of the disease is its wide spectrum of symptoms and organ involvement, as it can appear either with very mild flu-like manifestations or with multiorgan failure, affecting the central nervous system (CNS) with a concomitant hepatorenal dysfunction (Weil's syndrome) and significant high mortality rate. We report herein a fatal case of a 25 years old female, previously healthy, with impaired neurological status. She had high fever and severe multiorgan failure. The clinical data and the epidemiological factors were not conclusive for the diagnosis, and the first serology test from the cerebrospinal fluid (CSF) and sera samples were negative. When the repetition of the blood test showed elevated IgM antibodies, Leptospirosis was the presumptive diagnosis. Although CNS involvement is rare, the diagnosis should be considered when there is an elevated risk of exposure. The diagnostic protocol should encompass direct evidence of the bacterium and indirect measurement of antibodies. Timely detection and management are imperative to forestall complications and fatality associated with the disease.

Treat, follow-up, or discharge? An aid in sonographic decisions for the borderline centered neonatal/infantile hips.

Aim: To investigate whether linear measurements or ratios on the Graf's "standard plane" ultrasound images of the neonatal/infantile hip, can support the clinically important differentiation between type I and type II hips. Material and methods: A total of 60 Graf type II hips and 124 randomly selected Graf type I hips, matched to the gestational age at delivery, birth weight, delivery mode, and age at the time of the examination, were identified through our hip screening service, during a period of two years. The images were diagnostically suitable, following anatomical identification and usability check, according to Graf. Anatomical landmarks including the lower limb of the os ilium, the bony rim, the silhouette of the os ilium, the labrum and the femoral head's borders, were used to determine the measurements and ratios which quantified their inter-relationships. Results: The indices which differed significantly between type I and type II hips included: (a) the width of the "bony roof" (cut-off value 5.91 mm, sensitivity: 75%, specificity: 70%), (b) the ratio of the width of the "bony roof" to the femoral head's width (cut-off value 0.40, sensitivity 83%, specificity 71%), and (c) the ratio of the cartilaginous acetabular roof's width (including the labrum), to the width of the femoral head (cut-off value 0.450, sensitivity 82%, specificity 67%). Conclusions: Newly introduced measurements and calculated ratios on "standard plane" ultrasound images can be used as additional indices in the differentiation between Graf's types of "centered hips", thus increasing the diagnostic certainty of the examiner in borderline cases and limiting unnecessary re-examinations or treatment.

Imaging of Acute Complications of Community-Acquired Pneumonia in the Paediatric Population-From Chest Radiography to MRI.

The most common acute infection and leading cause of death in children worldwide is pneumonia. Clinical and laboratory tests essentially diagnose community-acquired pneumonia (CAP). CAP can be caused by bacteria, viruses, or atypical microorganisms. Imaging is usually reserved for children who do not respond to treatment, need hospitalisation, or have hospital-acquired pneumonia. This review discusses the imaging findings for acute CAP complications and the diagnostic role of each imaging modality. Pleural effusion, empyema, necrotizing pneumonia, abscess, pneumatocele, pleural fistulas, and paediatric acute respiratory distress syndrome (PARDS) are acute CAP complications. When evaluating complicated CAP patients, chest radiography, lung ultrasonography, computed tomography (CT), and magnetic resonance imaging (MRI) can be used, with each having their own pros and cons. Imaging is usually not needed for CAP diagnosis, but it is essential for complicated cases and follow-ups. Lung ultrasound can supplement chest radiography (CR), which starts the diagnostic algorithm. Contrast-enhanced computed tomography (CECT) is used for complex cases. Advances in MRI protocols make it a viable alternative for diagnosing CAP and its complications.

Disseminated Bacillus Calmette-Guérin (BCG) infection presenting as severe respiratory failure and septic shock.

Introduction: Intravesical Bacillus Calmette-Guérin (BCG) instillation is the most effective adjuvant therapy for superficial urinary bladder carcinoma, prolonging disease-free survival. Although it is usually well tolerated, moderate to severe local or systemic infectious complications, including sepsis involving multiple organs, may occur. Case report: We report the unusual case of a man in his mid '70s who presented with septic shock and severe acute respiratory failure requiring intubation. Lack of response to antibiotics, history of intravesical BCG instillation and consistent imaging findings led to further investigations, with bronchoalveolar lavage (BAL) fluid polymerase chain reaction (PCR) results indicating pneumonitis due to Mycobacterium bovis dissemination. Prompt anti-tuberculosis treatment combined with corticosteroids resulted in significant clinical and radiological improvement, supporting the diagnosis of disseminated BCG infection. Conclusions: Due to its non-specific clinical presentation and the relatively low diagnostic yield of conventional microbiological tests, a high index of suspicion is required for prompt diagnosis and treatment of systemic BCG infection. PCR-based assays for mycobacterial DNA identification may represent a valuable tool facilitating timely diagnosis of this uncommon, yet potentially life-threatening infection.

International Consensus Statement on the Radiological Screening of Contact Children in the Context of Suspected Child Physical Abuse.

Importance: Physical abuse is a common but preventable cause of long-term childhood morbidity and mortality. Despite the strong association between abuse in an index child and abuse in contact children, there is no guidance outlining how to screen the latter, significantly more vulnerable group, for abusive injuries. Consequently, the radiological assessment of contact children is often omitted, or variably performed, allowing occult injuries to go undetected and increasing the risk of further abuse. Objective: To report an evidence-based and consensus-derived set of best practices for the radiological screening of contact children in the context of suspected child physical abuse. Evidence Review: This consensus statement is supported by a systematic review of the literature and the clinical opinion of an internationally recognized group of 26 experts. The modified Delphi consensus process comprised 3 meetings of the International Consensus Group on Contact Screening in Suspected Child Physical Abuse held between February and June 2021. Findings: Contacts are defined as the asymptomatic siblings, cohabiting children, or children under the same care as an index child with suspected child physical abuse. All contact children should undergo a thorough physical examination and a history elicited prior to imaging. Contact children younger than 12 months should have neuroimaging, the preferred modality for which is magnetic resonance imaging, and skeletal survey. Contact children aged 12 to 24 months should undergo skeletal survey. No routine imaging is indicated in asymptomatic children older than 24 months. Follow-up skeletal survey with limited views should be performed if abnormal or equivocal at presentation. Contacts with positive findings should be investigated as an index child. Conclusions and Relevance: This Special Communication reports consensus recommendations for the radiological screening of contact children in the context of suspected child physical abuse, establishing a recognized baseline for the stringent evaluation of these at-risk children and providing clinicians with a more resilient platform from which to advocate for them.

Controversial aspects of imaging in child abuse: a second roundtable discussion from the ESPR child abuse taskforce.

This second roundtable discussion was convened at the 56th European Society of Paediatric Radiology (ESPR) 2022 Annual Meeting in Marseille, France, to discuss controversial aspects of imaging in child abuse. The following topics were discussed: Fracture dating-the published literature is broadly similar with respect to the identification of the radiographic stages of bony healing. The non-expert/general radiologist is encouraged to use broad descriptors of fracture healing (acute, healing or old) within their reports, rather than attempting to date fractures. The more experienced/expert radiologist, who may provide a timeframe/range to assist the courts, should be aware that any published timeframes are not absolute and that recent research indicates that the rate of healing may differ according to the bone affected and the age of the patient. Whole spine imaging in suspected abusive head trauma-this is recommended to enable a complete assessment of the neuraxis when abusive head trauma is suspected or diagnosed, particularly in the presence of intracranial and cervical subdural haemorrhage and cervical ligamentous injury. Cranial imaging in suspected physical abuse-both computed tomography (CT) and magnetic resonance imaging (MRI) remain complimentary depending on the clinical context in which they are used with CT remaining first-line in the assessment of children with (suspected abusive) head trauma prior to an early MRI. MRI is superior in its assessment of parenchymal injury and may be employed as first-line in age appropriate asymptomatic siblings of a child with suspected physical abuse.

Benign enlargement of the subarachnoid spaces and subdural collections-when to evaluate for abuse.

In infants without a history of trauma, subdural haemorrhages should raise the concern for an abusive head injury, particularly when they are associated with bridging vein clotting/rupture or with septations. However, non-haemorrhagic, fluid-appearing subdural collections (also called hygromas) may also be the result of abuse. Subdural collections have also been uncommonly observed in patients with benign enlargement of the subarachnoid spaces (BESS) and a few large-scale studies accurately investigate the incidence and the significance. Currently, there is a wide variation of practices in children with BESS and subdural collections. Due to the social risks associated with abuse evaluation and the perceived risk of radiation exposure, there might be a reluctance to fully evaluate these children in some centres. The diagnosis of physical abuse cannot be substantiated nor safely excluded in infants with BESS and subdural collection(s), without investigation for concomitant traumatic findings. The exact prevalence of occult injuries and abuse in these infants is unknown. In macrocephalic infants with subdural collections and imaging features of BESS, thorough investigations for abuse are warranted and paediatricians should consider performing full skeletal surveys even when fundoscopy, social work consult, and detailed clinical evaluation are unremarkable.

European recommendations on practices in pediatric neuroradiology: consensus document from the European Society of Neuroradiology (ESNR), European Society of Paediatric Radiology (ESPR) and European Union of Medical Specialists Division of Neuroradiology (UEMS).

Pediatric neuroradiology is a subspecialty within radiology, with possible pathways to train within the discipline from neuroradiology or pediatric radiology. Formalized pediatric neuroradiology training programs are not available in most European countries. We aimed to construct a European consensus document providing recommendations for the safe practice of pediatric neuroradiology. We particularly emphasize imaging techniques that should be available, optimal site conditions and facilities, recommended team requirements and specific indications and protocol modifications for each imaging modality employed for pediatric neuroradiology studies. The present document serves as guidance to the optimal setup and organization for carrying out pediatric neuroradiology diagnostic and interventional procedures. Clinical activities should always be carried out in full agreement with national provisions and regulations. Continued education of all parties involved is a requisite for preserving pediatric neuroradiology practice at a high level.

Pediatric tumefactive multiple sclerosis case (with baló-like lesions), diagnostic and treatment challenges.

BACKGROUND: Multiple sclerosis (MS) is a demyelinating disease of the central nervous system, rare during childhood. MS variations, like tumefactive MS and Balo concentric sclerosis, constitute puzzling to treat diagnostic dilemmas for pediatric patients. Differential diagnosis, mainly from brain tumors, is an absolute necessity. In addition, apart from treating acute attacks, immunomodulatory alternatives are limited. CASE: We present a 12.5-year-old boy diagnosed, 5 years ago, with tumefactive relapsing-remitting MS, with severe recurrent clinical attacks. Definite diagnosis of demyelination was achieved via combined brain imaging including magnetic resonance (MR) imaging, MR spectroscopy and computed tomography, avoiding brain biopsy. Acute attacks showed satisfactory response to aggressive treatment choices, like plasmapheresis and cyclophosphamide, but age-appropriate immunomodulating treatment was available, only 2 years later. Finally, after a last radiological relapse, when he was 10 years old, fingolimod was initiated. He has been clinically and radiologically stable since, presenting an excellent treatment tolerance.

HRCT findings in secondhand smokers with respiratory symptoms.

PURPOSE: The present study aims to investigate the occurrence and severity of HRCT abnormalities in symptomatic never-smokers, passively exposed to cigarette smoke. MATERIALS AND METHODS: A total of 135 never-smokers with respiratory symptoms, without underlying lung disease, underwent paired inspiratory-expiratory HRCT and completed the secondhand smoking (SHS) exposure scale questionnaire. Individuals passively exposed to tobacco consisted the secondhand smoking group (SHS group) (n = 68); the remaining 67 controls were never exposed to SHS. Statistical analysis was performed using the Kolmogorov-Smirnov, x2 and Pearson Point-Biserial correlation tests. P < 0.05 was statistically significant. RESULTS: HRCT findings in SHS group included bronchial wall thickening (98.5%), mild cylindrical bronchiectasis (44%), ground-glass opacities (17.6%), and mosaic attenuation pattern (53%). Air trapping occurred in 65% of expiratory scans. Differences in occurrence of findings between SHS group participants and controls were statistically significant (p < 0.0001). There was significant correlation between exposure to tobacco smoke in hours/day and in number of cigarettes/day and the presence of mosaic attenuation pattern, ground-glass opacities, cylindrical bronchiectasis and air trapping, respectively (p < 0.05). Cumulative SHS exposure in years was also strongly correlated with the presence of ground-glass opacities, mosaic attenuation pattern, cylindrical bronchiectasis, and air trapping, as well as with the frequency of respiratory symptoms (p < 0.05). CONCLUSION: HRCT findings attributed to SHS are mostly related to airway involvement and are correlated with the duration and grade of exposure to environmental tobacco smoke. SHS followed by lifestyle adjustments should be considered in symptomatic non-smokers with such HRCT findings.

Abnormal gait and hypoglycorrhachia in a toddler with seizures.

Introduction: Glucose transporter type 1 (Glut1) deficiency syndrome is a treatable neurometabolic disorder characterized by seizures, developmental delay, and hypoglycorrhachia. Due to the rareness and non-specific clinical manifestations, it is usually mis- or underdiagnosed. Case presentation: We report the case of a toddler who presented with afebrile epileptic seizures and abnormal gait. Brain imaging and electroencephalogram were normal. Further investigation of the cerebrospinal fluid revealed hypoglycorrhachia that was the clue to the diagnosis of Glut1 deficiency syndrome and the initiation of treatment with ketogenic diet. Conclusion: Our case highlights the importance of lumbar puncture while investigating a child with epileptic seizures and abnormal gait or developmental delay, in order not to miss treatable neurometabolic conditions, such as Glut1 deficiency syndrome.

Challenges in the Diagnosis of Viral Encephalitis in Children: The Case of Two Siblings.

Encephalitis in children may lead to adverse outcomes and long-term neurodevelopmental sequelae. The prompt identification of the causative agent is important to guide proper management in cases with encephalitis; however, the etiology often remains undetermined. The use of polymerase chain reaction (PCR) analysis in the cerebrospinal fluid (CSF) has increased the diagnostic yield in encephalitis cases; however, it may be occasionally misleading. In this article, we describe the case of a male immunocompetent child with encephalitis in which human herpesvirus-7 (HHV-7) was detected in CSF by PCR. As the detection of HHV-7 DNA in the CSF alone is insufficient to prove an etiologic association of severe encephalitis in immunocompetent children, alternative diagnoses were pursued. Enterovirus (E-11) was detected by PCR analysis of the nasopharyngeal and rectal swabs of the male patient. The final diagnosis was facilitated by the findings in his sibling, which presented concurrently with enteroviral encephalitis. Failure to detect enterovirus in the CSF by PCR does not exclude enteroviral encephalitis; screening of other samples, from other body sites, may be necessary to identify the virus, and physicians should take into consideration all evidence, including history, clinical presentation, and sick contacts' clinical status.

Specific characteristics and current diagnostic and treatment modalities performance of super refractory status epilepticus in children: A comparative study.

OBJECTIVE: Super-refractory status epilepticus (SRSE) is associated with significant morbidity and mortality in children. We explored the clinical spectrum, specific characteristics, and outcome in SRSE patients admitted in a pediatric intensive care unit (PICU) and investigated how well current diagnostic or treatment modalities perform compared to Status Epilepticus (SE) and Refractory SE (RSE) patients. METHODS: Retrospective analysis of PICU patients admitted with convulsive SE during 2009-2019. Eighty-six patients were classified as SE, RSE, and SRSE. New-onset RSE (NORSE) and febrile infection-related epilepsy syndrome (FIRES) were also identified. Functional outcome was evaluated by the modified Rankin scale. RESULTS: Patients with SRSE (n = 20) had longer weaning off anesthetics (p = 0.014), length of stay, mechanical ventilation duration, higher illness severity scores, and poorer outcome compared to SE (n = 13) or RSE (n = 53) patients (all p < 0.001). Diagnosis, mainly expressed by high prevalence of NORSE (n = 13) and FIRES (n = 9), was independently associated with SRSE (p = 0.024). Abnormal MRI findings (p = 0.005), and epilepsy-related pathogenic variants identified by whole-exome sequencing (WES) were mostly found in SRSE patients. Compared to intravenous immunoglobulins and steroid pulses, plasmapheresis and ketogenic diet, more often used in SRSE (p < 0.01), contributed better to seizure control. Only SRSE (AUROC > 0.80, 95% CI = 0.68-0.94, p < 0.001) and diagnosis (AUROC > 0.70, 95% CI = 0.55-0.83, p = 0.02) could predict a poor outcome. CONCLUSION: The majority of SRSE patients are characterized by considerable functional decline and morbidity. WES analysis may reveal epilepsy-related pathogenic variants while early aggressive immunotherapy and/or ketogenic diet might prove beneficial. Multicenter studies for prediction models of outcome are needed.

Visceral Varicella-Zoster Virus Infection Presenting with Severe Abdominal Pain without a Rash in a Patient with Psoriatic Arthritis Treated with Infliximab Biosimilar and Steroids: A Case Report.

Visceral herpes zoster following reactivation of dormant varicella-zoster virus can rarely occur, usually in highly immunosuppressed patients, and may present with abdominal pain without the relevant rash. In the absence of skin manifestations, diagnosis of visceral herpes zoster is extremely difficult, while computed tomography may reveal isolated periarterial fat stranding. We describe a rare case of visceral herpes zoster in a medically immunocompromised adult with psoriatic arthritis, who presented with acute abdomen, was diagnosed based on computed tomography findings and subsequent serum polymerase chain reaction results, and was appropriately treated with an uneventful recovery. This case underlines the significance of considering varicella-zoster virus infection as a cause of severe abdominal pain even in the absence of rash in this setting, and highlights the potential role of appropriately performed computed tomography in such unusual and complex cases, where early diagnosis and initiation of treatment is extremely important for a favorable outcome.

Genetic cause of epilepsy in a Greek cohort of children and young adults with heterogeneous epilepsy syndromes.

We describe a cohort of 10 unrelated Greek patients (4 females, 6 males; median age 6.5 years, range 2-18 years) with heterogeneous epilepsy syndromes with a genetic basis. In these patients, causative genetic variants, including two novel ones, were identified in 9 known epilepsy-related genes through whole exome sequencing. A patient with glycine encephalopathy was a compound heterozygote for the p.Arg222Cys and the p.Ser77Leu AMT variant. A patient affected with Lafora disease carried the homozygous p.Arg171His EPM2A variant. A de novo heterozygous variant in the GABRG2 gene (p.Pro282Thr) was found in one patient and a pathogenic variant in the GRIN2B gene (p.Gly820Val) in another patient. Infantile-onset lactic acidosis with seizures was associated with the p.Arg446Ter PDHX gene variant in one patient. In two additional epilepsy patients, the p.Ala1662Val and the novel non-sense p.Phe1330Ter SCN1A gene variants were found. Finally, in 3 patients we observed a novel heterozygous missense variant in SCN2A (p.Ala1874Thr), a heterozygous splice site variant in SLC2A1 (c.517-2A>G), as a cause of Glut1 deficiency syndrome, and a pathogenic variant in STXBP1 (p.Arg292Leu), respectively. In half of our cases (patients with variants in the GRIN2B, SCN1A, SCN2A and SLC2A1 genes), a genetic cause with potential management implications was identified.

Introducing a Radiography-based Score in Children With Acute Respiratory Failure: A Cross-sectional Study.

PURPOSE: Respiratory failure (RF) is one of the most common reasons for hospitalization in pediatric intensive care units (PICU). We propose a radiography-based severity score for the assessment of children with RF and investigate the possible associations with severity indices and outcome. MATERIALS AND METHODS: Children with acute RF admitted in PICU were enrolled. Disease severity scores [Pediatric Risk of Mortality (PRISM) and Pediatric Logistic Organ Dysfunction (PELOD)], the ratio of partial pressure arterial oxygen and fraction of inspired oxygen (PaO2/FiO2) ratios, duration of ventilator support (DVS), length of PICU and hospital stay (LOS), and outcome were recorded. A 5-point radiography score that considered potential radiographic findings was derived through stepwise multivariable logistic regression analysis, and validated. Radiographs upon PICU admission and on the worst RF day (maximum respiratory support and worst oxygenation/ventilation parameters) were blindly reviewed and independently scored by 2 radiologists and 2 clinicians, following training. RESULTS: We enrolled 104 children [median age 2.7 (interquartile range, 0.5 to 9.6) y, 65.4% boys]. Overall, 163 radiographs (PICU admission: 86, worst RF day: 77) were assessed. Radiography scores correlated positively with predicted mortality (PELOD, PRISM), DVS, LOS (all P<0.001) and inversely with PaO2/FiO2 (P<0.001). Scores differed among diagnostic categories (P<0.05); patients with acute respiratory distress syndrome, air-leaks, drowning, and pneumonia scored the highest (P<0.005). Radiography scoring trends indicating deterioration were associated with prolonged DVS, PICU, and hospital LOS (P<0.001). Agreement between all raters was good (κ=0.7, P<0.001). CONCLUSIONS: This novel radiography score for children with RF, associated with clinical severity scores, mortality risk, duration of ventilatory support, and hospitalization, follows a simple structured approach and can be readily utilized by radiologists and pediatricians as a bedside tool for stratification of disease severity and prognosis.

Radiation exposure to infants undergoing voiding cystourethrography: The importance of the digital imaging technology.

PURPOSE: To determine the radiation burden to infants undergoing voiding cystourethrography (VCUG) in a single institution and investigate the effect of shifting from analogue to digital imaging that allowed the use of a radiography-free examination protocol. METHODS: Anthropometric and exposure data were prospectively collected for 35 consecutive infants undergoing VCUG on a digital system with a standardized examination protocol not including radiographs. Thermoluminescent dosimeters were used to determine entrance-skin dose. Monte Carlo simulations and patient-specific anthropomorphic phantoms were employed to determine organ/tissue doses and effective dose (ED). The associated theoretical risk of radiation-induced cancer was determined and compared to the nominal risk of cancer induction. The radiation burden from VCUG on a modern digital system with a contemporary examination protocol was compared to corresponding data reported previously for an analogue system in the same institution. RESULTS: The median ED from VCUG was found 47 µSv. The associated total life attributable risk of radiation-induced cancer was found 10x10-6 and 13x10-6 for boys and girls, respectively. VCUG was found to increase the nominal risk of cancer by a factor of 1.000025 in boys and 1.000034 in girls. Shifting from analogue to digital imaging system resulted in 89% reduction of the radiation burden from VCUG. CONCLUSION: The theoretical radiation risks for infants undergoing VCUG using a modern digital imaging system and a radiography-free protocol were found to be minor. The transition from analogue to digital equipment resulted in considerable reduction of the radiation burden from VCUG.