Terminal osseous dysplasia with pigmentary defects and cardiomyopathy caused by a novel FLNA variant

Terminal osseous dysplasia with pigmentary defects (TODPD), also known as digitocutaneous dysplasia, is one of the X‐linked filaminopathies caused by a variety of FLNA‐variants. TODPD is characterized by skeletal defects, skin fibromata and dysmorphic facial features. So far, only a single recurrent variant (c.5217G>A;p.Val1724_Thr1739del) in FLNA has found to be responsible for TODPD. We identified a novel c.5217+5G>C variant in FLNA in a female proband with skeletal defects, skin fibromata, interstitial lung disease, epilepsy, and restrictive cardiomyopathy. This variant causes mis‐splicing of exon 31 predicting the production of a FLNA‐protein with an in‐frame‐deletion of 16 residues identical to the miss‐splicing‐effect of the recurrent TODPD c.5217G>A variant. This mis‐spliced transcript was explicitly detected in heart tissue, but was absent from blood, skin, and lung. X‐inactivation analyses showed extreme skewing with almost complete inactivation of the mutated allele (>90%) in these tissues, except for heart. The mother of the proband, who also has fibromata and skeletal abnormalities, is also carrier of the FLNA‐variant and was diagnosed with noncompaction cardiomyopathy after cardiac screening. No other relevant variants in cardiomyopathy‐related genes were found. Here we describe a novel variant in FLNA (c.5217+5G>C) as the second pathogenic variant responsible for TODPD. Cardiomyopathy has not been described as a phenotypic feature of TODPD before

Imaging findings of multisystem inflammatory syndrome in children associated with COVID-19

[Background] A hyperinflammatory immune-mediated shock syndrome has been recognised in children exposed to the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), the virus that causes coronavirus disease 2019 (COVID-19).[Objective] To describe typical imaging findings in children with multisystem inflammatory syndrome associated with COVID-19.[Materials and methods] During the first wave of the COVID-19 pandemic, imaging studies and clinical data from children treated for multisystem inflammatory syndrome were collected from multiple centres. Standardised case templates including demographic, biochemical and imaging information were completed by participating centres and reviewed by paediatric radiologists and paediatricians.[Results] We included 37 children (21 boys; median age 8.0 years). Polymerase chain reaction (PCR) testing was positive for SARS-CoV-2 in 15/37 (41%) children and immunoglobulins in 13/19 children (68%). Common clinical presentations were fever (100%), abdominal pain (68%), rash (54%), conjunctivitis (38%) and cough (32%). Thirty-three children (89%) showed laboratory or imaging findings of cardiac involvement. Thirty of the 37 children (81%) required admission to the intensive care unit, with good recovery in all cases. Chest radiographs demonstrated cardiomegaly in 54% and signs of pulmonary venous hypertension/congestion in 73%. The most common chest CT abnormalities were ground-glass and interstitial opacities (83%), airspace consolidation (58%), pleural effusion (58%) and bronchial wall thickening (42%). Echocardiography revealed impaired cardiac function in half of cases (51%) and coronary artery abnormalities in 14%. Cardiac MRI showed myocardial oedema in 58%, pericardial effusion in 42% and decreased left ventricular function in 25%. Twenty children required imaging for abdominal symptoms, the commonest abnormalities being free fluid (71%) and terminal ileum wall thickening (57%). Twelve children underwent brain imaging, showing abnormalities in two cases.[Conclusion] Children with multisystem inflammatory syndrome showed pulmonary, cardiac, abdominal and brain imaging findings, reflecting the multisystem inflammatory disease. Awareness of the imaging features of this disease is important for early diagnosis and treatment.Peer reviewe

No Pathogenic DICER1 Gene Variants in a Cohort Study of 28 Children With Congenital Pulmonary Airway Malformation

Background: Distinguishing congenital pulmonary airway malformations (CPAMs) from pleuropulmonary blastoma (PPB) can be challenging. Previously diagnosed patients with CPAM may have been misdiagnosed and we may have missed DICER1-associated PPBs, a diagnosis with important clinical implications for patients and their families. To gain insight in potential misdiagnoses, we systematically assessed somatic DICER1 gene mutation status in an unselected, retrospective cohort of patients with a CPAM diagnosis. Methods: In the Amsterdam University Medical Center (the Netherlands), it has been standard policy to resect CPAM lesions. We included all consecutive cases of children (age 0–18 years) with a diagnosis of CPAM between 2007 and 2017 at this center. Clinical and radiographic features were reviewed, and DICER1 gene sequencing was performed on DNA retrieved from CPAM tissue samples. Results: Twenty-eight patients with a surgically removed CPAM were included. CPAM type 1 and type 2 were the most common subtypes (n = 12 and n = 13). For 21 patients a chest CT scan was available for reassessment by two pediatric radiologists. In 9 patients (9/21, 43%) the CPAM subtype scored by the radiologists did not correspond with the subtype given at pathology assessment. No pathogenic mutations and no copy number variations of the DICER1 gene were found in the DNA extracted from CPAM tissue (0/28). Conclusions: Our findings suggest that the initial CPAM diagnoses were correct. These findings should be validated through larger studies to draw conclusions regarding whether systematic DICER1 genetic testing is required in children with a pathological confirmed diagnosis of CPAM or not. Level of Evidence: Level IV

Understanding the prehospital physician controversy. Step 1: comparing competencies of ambulance nurses and prehospital physicians

Objective In many European countries prehospital care by emergency medical services (EMS) is supplemented by physician-staffed services. There is ongoing controversy on the benefits of a prehospital physician. Possible advantages are additional competencies of the physician. Similarities and differences in competencies of EMS providers and physicians have however never been studied. This study aims to compare competencies of ambulance nurses and helicopter EMS physicians in the Netherlands to gain better insight into the controversy of the prehospital physician. Methods In this descriptive study, a quantitative inventory was made of the diagnostic, therapeutic, and clinical judgment competencies of the ambulance nurse and physician, based on analysis of protocols, registration, equipment, and personal interviews. Results We identified 438 mutual competencies of the ambulance nurse and physician and 62 physician-specific competencies. The ambulance nurse masters 278 diagnostic, 131 therapeutic, and 29 clinical judgment competencies. The physician masters 285 diagnostic, 175 therapeutic, and 40 clinical judgment competencies. Seventy-one percent of the physician-specific competencies are therapeutic and related to advanced life support. Conclusion The ambulance nurse and physician have various mutual competencies. In addition, the physician can provide specific competencies on the scene. Knowing the exact overlap and differences in competencies is the first step to understand the prehospital physician controversy. Our results can be used as a tool for the next step in research on prehospital care by EMS providers and physicians and to improve prehospital care. European Journal of Emergency Medicine 18:322-327 (C) 2011 Wolters Kluwer Health | Lippincott Williams & Wilkin

Childhood osteomyelitis: imaging characteristics

The purpose of this review is to illustrate the imaging findings of childhood osteomyelitis. The diagnosis of childhood osteomyelitis can be challenging. Clinical presentation and laboratory results can differ and are relatively unreliable. To date, its role in the assessment of treatment efficacy is not yet clear. This review article provides an overview of the different imaging modalities and imaging characteristics of childhood osteomyelitis. Levels of evidence for different modalities are presented. Paediatric radiology plays a pivotal role in the diagnosis of childhood osteomyelitis and can also be used to guide therapy and intervention. Although imaging is essential in the diagnostic process, cooperation between the physician and radiologist remains the cornerstone in accurately diagnosing childhood osteomyelitis. MAIN MESSAGES: • Imaging plays a pivotal role in the diagnosis of childhood osteomyelitis. • Cooperation between the clinician and radiologist is a very important aspect of making the diagnosis. • The initial imaging modality in childhood osteomyelitis is conventional imaging. • Normal conventional imaging does not exclude osteomyeliti

Neonatal bacterial meningitis versus ventriculitis: a cohort-based overview of clinical characteristics, microbiology and imaging

Central nervous system (CNS) infections are potentially life threatening in neonates and can lead to the ill-defined diagnosis of ventriculitis. With this study we aimed to explore and describe ventriculitis regarding clinical, microbiological and ultrasonographic characteristics. We performed a retrospective cohort study including all neonates with a culture-proven CNS infection admitted to our tertiary NICU over a 12-year period (2004–2016). For each case clinical data was gathered, and three timed cranial ultrasounds were anonymized and retrospectively reviewed and assessed for signs of ventriculitis. Forty-five patients were included with 9 (20%) diagnosed with ventriculitis. Mortality in both ventriculitis and non-ventriculitis cases was one-third. Patients with pre-existing conditions as post-haemorrhagic hydrocephalus are at risk of developing ventriculitis. Most common pathogens were gram negative bacteria (68.9%). Ultrasonographic signs of ventriculitis developed over time, and interrater agreement was substantial. Conclusion: Neonatal ventriculitis is a serious entity in the continuum of meningitis. Early and correct diagnoses of ventriculitis are both important because of possible persisting or newly developing hydrocephalus or seizures. Sequential imaging should be performed.What is Known:• CNS infections in neonates lead to high mortality and morbidity.• Ventriculitis is a severe complication of meningitis.What is New:• High morbidity; the majority of ventriculitis patients have pre-existing PHVD and develop seizures and hydrocephalus.• Interrater agreement is good; bedside CUS is a useful tool for reaching a sustainable diagnosis of ventriculitis

Correction to: Neonatal bacterial meningitis versus ventriculitis: a cohort-based overview of clinical characteristics, microbiology and imaging (European Journal of Pediatrics, (2020), 179, 12, (1969-1977), 10.1007/s00431-020-03723-3)

This article originally published with all author names incorrectly listed. All author names have now been transposed and appear correctly above

Ingestie van corpora aliena bij kinderen

Foreign body ingestion occurs frequently in children and may lead to severe complications and mortality. In this article, three cases are presented. A 2-year-old boy swallowed a plastic toy helmet. He had no symptoms and physical examination was normal, and the toy was found in the stool within three days. Similarly, a 6-year-old girl swallowed two magnets and was asymptomatic. Physical examination was normal and a radiograph showed a foreign body which had passed the stomach. Due to the location, endoscopic removal by gastroduodenoscopy was not possible and surgical removal unnecessary. The magnets were secreted in the stool within two days. A 10-year-old boy with VACTERL association and psychiatric history, swallowed a button battery. After a delay in presentation, a radiograph showed a button battery mid-esophageal, which was endoscopically removed. He also needed dilatation due to esophageal stenosis. The above cases are all illustrative of the topic covered in the guideline 'Ingestion of foreign bodies in children aged 0-18 years', which was developed on behalf of the Dutch Pediatric Association and published in March 2019

Accuracy of ultrasonography for differentiating between simple and complex appendicitis in children

Purpose: Accurate differentiation between simple and complex appendicitis is important since differences in treatment exist. This study aimed to assess the accuracy of ultrasonography in differentiating between simple and complex appendicitis. Methods: Data from children aged < 18 years who underwent appendectomy between the 1st of January 2013 and the 1st of January 2018 were analyzed retrospectively. Ultrasonography reports of eligible children were divided into simple (test negative) and complex appendicitis (test positive) based on predefined criteria and compared to a gold standard (a combination of predefined perioperative and histopathological criteria). Sensitivity, specificity, negative predictive value (NPV) and positive predictive value (PPV) were calculated to measure ultrasonographic accuracy in differentiating between simple and complex appendicitis. Results: 176 children were eligible for inclusion. The mean age at the time of operation was 10.1 ± SD 4.6 years. 84 (47.7%) children had simple appendicitis and 92 (52.3%) had complex appendicitis. The use of ultrasonography yielded a sensitivity: 46%, specificity: 90%, PPV: 84%, and NPV: 60%. Conclusion: Ultrasonography as standalone modality is not suitable for differentiating between simple and complex appendicitis in children. To improve preoperative differentiation, other variables such as clinical signs and laboratory data are necessary in conjunction with ultrasonography findings