Paediatric Thoracic Imaging in Cystic Fibrosis in the Era of Cystic Fibrosis Transmembrane Conductance Regulator Modulation.

Cystic fibrosis (CF) is one of the most common progressive life-shortening genetic conditions worldwide. Ground-breaking translational research has generated therapies that target the primary cystic fibrosis transmembrane conductance regulator (CFTR) defect, known as CFTR modulators. A crucial aspect of paediatric CF disease is the development and progression of irreversible respiratory disease in the absence of clinical symptoms. Accurate thoracic diagnostics have an important role to play in this regard. Chest radiographs are non-specific and insensitive in the context of subtle changes in early CF disease, with computed tomography (CT) providing increased sensitivity. Recent advancements in imaging hardware and software have allowed thoracic CTs to be acquired in paediatric patients at radiation doses approaching that of a chest radiograph. CFTR modulators slow the progression of CF, reduce the frequency of exacerbations and extend life expectancy. In conjunction with advances in CT imaging techniques, low-dose thorax CT will establish a central position in the routine care of children with CF. International guidelines regarding the choice of modality and timing of thoracic imaging in children with CF are lagging behind these rapid technological advances. The continued progress of personalised medicine in the form of CFTR modulators will promote the emergence of personalised radiological diagnostics.

Paediatric Inflammatory Multisystem Syndrome: A Diagnostic Challenge in a COVID-19-Negative Patient.

Paediatric inflammatory multisystem syndrome (PIMS) is associated with SARS-CoV-2 infection in patients aged 19 years or below according to World Health Organization (WHO) criteria. The condition is characterised by fever, inflammation and organ dysfunction. PIMS mimics Kawasaki disease or toxic shock syndrome. As SARS-CoV-2 infection is a global pandemic, clinicians need to be aware of the conditions associated with it. We present the case of 18-year-old woman who was admitted with multi-organ failure requiring admission to the intensive care unit. The differential diagnosis included toxic shock syndrome, Kawasaki disease and PIMS. The overall picture fit the criteria for PIMS but the patient had a negative polymerase chain reaction (PCR) test for SARS-CoV-2, which presented additional diagnostic difficulties. As the PCR test was negative, IgG antibodies against SARS-CoV-2 were measured to detect past infection and tested positive. The patient was diagnosed with PIMS as she met the WHO criteria after other differential diagnoses were excluded. She was successfully treated with methylprednisolone and intravenous immunoglobulin (IVIG). LEARNING POINTS: Paediatric inflammatory multisystem syndrome (PIMS) can also occur in young adults as clinical improvement was observed in a young woman after the administration of methylprednisolone and intravenous immunoglobulin (IVIG).Multidisciplinary care is important for the diagnosis and management of PIMS.The presentation of PIMS has a lot of similarities with Kawasaki disease and toxic shock syndrome.

An atypical cause of myocardial infarction: case report of an obstructing papillary fibroelastoma of the aortic valve.

BACKGROUND: Papillary fibroelastomas are rare primary cardiac tumours with a prevalence of 0.01% at autopsy. They are histologically benign tumours but have been demonstrated through case series to confer an increased risk of thrombo-embolism resulting in: transient ischaemic attack, stroke, myocardial infarction, and pulmonary and systemic embolization. CASE SUMMARY: A 54-year-old woman presented with central chest pain radiating to her left arm. At presentation there was a significant troponin rise; initial high-sensitivity troponin-I (hsTn-I) 660 pg/mL increased to 3340 pg/mL at 6 h. Coronary angiogram did not reveal any obstructing coronary artery disease. Echocardiography revealed a rounded, mobile mass on the left coronary cusp of the aortic valve suspicious for papillary fibroelastoma. The patient underwent shave excision of the lesion. Intra-operatively it was noted that the mass intermittently sat within the ostium of the left main resulting in its occlusion. Histology confirmed a papillary fibroelastoma. DISCUSSION: Primary cardiac tumours are rare but can cause life-threatening complications such as stroke, myocardial infarction, and cardiac arrest. In the literature, the mechanism of these complications is mainly attributed to thrombo-embolism. This case demonstrates the utility of echocardiogram in investigating and diagnosing a rare cause of myocardial infarction and highlights an unusual mechanism, that is tumour causing obstruction of the coronary ostium.