Phalangeal microgeodic syndrome: a paediatric case series.

We present the clinical and radiological characteristics of phalangeal microgeodic syndrome in a cluster of five children during the second peak of COVID-19 pandemic in the UK. Each child presented with phalangeal swelling and erythema, prompting a comprehensive multi-disciplinary team review to analyse the clinical presentation, blood test results and imaging. The cohort's average age was 14.1 years, ranging from 10.4 to 16.6 years, with two girls and three boys. Four children experienced phalangeal involvement in the hands, whilst one was affected solely in the feet. A rheumatological work-up was performed for all. Hand X-rays performed on three children revealed distinct radiographic features like microgeodes, subperiosteal bone resorption and rarefaction in two cases. However, further MRI showed extensive changes closely correlated with the clinical signs of cutaneous vasculopathic rashes. The MRI abnormalities were notable, encompassing marrow oedema primarily affecting metaphyses and epiphyses, displaying broad transition zones. Soft tissue swelling and cortical erosions were also observed. These MRI features proved more pathognomonic in the acute clinical context. The study concluded that phalangeal microgeodic syndrome, characterised by digital swelling and erythema, might not be adequately assessed by plain X-rays. The more comprehensive MRI features, including marrow oedema and soft tissue abnormalities, appeared to be more indicative in diagnosing the condition. Considering the rarity of this syndrome and its temporal association with the COVID-19 pandemic, the study hypothesised that COVID-related thrombophilia and immune-mediated vasculopathy might act as crucial triggers for the active bony manifestations seen in this syndrome. KEY POINTS: • PMS is a rare, predominantly paediatric condition, of unknown aetiology which affects the digits. • Laboratory investigations are generally negative; however, in the appropriate clinical context, the X-ray findings of microgeodes and pattern of bone marrow oedema seen on MRI are pathognomonic. • Considering the rarity of PMS and temporal association with the COVID-19 pandemic, COVID vasculopathy may represent a previously unrecognised aetiology for PMS.

Use of MRP8/14 in clinical practice as a predictor of outcome after methotrexate withdrawal in patients with juvenile idiopathic arthritis.

The objective of this study was to determine the effectiveness of MRP8/14 as a predictor of disease flare in patients with juvenile idiopathic arthritis (JIA) following the withdrawal of methotrexate (MTX) in a routine clinical setting. All MRP8/14 tests performed at a single centre in a 27-month period were considered for analysis. Patients were assessed against criteria for inactive disease and subsequent disease flare. Decisions on whether or not to stop treatment were recorded. MRP8/14 results were assessed in conjunction with clinical information. Clinicians were also surveyed to investigate if MRP8/14 influenced their decision to discontinue MTX where this was available at that time point. One hundred four cases met the inclusion criteria during the study period. Although there was no significant difference in flares between patients with an elevated or low MRP8/14 value, in those who stopped MTX (n = 22), no patients with a low MRP8/14 (≤ 4000 ng/ml) result flared (follow-up time 12 months). Clinicians reported that for patients with clinically inactive disease and an elevated MRP8/14 result (> 4000 ng/ml), none would advise withdrawal of MTX. Low MRP8/14 was interpreted favourably when considering stopping MTX treatment in patients with JIA. Implementation of MRP8/14 testing has changed clinical practice at this centre. However, the observation that some patients in our cohort who had an elevated MRP8/14 value did not flare after stopping MTX for non-disease-related reasons highlights the need for further biomarkers to predict the risk of flare off medication in JIA and aid clinicians in treatment decisions. Key Points • First study of serum MRP8/14 measurement in clinical practice to inform treatment decisions in patients with JIA. • No patients with a low MRP8/14 test result went on to suffer a disease flare in 12 months of follow follow-up. • Further biomarkers are needed to predict the risk of flare off medication in JIA and treatment decisions.

Young Minds: Mental Health and Transitional Care in Adolescent and Young Adult Rheumatology.

Consideration of the mental health and emotional wellbeing is an important component of health care for all young people, irrespective of setting. Mental health disorders are common during adolescence and young adulthood and young people with rheumatic musculoskeletal diseases (RMD) are not exempt. For such young people, risks of poor outcomes are related to both mental health as well as their RMD. Times of change during adolescence and young adulthood-transitions-are potentially vulnerable life stages for young people with RMD and warrant specific attention in health care provision. Such transitions include those occurring at puberty, during education, training, and employment, socially with moves away from the parental home, as well as from child to adult-centered health services. There is great potential for rheumatology professionals to support young people with RMD at these transitions in view of their frequent encounters and ongoing therapeutic relationships. In this review, we aim to assess the impact of mental health on RMD during adolescence and young adulthood with particular reference to transitional care provision and how rheumatology professionals can be involved in addressing mental health issues during this time of change.

Atypical case of COVID-19 in a critically unwell 5-week old infant.

The effect of COVID-19 by SARS-CoV-2 on the paediatric population remains an evolving mystery. Early reports from China stated that children seem to be unharmed by its dangerous effects, yet more recently there has been evidence of a systemic inflammatory response in a small number of children who are affected. We discuss a 5-week-old male infant who presented atypically with severe COVID-19 infection. To our knowledge, he is the youngest reported case in the UK to require mechanical ventilation and intensive care treatment as a direct result of COVID-19 following horizontal transmission. This case has generated several learning points with regard to atypical presentations of COVID-19 and identifying a potential cohort of 'at risk' infants. We also highlight a number of new challenges that have arisen for paediatricians and anaesthetists providing airway management for infants with SARS-CoV-2.

Update on the epidemiology, risk factors and disease outcomes of Juvenile idiopathic arthritis.

Juvenile idiopathic arthritis (JIA) is the most common inflammatory joint condition of childhood and represents seven JIA subtypes characterised by distinct clinical and laboratory variables. Genetic and environmental factors are known to influence JIA, although many unanswered questions remain. Measurement of health outcomes in JIA is imperative for both clinical practice and research. Patient-reported outcomes present particular challenges in paediatric rheumatology in view of the importance of collecting reports from both the child/young person and the parent. Another challenge is the need for continuity of outcome measurement across the paediatric-adult interface during the process of transition in terms of both measurement tools and the mechanisms in the system to facilitate tracking of the young person into adult care. Finally, the need for adults with JIA to be seen as a distinct group in adult rheumatology practice is important for both service provision and outcome research.

Neonatal acute lymphocytic leukaemia: an unusual presentation of a rare disease.

Infantile acute lymphocytic leukaemia (ALL) seldom presents within the first month of life. Most are diagnosed before birth. Postnatal diagnoses are easily recognisable when characteristic features are present, namely hepatosplenomegaly, leukaemia cutis or infiltrative disease of the extramedullar and central nervous system. However, some children present with vague and non-specific symptoms masquerading as other diseases. We report an unusual presentation of infantile ALL in a 19-day-old infant, who struggled with feeding after a diagnosis of gastro-oesophageal reflux disease since birth. To the best of our knowledge, this is the youngest case report of neonatal ALL, presenting with vomiting, lethargy and dehydration. The neonate presented to our paediatric assessment unit acutely due to progression of her symptoms. General physical examination was unremarkable apart from signs of lethargy and dehydration. Blood investigation revealed an incidental finding of high white cells, including 90% blast cells. Early diagnosis in this case meant early treatment and a good prognosis.