Abstract
Mixed connective tissue disease in children – case series
Highlights
Paediatric mixed connective tissue disease (MCTD) is a rare and heterogeneous group of rheumatic disorders in children and young people, characterised by overlapping features of juvenile idiopathic arthritis (JIA), juvenile systemic lupus erythematosus (JSLE), systemic sclerosis (SSc), and juvenile dermatomyositis/polymyositis (JDM/PM) in the presence of high titres of anti-U1 ribonucleoprotein antibodies (RNP) [1,2]
Big variation in the response to treatment – excellent response of some of the common symptoms as against poor response of some of the others like sclerodactyly, oesophageal dysmotility, pulmonary artery hypertension and interstitial lung disease. Many of these can be amply illustrated by the patients we are discussing in this article, who all were diagnosed with MCTD at our tertiary Paediatric Rheumatology centre in the last five years: Case 1
MRI scan showed moderate tenosynovitis affecting the flexor and extensor tendon sheaths with moderate fluid around all MCP and proximal interphalangeal (PIP) joints (Figure 1). Her blood tests were unremarkable again. She was diagnosed as Rheumatoid Factor (RF) negative polyarticular Juvenile Idiopathic Arthritis (JIA)
Summary
Paediatric mixed connective tissue disease (MCTD) is a rare and heterogeneous group of rheumatic disorders in children and young people, characterised by overlapping features of juvenile idiopathic arthritis (JIA), juvenile systemic lupus erythematosus (JSLE), systemic sclerosis (SSc), and juvenile dermatomyositis/polymyositis (JDM/PM) in the presence of high titres of anti-U1 ribonucleoprotein antibodies (RNP) [1,2]. Following a pulse of methyl prednisolone, she was started on weaning course of oral Prednisolone and weekly MTX injections (20mg) with good clinical and laboratory response She defaulted her review appointments, stopped the medications and presented with a flare few months later - struggling with activities of daily living, with swollen hands (no synovitis on USS), muscle weakness and erythematous skin rash on exposure to sun. With a diagnosis of polyarticular JIA with evolving CTD, he was started on weekly Methotrexate injections, after a pulse of IV methyl prednisolone followed by tapering course of oral Prednisolone After initial response, his joints flared after 6 months, when he developed livedo reticularis, following which he received intra articular steroid injections, the dose of MTX was increased and HCQ added. We work closely with colleagues in other paediatric subspecialties – nephrology, neurology, pulmonology, cardiology, radiology and dermatology – through meetings and/or combined clinics, to plan further investigations, as guided by the initial presentation and the baseline investigations, try and reach a consensus on therapeutic plan and follow up
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