A 6-year-old boy with improving juvenile dermatomyositis (JDM) developed severe and debilitating calcinosis, unresponsive to diltiazem and probenecid. Alendronate produced dramatic improvement within ...1 month and by 12 months calcinosis had virtually resolved. The response was followed by bone mineral content measurements.
This study assessed the magnitude of changes in isokinetic muscle strength in children with juvenile idiopathic arthritis (JIA) before and after treatment with intra-articular corticosteroid ...injection and assessed the feasibility of a larger study of the same effect. Isokinetic dynamometry was used to measure peak knee extension and flexion torque in 12 children before and after treatment for unilateral knee arthritis. Extensor and flexor strength was reduced on the affected side before treatment (-0.56 Nm/kg, p = .004 and -0.24 Nm/kg, p = .02 respectively). Increases in extensor strength were observed at two weeks (p = .01) and twelve weeks postinjection (p = .03). Improvements at 6 weeks approached but did not reach statistical significance (p = .17). Improvements in flexor strength were not observed until 12 weeks postinjection (p = .03). Despite significant improvements in extensor strength, low peak knee extensor torque continued to be observed at 12 weeks (p = .01). Knee extensor and flexor strength is reduced in children with JIA with active arthritis and improves following intra-articular corticosteroid injection. Significant improvements in knee extensor and flexor strength were seen postinjection; however deficits in extensor strength were still evident at three months. Isokinetic dynamometry was safe and well tolerated in our sample of children with JIA with active arthritis.
Objective
Juvenile localized scleroderma is usually considered a disease that is confined to the skin and subcutaneous tissue. We studied the prevalence and clinical features of extracutaneous ...manifestations in a large cohort of children with juvenile localized scleroderma.
Methods
Data from a multinational study on juvenile scleroderma was used for this in‐depth study. Clinical features of patients with extracutaneous manifestations were compared with those of patients who had exclusively skin involvement.
Results
Seven hundred fifty patients entered the study. One hundred sixty‐eight patients (22.4%) presented with a total of 193 extracutaneous manifestations, as follows: articular (47.2%), neurologic (17.1%), vascular (9.3%), ocular (8.3%), gastrointestinal (6.2%), respiratory (2.6%), cardiac (1%), and renal (1%). Other autoimmune conditions were present in 7.3% of patients. Neurologic involvement consisted of epilepsy, central nervous system vasculitis, peripheral neuropathy, vascular malformations, headache, and neuroimaging abnormalities. Ocular manifestations were episcleritis, uveitis, xerophthalmia, glaucoma, and papilledema. In more than one‐fourth of these children, articular, neurologic, and ocular involvements were unrelated to the site of skin lesions. Raynaud's phenomenon was reported in 16 patients. Respiratory involvement consisted essentially of restrictive lung disease. Gastrointestinal involvement was reported in 12 patients and consisted exclusively of gastroesophageal reflux. Thirty patients (4%) had multiple extracutaneous features, but systemic sclerosis (SSc) developed in only 1 patient. In patients with extracutaneous involvement, the prevalence of antinuclear antibodies and rheumatoid factor was significantly higher than that among patients with only skin involvement. However, Scl‐70 and anticentromere, markers of SSc, were not significantly increased.
Conclusion
Extracutaneous manifestations of juvenile localized scleroderma developed in almost one‐fourth of the children in this study. These extracutaneous manifestations often were unrelated to the site of the skin lesions and sometimes were associated with multiple organ involvement. The risk of developing SSc was very low. This subgroup of patients with juvenile localized scleroderma should be evaluated extensively, treated more aggressively, and monitored carefully.
Objective:
To determine the spectrum of musculoskeletal complications of cystic fibrosis (CF) in a paediatric population in Australia.
Method:
Clinical assessment followed by serology and bone scan ...on patients attending a specialized CF clinic.
Results:
Of 125 patients studied, 21 had musculoskeletal complications, 17 attributable to CF. Eleven had joint involvement (six hypertrophic pulmonary osteoarthropathy (HPOA)), one CF arthropathy, two ciprofloxacin induced arthralgia, one joint contracture following long‐line placement, one chest infection associated arthralgia), four kyphosis (two also with HPOA) and two thoracic deformity. HPOA was associated with older age, lower average pulmonary function and lower average Shwachman score. Three patients with HPOA died within 12 months of reporting symptoms. Kyphosis was also associated with older age and lower pulmonary function.
Conclusion:
Increasing age with deteriorating clinical and pulmonary function were associated with a higher incidence of musculoskeletal involvement. The development of symptomatic HPOA is a marker of poor prognosis.
A questionnaire survey of 363 children and young adults with juvenile arthritis was conducted to assess the relations among disease severity, psychosocial functioning, and adjustment in three age ...groups--primary school, high school, and young adult. Parents were surveyed separately to determine which characteristics of the ill child at different ages most significantly impact the well-being of the family. Indices of psychologic functioning and disease severity were associated with adjustment in the primary school and high school groups, whereas measures of social relationships were strongly associated with adjustment only in the high school group. Relations among measures of psychologic functioning, social relationships, disease severity, and adjustment in young adults were minimal. Level of disease severity was associated with the presence of financial concerns, emotional problems, and physical strain in parents of high school children and young adults. The results emphasize the importance of using a developmental model for understanding the adjustment of individuals with chronic juvenile arthritis and their families.
We report a novel mutation in WT1 exon 9 (1214 A>G) resulting in an amino acid change from H to R at codon 405 in a 46 XY female patient who had congenital hypertrophic pyloric stenosis, ...pseudohermaphroditism masculinus, renal failure, and Wilms tumor, and died at the age of 22 months. The patient demonstrated the difficulty in diagnosing a patient with intersex before conclusive genetic characterization.
PDF
