Joint hypermobility and oligoarticular juvenile idiopathic arthritis: What relationship?

AIM: Oligoarticular onset juvenile idiopathic arthritis (oJIA) is characterised by a prevalent lower limb involvement, antinuclear antibodies (ANA) positivity and high risk of anterior uveitis. As we observed that oJIA patients frequently present with joint hypermobility (JH), we investigated whether there was a relationship between oJIA and JH. METHODS: Our series consisted of children with oJIA, as defined by the International League of Associations for Rheumatology criteria, for whom complete clinical data of at least 2 years' duration were available. Clinical and laboratory data, collected at disease onset and at the last follow-up, included: sex, age, presence of JH according to the Beighton score, disease activity, presence of uveitis, ANA, treatment and outcome. RESULTS: A total of 274 oligoarticular JIA patients (224 female, 50 male; mean age: 11.5) followed on average for 6.6 years, entered the study. The mean age at disease onset was 4.9 years, ANA were positive in 83.9% and uveitis occurred in 20.8%. JH was present in 70.8% of cases at onset, in 44.5% at the last evaluation. JH was more frequent in females (73.7%) than in males (58.0%) (P = 0.028). Uveitis was less frequent in hypermobile children both at diagnosis (17.5 vs. 28.7%, P = 0.037) and during overall disease course (23.7 vs. 36.3%, P = 0.034). Of 163 subjects with at least 5-year follow-up, the full clinical remission rate was significantly higher in JH patients (50.5%) than in those without JH (42.3%; P = 0.042). CONCLUSION: In patients with oligoarticular JIA, JH is more frequent than in healthy subjects, uveitis less frequent and the long-term outcome better.

Joint hypermobility, growing pain and obesity are mutually exclusive as causes of musculoskeletal pain in schoolchildren.

OBJECTIVES: Chronic musculoskeletal pain (MSP) is common in children and can be due to several non-inflammatory conditions such as the benign joint hypermobility syndrome (BJHS), and growing pains (GP). We evaluated frequency, risk factors and causes of MSP in a large cohort of healthy schoolchildren. METHODS: We conducted a cross sectional study in a cohort of healthy schoolchildren, aged 8-13 years, by collecting information and performing a physical examination. The anamnesis was focused on family history for MSP, presence and sites of MSP interfering with the regular daily activities during the previous 6 months and presence of GP. Physical examination included body mass index, pubertal stage and musculoskeletal examination focused on the presence of hypermobility according to the Beighton criteria. RESULTS: Two hundred and eighty-nine schoolchildren, 143 females and 146 males, participated in the study. Chronic MSP occurred in 30.4% of subjects, BJHS occurred in 13.2%. GJH was more frequent in symptomatic subjects than in asymptomatic ones (p=0.054). Symptomatic subjects were more frequently pre-pubertal than pubertal (p=0.006). In general, GP, BJHS and obesity (OB) were mutually exclusive as causes of MSP as, among 88 symptomatic subjects, 52.3% had GP, 40.9% presented BJHS, 4.5% were OB and only two (2.3%) presented both BJHS and OB. After puberty, GP persisted in 66.7%, BJHS in 26.7% and in association with OB in 6.7%. CONCLUSIONS: Approximately one third of schoolchildren suffer from MSP. BJHS, GP and OB are mutually exclusive as causes of MSP in schoolchildren. Pubertal stage plays an important role in the physiopathology of this condition.

Case report: Exploring under the tip of the iceberg: A case series of "self-limiting" multisystem inflammatory syndrome in children.

Multisystem inflammatory syndrome in children (MIS-C) is a serious condition triggered by SARS-COV-2 infection, characterized by persistent fever, multiorgan dysfunction, and increased inflammatory markers. It requires hospitalization and prompt treatment, with nearly 60% of the cases needing intensive care and 2% fatality rate. A wide spectrum of clinical characteristics and therapeutic approaches has been reported in MIS-C. We describe a series of four patients with MIS-C, defined according to the current case definitions, with a self-limiting course and no need for immunomodulatory treatment ("self-limiting MIS-C"). Few data about self-limiting MIS-C are available to date and no information on medium- and long-term outcome of this subset of patients has been reported. Although limited in size, our experience provides new insights into the MIS-C syndrome, highlighting an underestimated aspect of the disease that may have significant therapeutic implications.

Recent advances in the management of juvenile systemic sclerosis.

INTRODUCTION: Juvenile Systemic Sclerosis (JSSc) is one of the most severe multi-systemic connective tissue conditions encountered in pediatric rheumatology. Due to its high morbidity and mortality rate, early diagnosis, proper assessment and effective treatment are crucial. Areas covered: In this review, we will focus on the recent advances on the classification and general management of JSSc based on the literature search and on the Authors' experience. Expert commentary: Classification criteria for the pediatric forms of systemic sclerosis, the new proposed assessment tools, such as the juvenile systemic sclerosis severity score, named J4S, and new techniques for the internal organs assessment, will facilitate both daily practice and research projects. Unfortunately, no known drugs seem to be effective in preventing the development of disease complications although a few treatments, undertaken according to experience in adults, have shown some effects in arresting the disease progression.

Delayed myelination is not a constant feature of Allan-Herndon-Dudley syndrome: report of a new case and review of the literature.

INTRODUCTION: Allan-Herndon-Dudley syndrome is an X-linked condition caused by mutations of the monocarboxylate transporter 8 gene. This syndrome is characterized by axial hypotonia, severe mental retardation, dysarthria, athetoid movements, spastic paraplegia, and a typical thyroid hormone profile. In most of the cases reported so far, brain magnetic resonance imaging showed delayed myelination of the central white matter and this finding greatly affects the diagnosis of the syndrome. CASE REPORT: We present a new case studied with magnetic resonance imaging and spectroscopy and we reviewed all the articles published between 2004 and 2012 containing information on brain neuroimaging in this syndrome. An Italian boy, showing a classical phenotype of the syndrome, was diagnosed at 17months of age. Genetic analysis revealed a new frameshift mutation of the monocarboxylate transporter 8 gene. His brain magnetic resonance imaging and spectroscopy, performed at the age of 14months, were normal. DISCUSSION: Among the 33 cases reported in the literature, 3 cases had normal neuroimaging and in 7 of 14 cases, having a longitudinal follow-up, the initial finding of delayed myelination gradually improved. Our case and the review of the pertinent literature suggest that Allan-Herndon-Dudley syndrome should be suspected in males with the typical neurological and thyroid profile, even in cases with normal brain myelination.

Abatacept for severe anti-tumor necrosis factor alpha refractory juvenile idiopathic arthritis-related uveitis.

OBJECTIVE: To evaluate the safety and efficacy of abatacept in patients with severe juvenile idiopathic arthritis (JIA)-related uveitis refractory or intolerant to immunosuppressive and anti-tumor necrosis factor alpha (anti-TNFalpha) agents. METHODS: Patients with JIA-related uveitis refractory to immunosuppressive and anti-TNFalpha agents were treated with intravenous abatacept (10 mg/kg monthly). Side effects, frequency of uveitis flares, and ocular complications before and after treatment were reported. RESULTS: Seven patients (6 females and 1 male) with a mean uveitis duration of 11.6 years entered the study. All patients had failed previous immunosuppressive therapy and >or=2 anti-TNFalpha treatments. All patients responded to abatacept and 6 maintained a clinical remission after a mean of 9.2 months of treatment. One patient withdrew from the study with oral mycosis and arthritis flare; no other patients had side effects. The mean frequency of uveitis flares during the 6 months before and after treatment decreased from 3.7 to 0.7 episodes. No new ocular complications or worsening of preexisting ones were reported. CONCLUSION: Abatacept treatment led to sustained improvement in severe anti-TNFalpha-resistant JIA-related uveitis and was well tolerated in all but 1 patient. These results provide new insights into a possible indication of abatacept for the treatment of uveitis.