published as a part of Pediatric Rheumatology Society Congress 2014.

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Objective Acute lymphoblastic leukemia (ALL) may present with arthritis implying the risk of being misdiagnosed as juvenile idiopathic arthritis (JIA). The aim of this study was to identify predictors for ALL based on clinical and laboratory information. Methods This cross-sectional, retrospective study compared clinical presentation and laboratory results of 26 children with ALL and arthritis versus 485 children with JIA (433 non-systemic, 52 systemic JIA). Using a Bayesian score approach the findings were evaluated by calculating odds ratios (OR) and lnOR as a measure of diagnostic weight. Results Distinction on clinical grounds was difficult, as even a high number of joints involved did not exclude ALL. One or more hematologic cell counts were low (Hb <10 g/dL, platelet count <100 x 10 9 /L, neutrophil count < 1.0 x 10 9 /L) in 92% with ALL, 25% with systemic JIA and 10% with non-systemic JIA. Neutropenia and thrombocytopenia had the highest ORs of 128 (95% CI 43-387) and 129 (95% CI 26-638), each giving a diagnostic weight of 4. The estimated risks of ALL were 0.2% with normal cell counts and 9%, 67% and 100% when one, two or three cell lines were affected. Conclusion A simple count of cell lines with low counts can serve as a basic diagnostic strategy. Children with tri-or bilinear involvement should be referred to a bone marrow, and those with unilinear involvement a thorough screen for further evidence of ALL (organomegaly, ESR, LDH, uric acid, and blood smear).

Bronchoalveolar lavage fluid (BALF) in patients with idiopathic pulmonary fibrosis (IPF) is typically characterized by a neutrophil inflammatory pattern and to a lesser extent (<25%) a mild eosinophil alveolitis. We here present two patients with a definite usual interstitial pneumonia (UIP) pattern on high-resolution computed tomography of the thorax (HRCT) which demonstrated unusually high eosinophil counts in the BALF (40% and 51%). Based on HRCT, lack of response to steroids and the disease course they were both diagnosed as IPF after a multidisciplinary team discussion. This report discusses the diagnostic and etiological considerations of a coexisting UIP pattern and an eosinophil alveolitis. We conclude that these cases illustrate that high level BALF eosinophilia (40–50%) may occur among patients with IPF.

Acute lymphoblastic leukemia (ALL) is the most common childhood neoplasia and may present with arthralgia and arthritis, with the risk of misdiagnosis and diagnostic delay. We describe in detail arthropathy (arthritis/arthralgia) among children with leukemia as the children's laboratory results, misdiagnosis, and treatment before the diagnosis of ALL and the diagnostic delay. In this retrospective cohort study, we reviewed records of 286 children aged 1-15 years diagnosed with ALL from January 1992 to March 2013. We identified 26 children with arthralgia and 27 children with arthritis. The majority of the children had one or two joints involved (arthralgia 72%, arthritis 42%), and most often hips and knees. Morning stiffness was not reported. Imaging of affected joints was included in the initial workup of 77% of children with ALL and arthropathy, and 66% was abnormal. Misdiagnosis as JIA occurred in 26% and 71% of these children received treatment with intraarticular corticosteroids. The diagnostic delay was 3 weeks longer for the children with arthritis than those with arthralgia (median 54 vs 36 days), primarily as a consequence of a longer first doctor's delay. Compared to the children with arthralgia, the children with arthritis were more often misdiagnosed and treated with intraarticular steroid before the diagnosis of ALL. They also had longer diagnostic delay, primarily as a consequence of a longer first doctor's delay.

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The cytochrome C oxidase assembly protein<i> SCO1</i> gene encodes a mitochondrial protein essential for the mammalian energy metabolism. Only three pedigrees of <i>SCO1</i>mutations have thus far been reported. They all presented with lactate acidosis and encephalopathy. Two had hepatopathy and hypotonia, and the other presented with intrauterine growth retardation and hypertrophic cardiomyopathy leading to cardiac failure. Mitochondrial disease may manifest in neonates, but early diagnosis has so far been difficult. Here, we present a novel mutation in the <i>SCO1</i> gene: in-frame deletion (Gly106del)<i></i>with a different phenotype without encephalopathy, hepatopathy, hypotonia, or cardiac involvement. Within the first 2 h the girl developed hypoglycemia and severe chronic lactate acidosis. Because of the improved technique in whole exome sequencing, an early diagnosis was made when the girl was only 9 days old, which enabled the prediction of prognosis as well as level of treatment. She died at 1 month of age.

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