Many children visit the rheumatology clinic with joint swelling, pain, stiffness, restriction of movement and are eventually diagnosed with arthritis. However, a small proportion may have an alternative diagnosis. Juvenile idiopathic arthritis (JIA), the most common form of chronic arthritis in children is usually a clinical diagnosis, with no available diagnostic markers. 1 Rarely a few non-inflammatory conditions presenting with joint deformities may mimic the presentation of JIA, resulting in incorrect diagnosis and unnecessary treatment with disease-modifying drugs and immunosuppressive therapy. Since the management and long-term outcome of these conditions is starkly different, it is imperative that these differentials be considered, particularly in atypical cases that lack classical signs of inflammation.We report the case of a 9-year-old boy who presented with progressive deformities and restricted movement of bilateral knee and wrist joints and dysmorphic features. He was later diagnosed with an inborn error of metabolism (mucolipidosis III) based on genetic testing. | C A S E REP ORTA 9-year-old male child presented with complaints of progressive painless joint swelling and deformities of the large joints for the past 6 years. These began with swelling of the bilateral knee joints progressing to genu valgum and progressive involvement of bilateral ankle joints and hands over the last 2.5 years. There was no associated joint pain, tenderness, overlying redness, morning stiffness, migratory involvement, fever or any systemic features of illness.Progressive restriction of physical activity and limited mobility including difficulty in squatting, progressive lordosis and incomplete fisting were noted. He was initially managed conservatively with
Background: Development of pre-eclampsia (PE) at less than 34 weeks of gestation is known as early onset PE (EOPE) and is commonly associated with more severe adverse maternal and fetal outcomes. The purpose of this study was to study Doppler parameters of uterine, umbilical and fetal middle cerebral arteries exclusively in women with EOPE and its correlation with perinatal outcomes. This study was a hospital-based observational prospective study.Methods: 60 patient of early onset PE with singleton live pregnancy were included in the study and followed up. The results of sonographic and Doppler examination were analysed and correlated with perinatal outcomes.Results: Adverse perinatal outcomes were seen in 66.66% cases of early onset PE. To predict adverse perinatal outcomes, umbilical artery (Umb A) RI, PI were found to be most sensitive, cerebroplacental ratio (CPR) was most specific indicator with highest positive predictive value (PPV). Absent end diastolic flow /reverse end diastolic flow (AEDF/REDF) were ominous signs.Conclusions: Early onset PE is recently considered a more severe disease with different etiopathogenesis. Doppler study is the primary imaging modality for fetomaternal surveillance for follow up and prediction of perinatal outcome, thus allowing planning of timely management in early onset PE patients, as these patients are at higher risk of adverse perinatal outcomes.
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