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Kawasaki disease (KD), a condition primarily affecting infants and young children, is commonly encountered by physicians nowadays. However, large retropharyngeal swelling in the presence of KD is rarely reported in literature. In this report, we present a 9-month-old female with KD mimicking retropharyngeal abscess, with review of seven previously published case reports. [ABSTRACT FROM AUTHOR]

Objective: Late-onset Pompe disease (LOPD) is a lysosomal storage disease resulted from deficiency of the enzyme acid α-glucosidase. Patients usually develop a limb-girdle pattern of myopathy and respiratory impairment, and enzyme replacement therapy (ERT) is the only specific treatment available. Recently, LOPD has been associated with low bone mineral density (BMD), but the effect of ERT on BMD is inconclusive. In this report we described our early observations on the change of BMD after ERT in Chinese LOPD patients. Results: We studied four Chinese LOPD patients with different severities of myopathy. All were underweight, and three had osteoporosis at baseline. We found significant weight gain in three patients after ERT and all four patients showed improvement in BMD. The biggest improvement, 84.4% increase in BMD, was seen in a lady with the most prominent weight recovery. Our results suggest that ERT improves BMD in Chinese LOPD and weight gain could be a major contributor to this effect. [ABSTRACT FROM AUTHOR]