Pediatrics
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Molybdenum cofactor deficiency (MoCD) is a rare metabolic disorder characterized by severe and rapidly progressive neurologic damage caused by the functional loss of sulfite oxidase, 1 of 4 molybdenum-dependent enzymes. To date, no effective therapy is available for MoCD, and death in early infancy has been the usual outcome. We report here the case of a patient who was diagnosed with MoCD at the age of 6 days. ⋯ We demonstrate efficient uptake of cPMP and restoration of molybdenum cofactor-dependent enzyme activities. Further neurodegeneration by toxic metabolites was stopped in the reported patient. We also demonstrated the feasibility to detect MoCD in newborn-screening cards to enable early diagnosis.
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Unexplained hypoglycemia in a pediatric diabetic patient can perplex even the savviest health care providers and lead to an extensive medical workup. We present here the cases of 2 children with type 1 diabetes mellitus treated with insulin pumps who were hospitalized for episodes of hypoglycemia. ⋯ Ultimately, both children confessed to surreptitiously using this priming function to self-administer extra insulin. It is important that health care professionals who are caring for diabetic patients be aware of this possibility.
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The objective of this study was to calculate injury rates and describe the epidemiology of holiday-related injuries among children who were aged < or =19 years and presented to US emergency departments (EDs) from 1997 through 2006. ⋯ Most injuries that were sustained on holidays and required ED treatment were not holiday-specific but were associated with more general activities. Parents should be aware that holidays present a risk not only for holiday-specific injuries but also for more general, "everyday" injuries.