CLINICIAN'S CAPSULEWhat is known about the topic?Children's pain in the emergency department (ED) continues to be under-recognized and sub-optimally managed.What did this study ask?We sought to evaluate the frequency of caregiver/child acceptance of analgesia offered in the ED.What did this study find?Of the 743 children who presented to the ED with a painful condition, 408 (54.9%) were offered analgesia. If offered in the ED, analgesia was accepted by 91% (373/408) of the caregivers/children.Why does this study matter to clinicians?This study suggests that caregiver/child refusal of analgesia is a not a major barrier to optimal pain management and highlights the importance of ED personnel in encouraging adequate analgesia.
Physicians caring for patients with rare diseases face unique challenges in managing symptoms, ordering diagnostic tests, and providing patients and families with anticipatory guidance. We describe the case of a toddler with overgrowth syndrome, and previously known ophthalmological and neurological findings, presenting with decreased level of consciousness (LOC) following a fall. We highlight the extensive workup undertaken in a patient with symptoms spanning multiple systems but lacking a unifying diagnosis. In this case, rapid whole exome sequencing identified a de novo CACNA1A gene mutation encoding a calcium channel subunit, located within chromosome region 19p13.13. We explore 19p13.13 Microdeletion Syndrome and compare our patient’s presentation to the cases described in the literature. Although our patient had several symptoms consistent with 19p13.13 Microdeletion Syndrome, others remain unexplained. This highlights the difficulty in determining a definitive diagnosis or treatment plan in the realm of rare diseases and emphasizes the need for further research into the disease process and development of novel therapies.
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