A 3-day-old girl referred from her pediatrician for oral ulcerations

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Abstract

A 3-day-old girl was referred from her pediatrician for oral ulcerations. The patient was otherwise well appearing and afebrile. Her prenatal and antenatal courses were unremarkable, except for a failed routine hearing screen. The patient's examination was notable for several yellowish ulcers on erythematous bases located on her anterior tonsillar pillars. The patient also had a right coloboma and a II/VI systolic ejection murmur. Laboratory analyses revealed a traumatic lumbar puncture with 182 000 red blood cells and 808 white blood cells, as well as a complete blood count that showed thrombocytopenia and leukocytosis. During the patient's hospitalization, she developed a new facial rash. Her physical examination findings, along with her diagnostic evaluation and hospital course, ultimately led to 2 surprising diagnoses elaborated on in this case discussion.

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Neel, M. L., Kern, J., & Ronis, T. (2016). A 3-day-old girl referred from her pediatrician for oral ulcerations. Pediatrics, 138(3). https://doi.org/10.1542/peds.2015-2043

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