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

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.