Variations of prominent antihelices noted in association with CHARGE syndrome. Reprinted with permission A 3 day old is referred to you by her pediatrician for oral ulcers. What are you concerned about when you get the call? What if you find out that this patient failed her newborn hearing screen? Would that change your diagnostic and therapeutic approach? What other diagnoses would be in your differential? How would you begin your workup for this patient – and would you begin any presumptive treatment at this point?
Our patient’s left and right fundus photographs. The left photograph shows her extensive chorioretinal coloboma, and the right photograph shows her normal fundus. Photo courtesy of Dr Heather De Beaufort, MD, Children’s National Medical Center, Washington, DC.
This month’s Diagnostic Dilemmas and Clinical Reasoning case (peds.2015-2043) starts out with this chief complaint of oral ulcers in a 3 day old who failed the newborn hearing screen. You will be fascinated to see how this case evolves, and the twists and turns that it takes. This case also reminds us that there are some diseases that are “can’t miss” diagnoses – these are the ones that are most important to exclude – or to treat for while you’re excluding them.
