Rajni Ahlawat, MD; Nirzar S. Parikh, MD; Ajay Jhaveri, MBBS, DNB
Siderius-Hamel syndrome is a rare condition characterized by intellectual disability and distinct facial features. Crohn’s disease-related eosinophilic esophagitis (EoE) has been reported; however, an association between celiac disease and EoE remains controversial. We present a case of a child with Siderius-Hamel syndrome who had characteristic findings of all these conditions— Crohn’s disease, celiac disease, and EoE—an occurrence that to our knowledge has not been reported previously. The purpose of this report is to make physicians aware of this rare occurrence, so that it can be kept in mind while evaluating a patient with Siderius-Hamel syndrome presenting with gastrointestinal complaints.