Triple Diagnosis of Crohn's Disease, Celiac Disease, and Eosinophilic Esophagitis in a Child With Siderius-Hamel Syndrome

WMJ. 2019 Oct;118(3):140-142.

Abstract

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.

Publication types

  • Case Reports

MeSH terms

  • Biopsy
  • Celiac Disease / diet therapy
  • Celiac Disease / etiology*
  • Child
  • Crohn Disease / diet therapy
  • Crohn Disease / etiology*
  • Eosinophilic Esophagitis / diet therapy
  • Eosinophilic Esophagitis / etiology*
  • Humans
  • Male
  • Mental Retardation, X-Linked / complications*

Supplementary concepts

  • Siderius X-linked mental retardation syndrome