Does short bowel syndrome increase the risk of food allergy and eosinophilic gastrointestinal disease? Observations in Shah-Waardenburg syndrome

摘要

Waardenburg syndrome (WS) is a congenital disorder characterized by sensorineural hearing loss and pigmentation abnormalities of the skin, hair, and irides. There are 4 different clinical types of WS, type I through IV, and their molecular basis is heterogeneous. WS type 4 (Shah-Waardenburg syndrome [SWS]) is characterized by association of the clinical features of classical WS and Hirschsprung disease. SWS is caused by homozygous mutations in the endothelin receptor type B (EDNRB) gene for type 4A, homozygous mutations of the endothelin 3 gene (EDN3) for type 4B, and heterozygous mutations of SOX10 encoding an SRY box 10 transcription factor and leading to defects in neural crest development for type 4C.1 Although the incidence of WS is 1:40,000, the incidence of SWS is unknown. Patients with SWS who have long-segment Hirschsprung disease have short bowel syndrome (SBS) after surgery. We report 2 cases of SWS and SBS with suspected food allergy and eosinophilic gastrointestinal disease. We have not been able to find reports of this constellation in the medical literature.