Hirschsprung's disease in a genetically diagnosed Cri-du-chat syndrome baby

Abstract

Hirschsprung's disease (HSD) is a congenital disease characterized by the absence of ganglion cells in the myenteric and submucosal plexuses of the gastrointestinal tract. Many genetic causes of HSD have been investigated, although the most common and widely accepted is the RET gene located on chromosome 10q11.2. The presence of other coinciding genetic abnormalities with HSD, such as Cri-du-chat (CDC) syndrome, might provide a better understanding of the genetic bases of the disease. We present a case of a term baby boy who had features of Cri-du-chat syndrome at birth that were confirmed genetically. Later, the patient developed features of lower GI obstruction and was diagnosed with HSD by suction rectal biopsy. He underwent surgery and recovered well. We conclude that physicians involved in the care of babies with CDC and lower GI obstruction should consider the possibility of HSD and investigate accordingly. Additionally, when CDC and HSD coexist in a patient, the CDC genotype should be determined by whole exome sequencing and examined to identify mutations associated with HSD.