Pseudo-Bartter's Syndrome due to Hirschsprung's disease in a neonate with a ringchromosome 8

Chromosome 8 is the largest chromosome found to be trisomic among live-born infants. Live-born infants usually have trisomy 8 mosaicism. The supernumerary chromosome in a trisomic condition may additionally also be a ring chromosome, known as supernumerary ring chromosomes. This condition leads to congenital anomalies overlapping with trisomy 8 syndrome. Hirschsprung's disease is the main genetic cause of functional intestinal obstruction and is known to be associated with trisomy 8 mosaicism. Hirschsprung's disease is characterized by the absence of parasympatic intrinsic ganglion cells in the submucosal and my…