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

Abstract

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 myenteric plexuses and leads to intestinal obstruction with abdominal distention, intestinal stasis and vomiting. This may produce hypokalemic and hypochloremic metabolic alkalosis with secondary hyperreninemia and hyperaldosteronism, known as pseudo-Bartter's syndrome. We describe a case of pseudo-Bartter's syndrome due to Hirschsprung's disease in a neonate with supernumerary ring chromosome 8 (46XX, 47XX + r(8)). Symptoms resolved partially after symptomatic treatment with fluid and electrolyte repletion and completely disappeared after colostomy by taking away the causal factor.