Neonatal Hirschsprung's disease.

ABSTRACT

Since the classic description of this disease by Harold Hirschsprung's. In 1886 just over a century ago, there has been a marked evolution in the diagnostic modalities, understanding of the pathophysiology, unraveling of genetic association and the treatment approach of this disease. Recent research on the molecular biology of the disease has bestowed us with a clearer understanding of the pathogenesis of the disease. Genetic deletions have been identified which explain the familial incidence of 3.6%-7.8%, and in some kindreds the inheritance rate approaches 50%. Improvement in the diagnostic approaches has evolved from full thickness rectal biopsy (under GA) to suction rectal biopsy. The development of the histochemical staining for acetylcholinesterase, allows rapid identification in the lamina propria of hypertrophied extrinsic nerve fibers which have proliferated in the absence of intrinsic ganglion cells. Frozen sections now permit screening for normal ganglia in the myenteric plexus from seromuscular biopsies during the definitive pull-through procedures or leveling colostomy. This service, however, requires significant infrastructure and an expert pathologist, not widely available. Hirschsprung's disease (HD) variants like intestinal neuronal dysplasia(IND), hypoganglionosis are better identified and treated with availability of histochemical staining. The three-stage procedure till date remains the gold standard; however, increasingly, the world over, two stage and even single stage procedures are being tried. In the era of minimally invasive surgery, perineal pull through procedure has been attempted with or without laparoscopic assistance.