Hirschsprung disease

Abstract

Hirschsprung disease is a relatively common condition managed by pediatric surgeons. Significant advances have been made in understanding its etiologies in the last decade, especially with the explosion of molecular genetic techniques and early diagnosis. The surgical management has progressed from a two- or three-stage procedure to a primary operation. More recently, definitive surgery for Hirschsprung disease through minimally invasive techniques has gained popularity. In neonates, the advancement of treatment strategies for Hirschsprung disease continues with reduced patient morbidity and improved outcomes.

Building a second brain in the bowel

“…However, ENS defects may underlie common problems such as irritable bowel syndrome (IBS) (3) and less common problems such as Hirschsprung disease (HSCR) (4,5), chronic intestinal pseudoobstruction syndrome (CIPO) (6), or gastroparesis (7). HSCR is a life-threatening birth defect in which the ENS is completely missing from distal bowel.…”

Calretinin immunohistochemistry: a simple and efficient tool to diagnose Hirschsprung disease

“…Standard histology obtained from rectal suction biopsies that sample mucosa and underlying submucosa, demonstrating rectal aganglionosis, requires the analysis of 100 or more histological sections to ensure good specificity, and is therefore time consuming. Moreover, difficulties in analysis may arise in several situations: (1) when the site of biopsy is too distal, because of the physiological paucity of ganglion cells; (2) when the sample is too superficial with not enough submucosa; and (3) when there is difficulty in identifying ganglion cells with confidence, particularly in neonates.…”

Enfermedad de Hirschsprung en un adulto

“…El estreñimiento intermitente (en el 66% de los pacientes) se inicia en el periodo de neonato; puede ocurrir distención abdominal y vómitos. Si el estreñimiento no tiene una causa mecánica (atresia intestinal, íleo meconial, malrotación o ano imperforado) debe pensarse en un EH (5).…”

“…El estudio radiológico simple y contrastado, en posición anteroposterior y lateral, permite apoyar el diagnóstico cuando hay un segmento estenosado (agangliónico), generalmente de recto o rectosigmoide (80%-85% de los casos) (6). La mayoría de los autores (5), no todos (6), plantean que antes de practicar la cirugía correctiva debe tenerse la certeza del diagnóstico positivo, que se establece solo con la biopsia de la pared rectal, la cual tiene una sensibilidad y una especificidad cercana a 100% (6). Histológicamente, la EH se caracteriza por la ausencia de células ganglionares parasimpáticas, acompañada frecuentemente por hipertrofia de los troncos nerviosos (69%) (7), como en este caso.…”