“New insights” in the diagnosis management of hirschsprung disease

“NEW INSIGHTS” IN THE DIAGNOSIS & MANAGEMENT OF HIRSCHSPRUNG DISEASE TRAN QUOC VIET MD PHD CHILDREN’S HOSPITAL 2, HCMC HISTORY REVIEW Ø 1888: patients “Toxic megacolon”, Berlin, Germany Ø 1948: Zuelzer and Wilson: Absence of ganglion cells in the distal segment HD: a congenital neurogenic basis Ø 1948: Barium enema: Area of spasm in the rectum or rectosigmoid Useful diagnostic tool [*] Ø 1949: Swenson operation Harald Hirschsprung (1830 -1916) [*]: Swenson O (1999) How the cause and cure of Hirschsprung’s disease was discovered J Pediatr Surg 34:1580–1581 Ovar Swenson (1909 -2012) DEFINITION & PATHOPHYSIOLOGY Figure from Enteric nervous system development and Hirschsprung disease: advances in genetic and stem cell studies Nat Rev Neurosci 2007 Jun;8(6):466-79 WORK-UPS Clinical symptoms Contrast Enemas Rectal Suc7on Biopsy* (29/12/2014) Anorectal Manometry ** (19/3/2015) *Tran VQ et al./ Journal of Pediatric Surgery 51(2016) 2005-2009 ** Tran VQ et al./ Journal of Neurogastroenterology and MoElity 2017 HISTOPATHOLOGICAL FINDINGS - 1959 Swenson et al.: - Contrast enema was not always diagnos8c (neonates…) - Full-thickness rectal biopsy for a 8ssue diagnosis - 1960, Gherardi: aganglionosis was similar in submucosal and myenteric plexuses - 1968, Meier-Ruge: effec8ve use of submucosal rectal biopsy Rectal suc8on biopsy: preferred technique to diagnose Hirschsprung’s disease [*] Enteric Nervous system (Autonomic Nervous System) [*] Teitelbaum et al., 2000, A decade of experience with the primary pull-through for Hirschsprung disease in the newborn period: a multicenter analysis of outcomes Ann Surg 232:372–380 RECTAL SUCTION BIOPSY 1969 Campbell and Noble0: rectal suc7on biopsy tube Campbell, P E and H R Noblett (1969) "Experience with rectal suction biopsy in the diagnosis of Hirschsprung's disease." J Pediatr Surg 4(4): 410-415 DISTRIBUTION OF GANGLION CELLS AND EXTRINSIC INNERVATIONS OF THE BOWEL IN HD Diagram illustraEng the distribuEon of ganglion cells and extrinsic innervaEons of the bowel in HD, from Kapur et al 2012 Schema of in Hirschsprung topographic histopathology: (a) full-thickness colon analysis; (b) submucosal