“New insights” in the diagnosis management of hirschsprung disease

Ø 1949: Swenson operation [*]: Swenson O 1999 How the cause and cure of Hirschsprung’s disease was discovered... DEFINITION & PATHOPHYSIOLOGYFigure from Enteric nervous system developmen

“NEW INSIGHTS” IN THE DIAGNOSIS

TRAN QUOC VIET MD PHD CHILDREN’S HOSPITAL 2, HCMC

Ovar Swenson (1909 -2012)

Harald Hirschsprung (1830 -1916)

Ø 1888: 2 patients “Toxic megacolon”, Berlin,

Germany

Ø 1948: Zuelzer and Wilson: Absence of ganglion cells in

the distal segment à HD: a congenital neurogenic basis

Ø 1948: Barium enema: Area of spasm in the rectum or

rectosigmoid à Useful diagnostic tool [*].

Ø 1949: Swenson operation

[*]: Swenson O (1999) How the cause and cure of Hirschsprung’s disease was discovered J Pediatr Surg 34:1580–1581

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.

Clinical symptoms

Contrast Enemas

Anorectal Manometry **

(19/3/2015)

Rectal Suc7on Biopsy*

(29/12/2014)

4

* 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

à Rectal suc8on biopsy: preferred technique to diagnose Hirschsprung’s

disease [*] (Autonomic Nervous System) Enteric 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

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

1969 Campbell and Noble0: rectal suc7on biopsy tube.

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 <ssue; (c) seromuscular <ssue Modified from Christensen et al 2008

RECTAL SUCTION BIOPSY

4cm

RECTAL SUCTION BIOPSY

RSB at Children’s Hospital 2

CALRETININ IMMUNOHISTOCHEMICAL STAININGS