Hirschsprung Disease
Sana Ahmad Qureshi
Although there were sporadic case reports of pediatric colonic obstruction since 1691, Dr Harald Hirschsprung, a pediatrician from Copenhagen, first published observation of the pathologic megacolon in 1886.
In 1920 Dalla Valle described the local absence of ganglion cells in the sigmoid colon in 2 brothers.
Dr Swenson, Neuhauser, and Picket in Boston in 1948 noted the area of rectal spasm using barium enema, and Dr Swenson went on to perform the first colonic resection and coloanal anastomosis for Hirschsprung disease.
Dr Soave in 1963 from Italy described the endorectal pullthrough procedure to approximate normal innervated bowel with the perineum.1
RELEVANT ANATOMY
The ascending and proximal two-thirds of the transverse colon receive blood supply from the superior mesenteric artery (SMA) and vein, which is derived from the midgut.
The distal third of the transverse colon and descending colon and rectum receive blood supply by the inferior mesenteric artery (IMA) and vein derived from the hindgut.
The rectum forms as the sigmoid colon’s taeniae converge and is supplied by the superior rectal arteries (from the IMA) and middle and inferior rectal arteries (from the internal iliac arteries).
Preganglionic sympathetic nerves from T6-T12 → preaortic ganglia → postsympathetic nerves → right vagus nerve → right and transverse colon.
Preganglionic sympathetic from L1-L3 → preaortic plexus → postganglionic nerves → left colon, sigmoid, and rectum.
Vagus nerve → parasympathetic nerves → right and transverse colon.
Nervi erigentes (pelvic parasympathetic nerves S2-S4) → left colon, sigmoid, and rectum.2
EPIDEMIOLOGY AND ETIOLOGY
Vagus nerve → parasympathetic nerves → right and transverse colon.
Nervi erigentes (pelvic parasympathetic nerves S2-S4) → left colon, sigmoid, and rectum.2
Incidence: occurs in 1 in 5000 lives births in both hemi-spheres and is still undefined in other races, although studied in Caucasians.
Males are 4 times more affected than females.3
The genetic component has relation not only to the RET proto-oncogene mutation, but also to the endothelin, SOX-10, S1P1, and Phox2B.5
It is also associated with Down syndrome (100 times greater risk).
Etiology: developmental disorder of enteric nervous system with failure of neural crest cell (NCC) migration caudally toward rectum.3
Another theory is that the NCCs fail to survive or proliferate after migration.5
Aganglionosis starts from anorectal line and affects rectosigmoid in 80% of patients, splenic and transverse colon in 17%, and the entire colon in 8%.2
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