Hirschsprung's disease
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quote from "Pediatric Colorectal Conundrums: Case Studies: From Fundamental to Advanced (Pediatric Colorectal Surgery)" by Marc Levitt, Thomas Xu, Hussein Wissanji - "Anorectal manometry is sometimes used to diagnose HD; however, its diagnostic accuracy is limited in children under the age of 12 months. It is a helpful adjunct in diagnosing older children who struggle with constipation due to a delayed diagnosis of HD. One of the characteristics of HD is that patients cannot relax their internal anal sphincter in response to rectal distension, otherwise known as the rectoanal inhibitory reflex (RAIR). Anorectal manometry can screen for the absence of this reflex, which is…
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quote from "Pediatric Colorectal Conundrums: Case Studies: From Fundamental to Advanced (Pediatric Colorectal Surgery)" by Marc Levitt, Thomas Xu, Hussein Wissanji - "Classically, it had been considered that an ileoanal pull-through should not be performed until urinary continence was achieved. The main reason for this recommendation was to avoid severe irritation of the perineal skin due to frequent stooling after proctocolectomy which could be improved if the child could sit on the potty. However, the treatment of perineal skin and in the medical management of hypermotility with loperamide and resins in combination with irrigations have so improved that waiting on the p…
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Quote from "The SAGES Manual of Pediatric Minimally Invasive Surgery" by Danielle S. Walsh, Todd A. Ponsky, Nicholas E. Bruns - "Suction rectal biopsy is the gold standard for making the diagnosis. There is a normal paucity of ganglia in the region of the internal sphincter; therefore the biopsy should be taken at least 1–2 cm above the dentate line. Acetylcholinesterase staining will demonstrate hypertrophied nerve trunks and a lack of normal ganglia in classical HD. Loss of calretinin immunostaining is also consistent with the diagnosis of HD [23]."
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quote from "Pediatric Colorectal Conundrums: Case Studies: From Fundamental to Advanced (Pediatric Colorectal Surgery)" by Marc Levitt, Thomas Xu, Hussein Wissanji - "A colonic resection based solely on a frozen section must be avoided in patients who have an aganglionic zone proximal to the left colon. This is because proximal to the splenic flexure you cannot expect to see hypertrophic nerves (the sacral plexus does not innervate that bowel). Therefore, you are completely dependent upon your pathologist identifying ganglion cells on frozen section which is prone to sampling bias /false negatives. This is due to artifact in the tissue that can occur from the freezing pro…
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Harald Hirschsprung;1888 [My first specimen] is a colon, but a colon of such a size that it will no doubt surprise you to learn that it comes from a child only 11 months old when it died.... Only [the] rectum was not dilated, nor indeed subject to any obstruction. ahrbuecher für Kinderheilkunde
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