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Hirschsprung Disease : Acetylcholine-esterase

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Aganglionic segments in Hirschsprung disease show increased expression of acetylcholinesterase (AChE) in the hypertrophic nerve fibers in the lamina propria as shown in this image. Normal nerves do not stain with AChE.

False positive and false negative results with AChE staining do occur. False negative results are related to age. Absence of AChE staining does not exclude Hirschsprung disease in neonates within first 3 weeks of life. One study has shown absence of calretinin staining to be superior and more reliable marker than increased AChE staining for the diagnosis of Hirschsprung disease. Image copyright: pathorama.ch

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