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a clinical pearl Biopsy in HD
- Thread starter Ahmed Nabil
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Magdilolah
Professor
I agree
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]."
"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]."