Eighty‐eight specimens of esophagus, small intestine, or colon from 45 patients, predominantly infants and children, with 30 different genetic diseases were analyzed by a microdissection technique for the following abnormalities of the Aucrbach (myenteric) plexus: (1) abnormality of the pattern of the nervous network of the plexus, (2) abnormal fraction of neural tissue in the plane of the plexus, (3) abnormal size or appearance of the cytoplasm of the neurons of the plexus, and (4) abnormal number of neurons in the ganglia of the plexus. Seven of 8 specimens of esophagus from patients with neuronal storage diseases (infantile Niemann‐Pick disease, Jansky‐Bielschowsky disease, etc.) showed an increased fraction of neural tissue in the plane of the plexus, whereas 2 of 3 patients with Cockayne syndrome showed a reduced fraction, with abnormally slender interganglionic fibers. The fraction of neural tissue in the plane of the plexus was also abnormal at one or more levels in patients with adrenoleukodystrophy, ataxia telangiectasia, Krabbe disease, and juvenile metachromatic leukodystrophy. Abnormality of neuron size and cytology was seen in several neuronal lipidoses, including Jansky‐Bielschowsky and Sandhoff diseases and juvenile GM2 gangliosidosis, with the most striking neuronal enlargement noted in infantile Niemann‐Pick disease. Abnormalities of plexus mass or pattern, as well as those of neuronal cytoplasm and neuron number, offer improved insight into possible mechanisms producing gastrointestinal tract dysfunction (swallowing difficulty, gastroesophageal reflux, constipation, etc) in patients with genetic disorders.
We compared the results of acetylcholinesterase (AChE) staining of mucosal rectal biopsy specimens with those using neuropeptide Y (NPY) and protein gene product 9.5 (PGP9.5) in biopsies from 68 patients. Thirty-three did not have Hirschsprung's disease (HD), 28 had proven HD, and biopsies from 7 patients had shown a slight increase in AChE stain but the patients did not have HD. In our hands, AChE stain was superior to the other two; it was easier to read and gave the most accurate results with no false-positive cases and only two instances in which the findings were suggestive but not diagnostic. Neuropeptide Y and PGP9.5 have the advantage that they can be used in paraffin-embedded material. With NPY, the results are closer than with PGP9.5 to those obtained with the AChE. Protein gene product 9.5 had the highest incidence of false-positive and false-negative results, but it stains nerve fibers and all neurons intensely and may be useful in the assessment of increased or decreased amounts of neural elements in the bowel.
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