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Demonstration of myenteric plexus abnormalities in genetic diseases by a microdissection technique: preliminary
D A Galvis1, Y Nakazato, T R Wells
1Department of Pathology, Childrens Hospital of Los Angeles, CA 90027.
Abstract:
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 Auerbach (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.
Insights
Genetic diseases impact the Auerbach plexus in infants and children, causing abnormal neural tissue fractions and neuron changes. These alterations offer insights into gastrointestinal dysfunction in affected patients.
Area of Science:
- Gastroenterology
- Neuropathology
- Pediatric Genetics
Background:
- Gastrointestinal (GI) dysfunction is common in pediatric genetic disorders.
- The Auerbach (myenteric) plexus, crucial for GI motility, is often implicated.
- Understanding neuropathological changes in the Auerbach plexus is key to explaining GI symptoms.
Purpose of the Study:
- To investigate abnormalities in the Auerbach plexus in pediatric patients with genetic diseases.
- To correlate specific Auerbach plexus changes with different genetic conditions.
- To elucidate mechanisms underlying GI dysfunction in these patients.
Main Methods:
- Microdissection of 88 esophageal, small intestine, and colon specimens from 45 patients.
- Analysis of Auerbach plexus for neural network pattern, neural tissue fraction, neuron size/cytology, and neuron number.
- Inclusion of patients with 30 diverse genetic diseases, focusing on infants and children.
Main Results:
- Increased neural tissue fraction observed in neuronal storage diseases (e.g., Niemann-Pick, Jansky-Bielschowsky).
- Reduced neural tissue fraction and slender fibers noted in Cockayne syndrome.
- Abnormal neural tissue fractions also found in adrenoleukodystrophy, ataxia telangiectasia, Krabbe disease, and juvenile metachromatic leukodystrophy.
- Abnormal neuron size and cytology, particularly neuronal enlargement, seen in neuronal lipidoses like infantile Niemann-Pick disease.
Conclusions:
- Auerbach plexus abnormalities (mass, pattern, neuron size/cytology, neuron number) are linked to genetic disorders.
- These neuropathological findings provide insights into GI motility issues such as dysphagia and constipation.
- Targeted analysis of the Auerbach plexus aids in understanding the pathophysiology of GI dysfunction in genetic conditions.