Decreased density of ganglia and neurons in the myenteric plexus of familial dysautonomia patients.
BACKGROUND
Familial dysautonomia (FD) is a hereditary disease of the autonomic and sensory nervous system. A prominent manifestation of FD is gastrointestinal dyscoordination, which contributes to the morbidity and mortality in FD.


OBJECTIVE
As the myenteric plexus is an essential factor in gastrointestinal motility control, we compared its morphology in appendices of FD patients and controls.


METHODS
Appendices from FD patients (N=19) were obtained during surgery of fundoplication and gastrostomy; normal appendices (N=17) were obtained from patients suspected to suffer from acute appendicitis, in whom, however, the appendix was found to be normal. Specimens were stained histochemically for NADPH diaphorase (NADPH-d) and in a blinded manner examined under a light microscope for seven morphologic parameters: ganglionic density, neuronal density, ganglionic area, number of stained neurons per ganglion, nerve bundle width, ratio between nervous tissue area and total area, and neuronal area.


RESULTS
Ganglionic density was 10.13 per mm(2) in controls versus 5.01 per mm(2) in FD (p<0.05). Neuronal density was 70.12 per mm(2) in controls, compared with 22.09 per mm(2) in FD (p<0.01). The other parameters were not different between the two groups.


CONCLUSIONS
Densities of myenteric ganglia and neurons of FD patients were significantly lower than in controls. This deficiency may contribute to the pathogenesis of FD gastroenteropathy.
Bar-Shai
Amir
A
The Laboratory of Experimental Surgery, Hadassah University Hospital, Mount Scopus, P.O. Box 24035, Jerusalem 91240, Israel.
Maayan
Channa
C
Vromen
Amos
A
Udassin
Raphael
R
Nissan
Aviram
A
Freund
Herbert R
HR
Hanani
Menachem
M
D000293:Adolescent; D000328:Adult; D001065:Appendix / Q000473:pathology; D002452:Cell Count; D002648:Child; D002675:Child, Preschool; D004402:Dysautonomia, Familial / Q000473:pathology*; D005260:Female; D005724:Ganglia / Q000473:pathology*; D006651:Histocytochemistry / Q000379:methods; D006801:Humans; D007223:Infant; D008297:Male; D009197:Myenteric Plexus / Q000473:pathology*; D009252:NADPH Dehydrogenase; D009474:Neurons / Q000473:pathology*
D009252:NADPH Dehydrogenase