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Primary developmental disorders of the human enteric nervous system can be grouped into those characterised by an abnormal number of neurones (hyperganglionosis, hypoganglionosis, aganglionosis) versus abnormal differentiation of neurones (biochemical and/or physiological).1 In each case, the clinical presentation may be similar with a predominance of obstructive symptoms. Comprehensive evaluation of such patients usually involves histopathological studies of a rectal biopsy. However, objective criteria necessary to define and diagnose many enteric dysganglionoses are poorly established or impractical to implement. As a consequence, intestinal aganglionosis and some forms of intestinal hyperganglionosis (for example, MEN2B) may be the only developmental disorders of enteric neurodevelopment that are consistently recognised by most paediatric pathologists. Enteric neurones can also be impaired secondarily by constitutive metabolic defects (for example, lysosomal storage disorders) or acquired forms of injury (for example, ischaemia) but only primary enteric dysganglionoses will be considered in this paper.
Intestinal aganglionosis
Congenital intestinal aganglionosis (Hirschsprung disease, HSCR) is characterised by complete absence of ganglion cells in the submucosal and myenteric plexi. Diagnosis is usually established by histological analysis of suction rectal biopsies that sample small amounts of rectal submucosa (fig 1). Although the sensitivity and specificity of this approach are generally high, reliability depends a great deal on the quality of the biopsy, number of sections examined, and experience of the pathologist.2 The normal sparse distribution of submucosal ganglia necessitates correct sampling and evaluation of multiple tissue sections to avoid …
Footnotes
- Abbreviations used in this paper:
- HSCR
- Hirschsprung disease
- IND
- intestinal neuronal dysplasia