Classification and diagnostic criteria of variants of Hirschsprung’s disease

Megacystis Megacolon Intestinal Hypoperistalsis Syndrome: A Rare Entity!

“…Also known as Pseudo HD [12,13], these can be distinguished from HD based on the histipathological findings [13]. Puri et al [7,14] called this group as variants of HD that included 4 disorders: intestinal neuronal dysplasia(IND); isolated hypoganglionosis; internal anal sphincter achalasia; and MMIHS [14]. Our case presented with the typical clinical features suggestive of neonatal intestinal obstruction.…”

Intestinal neuronal dysplasia type B: A still little known diagnosis for organic causes of intestinal chronic constipation

“…All of these changes in the proposed histopathological criteria for the diagnosis of INDB have not only caused disparities in its definitions but also skepticism about its existence. The main unsolved problem highlighted in recent publications is if there is a causal relationship between the histological findings and clinical symptoms that would justify the characterization of INDB as a specific entity [2,4,6,23] . Regarding this situation, the current opinions converge on the need for further research to elucidate the many uncertainties about the clinical and morphological characterization of INDB [2,4,24] .…”

“…Occasionally, INDB symptoms mimic those of HD, which is its main differential diagnosis. All IND cases associated with HD are of the B subtype [1,4,6,26] .…”

“…Anorectal manometry can reveal absence or presence of an anorectal inhibitory reflex, commonly with atypical morphology, which contributes little to the diagnostic investigation of INDB [5,31,89] . Thus, the diagnosis of INDB essentially relays on histopathological analyses of rectal biopsies [2,4] . The morphological criteria for its diagnosis have changed substantially over the years, leading to difficulties for clinical practice and comparisons between studies.…”

“…More than 40 years after its original description [3] , the pathology of IND remains incompletely elucidated. Commonly, IND is associated with clinical symptoms of intestinal chronic constipation that affect children in their first years of life, similar to those of HD, but IND has its own histopathologic features characterized by hyperplasia of the submucosal nerve plexus [4] . Despite the intense scientific research performed in the last decades which includes more than 250 published scientific articles, there are still gaps in the knowledge on IND's definition, pathogenesis, diagnostic criteria and therapeutic possibilities [2,5,6] .…”