There was no problem/ controversy regarding diagnosis of aganglionosis
but when we talk of ganglionic segments actually it may include the normal number of ganglion cells and allied HDs, which are hypoganglionosis, hyperganglionosis and immature ganglion cells.
However for children in a poor condition such as total colonic aganglionosis
, low birth weight, and severe HAEC, a multistage surgery is more conservative.
Although, this condition was described by Fredericus Ruysch in 1691 and popularized by Harald Hirschsprung in 1886, the pathophysiology was not clearly determined until the middle of the 20th century, when Whitehouse and Kernohan described the aganglionosis
of the distal intestine as the cause of obstruction in their series of 11 patients who died of megacolon, published in 1948.
11) Mucosectomy, aganlionic segment colectomy and normoaganlionic colon pull-through was performed by this approach, but long-segment bowel aganglionosis
were not resectable by this technique.
In retrospect the resected distal ileum and cecum were analyzed and showed absence of ganglion cells, supporting the diagnosis of total aganglionosis
Waardenburg syndrome (WS) and Hirshsprung disease are examples of these neurocristopathies and patients suffer symptoms ranging from sensorineural hearing loss and pigmentation defects to intestinal aganglionosis
The clinical spectrum of manifestations is broad, but can be summarised as craniofacial abnormalities including cleft palate and microcephaly, postaxial polydactyly and syndactyly of the toes, cardiac defects, pyloric stenosis, aganglionosis
of the colon and ambiguous genitalia.
Hirschsprung disease (HD) appears as a result of anomalies in enteric nervous system development and neural cell crest migration during embryogenesis, determining aganglionosis
in a variable portion of the gut, usually affecting the rectum and distal colon [1-4].
In conclusion, calretinin provides a very reliable adjunctive test in the evaluation of RSBs for HD and, in our opinion, should be routinely used as an additional tool, similar to presence of hypertrophic nerves or AChE histochemistry, particularly because surgeons are often looking for an additional corroborative histologic finding to aganglionosis
before undertaking surgery.
Discussion includes characteristics of classical and ultrashort Hirschsprung's disease; total intestinal aganglionosis
and hypoganglionosis; new diseases like intestinal neuronal dysplasia, desmosis coli, leiomyopathy, architectural malformation, and stretching lesions of muscularis propria; and atrophic desmosis.
La realizacion de procedimientos diagnosticos un tanto mas sofisticados, como la medicion de presiones mediante aditamentos instalados en la ampolla rectal, en casos de incontinencia fecal y/o sospecha de aganglionosis
intestinal, megacolon y enfermedad de Hirschprung, entre otras.
The grandmother (I2) carries the mutation but does not display a HSCR phenotype, suggesting that RET haploinsufficiency alone is necessary but not sufficient to cause aganglionosis