Characterization of bacterial and fungal microbiome in children with Hirschsprung disease
with and without a history of enterocolitis: A multicenter study.
In other cases of suspected Hirschsprung disease
, barium suspension diluted 50% with normal saline was injected slowly.
The presented case is individualized by an early occurrence of enterocolitis complicating an early diagnosed Hirschsprung disease
, complication which could have signed a negative prognosis on patient's outcome.
Calretinin immunohistochemistry: a simple and efficient tool to diagnose Hirschsprung disease
Clinicopathological features in 102 cases of Hirschsprung disease
R Gath, A Goessling, et al, Analysis of the RET, GDNF, EDN3, and EDNRB genes in patients with intestinal neuronal dysplasia and Hirschsprung disease
, Gut: 2001, 48:671-675.
remains a challenging diagnosis for pediatric pathologists and especially for general pathologists who do not see these cases sufficiently to gain experience and are unfamiliar with optimal handling of specimens.
Loss of function effect of RET mutations causing Hirschsprung disease
Yamamoto T, Hayashi Y, Suzuki H, et al: Early onset of cecal perforation in neonatal, rectosigmoid type Hirschsprung disease
Investigations related to possible organic causes of constipation should be undertaken if initial treatment efforts fail, or in the minority of cases where there is a history suggestive of Hirschsprung disease
or other organic causes.
The RET protooncogene is expressed in human tissues of neural crest origin and has been recognized as a susceptibility gene for several autosomal inherited diseases, such as the multiple endocrine neoplasia type 2 syndromes, familial medullary thyroid carcinoma, and Hirschsprung disease
(HD) is characterized histologically by the absence of autonomic ganglion cells in the myenteric and submucosal plexuses and by the presence of hypertrophied nerve trunks in the space normally occupied by the ganglion cells in the terminal bowel.