A neonate with this extreme form of Hirschsprung's disease is presented with a review of 12 previously reported cases. [jhu.pure.elsevier.com]

Similar to Hirschsprung disease, most patients present as neonates, or less commonly as infants 7. Very rarely do patients present beyond infancy. [radiopaedia.org]

Ganglion cells present, recommend pullthrough resection at least 5 cm proximal to site of this biopsy. [pathologyoutlines.com]

The clinical presentation with neonatal intestinal obstruction may not be part of the clinical picture of HDACT. [elsevier.es]

• Bilious Vomiting

  In the post-operative period, the patient evolved with intolerance (abdominal distension and bilious vomiting) to minimum volumes of elemental formula infused via nasogastric tube. [elsevier.es]

  The most common presenting features, observed in nine patients, were abdominal distension associated with bilious vomiting and failure to pass meconium. The other two patients presented with toxic megacolon. [bmcsurg.biomedcentral.com]

A barium enema was performed during the initial diagnostic workup in ten of the eleven cases. The radiological findings were nonspecific and only allowed for the recognition of a functional ileal obstruction. [bmcsurg.biomedcentral.com]

H-J.K: data analysis, proof reading and surgical treatment of the patients. JF: study design, proofreading and surgical treatment of the patients. All authors have read and approved the final version of the manuscript. [bmcsurg.biomedcentral.com]

Initial therapy in six of the patients was an ileostomy in ganglionic bowel, and final operative treatment was either a Swenson or Duhamel procedure. One patient who had an associated ileal atresia has a permanent ileostomy. [jamanetwork.com]

Treatment and prognosis Multiple procedures have been devised to treat the condition, including ileorectal anastomosis, ileum pouch anal anastomosis without a clearly superior method 4,8. [radiopaedia.org]

Ikeda K, Goto S (1984) Diagnosis and treatment of Hirschsprung’s disease in Japan. Ann Surg 199:400–405 PubMed Article CAS Google Scholar 13. [link.springer.com]

Antibiotics for HAEC were the most frequent medical treatment reported: 24 (26 per cent) used regular treatment with metronidazole in combination with trimethoprim–sulfamethoxazole, oral vancomycin or amoxicillin, and in addition two patients (2 per cent [bjssjournals.onlinelibrary.wiley.com]

Treatment and prognosis Multiple procedures have been devised to treat the condition, including ileorectal anastomosis, ileum pouch anal anastomosis without a clearly superior method 4,8. [radiopaedia.org]

[…] identified in these cases, such as incomplete resection of the aganglionic segment, hypoganglionosis, and intestinal neuronal dysplasia juxtaposed to the aganglionic zone.4 The present article reports a case in which difficulties of diagnosis, therapy, and prognosis [elsevier.es]

[…] contribute to spasticity Numerous alterations in expression of various receptors, channels, cytoskeletal proteins, neurotrophic factors and other molecules described in ganglionic bowel but functional significance unclear (Pediatr Dev Pathol 2020;23:40) Etiology [pathologyoutlines.com]

[…] aganglionosis; may be longer in long segment aganglionosis; may cause persistent obstructive symptoms if not resected with aganglionic segment (Am J Surg Pathol 2016;40:1637) ICD coding ICD-10: Q43.1 - Hirschsprung disease ICD-11: LB16 - Hirschsprung disease Epidemiology [pathologyoutlines.com]

[…] of cases are diagnosed in adulthood Sites Classic Hirschsprung disease invariably includes aganglionosis of the distal rectum and variable length of contiguous bowel Short segment, long segment, total colonic and pan-intestinal forms as defined above Pathophysiology [pathologyoutlines.com]

A lack of enteric nerves prevents stool from being moved through the intestine, leading to severe constipation and intestinal blockage. [medlineplus.gov]

Hirschsprung-associated enterocolitis: pathogenesis, treatment and prevention. Pediatr Surg Int. 2013;29:873-881. https://www.ncbi.nlm.nih.gov/pubmed/23913261 Teitelbaum DH, Coran AG. Primary pull-through for Hirschsprung’s disease. [rarediseases.org]

Although the majority of patients reported a good quality of life, this can result from adaptations to certain disease states in addition to development of alternative strategies by patients and parents that are aimed at preventing disease-associated [bmcsurg.biomedcentral.com]