We hereby present a 70-year-old male Ethiopian farmer who presented with clinical manifestations suggestive of acute large bowel obstruction, which had persisted for 3 days. Over the past 3 years, he has experienced three similar recurring episodes, which were alleviated by decompression using a rectal tube. Upon initial examination, the patient displayed signs of cardiopulmonary distress, although no indications of peritonitis were observed. Further evaluation through plain abdominal and chest X-rays revealed findings consistent with sigmoid volvulus, as well as mediastinal shift, elevated diaphragm, and a right-positioned heart. Consequently, a sigmoid resection and an end colostomy were done. The patient showed improvement and was discharged from the hospital on the 14th day following the surgery. It is atypical for an individual to present with acute sigmoid volvulus accompanied by a mediastinal shift resulting from mass action on the hemidiaphragm. Therefore, it may be imperative to involve a pulmonologist in managing this rare situation. By ensuring that the surgical team is well-informed in such circumstances, patients can receive enhanced care and treatment.

Primary hepatic paraganglioma (PGL) is a rare neuroendocrine tumor characterized by clinical manifestations including paroxysmal hypertension, palpitation, abdominal pain and constipation. In the present study, the case of a 21-year-old woman with pathologically confirmed hepatic PGL with megacolon following surgery is reported. The patient initially visited Beijing Tiantan Hospital (Beijing, China) for hypoferric anemia. A triple-phase CT scan of the whole abdomen showed a large hypodense mass with a solid periphery and strong arterial enhancement of the peripheral solid portion of the liver. The sigmoid colon and rectum were obviously distended, filled with gas and intestinal contents. The patient was preoperatively diagnosed with iron deficiency anemia, liver injury and megacolon and then underwent partial hepatectomy, total colectomy and enterostomy. Microscopically, the liver cells exhibited an irregular zellballen pattern. In addition, immunohistochemical staining revealed that liver cells were positive for CD56, chromogranin A, vimentin, S-100, melan-A and neuron-specific enolase. Therefore, the diagnosis of primary PGL of the liver was confirmed. These findings suggested that primary hepatic PGL should not be excluded when megacolon occurs and comprehensive imaging evaluation is of great importance for its diagnosis.

OBJECTIVE: To summarize the experience of surgical treatment of children diagnosed with Currarino syndrome, with an emphasis on the selection of an optimal operative approach.
METHODS: The clinical materials of patients diagnosed with Currarino syndrome were recorded. Special attention was given to the operative management, particularly the different routes for operation. The type of ARM was the critical point. The Rintala score was used for the evaluation of bowel function.
RESULTS: The medical records of 26 patients were reviewed. Seven were male, and 19 were female, with a mean age of 19.38 ± 13.80 months. The standard posterior sagittal approach (SPS) group included three perineal fistulae, one anal stenosis, one retraction of the rectum after anoplasty for vestibular fistula, one ARM with no fistula, one rectourethral fistula, and one cloaca. In the limited posterior sagittal approach (LPS) group, there were 13 perineal fistulae, one displacement of the rectum, and one retraction of the rectum after anoplasty for the vestibular fistula. In addition, the transanal approach (TA) and anterior sagittal approach (AS) were also used. The mean follow-up time was 39.48 ± 26.84 m. The Rintala score was 16.74 ± 2.93.
CONCLUSIONS: For a perineal fistula, SPS or LPS should be used to reach anoplasty and remove the presacral mass. For a vestibular fistula, the AS or LPS should be chosen. For anal stenosis, SPS or LPS should be used.

Human disorders of the enteric nervous system (ENS), e.g., Hirschsprung\'s disease, are rarely associated with major central nervous system involvement. We describe two families each segregating a different homozygous truncating variant in KIF26A with a unique constellation of severe megacolon that resembles Hirschsprung\'s disease but lacks aganglionosis as well as brain malformations that range from severe to mild. The intestinal phenotype bears a striking resemblance to that observed in Kif26a-/- mice where KIF26A deficiency was found to cause abnormal GDNF-Ret signaling resulting in failure to establish normal neuronal networks despite myenteric neuronal hyperplasia. Very recently, a range of brain developmental phenotypes were described in patients and mice with KIF26A deficiency and were found to result from abnormal radial migration and increased apoptosis. Our report, therefore, reveals a recognizable autosomal-recessive human KIF26A deficiency phenotype characterized by severe ENS dysfunction and a range of brain malformations.

Anal canal duplication is a rare gastrointestinal malformation characterized by extra anal orifices at 6 o\'clock in the lithotomy position. To date, there have been only 110 reported cases. The purpose of this study is to contribute two infant cases, one of which is associated with anorectal stenosis, which has never been described.

This study presents the routine prosection findings of a 73-year-old male cadaver, with the cause of death reported to be hypertension and respiratory failure. Deep thorax and abdomen dissection exposed profound external and internal anatomical abnormalities. Externally, the body exhibited the following: pectus excavatum; short-limbed dwarfism; and abnormalities of the head, face, and external genitalia. Most of these findings suggest that the donor had Robinow syndrome, a rare genetic disorder involving developmental delay and skeletal abnormalities akin to those found in this cadaver. The internal gross anatomical findings included the following: megacolon; hiatal hernia; bilateral inguinal hernias; laterally displaced right kidney with a fibrous adhesion extending from the inferior pole of the kidney to the inguinal canal; atypical branching of the abdominal aorta; superiorly displaced diaphragm; pulmonary hypoplasia; heart right of midline; and curved esophagus. Although determining the exact etiology of megacolon is difficult in a cadaveric specimen, it is important to investigate the physiological changes associated with it. Therefore, the aim of this study was to investigate the space-occupying pathology of megacolon and to discuss a potential connection between megacolon and Robinow syndrome.

UNASSIGNED: To explore the treatments and short-term effects of different types of adult Hirschsprung\'s disease.
UNASSIGNED: 89 patients treated in Shanghai Changhai Hospital were retrospectively analyzed. According to the patient\'s medical history, clinical manifestations, auxiliary examination and postoperative pathological results, the patients were divided into adult congenital megacolon, adult idiopathic megacolon, ganglion cell deficiency (types I and II), toxic megacolon and iatrogenic megacolon, The Treatment methods and short-term prognosis of patients in each group were summarized.
UNASSIGNED: 41 cases of Hirschsprung\'s disease in adults and low anterior resection or pull-out low anterior resection was performed, and 35 patients with idiopathic Megacolon were treated with one-stage subtotal colon resection under the condition of adequate preoperative preparation. Some patients admitted for emergency intestinal obstruction received conservative treatment first or underwent elective surgery after colonoscopic decompression was improved; two patients with ganglion cell deficiency subtotal colectomy were performed to remove the dilated proximal bowel segment and the narrow distal bowel segment; three patients with toxic Hirschsprung\'s disease underwent colostomy in mild cases, while subtotal colorectal resection was required in severe cases; Iatrogenic megacolon was diagnosed in eight cases and the optimum operation should be selected according to the specific conditions of patients.
UNASSIGNED: Adult Hirschsprung\'s diseases were divided into adult congenital hirschsprung\'s disease, idiopathic Hirschsprung\'s disease, ganglion cell deficiency, toxic hirschsprung\'s disease, and iatrogenic Hirschsprung\'s disease. Different types of surgical treatments for Hirschsprung\'s disease in adults should be selected according to the specific diagnosis. All patients with adult Hirschsprung\'s diseases have good short-term outcomes after surgical treatment.

Most cases of Hirschsprung disease (HD) cases are known in newborns or infants. Nevertheless, some cases with mild symptoms are not identified until acute presentations, such as bowel obstruction present in adolescence or adulthood. We reported a 25-year-old male with a history of chronic constipation from childhood presenting with bowel obstruction due to HD. As an emergency operation, the Hartmann procedure was performed to overcome the obstruction. The histological result showed an aganglionic segment, confirming HD. We plan a definitive Duhamel endorectal pull-through surgery three to six months in the future. Adult HD is uncommon, and clinicians should be aware when patients with histories of chronic constipation from a young age present with intestinal obstruction.

A 92-year-old male presented from an outside hospital for treatment of a chronic obstructive pulmonary disease exacerbation (COPD) and subsequently developed worsening abdominal distention with pain during the course of his hospitalization. He was found to have a high-grade large-bowel obstruction with a dilated colon of 20 cm measuring upward. The patient ultimately underwent a hemicolectomy to prevent bowel ischemia and reformation of another volvulus. We present this case to elucidate the need for vigilant monitoring in patients with chronic bowel obstruction due to lack of typical symptoms, to demonstrate a successful management approach, and to exhibit an extreme example of the resulting megacolon.

UNASSIGNED: Chronic idiopathic megacolon is a rare condition characterized by an irreversible distension of the colon in the absence of organic disease. The pathogenesis of this condition is still unclear and the data in literatures are not consistent.
METHODS: We report a case of an 87-years-old woman affected by bowel perforation in chronic idiopathic megacolon. The patient underwent an emergency subtotal colectomy with terminal ileostomy. The postoperative was uneventful. At the histopathological examination, no organic cause of megacolon was found, so a diagnosis of idiopathic megacolon was done.
UNASSIGNED: Idiopathic megacolon is difficult to diagnose due to the lack of specific clinical manifestations and pathological features. If not carefully investigated, can lead to severe complications such as perforation of the dilated bowel and subsequent peritonitis and sepsis, metabolic and electrolyte abnormalities. The protocols for management of IMC remains controversial. To achieve a good long-term outcome, early intervention is recommended.
CONCLUSIONS: Early diagnosis of idiopathic megacolon is needed to perform the best therapeutic strategy and prevent complications, but further studies are needed.