Total colonic aganglionosis, also called total colonic Hirschsprung\'s disease, is a known congenital disorder caused by the migration of abnormal embryonic neuroblasts. RET, NRG1, and L1CAM genes are reported as pathological gene variants associated with the incidence of different variants of Hirschsprung\'s disease. Major clinical presentations are well documented as inefficiency to pass stools, vomiting, fever, persistent crying, and other features of intestinal obstruction. We present here the case of a two-day-old female infant of Indian origin and its diagnostic, clinical, and case management data.

Adult Hirschsprung\'s disease (AHD) is a rare condition characterized by a shortened aganglionic segment in the distal colon or rectum that is diagnosed after the age of 10. Diagnostic challenges stem from its rarity, nonspecific presentation, and often delayed consideration following emergent interventions. This report details the case of a 33-year-old male who presented with chronic constipation and abdominal pain, leading to a severe bowel obstruction attributed to self-reported Hirschsprung\'s disease (HD). Clinical, radiological, and historical aspects were suggestive of AHD, but definitive diagnostic procedures, including manometry and biopsy, were hindered by the patient\'s deteriorating condition. Exploratory laparotomy unveiled a secondary small bowel obstruction due to volvulus, necessitating immediate intervention, resulting in the removal of 4000 cc of fecal material. A comprehensive resection involving mid-to-distal transverse colon, left colon, sigmoid colon, and proximal rectum with the creation of Hartman\'s colostomy was performed due to the patient\'s worsening clinical status. We present a case of possible ultrashort-segment Hirschsprung\'s disease (USHD) and sketch a classic presentation of AHD. This endeavor aims to enhance awareness and consideration of AHD and/or USHD within the spectrum of potential diagnoses for chronic constipation when relevant and demonstrate the effectiveness of surgical intervention in this population.

Hirschsprung\'s disease (HD) is a congenital gastrointestinal condition characterized by the lack of ganglion cells within the submucosal and myenteric nervous plexuses in the large intestine. This results in a dysfunctional segment of the large colon, resulting in symptoms such as failure to pass meconium, constipation, and dilated loops of the bowel. The vast majority of patients are diagnosed during the neonatal period, but a handful can be diagnosed later into childhood and adolescence. A rare subset is diagnosed during adulthood, in which the section of the aganglionic colon is minimal yet symptomatic. We report the case of a 54-year-old female presenting with dilated loops of bowel and a remote history of severe constipation, recurrent bowel obstructions, previous left hemicolectomy, and an improvement of symptoms following the procedure. Upon further workup, she was diagnosed with HD, raising the question of whether there should be increased testing for this condition in adults. This case can serve as an example of the need for a more in-depth workup of severe constipation in adults, as the finding for HD in adults is rare but still possible.

Anorectal malformation (ARM) and Hirschsprungs disease (HSCR) are frequently associated with other congenital malformations, but rarely with one another. We describe the case of a child with intermediate anorectal malformation who underwent ARM correction. This child experienced recurrent postoperative symptoms, including intestinal obstruction, nutrition intolerance, and weight loss. The child was diagnosed with Hirschsprung\'s disease by colon barium contrast and pathological findings from a rectal biopsy, and subsequently underwent pull -through procedure after conservative treatment failed. After six months of postoperative follow-up, the patient still experiences occasional episodes of enteritis, but the symptoms are substantially less severe than they were before surgery, and the patient\'s weight is slowly increasing. We described a case of a child who had ARM combined with HSCR. Although the association between ARM and HSCR is uncommon, severe constipation or enteritis following complete correction of ARM in the absence of anal stricture should prompt consideration for HSCR. Before the second stage of ARM surgery, pay close attention to the barium enema examination, as an abnormal shape may indicate the presence of HSCR.

Hirschsprung\'s disease is a rare disease characterized by the complete absence of ganglionic cells in the colon, thereby causing loss of peristalsis movement of the bowel. Most cases are diagnosed before the age of one. Here, we present a case of a newborn baby boy who was not feeding well and then developed a distended abdomen and began bilious vomiting. Blood mucoid stools were also observed. The diagnosis of Hirschsprung\'s disease was confirmed through a full-thickness rectal biopsy, and the Duhamel surgical procedure was performed as a course of treatment all within the first few days of birth. No complications were reported, and the baby was safely discharged after seven days. This case demonstrates the importance of timely treatment after prompt diagnosis due to the early recognition of the severe symptoms. Even though this disease is rare, pediatricians should be trained to recognize and treat the child to prevent further detrimental outcomes.

A 5-month-old patient presented with grayish-blue iris bilaterally, skin and mucosal pigmentation loss, Hirschsprung\'s disease, full-blown growth retardation, and sensorineural deafness. The patient\'s whole exon gene sequencing revealed a spontaneous heterozygous code-shifting mutation in the SOX10 gene: c.803del:p.K268Sfs*18. The parents of the child were wild-type, and the site of the mutation is novel.

RET gene variances confer susceptibility to Hirschsprung\'s disease (HSCR) with pathogenetic mutations being identified in half of familial cases. This investigation of familial HSCR was aimed to clarify the relationship between genetic mutations and clinical phenotype using next-generation sequencing. A novel c2313C > G(D771E) RET mutation was identified in all three affected family members. The mutation involved the kinase domain, which is believe to impair RET activity and intestinal function. A second RET mutation, c1465G > A(D489N), was found only in the extensive aganglionosis case. We conclude that the novel c2313C > A(D771E) mutation in RET may be pathogenic for HSCR, while the c1465C > G(D489N) mutation may be related to phenotype severity.

UNASSIGNED: The argon plasma coagulation is a technique used for noncontact thermal coagulation of tissue. Hyperplastic polyps are the most common non-neoplastic polyps in the colon.
UNASSIGNED: We presented a 3-year-old girl with a chief complaint of bloody stool and rectal tenesmus that began 5 days ago. She was previously being treated because of a history of chronic constipation. She underwent a one stage surgery for Hirschsprung\'s disease, after a full-thickness rectal wall biopsy was obtained and it consistent with Hirschsprung\'s disease. Three months after the surgery, the girl presented to our clinic with rectal blood loss and rectal tenesmus. Endoscopic examination of her colon demonstrated sessile and pedunculated polyps. The pedunculated polyps were removed endoscopically. Biopsies were taken from the sessile polyps. Histopathologic examination of the polypectomy specimen and the biopsies of the sessile polyps showed hyperplastic polyps. The endoscopy was repeated for the purpose of argon plasma coagulation ablation of the sessile polyps. Argon plasma coagulation caused an adequate ablation and the entire polyps were burned.
UNASSIGNED: Argon plasma coagulation is an effective and safe technique in the endoscopic management of gastrointestinal conditions.
UNASSIGNED: Further clinical trials including a comparison of argon plasma coagulation to other treatment modalities, as well as long-term follow-up after argon plasma coagulation treatment are required.

Lingual thyroglossal duct cysts can be a rare cause of feeding difficulties in infants. Here, we describe a case of an infant with vomiting and feeding difficulty diagnosed with Hirschsprung\'s disease. However, she developed an unexpected difficult airway during anesthesia induction due to an undiagnosed lingual thyroglossal duct cyst.

Tetrasomy 21 is a rare occurrence. Only 14 cases have been reported in the literature, 8 of which are partial tetrasomy cases and 6 which are complete tetrasomy cases. Of the incidences, no proband with true complete tetrasomy 21 has survived the neonatal period. We report complete mosaic tetrasomy 21 in a female infant with the typical Down syndrome phenotype, including Hirschsprung\'s disease and atrioventricular (AV) canal defect. This is in contrast to cases of partial tetrasomy 21, which often have an atypical trisomy 21 presentation and multiple nonspecific traits, including short stature, microcephaly, and developmental delays. This case demonstrates the difference in clinical presentation between the partial and complete subtype of tetrasomy 21 and provides the first postnatal clinical picture of an infant with true mosaic complete tetrasomy 21.