Duchenne muscular dystrophy is a progressive muscle wasting disease caused by pathogenic variants in DMD. Gastrointestinal involvement is increasingly recognised in older patients and can manifest as life-threatening bowel dysmotility. We describe a series of adults with Duchenne muscular dystrophy who developed either severe colonic pseudo-obstruction or sigmoid volvulus requiring urgent assessment and intervention. The presentations varied in their clinical picture and outcomes, but together highlight the complexity of managing gastrointestinal complications in this cohort of patients. Key considerations include pre-existing cardiorespiratory compromise and the increased risk associated with surgery and general anaesthesia. We also outline a role for home parenteral nutrition in the long-term management of associated bowel dysmotility.

Pitt-Hopkins syndrome (PTHS) is a rare, neurodevelopmental genetic disorder caused by mutations in the TCF4 gene. This gene encodes a ubiquitous, class I, basic helix-loop-helix factor, which is implicated in various developmental and regulatory processes. Predominant clinical manifestations of PTHS include facial dysmorphisms, intellectual disability, absence of expressive language, epilepsy, as well as visual and musculoskeletal impairments. Gastrointestinal (GI) complications, such as chronic intestinal pseudo-obstruction, gastroparesis with delayed bowel transit, chronic constipation culminating in failure to thrive, and gastroesophageal reflux disease (GERD), are also prevalent in these patients. The early identification of pain etiology in PTHS patients poses a significant clinical challenge. This report presents two cases of PTHS patients suffering from gastrointestinal dysmotility, evaluated at our Pediatrics Clinic at the \"Microcitemico\" Hospital. A review of existing literature was conducted via the PubMed database to elucidate the current understanding of the GI phenotype in PTHS. Twenty articles were deemed most relevant and selected for this purpose. In both patients, severe constipation and abdominal distension resulted in persistent agitation and inconsolable crying. These distress symptoms were completely ameliorated following prompt pharmacological intervention.

A reduced and limited number of myenteric ganglia and low acetylcholinesterase activity in the lamina propria characterizes an unusual form of intestinal innervation disorder known as acquired or adult-onset hypoganglionosis. Only a few cases have been observed in adults, while the majority are diagnosed in infancy or youth. We report a rare case of colonic hypoganglionosis that presented as sigmoid volvulus in a 25-year-old female brought in to the ER. She underwent endoscopic decompression but developed a massive sigmoid volvulus with proximal colon dilatation. It was decided to do a total colectomy with an end ileostomy. The diagnosis was confirmed by histopathology, which revealed acquired hypoganglionosis. In order to prevent delayed or emergency presentation and the development of a stoma, the diagnosis of hypoganglionosis must be confirmed with full-thickness biopsies from all affected parts of the large bowel. Hypoganglionosis is rarely present, so young patients with a history of chronic constipation must be treated with a high index of suspicion.

Anti-N-methyl-D-aspartate (anti-NMDA) receptor encephalitis is an autoimmune disorder affecting the N-methyl-D-aspartate receptors in the central and peripheral nervous systems. Gastrointestinal (GI) complications are rarely manifested in this disease. Autoimmune dysregulation of the GI tract is considered a potential cause. We present a challenging case of a 38-year-old male with a history of newly diagnosed epilepsy. He was admitted for three weeks of confusion, hallucinations, and bizarre behavior, and was later diagnosed with anti-NMDA encephalitis from a cerebrospinal fluid (CSF) immunological study. He was treated with a five days course of intravenous immunoglobulin (IVIG) and high-dose steroids. His course was further complicated with GI obstruction and upper GI bleed. His laboratory workup showed lactic acidosis and there was a concern for ischemic bowel injury. Computed tomography (CT) of the abdomen with contrast showed diffuse moderate to pronounced dilated small intestine swirling the mesenteric vessels, concerning for intestinal vascular compromise. The patient also became tachypneic and hypoxic, requiring 6 L of oxygen with a venti-mask. CT of the chest, abdomen, and pelvis with contrast revealed saddle pulmonary embolism (PE) extending to the right and left pulmonary arteries with right heart strain. He underwent emergent explorative laparotomy and emergent catheter-directed thrombectomy. Neither necrotic bowel nor any evidence of perforation or volvulus was noted during the laparotomy; however, the small bowel and the colon were reported to be significantly dilated, hyperemic, and engorged with blood without any evidence of ischemic bowel. He had a complicated 29-day admission course and recovered functional capacity to be safely discharged to a skilled nursing facility for further care. Physicians should keep in mind the gut-brain axis and autonomic effects on gut receptors of any patient presenting with psychosis and seizure disorder to provide timely care and improve morbidity and mortality in this patient population.

OBJECTIVE: This work aimed to report the demographic and clinical characteristics of two new cases with non-paraneoplastic anti-Hu-associated gut motility impairment, and perform a thorough revision covering anti-Hu-associated paraneoplastic (PGID) and non-paraneoplastic (nPGID) gastrointestinal dysmotility.
BACKGROUND: Several case series have clearly established a relationship between certain type of cancers, the development of circulating anti-Hu antibodies, and the concomitant usually severe gastrointestinal dysmotility; in contrast, a few studies focused on anti-Hu-associated nPGID.
METHODS: We searched for studies regarding anti-Hu-associated gastrointestinal manifestations and extracted data concerning clinical characteristics of patients, including specific demographic, oncological, neurological, gastrointestinal, histological, and treatment response features.
RESULTS: Forty-nine articles with a total of 59 cases of anti-Hu-associated gastrointestinal dysmotility were analyzed. The patients\' age at symptom onset significantly differed between PGID and nPGID (median 61 vs 31 years, p < 0.001). Most cancers (95%) in PGID were detected within 24 months from the beginning of gastrointestinal symptoms. The impairment of gastrointestinal motility was generalized (i.e., involving the whole gut) in 59.3% of patients, with no significant differences between PGID vs nPGID group. nPGID patients showed a better response to immunomodulatory/immunosuppressive treatment and a longer life expectancy.
CONCLUSIONS: Anti-Hu-associated gastrointestinal dysmotility covers a wide clinical spectrum. Patients with otherwise unexplained gastrointestinal dysmotility, especially when associated with other neurological symptoms, should be tested for anti-Hu antibodies regardless age of onset and disease duration. Compared to PGID, nPGID occurs in younger patients with a long duration of disease.

Acute colonic pseudo-obstruction (ACPO) or Ogilvie\'s syndrome occurs in 0.22%-7% of patients undergoing surgery, with a mortality of up to 46%. ACPO increased median hospital days versus control in spinal surgery (14 vs. 6 days; P < 0.001). If defined as postoperative ileus, the incidence was 7%-13.4%. Postoperative ileus is associated with 2.9 additional hospital days and an $80,000 increase in cost per patient. We present a case of ACPO in an adult patient undergoing spinal fusion for correction of scoliosis and review the available literature to outline clinical characteristics and surgical outcomes.
The patient was a 31-year-old woman with untreated advanced scoliosis with no history of neurologic issues. T2-L3 spinal instrumentation and fusion was completed. Plain abdominal radiography showed of dilated cecum 11 cm and the department of general surgery was consulted. Neostigmine administration was planned after conservative treatment failure after transfer to the intensive care unit. The patient was discharged home with no recurrence >60 days. Thirty cases were found in our literature review using PubMed and Embase databases and summarized.
Of 30 cases reviewed, only 3 cases of ACPO were specific to patients undergoing spinal fusion for scoliosis. According to the literature, 20% of patients had resolution with conservative treatment, 40% with neostigmine, and 30% with surgical intervention. Other noninvasive treatments may have similar efficacy in preventing complications leading to surgical invention. Sixty clinical trials and 9 systematic reviews were summarized with an updated management algorithm.

Chronic small bowel pseudo-obstruction is rare, and the disease process is poorly understood. Its clinical picture and radiographic findings can resemble mechanical small bowel obstruction and may lead to unnecessary surgery. We report a case of a 68-year-old man who presented acutely with severe abdominal distension and pain after a recent laparoscopic adhesiolysis. His abdominal CT scan revealed grossly distended small bowel with pneumatosis intestinalis and free intraperitoneal air, which led to an exploratory laparotomy. He had a history of having undergone numerous radiological and endoscopic investigations and multiple laparotomies/laparoscopic procedures but without a definitive diagnosis. Subsequent episodes of small bowel pseudo-obstruction occurred, and he developed intestinal failure. His care required the input of multiple healthcare professionals. He was ultimately referred to the National Intestinal Failure Unit for further assessment and management.

Acute colonic pseudo-obstruction or Ogilvie\'s syndrome (OS) is a rare form of postsurgical or posttraumatic complication. OS rarely occurs in the postoperative course of gynecologic and obstetric patients and is difficult to diagnose.
We present the case of an 83-years-old patient with carcinosarcoma of the uterus who developed OS with non-obstructive dilation of the right hemicolon and intraabdominal compression after total abdominal hysterectomy, omentectomy, and lymphadenectomy. Laparotomy with colonic decompression and abdominal dressing was performed. Subsequently, the patient developed pneumonia and peritonitis and died due to septic shock.
We identified 49 case reports and 10 case series describing 17 gynecologic (cervical cancer, n = 2; carcinosarcoma of the uterus, n = 1; benign gynecologic condition, n = 14) and 76 obstetric patients (cesarean section, n = 66; OS during pregnancy or after vaginal delivery, n = 10). Outcome data were available for 59 patients. First-line treatment was conservative in 22/59 (37%) cases, laparotomy with decompression or colon resection was performed in 20/59 (34%) cases, endoscopic decompression in 12/59 (20%) cases, and i.v. neostigmine in 4/59 (7%) cases. Resolution was achieved in 22/59 (37%) of patients. The most common second-line treatment was right hemicolectomy. Adverse events grade 3 and 4 were observed in 8/59 and 31/59 patients (together 66%), respectively, mortality was 3/59 (5%).
OS is a rare postoperative complication of gynecologic and obstetric patients with a good prognosis, but a high morbidity. Pregnancy seems to be a predisposing factor for OS. Conservative treatment is a successful first-line approach.

Amyloidosis is a syndrome involving amyloid protein deposition in various organs, resulting in organ dysfunction. Symptoms of gastrointestinal amyloidosis are usually nonspecific, such as diarrhea and body weight loss. We, here, report a patient who presented to the hospital with simultaneous hematemesis, melena, and intestinal pseudo-obstruction, leading to a diagnosis of primary gastrointestinal amyloidosis based on computed tomography (CT) and endoscopic findings. CT showed diffuse wall thickening from the duodenum to the jejunum, jejunal dilation, and fluid accumulation throughout the gastrointestinal tract. Upper gastrointestinal endoscopy revealed duodenal mucosal edema, jejunal dilation, and small hemorrhages from jejunal mucosal erosion. The definite diagnosis was done based on biopsy results. This report describes the early diagnosis of gastrointestinal amyloidosis based on CT and endoscopy findings.

Diseases due to mutations of polymerase γ (POLG) usually present with progressive external ophthalmoplegia. However, a few studies have been reported on POLG1 mutations with the mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype. All cases with POLG1 mutations mimicking MNGIE have never shown leukoencephalopathy on brain magnetic resonance imaging (MRI) or demyelinating polyneuropathy. We present a 26-year-old male with gait disturbance, recurrent bowel obstruction, peripheral neuropathy, ophthalmoplegia or ptosis, which represented MNGIE phenotype. Though he displayed demyelinating peripheral neuropathy or leukoencephalopathy on brain MRI, genetic analysis revealed heterozygous mutation in POLG1 gene. We report for the first time two newly characteristics in our patient with heterozygous POLG1 mutations with the MNGIE-like phenotype: leukoencephalopathy and demyelinating polyneuropathy.