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.

BACKGROUND: Dominant gamma-smooth muscle actin gene (ACTG2) variants cause clinically diverse forms of visceral myopathy. Many patients undergo intestinal resection or biopsy before identification of their genetic defect. The pathology of ACTG2-variant visceral myopathy has not been evaluated systematically.
METHODS: Glass slides, ultrastructural images, molecular genetic reports, and clinical records from 16 patients with pathogenic (15) or likely pathogenic (1) ACTG2 variants were reviewed and compared with surgical specimens from controls (no evidence of a primary myopathy or pseudo-obstruction due to Hirschsprung disease) and published descriptions.
RESULTS: The variable clinical manifestations in our cohort matched those in the literature. Only non-specific light and electron microscopic findings observed in non-myopathic controls were encountered in 13 of 16 patients. The remaining 3 patients harbored hyalinized cytoplasmic inclusions in smooth muscle cells and 1 of them had polyglucosan bodies in the muscularis propria.
CONCLUSIONS: Apart from hyalinized inclusions, which were only observed in 3/16 patients, intestinal pathology in the majority of patients with ACTG2 variants is not indicative of an underlying visceral myopathy. Molecular testing should be considered even when no diagnostic intestinal pathology is identified.

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.

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.

A 59-year-old woman presented to our hospital with a 6-month history of nausea, weight loss, and abdominal distension. Physical examination revealed abdominal distension without tenderness, and edema, numbness, and multiple peripheral neuropathy in the limbs. Blood test results showed anemia, hypoproteinemia, and hypoalbuminemia. Immunoelectrophoresis detected kappa-type Bence-Jones protein in both the serum and urine. Bone marrow examination did not reveal an increase of plasma cells. Computed tomography showed intestinal distension and retention of intestinal contents. No obstructive intestinal lesions were observed. Lower gastrointestinal endoscopy showed a decrease in the vascular visibility of the rectal mucosa. Histological findings showed amyloid deposition, which was positive for amyloid light-chain (AL) κ. Thus, she was diagnosed with chronic intestinal pseudo-obstruction (CIPO) due to gastrointestinal and neurological involvement of AL amyloidosis. Her abdominal symptoms were gradually improved by the insertion of an ileus tube and medication. Although we recommended chemotherapy for stopping her disease progression, she did not want to receive it. She died 1 year later because of her pneumonia. We should keep in mind that amyloidosis is an important cause of CIPO. Histopathological examination by endoscopic biopsy is required for exact diagnosis and appropriate treatment for CIPO due to amyloidosis.

Systemic sclerosis (SSc) is a chronic systemic disease characterized by microvasculopathy, autoantibodies, and extensive fibrosis. Intestinal involvement is frequent in SSc and represents a significant cause of morbidity. The pathogenesis of intestinal involvement includes vascular damage, nerve dysfunction, smooth muscle atrophy, and fibrosis, causing hypomotility, which leads to small intestinal bacterial overgrowth (SIBO), malabsorption, malnutrition, diarrhea, pseudo-obstruction, constipation, pneumatosis intestinalis, and fecal incontinence. Manifestations are often troublesome and reduce quality of life and life expectancy. Assessment of intestinal involvement includes screening for small intestine hypomotility, malnutrition, SIBO, and anorectal dysfunction. Current management of intestinal manifestations is largely inadequate. Patients with diarrhea are managed with low-fat diet, medium-chain triglycerides, avoidance of lactulose and fructose, and control of bacterial overgrowth with antibiotics for SIBO. In diarrhea/malabsorption, bile acid sequestrant and pancreatic enzyme supplementation may help, and nutritional support is needed. General measures are applied for constipation, and intestine rest plus antibiotics for pseudo-obstruction. Fecal incontinence is managed with measures for associated SIBO, or constipation, and with behavioral therapies. Pneumatosis intestinalis is usually an incidental finding that does not require any specific treatment. Immunomoduation should be considered early in intestinal involvement. Multidisciplinary approach of intestinal manifestations in SSc by gastroenterologists and rheumatologists is required for optimum management.

OBJECTIVE: To critically review the literature addressing the definition, epidemiology, aetiology and pathophysiology of acute colonic pseudo-obstruction (ACPO).
METHODS: A systematic search was performed to identify articles investigating the aetiology and pathophysiology of ACPO. A narrative synthesis of the evidence was undertaken.
RESULTS: No consistent approach to the definition or reporting of ACPO has been developed, which has led to overlapping investigation with other conditions. A vast array of risk factors has been identified, supporting a multifactorial aetiology. The pathophysiological mechanisms remain unclear, but are likely related to altered autonomic regulation of colonic motility, in the setting of other predisposing factors.
CONCLUSIONS: Future research should aim to establish a clear and consistent definition of ACPO, and elucidate the pathophysiological mechanisms leading to altered colonic function. An improved understanding of the aetiology of ACPO may facilitate the development of targeted strategies for its prevention and treatment.

BACKGROUND: Burn produces complex gastrointestinal (GI) responses. Treatment, including large volume fluid resuscitation and opioid analgesia, may exacerbate GI dysfunction. Complications include constipation and opioid-induced bowel dysfunction (OBD), acute colonic pseudo-obstruction (ACPO), bacterial translocation and sepsis, and abdominal compartment syndrome (ACS). Contamination of perineal burns contributes to delayed healing, skin graft failure and sepsis and may impact upon morbidity and mortality. The authors carried out a literature review on management of the lower GI system in burn. This study aimed to explain: current prevention and treatment modalities; drawbacks and complications associated with available treatments, and to provide direction for development of best practice guidelines. ACS is associated with high mortality and should be treated with careful fluid resuscitation and diuresis, to minimise and remove oedema.
METHODS: A comprehensive search of English language literature was performed on PubMed, Medline and Embase. Both MeSH and keywords searches were used.
RESULTS: Evidence available on the management of lower gastrointestinal system in burn is summarised. Levels of evidence available are generally low (level III-IV).
CONCLUSIONS: Structured, graded interventions are required for prevention and treatment of constipation and OBD. Correction of electrolyte imbalance, adequate enteral intake and mobilisation are pre-requisites. Laxatives should be used according to World Gastroenterology Organisation recommendations. Resistant constipation may respond to changes in medication, but ACPO should be suspected and treated when present. Other complications, such as bacterial translocation and ACS are common in major burns. There is evidence that selective digestive tract decontamination reduces mortality and infectious episodes in major burns. ACS is associated with high mortality and should be treated with careful fluid resuscitation and diuresis. Surgery is reserved for non-responsive and severe cases. Perineal burns present challenges in wound and bowel management. Faecal management systems and negative pressure wound therapy (NPWT) may improve wound control and hygiene, but diversion colostomy will still be beneficial in some cases. There is a clear need for rigorous studies to guide practice more effectively in these challenging conditions.

Lymphocytic intestinal leiomyositis is a rare entity, which causes chronic intestinal pseudo-obstruction (CIPO) in children. We present the first case of a boy who had pure red cell anemia 1 year before onset. Prolonged ileus developed after gastroenteritis and the patient was diagnosed using a biopsy of the intestinal wall. Findings from the present case indicate that there are three important factors for accurate diagnosis: history of enteritis, positive serum smooth muscle antibody, and lymphocyte infiltration with muscle destruction in the muscularis propria in the intestinal wall. Earlier diagnosis and induction of immunosuppressive therapy may be essential for a better outcome.