Mitochondrial neurogastrointestinal encephalopathy (MNGIE) is an autosomal recessive disorder characterized by gastrointestinal dysmotility, cachexia, ptosis, peripheral neuropathy and leukoencephalopathy. The diagnosis is often not made until 5-10 years after the onset of symptoms. MNGIE is caused by mutations in thymidine phosphorylase gene TYMP. Here, we present a 19-year-old boy with MNGIE who had a chronic intestinal pseudo-obstruction, and we describe his family history. Genetic analysis revealed a novel homozygous c.765+1G>C intronic mutation which is expected to disrupt splicing of TYMP in the patient. Family screening revealed that the brother was also affected and the mother was a carrier. MNGIE should be considered and genetic testing instigated if individuals with cachexia have neuromuscular complaints or symptoms of chronic intestinal pseudo-obstruction.
This systematic review explores the association between herpes zoster (HZ) infection and Ogilvie's syndrome (acute colonic pseudo-obstruction), evaluating how varicella-zoster virus (VZV) reactivation may contribute to autonomic dysfunction leading to intestinal obstruction. A comprehensive search was conducted in PubMed, Scopus, and Cochrane Library databases up to October 2024, in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. Eligible studies included case reports, clinical images, and letters reporting Ogilvie's syndrome secondary to HZ or VZV infection.
A 73-year-old man presented with nausea, abdominal discomfort, and distention persisting for the past five days. He had previously been diagnosed with stage III peripheral CD4+ T cell lymphoma and had initiated chemotherapy comprising vincristine two weeks prior to presentation. An evaluation revealed diffuse colon distention and pneumatosis intestinalis without mechanical obstruction, consistent with acute colonic pseudo-obstruction.
Objectives: Colonic manometry catheter placement can be performed by colonoscopy or fluoroscopy. Our objective was to compare outcomes of colonoscopic to fluoroscopic catheter placement in children based on the extent of colon study and the likelihood of catheter displacement.
Methods: Colonic manometry studies performed between May 2015 and May 2022 were reviewed.
Chronic intestinal pseudo-obstruction (CIPO) is a rare condition affecting the motility of the lower gastrointestinal tract, while achalasia is an uncommon esophageal motility disorder. The coexistence of both conditions is extremely rare. We present the case of a patient who had both pathologies, admitted for dysphagia and oral intolerance, the symptoms finally resolved by performing a POEM.
* In the experiment, urine was either aspirated from the bladder or leaked through the ureter into the peritoneum of seven minipigs, with samples taken at 4 and 10 hours for analysis of inflammatory response.
* Results show that while urine in the peritoneum causes bowel distention, there was no significant inflammatory response in the visceral peritoneum within the 10-hour observation period, leading to questions about other mechanisms affecting bowel distention.
