Mitochondrial neurogastrointestinal encephalomyopathy(MNGIE),a rare mitochondrial disorder caused by TYMP gene mutations,is characterized by severe gastrointestinal dysmotility,peripheral neuropathy,and leukodystrophy.This article summarizes the clinical data and intestinal ultrasound findings of a MNGIE case,aiming to provide insights for clinical diagnosis and treatment.
Humans ; Mitochondrial Encephalomyopathies/diagnostic imaging* ; Ultrasonography ; Intestines/diagnostic imaging* ; Male ; Female ; Intestinal Pseudo-Obstruction/diagnostic imaging* ; Ophthalmoplegia/congenital* ; Muscular Dystrophy, Oculopharyngeal

Bromadiolone, commonly known as super warfarin, is a long-acting coumarin dicoumarin rodenticide. The mechanism of bromadiolone is mainly to inhibit vitamin K1 epoxide reductase and affect the synthesis of coagulation factors Ⅱ, Ⅶ, Ⅸ and Ⅹ, which causes blood coagulation dysfunction and systemic multiple organ hemorrhage. Here, we report of a case of bromadiolone poisoning patient who had digestive tract, abdominal hemorrhage, as well as secondary paralytic ileus. After blood product transfusion and vitamin K1 supplementation, the patient was discharged after the physical condition was improved. It's suggestied that clinicians should pay attention to rare complications to prevent missed diagnosis when treating other bromadiolone poisoning.
4-Hydroxycoumarins ; Blood Coagulation Factors ; Dicumarol ; Hemorrhage ; Humans ; Intestinal Pseudo-Obstruction/chemically induced* ; Oxidoreductases ; Rodenticides ; Vitamin K 1 ; Warfarin

Intestinal failure (IF) is the critical reduction of the gut mass or its function below the minimum needed to absorb nutrients and fluids required for adequate growth in children. Severe IF requires parenteral nutrition (PN). Pediatric IF is most commonly due to congenital or neonatal intestinal diseases or malformations divided into 3 groups: 1) reduced intestinal length and consequently reduced absorptive surface, such as in short bowel syndrome (SBS) or extensive aganglionosis; 2) abnormal development of the intestinal mucosa such as congenital diseases of enterocyte development; 3) extensive motility dysfunction such as chronic intestinal pseudo-obstruction syndromes. The leading cause of IF in childhood is the SBS. In clinical practice the degree of IF may be indirectly measured by the level of PN required for normal or catch up growth. Other indicators such as serum citrulline have not proven to be highly reliable prognostic factors in children. The last decades have allowed the development of highly sophisticated nutrient solutions consisting of optimal combinations of macronutrients and micronutrients as well as guidelines, promoting PN as a safe and efficient feeding technique. However, IF that requires long-term PN may be associated with various complications including infections, growth failure, metabolic disorders, and bone disease. IF Associated Liver Disease may be a limiting factor. However, changes in the global management of IF pediatric patients, especially since the setup of intestinal rehabilitation centres did change the prognosis thus limiting “nutritional failure” which is considered as a major indication for intestinal transplantation (ITx) or combined liver-ITx.
Bone Diseases ; Child ; Citrulline ; Enterocytes ; Humans ; Intestinal Diseases ; Intestinal Mucosa ; Intestinal Pseudo-Obstruction ; Liver Diseases ; Micronutrients ; Parenteral Nutrition ; Parenteral Nutrition, Home ; Prognosis ; Rehabilitation ; Short Bowel Syndrome

Waardenburg syndrome (WS) type IV is characterized by pigmentary abnormalities, deafness and Hirschsprung's disease. This syndrome can be triggered by dysregulation of the SOX10 gene, which belongs to the SOX (SRY-related high-mobility group-box) family of genes. We discuss the first known case of a SOX10 frameshift mutation variant defined as c.895delC causing WS type IV without Hirschsprung's disease. This female patient of unrelated Kuwaiti parents, who tested negative for cystic fibrosis and Hirschsprung's disease, was born with meconium ileus and malrotation and had multiple surgical complications likely due to chronic intestinal pseudo-obstruction. These complications included small intestinal necrosis requiring resection, development of a spontaneous fistula between the duodenum and jejunum after being left in discontinuity, and short gut syndrome. This case and previously reported cases demonstrate that SOX10 gene sequencing is a consideration in WS patients without aganglionosis but with intestinal dysfunction.
Cystic Fibrosis ; Deafness ; Duodenum ; Female ; Fistula ; Frameshift Mutation ; Hirschsprung Disease ; Humans ; Ileus ; Intestinal Pseudo-Obstruction ; Jejunum ; Meconium ; Necrosis ; Parents ; Waardenburg Syndrome

BACKGROUND/AIMS: Previous studies from Korea have described chronic intestinal pseudo-obstruction (CIPO) patients with transition zone (TZ) in the colon. In this study, we evaluated the pathological characteristics and their association with long-term outcomes in Korean colonic pseudo-obstruction (CPO) patients with TZ. METHODS: We enrolled 39 CPO patients who were refractory to medical treatment and underwent colectomy between November 1989 and April 2016 (median age at symptoms onset: 45 [interquartile range, 29–57] years, males 46.2%). The TZ was defined as a colonic segment connecting a proximally dilated and distally non-dilated segment. Detailed pathologic analysis was performed. RESULTS: Among the 39 patients, 37 (94.9%) presented with TZ and 2 (5.1%) showed no definitive TZ. Median ganglion cell density in the TZ adjusted for the colonic circumference was significantly decreased compared to that in proximal dilated and distal non-dilated segments in TZ (+) patients (9.2 vs 254.3 and 150.5, P < 0.001). Among the TZ (+) patients, 6 showed additional pathologic findings including eosinophilic ganglionitis (n = 2), ulcers with combined cytomegalovirus infection (n = 2), diffuse ischemic changes (n = 1), and heterotropic myenteric plexus (n = 1). During follow-up (median, 61 months), 32 (82.1%) TZ (+) patients recovered without symptom recurrence after surgery. The presence of pathological features other than hypoganglionosis was an independent predictor of symptom recurrence after surgery (P = 0.046). CONCLUSIONS: Hypoganglionosis can be identified in the TZ of most Korean CPO patients. Detection of other pathological features in addition to TZ-associated hypoganglionosis was associated with poor post-operative outcomes.
Cell Count ; Colectomy ; Colon ; Colonic Pseudo-Obstruction ; Cytomegalovirus Infections ; Eosinophils ; Follow-Up Studies ; Ganglion Cysts ; Humans ; Intestinal Pseudo-Obstruction ; Korea ; Male ; Myenteric Plexus ; Pathology ; Recurrence ; Ulcer

The mammalian intestine contains many different cell types but is comprised of 2 main cell types: epithelial cells and smooth muscle cells. Recent in vivo and in vitro evidence has revealed that various alterations to the DNA methylation apparatus within both of these cell types can result in a variety of cellular phenotypes including modified differentiation status, apoptosis, and uncontrolled growth. Methyl groups added to cytosines in regulatory genomic regions typically act to repress associated gene transcription. Aberrant DNA methylation patterns are often found in cells with abnormal growth/differentiation patterns, including those cells involved in burdensome intestinal pathologies including inflammatory bowel diseases and intestinal pseudo-obstructions. The altered methylation patterns being observed in various cell cultures and DNA methyltransferase knockout models indicate an influential connection between DNA methylation and gastrointestinal cells' development and their response to environmental signaling. As these modified DNA methylation levels are found in a number of pathological gastrointestinal conditions, further investigations into uncovering the causative nature, and controlled regulation, of this epigenetic modification is of great interest.
Apoptosis ; Cell Culture Techniques ; Cell Differentiation ; DNA Methylation ; DNA ; Epigenomics ; Epithelial Cells ; In Vitro Techniques ; Inflammatory Bowel Diseases ; Intestinal Mucosa ; Intestinal Pseudo-Obstruction ; Intestines ; Methylation ; Muscle, Smooth ; Myocytes, Smooth Muscle ; Pathology ; Phenotype

Pediatric chronic intestinal pseudo-obstruction is a rare disorder characterized by a severe impairment of gastrointestinal motility leading to intestinal obstruction symptoms in the absence of mechanical causes. The diagnosis is usually clinical and diagnostic work is usually aimed to rule out mechanical obstruction and to identify any underlying diseases. Treatment is challenging and requires a multidisciplinary effort. In this manuscript we describe the youngest child successfully treated with the orally administrable, long-acting, reversible anti-cholinesterase drug, pyridostigmine. Like other drugs belonging to cholinesterase inhibitors, pyridostigmine enhances gut motility by increasing acetylcholine availability in the enteric nervous system and neuro-muscular junctions. Based on the direct evidence from the reported case, we reviewed the current literature on the use of pyridostigmine in severe pediatric dysmotility focusing on intestinal pseudo-obstruction. The overall data emerged from the few published studies suggest that pyridostigmine is an effective and usually well tolerated therapeutic options for patients with intestinal pseudo-obstruction. More specifically, the main results obtained by pyridostigmine included marked reduction of abdominal distension, reduced need of parenteral nutrition, and improvement of oral feeding. The present case and review on pyridostigmine pave the way for eagerly awaited future randomized controlled studies testing the efficacy of cholinesterase inhibitors in pediatric severe gut dysmotility.
Acetylcholine ; Child ; Cholinesterase Inhibitors ; Diagnosis ; Enteric Nervous System ; Female ; Gastrointestinal Motility ; Humans ; Intestinal Obstruction ; Intestinal Pseudo-Obstruction ; Parenteral Nutrition ; Pyridostigmine Bromide

The mechanism of medication-induced gastrointestinal hypomotility is primarily caused by muscarinic cholinergic antagonism. This effect may cause constipation and paralytic ileus, which may lead to fatal complications. A 51-year-old woman was admitted due to manic episode recurrence. She developed paralytic ileus under quetiapine use and treated successfully under low dose amisulpride use. The related mechanism, associated risk factors, and the rationale for medication switch are discussed.
Bipolar Disorder ; Cholinergic Antagonists ; Constipation ; Female ; Humans ; Intestinal Pseudo-Obstruction* ; Middle Aged ; Quetiapine Fumarate* ; Recurrence ; Risk Factors

Neonatal gastrointestinal mucormycosis, a rare disease with a high mortality rate, shows a rapid progressive course in premature infants with an immature immune system. We report the case of a male neonate weighing 970 g, delivered via cesarean section at 27 weeks, as one of a pair of dizygotic twins. From the 7(th) day after birth, bile was seen to drain through the orogastric tube, and paralytic ileus was noted on performing an abdominal X-ray. Thus, oral feeding was discontinued because necrotizing enterocolitis (NEC) was highly suspected. On the 9(th) day after birth, a firm mass was palpable in left upper abdominal quadrant, but no pneumatosis intestinalis was observed on performing abdominal X-ray. Small bowel intussusception was suspected on performing abdominal ultrasonography. Based on these findings, an exploratory laparotomy was performed, and although no intussusception was found intraoperatively, we performed a partial gastrectomy and hemicolectomy due to the presence of necrotic changes and perforations of the stomach and colon. Postoperatively, he was observed to have hypotension with persistence of hemorrhage at the surgical site. He died on the 11(th) day after birth. Intraoperative histopathological examination of stomach and colon showed fungal aseptate hyphae with broad branching. Gastrointestinal mucormycosis was confirmed based on findings of vascular involvement in the form of fungal hyphae and thrombosis in the transmural blood vessels. We report a case of an extremely low birth weight infant with neonatal gastrointestinal mucormycosis with an initial clinical presentation suggestive of intussusception and atypical NEC.
Bile ; Blood Vessels ; Candida ; Cesarean Section ; Colon ; Enterocolitis, Necrotizing* ; Female ; Fungi ; Gastrectomy ; Hemorrhage ; Humans ; Hyphae ; Hypotension ; Immune System ; Infant* ; Infant, Extremely Low Birth Weight ; Infant, Low Birth Weight* ; Infant, Newborn ; Infant, Premature ; Intestinal Pseudo-Obstruction ; Intussusception* ; Laparotomy ; Male ; Mortality ; Mucormycosis* ; Parturition ; Pregnancy ; Rare Diseases ; Stomach ; Thrombosis ; Twins, Dizygotic ; Ultrasonography

Paralytic ileus is a common complication in critically ill patients, and can affect all parts of the gastrointestinal tract. We report a case of paralytic ileus that improved after neostigmine administration. An 80-year-old man was transferred to the intensive care unit after a diagnosis of severe colitis due to Clostridium difficile infection while under conservative treatment for paralytic ileus . The patient's colitis resolved but the ileus did not. This prompted neostigmine administration, resulting in remarkable improvements in the abdominal physical examination and radiographic images. Bowel movements recovered, oral feeding was restarted, and the patient was transferred back to the general ward.
Aged, 80 and over ; Clostridium difficile ; Colitis ; Critical Illness* ; Diagnosis ; Gastrointestinal Tract ; Humans ; Ileus ; Intensive Care Units ; Intestinal Pseudo-Obstruction* ; Neostigmine* ; Patients' Rooms ; Physical Examination