Late Diagnosis of Hirschsprung Disease: Clinical Presentation and Long-Term Functional Outcomes.

PURPOSE: Hirschsprung Disease (HD) is typically diagnosed in the neonatal period. A small subset of patients have a prolonged course of abdominal distention and constipation prior to diagnosis. Late HD is defined as having been diagnosed at greater than or equal to one year of age. The literature is limited and offers conflicting data on the implications of a late diagnosis. We aim to investigate the presentation, operative approach, and functional outcomes of a large cohort of patients with a late HD diagnosis. METHODS: All patients with a late diagnosis of HD (after 1 year of age) at our institution between 1997 and 2021 were included. RESULTS: Twenty-eight patients were diagnosed with HD at a median age of 3.4 years. Chronic constipation, failure to thrive, and enterocolitis occurred in 100 %, 31 %, and 14 %, respectively. All patients underwent contrast enema and biopsies during their workup, identifying primarily rectosigmoid disease (n = 27) and total colonic aganglionosis (n = 1). Surgical intervention was performed in 27 patients, with 4 patients (15 %) needing a stoma (3 with plan for staged pull-through, 1 long-term stoma) and 23 patients (85 %) undergoing a single-stage pull-through. Postoperative complications included Hirschsprung-associated enterocolitis (n = 5), ostomy prolapse and revision (n = 2), abdominal distention requiring ileostomy creation (n = 2), redo pull-through (n = 2), retroperitoneal hematoma (n = 1), and cecostomy tube placement (n = 1). At a median follow-up of 5.4 years, 83 % of eligible patients achieved fecal continence with 43 % needing laxatives for persistent constipation. CONCLUSION: Recognizing a late presentation of HD requires a high index of suspicion. Patients with a late diagnosis did not experience an increased rate of permanent stoma, complications, or redo surgery compared to rates reported for the larger HD population. Similar long-term functional outcomes were achieved compared to the larger HD population. LEVEL OF EVIDENCE: IV.

Food protein-induced enterocolitis syndrome due to buckwheat: A case report.

Buckwheat is a rare causative food for food protein-induced enterocolitis syndrome (FPIES). To date, it is unknown what laboratory data patients with FPIES caused by buckwheat show. We report a 4-year-old female with FPIES caused by buckwheat and the laboratory results. Skin prick, specific IgE antibody, and basophil activation tests were negative; however, the lymphocyte stimulation test (LST) revealed a 10.2-fold increase in activation compared with the negative control. In an open-label oral food challenge (OFC) of 80 g boiled buckwheat noodles, 3 hours after ingestion, vomiting occurred four times in a 2-hour duration. Therefore, we diagnosed the patient with FPIES caused by buckwheat. Her neutrophil count, C-reactive protein, and thymus and activation-regulated chemokine were elevated after the OFC. Moreover, the patient had a positive reaction to the LST, which may theoretically be useful in diagnosing non-immunoglobulin E-mediated gastrointestinal food allergies. FPIES caused by buckwheat is rare; however, we found that the same laboratory results were observed in a comparison of FPIES cases caused by other foods.

Methicillin-resistant Staphylococcus aureus enterocolitis in a 16-month-old boy: a case report.

BACKGROUND: Methicillin-resistant Staphylococcus aureus enterocolitis is a rare disease that typically affects immunocompromised adults. Most cases of pediatric enterocolitis are caused by Gram-negative bacteria, Gram-positive Clostridiodes difficile, or viruses. This is the first published case report of a toddler with methicillin-resistant Staphylococcus aureus enterocolitis. CASE PRESENTATION: A 16-month-old non-Hispanic White boy with no past medical or psychosocial history initially presented to the emergency room with abdominal pain and emesis. Past family history was pertinent only for his father having a history of constipation. He was diagnosed with intussusception and underwent successful contrast reduction on hospital day 0. The following day, the patient had recurrent symptoms and a repeat contrast enema showed no evidence of recurrent intussusception. A computed tomography scan was obtained, which was concerning for possible recurrence with compromised bowel. He was taken to the operating room for operative reduction and underwent an ileocecetomy with primary handsewn end-to-end anastomosis. His postoperative course was complicated by an anastomotic leak on hospital day 6 necessitating reoperation and creation of an end ileostomy with mucous fistula. He received intravenous metronidazole, ceftriaxone, and ceftazidime antibiotics during his hospital course. On postoperative day 12, the patient developed a sudden increase in ileostomy output, and stool cultures were obtained. His symptoms persisted despite diet modifications, stopping antibiotics, and initiating loperamide. Three days later, stool cultures resulted negative for Escherichia coli, Salmonella, Shigella, Campylobacter species, and Clostridiodes difficile but were positive for methicillin-resistant Staphylococcus aureus. The patient was started on a 10-day course of oral vancomycin and discharged home in good condition 4 days later. After 12 weeks, the patient underwent reversal of the ostomy and is doing well at the 1 month postoperative follow-up, now 5 months from his initial surgery. CONCLUSIONS: To our knowledge, this is the first published report of a toddler being diagnosed with methicillin-resistant Staphylococcus aureus enterocolitis. Because methicillin-resistant Staphylococcus aureus enterocolitis is rare and has overlapping symptoms with more common gastrointestinal pathologies, it is often misdiagnosed. When a patient presents with diarrhea or high ostomy output along with fecal cultures negative for Clostridiodes difficile and other common pathogenic agents, methicillin-resistant Staphylococcus aureus should be considered.

The practical dietary management of food protein-induced enterocolitis syndrome.

OBJECTIVE: Food protein-induced enterocolitis syndrome (FPIES) is a non-immunoglobulin E-mediated food allergy with potential risk of malnutrition related to the early onset of disease, frequent avoidance of cow's milk, and the possibility of multiple food triggers. This publication is aimed at providing an evidence-based, practical approach to the dietary management of FPIES. DATA SOURCES: This is a narrative review summarizing information from national and international guidelines, retrospective studies, population studies, review articles, case reports, and case series to evaluate for nutritional risk and develop guidance for risk reduction in children with FPIES. STUDY SELECTIONS: We have included retrospective clinical cohort studies, population-based studies, case reports, and case studies. We did not exclude any studies identified owing to the small number of studies addressing the nutritional management of individuals with FPIES. RESULTS: Children with FPIES are at risk of malnutrition owing to suboptimal oral intake, limited food choices, and knowledge deficits related to feeding. In particular, children with 3 or more FPIES triggers seem to be at increased risk for poor weight gain and developing food aversion. Caregivers of children with FPIES also report a high degree of psychosocial burden. CONCLUSION: Appropriate dietary management entails the following 3 essential components: supporting normal growth and development, avoidance of allergens, and advancement of complementary foods. Education to avoid the trigger food and assisting caregivers in creating an individualized, well-designed complementary feeding plan to meet the infant's nutritional needs for optimal growth and development are essential management strategies.

Case of antibiotic-associated diarrhea caused by Staphylococcus aureus enterocolitis.

PURPOSE: A case of Staphylococcus aureus enterocolitis (SEC) misdiagnosed as toxin-negative Clostridium difficile is reported. SUMMARY: An 82-year-old white man weighing 50 kg (body mass index, 16.8 kg/m(2)) was transported from an assisted living facility to the emergency department with the chief complaints of weakness, nausea, and diarrhea for one week and one bright-red stool on the morning of admission. Before hospital admission, he was treated for a urinary tract infection with ciprofloxacin 500 mg twice daily for 10 days. Stool cultures were negative for C. difficile but positive for S. aureus. The antimicrobial stewardship pharmacist recommended treatment with vancomycin 125 mg orally every 6 hours for staphylococcal colitis. Oral vancomycin was discontinued after three doses on the morning of hospital day 8 after a gastroenterology consultation. Within 48 hours of the discontinuation of oral vancomycin, the patient had eight stools per day. Vancomycin was reinitiated and the patient's symptoms began to again improve. On hospital day 19, the patient was discharged with a prescription for 7 more days of therapy with vancomycin (to complete a 15-day course) and a diagnosis of toxin-negative C. difficile, despite having symptoms consistent with SEC and an enteric culture positive for S. aureus. CONCLUSION: An 82-year-old man was transferred from an assisted living facility to the hospital with profuse diarrhea and dehydration. Enteric cultures were positive for methicillin-resistant S. aureus with multiple negative C. difficile toxin B assays. Appropriate therapy was delayed and the patient potentially misdiagnosed with toxin-negative C. difficile when the clinical symptoms and diagnostic testing were consistent with SEC.

Clostridium difficile toxin testing by National Health Service (NHS) acute Trusts in England: 2008-2013.

In October 2007, a governmental 3-year target to reduce Clostridium difficile infection (CDI) by 30%, with financial penalties levied for failure, was introduced in England. This target was met within just 1 year, leading to speculation of 'gaming', with hospitals empirically treating possible CDI in the absence of a microbiological diagnosis, to avoid having to report confirmed cases. An analysis of aggregate mandatory data on levels of testing for C. difficile toxin showed little evidence of a fall in testing during the steepest infection rate reductions, suggesting that this was not a major factor in the decline in CDI.

A case of severe allergic reaction to cooked potato.

UNLABELLED: White potato is a very common ingredient in the diet of infants in Mediterranean countries, and in its cooked form, it is one of the first solid foods introduced, usually around the age of 4-6 months. Allergy to potato is uncommon, and allergic reactions to cooked potato have been reported only in children. We report a case of severe potato-induced allergic reaction in an 8-month-old infant with atopic dermatitis and multiple food allergies that raises questions about differential diagnosis between anaphylaxis and food protein-induced enterocolitis syndrome (FPIES). CONCLUSION: Allergy to cooked potatoes could be a cause of severe although rare allergic reactions; it could be very difficult, in some cases, to make a differential diagnosis between anaphylaxis and FPIES. Moreover, the diagnosis appears to be very important for the choice of therapy and long-term allergologic management.

Persistent obstructive symptoms after surgery for Hirschsprung's disease: development of a diagnostic and therapeutic algorithm.

BACKGROUND: Although most children with Hirschsprung's disease (HD) do well after pull-through surgery, some continue to have persistent obstructive symptoms that may lead to significant morbidity. The author's goal was to develop an organized algorithm for the workup and ultimate management of these symptoms. METHODS: All children referred to the author with severe obstructive symptoms after a pull-through for HD were evaluated using an algorithm based on 5 potential etiologies, and appropriate therapeutic interventions were instituted. RESULTS: A total of 49 children were evaluated over 7 years. Mechanical obstruction was found using rectal examination and barium enema in 7, of which, 2 had resection of a Duhamel spur, and 5 had a repeat pull-through (after failed dilatation). Rectal biopsy results showed aganglionosis in 10, of whom, 8 underwent repeat pull-through, and 2 refused further surgery. Abnormal intestinal motility or intestinal neuronal dysplasia was found proximal to the aganglionic segment in 10 children using colonic and small bowel manometry or laparoscopic biopsies; 4 of these had additional colon resected and repeat pull-through, and 6 were treated with a bowel management routine, cecostomy, or stoma formation. Internal sphincter achalasia was felt to be the primary cause of symptoms in 14, and all were treated with intrasphincteric botulinum toxin. Eight were found not to fall into any of the above groups and were treated medically for presumed functional megacolon; 2 of these ultimately had a colostomy. CONCLUSIONS: An organized approach to the diagnosis and management of obstructive symptoms in a child after a pull-through for HD permits accurate diagnosis and effective treatment in the majority of cases.

Neutropenic enterocolitis in a patient with colorectal carcinoma: unusual course after treatment with 5-fluorouracil and leucovorin--a case report.

BACKGROUND: Neutropenic enterocolitis is observed in approximately 25% of patients with acute leukemia, but has been reported rarely in patients with solid tumors. If treatment is not initiated promptly, the mortality is high. The incidence of this disease is rising in patients with hematologic malignancies. Increasing numbers of patients with solid tumors are subject to high dose chemotherapy regimens or new drugs known to cause severe neutropenia. Therefore, the frequency of this disease can be expected to increase. METHODS: The authors report a patient with colorectal carcinoma who developed neutropenic enterocolitis after treatment with 5-fluorouracil and leucovorin. RESULTS: The patient developed the typical clinical picture of abdominal pain, diarrhea, and neutropenia. The course was complicated by a recurrence of symptoms after initially successful antibiotic therapy without the patient receiving further chemotherapy. CONCLUSIONS: This case indicates that neutropenic enterocolitis may occur in patients with colorectal carcinoma receiving 5-fluorouracil and leucovorin.

Radiologic investigation of acute inflammatory and infectious bowel disease.

Definitive diagnosis of infectious or idiopathic inflammatory bowel disease ultimately rests on histologic and bacteriologic documentation. Nevertheless, radiologic studies play an important role in the evaluation and management of patients with acute enterocolitis. Plain abdominal films can give a gross estimate of disease extent in the colon and detect complications, such as perforation or toxic megacolon. Double-contrast barium enema allows visualization of the mucosal pattern and the overall configuration of the bowel, which are important for determining the extent and severity of disease and its most likely cause. Cross-sectional imaging depicts the mural and mesenteric involvement as well as intraperitoneal complications of inflammatory bowel disease, thus providing a critically important perspective that complements the information afforded by endoscopic and conventional radiographic techniques.

Enterocolitis associated with Hirschsprung's disease: a clinical-radiological characterization based on 168 patients.

The enterocolitis associated with Hirschsprung's disease (HD) has not been clearly characterized. This study was undertaken to analyze the clinical and radiological findings of Hirschsprung's enterocolitis (HEC) in 168 patients treated from July 1974 through October 1992. HEC occurred in 57 patients (33.9%), either preoperatively (13; 7.7%) or postoperatively (36; 21.4%). In eight patients (4.8%), it occurred pre- and postoperatively. The number of bouts of HEC per patient ranged from one to six (mean, 2.2). The major presenting features were abdominal distension (83%), explosive diarrhea (69%), vomiting (51%), fever (34%), lethargy (27%), rectal bleeding (5%), and colonic perforation (2.5%). There were no deaths directly related to HEC. The analysis of 150 plain x-rays of the abdomen, taken at the onset of HEC or in between bouts, showed that colonic dilatation was the most sensitive radiological finding (90% sensitivity), but it had poor specificity (24%). However, an intestinal cutoff sign (gaseous intestinal distension with abrupt cutoff at the level of the pelvic brim) was both sensitive (74%) and specific (86%) for HEC. Barium enema was of limited value in the diagnosis of HEC bouts because most of the radiographic findings persisted for prolonged periods after cessation of such bouts. The authors conclude that (1) HEC can be characterized as abdominal distension and explosive diarrhea associated with the intestinal cutoff sign and (2) the occurrence of explosive diarrhea in any patient with HD is suggestive of HEC, even in the absence of systemic symptoms, and should be treated to avoid the morbidity and potential mortality of HEC.

Sonography of inflammatory bowel disease: findings and value in differential diagnosis.

OBJECTIVE: Inflammatory bowel diseases produce segmental or diffuse mural thickening of the intestine that can be detected and evaluated by using sonography. The purpose of this study was to evaluate the sonographic findings and determine their diagnostic value in patients with inflammatory bowel diseases. MATERIALS AND METHODS: We reviewed sonograms of 81 patients with inflammatory bowel diseases. The findings were compared with those of barium study, colonoscopy, and surgery. Forty-five patients had tuberculous enterocolitis, 13 had ulcerative colitis, eight had Crohn's disease, five had ischemic colitis, two had Behçet's syndrome, and eight had unspecified colitis. Diagnosis was based on surgical and pathologic findings in 23; results of barium study and endoscopic biopsy in 20; and results of barium study, colonoscopic findings, and clinical findings in 38. RESULTS: Seventy-two patients (89%) had sonograms that showed segmental or diffuse mural thickening and a paucity of luminal content in the involved bowel. Involved areas were the ileocecal region in the cases of tuberculous enterocolitis and Behçet's syndrome, the left side of the colon in ulcerative colitis, and the colon and terminal part of the ileum in Crohn's disease. In ischemic colitis, the distribution of involved bowel was nonspecific. Sonographic findings correlated well with the findings of barium enema or colonoscopy in terms of the involved segments of the bowel. Mesenteric lymphadenitis, omental thickening, and ascites were frequently observed in cases of tuberculous enterocolitis. CONCLUSION: Sonographic evidence of mural thickening of the bowel with a paucity of luminal content may be helpful in the detection of inflammatory bowel diseases. However, the findings are nonspecific, and the differential diagnosis must be related to the specific segment of the bowel involved.

[Chemotherapy of Campylobacter infections]. / Khimioterapiia kampilobakterioza.

A total of 600 patients with suspected alimentary food poisoning were hospitalized. The ++clinico-laboratory findings showed that 27 (4.5 per cent) of them had Campylobacter infection. The cultures of Campylobacter jejuni and Campylobacter coli were isolated from 24 and 3 patients, respectively. The patients underwent complex pathogenetic treatment with oral rehydration saline solutions, symptomatic agents, enzymatic preparations and diet (the basic therapy) supplemented with biological bacterial preparations in less severe cases (8 patients). Antibacterial drugs such as furazolidone (roxytromycin), gentamicin and levomycetin, as well as fluoroquinolones such as ofloxacin and ciprofloxacin were additionally used in the treatment of both the patients with the generalized infection and those with more severe processes of the disease, pronounced diarrhea with blood traces and persisting isolation of Campylobacter (12 patients). The most favourable results in the treatment of more severe patients with Campylobacter infection were obtained with the fluoroquinolones used after inadequately efficient therapy with furazolidone or antibiotics especially in the cases with repeated isolation of campylobacteria.