Treatment of Congenital Microgastria.

INTRODUCTION: Congenital microgastria is an extremely rare birth defect. The aim of this study was to present an overview of existing literature on the treatment of microgastria. MATERIALS AND METHODS: The term "microgastria" was used in a PubMed and Medline search. Since merely case reports were found, only a narrative synthesis with limited statistical analysis can be given. Data of different treatment modalities were collected and divided into two groups: conservative or less invasive treatment (C/LT, i.e., modified diet or a gastrostomy/jejunostomy) and extensive gastric surgery (EGS, i.e., Hunt-Lawrence pouch or total esophageal gastric dissociation). Clinical outcome parameters (nutrition, growth pattern, and mortality) were compared. RESULTS: Out of 73 articles published from 1973 to 2019, 38 articles describing 51 cases were included. In four patients, microgastria was an isolated anomaly (8%). Type of treatment was described in only 46 patients, 19 were treated by C/LT. Mortality was 9/19 (47%) in the C/LT group versus 4/27 (15%) in the EGS group (chi-square = 5.829, p = 0.016, Fisher = 0.022). There was a negative correlation between the invasiveness of the treatment and both mortality (r = -0.356, p = 0.015) and comorbidity (r = -0.506, p <0.001). Patients in the C/LT group had significantly more comorbidity than in the EGS group (mean = 4.32 vs. 2.26, p = 0.001). There was a positive correlation between comorbidity and mortality (r = 0.400, p = 0.006). Median follow-up was 42 months (range: 1-240). Type and way of nutrition were poorly described. In at least 9 of the 33 surviving patients, oral feeding was reported as normal, of whom 8 belonged to the EGS group. In all patients, growth could be acknowledged, but in comparison to peers, final body length was less. There was no difference in final body length between the two treatment groups. CONCLUSION: In patients with congenital microgastria, only minimal differences in clinical outcome in terms of type of nutrition and body growth were found when C/LT was compared with treatment by EGS. Mortality was significantly higher in the first group as well as the amount of comorbidities.

Identification and management of pancreas divisum.

Introduction: Pancreas divisum is the most common congenital malformation of the pancreas with the majority asymptomatic. The etiological role, pathogenesis, clinical significance and management of pancreas divisum in pancreatic disease has not been clearly defined and our understanding is yet to be fully elucidated.Areas covered: This review describes the role of pancreas divisum in the development of pancreatic disease and the ambiguity related to it. In our attempt to offer clarity, a comprehensive search on PubMed, Ovid, Embase and Cochrane Library from inception to May 2019 was undertaken using key words "pancreas divisum", "idiopathic recurrent acute pancreatitis" and "chronic pancreatitis".Expert opinion: Current research fails to define a clear association between pancreas divisum and pancreatic disease. Though debatable, several studies do suggest a pathological role of pancreas divisum in pancreatic disease and a benefit of minor papilla therapy in the setting of acute recurrent pancreatitis. Surgical and endoscopic therapeutic modalities have not been directly compared. With the current data available, it would be imprudent to advise a definitive line of management for pancreatic disease associated with pancreas divisum and should involve a comprehensive discussion with the individual patient to define expectations before embarking on any medical and/or interventional therapy.

La atención primaria del paciente con el antecedente de una malformación digestiva, defectos de pared abdominal o diafragmáticos / The primary care of a patient with a history of a gastrointestinal malformation and abdominal wall or diaphragmatic defects

La supervivencia de los pacientes con antecedentes de malformaciones congénitas complejas ha aumentado en las últimas décadas. El pediatra de atención primaria debe conocer los problemas más habituales que pueden presentar este grupo de pacientes. Además, puede ofrecer una visión global que, a menudo, se pierde en las consultas especializada. En este trabajo se recogen algunas de las malformaciones congénitas digestivas y respiratorias más habituales, como atresia de esófago, defectos de pared abdominal, malformación anorrectal y enfermedad de Hirschsprung, y hernia diafragmática congénita. Se señalan los problemas de mayor interés para el pediatra, haciendo hincapié en las complicaciones a largo plazo y en todas las dimensiones de la persona

Survival of patients with congenital malformation has improved over the last decades. Primary care paediatricians must be aware of the most common problems that this group of patients suffers. More importantly, paediatricians can offer a holistic view that is often lost in specialised consultation. This article is focused on common congenital malformation, such as oesophageal atresia, abdominal wall defects, anorectal malformation and Hirschsprung disease, and congenital diaphragmatic hernia. The main problems are shown, with special emphasis on long-term complications and all the dimensions of the individual

[The primary care of a patient with a history of a gastrointestinal malformation and abdominal wall or diaphragmatic defects]. / La atención primaria del paciente con el antecedente de una malformación digestiva, defectos de pared abdominal o diafragmáticos.

Survival of patients with congenital malformation has improved over the last decades. Primary care paediatricians must be aware of the most common problems that this group of patients suffers. More importantly, paediatricians can offer a holistic view that is often lost in specialised consultation. This article is focused on common congenital malformation, such as oesophageal atresia, abdominal wall defects, anorectal malformation and Hirschsprung disease, and congenital diaphragmatic hernia. The main problems are shown, with special emphasis on long-term complications and all the dimensions of the individual.

A descriptive model for a multidisciplinary unit for colorectal and pelvic malformations.

INTRODUCTION: Patients with anorectal malformations (ARM), Hirschsprung disease (HD), and colonic motility disorders often require care from specialists across a variety of fields, including colorectal surgery, urology, gynecology, and GI motility. We sought to describe the process of creating a collaborative process for the care of these complex patients. METHODS: We developed a model of a devoted center for these conditions that includes physicians, psychologists, social workers, nurses, and advanced practice nurses. Our weekly planning strategy includes a meeting with representatives of all specialties to review all patients prior to evaluation in our multidisciplinary clinic, followed by combined exams under anesthesia or surgical intervention as needed. RESULTS: There are 31 people working directly in the Center at present. From the Center's start in 2014 until 2017, 1258 patients were cared for from all 50 United States and 62 countries. 360 patients had an ARM (110 had a cloacal malformation, 11 had cloacal exstrophy), 223 presented with HD, 71 had a spinal malformation or injury causing neurogenic bowel, 321 had severe functional constipation or colonic dysmotility, and 162 had other diagnoses including familial polyposis, Crohn's disease, or ulcerative colitis. We have had 170 multidisciplinary meetings, 170 multispecialty outpatient, and 52 nurse practitioner clinics. In our bowel management program we have seen a total of 514 patients in 36 sessions. CONCLUSION: This is the first report describing the design of a multidisciplinary team approach for patients with colorectal and complex pelvic malformations. We found that approaching these patients in a collaborative way allows for combined medical and surgical decisions with many providers simultaneously, facilitates therapy, and can potentially improve patient outcomes. We hope that this model will help establish new-devoted centers in other locations to encourage centralized care for these rare malformations. LEVEL OF EVIDENCE: IV.

Comparative study of intestinal malrotation in infant, children, and adult in a tertiary care center in India.

BACKGROUND: Intestinal malrotation (IM) is an uncommon condition and has varied presentation in different age groups. The study was aimed to evaluate differences in the clinical presentation, diagnosis, treatment, and outcome of IM in infants, children, and adults. METHODS: Data were collected from records of 79 patients with IM. Based on the age of presentation, these patients were categorized into three age groups: infants (up to 1 year), children (1-18 years), and adults (> 18 years). Follow up data were analyzed during 8 to 16 year after corrective surgery. RESULTS: The overall age of presentation ranged from 8 days to 60 years. Twenty-eight, 29, and 22 patients belonged to the infant, children, and adult groups, respectively. The classical presentation of IM (bilious vomiting) was significantly higher in the infant compared to the children and adult groups (100% vs. 62% vs. 9.8%; p < 0.001). All infants presented with acute symptoms. However, children and adults had subacute or chronic presentations, respectively. The incidence of volvulus was significantly higher in the infant group than other two groups, (100% vs. 41% vs. 10%; p < 0.001). Doppler ultrasound was highly accurate in infants (100%), whereas contrast-enhanced computed tomography (CECT) abdomen was found to be most useful in adults. Postoperative complications were more common in adults. CONCLUSION: Intestinal malrotation can present in patients of any age group. An increased awareness about the atypical presentations of this condition among adults may reduce the time to accurate diagnosis of this disease.

Malrotation of midgut in adults, an unsuspected and neglected condition--An analysis of 64 consensus confirmed cases.

INTRODUCTION: Malrotation of midgut is considered to be a condition of childhood. This study evaluated malrotation in adults with recurrent abdominal pain (RAP). METHODS: Sixty-four consensus-confirmed cases of intestinal malrotation were reviewed. The diagnosis was based on radiological criteria, and the consensus was arrived at by at least three of the five authors in any individual case. RESULTS: Abnormal duodenojejunal junction (DJJ) was a consensus finding in 64 cases referred for RAP. Most were in their fourth decade of life, and 12 were beyond 60 years. Besides RAP, intolerance to food was the next common symptom. Acute intestinal obstruction was seen in 16. Forty-two of 64 patients consented for surgery. Ladd's procedure was the commonest. All patients who underwent surgery were symptom free except for two, of which, one had liver cyst and the other had hernia. Of those who refused surgery (22), all had continued symptoms and 10 patients took alternative therapies. On follow up of initially unwilling patients (for surgery) with abnormal DJJ, only eight consented for surgery; three underwent open Ladd's procedure, and one had laparoscopic Ladd's done. CONCLUSION: Malrotation is not uncommon as a cause of RAP in adults.

Currarino syndrome: report of five consecutive patients.

INTRODUCTION: The Currarino syndrome is regarded as a developmental disorder based on its recognized etiological heterogeneity. This syndrome is thought to result from abnormal separation of the neuroectoderm from the endoderm. Our aim was to report the neurosurgical management of Currarino syndrome in children and adults and to describe what clinician could do if the Currarino triad was suspected. CASE REPORTS: We present five cases of Currarino triad who underwent surgical intervention. All patients had sacral bony deformity, anorectal malformations, and anterior sacral meningocele. A 40-year-old-male had chronic constipation. He was incidentally diagnosed with Currarino syndrome. A 19-year-old-female suffered from a slight weakness in lower extremities and urinary incontinence. Her past medical history was remarkable for anal atresia. The other three cases were children. CONCLUSION: When an anterior sacral meningocele is encountered, Currarino syndrome should be taken into consideration. Although it is rarity, the Currarino syndrome might be one of the causes of chronic constipation. Endoscopic or endoscope-assisted surgery via a posterior sacral route can be feasible for treatment of some of the patients with anterior sacral meningocele. Anterior meningocele pouch associated with Currarino syndrome will regresses over time following transdural ligation of its neck.

Classification and diagnostic criteria of variants of Hirschsprung's disease.

"Variants of Hirschsprung's disease" are conditions that clinically resemble Hirschsprung's disease (HD), despite the presence of ganglion cells in rectal suction biopsies. The diagnosis and management of these patients can be challenging. Specific histological, immunohistochemical and electron microscopic investigations are required to characterize this heterogeneous group of functional bowel disorders. Variants of HD include intestinal neuronal dysplasia, intestinal ganglioneuromatosis, isolated hypoganglionosis, immature ganglia, absence of the argyrophil plexus, internal anal sphincter achalasia and congenital smooth muscle cell disorders such as megacystis microcolon intestinal hypoperistalsis syndrome. This review article systematically classifies variants of HD based on current diagnostic criteria with an additional focus on pathogenesis, epidemiology, clinical presentation, management and outcome.

Making the case for using donor human milk in vulnerable infants.

Vulnerable infants are at an increased risk for feeding intolerance due to immaturity or dysfunction (ie, congenital anomaly or obstruction) of the gastrointestinal system and/or hemodynamic instability. Symptoms of feeding intolerance include vomiting, water-loss stools, increased abdominal girth, and increased gastric residuals. It has been well documented that human milk provides optimal nutrition for infants and decreases the incidence of feeding intolerance. Donor human milk can be used for these at-risk infants to supplement the mother's own milk supply if insufficient or if the mother has decided not to or is unable to provide human milk for her infant. Establishing a donor human milk program within your institution will allow an opportunity for all vulnerable infants to receive an exclusive human milk diet.

[Children's gastroenterology--present and future].

Diseases of digestive organs at children are similar to adults, but have their own specifics. Disease pattern is not well-defined for the following reasons: children of early age can not accurately describe their complaints; incomplete development of digestive and other body systems, birth defects and abnormal developments. All the above are elements which show the complexity of the children's gastroenterology. The main aims of the children's gastroenterology which are raised in this article are early diagnostics, prescription of appropriate treatment and maintenance of follow-up care in compliance with modern tendencies in medical science. Adult and children's gastroenterology look like two sides of one rapid river. To build the bridge between them and to arrange the succession between children and adult diseases is the aim of modern gastroenterologists.

[Surgical treatment of chronic coprostasis].

Surgical treatment of 27 patients with chronic colostasis and dolichocolon was analyzed. Groups of patients with cologenic and proctogenic colostasis were defined, diagnostic criteria were formulated and optimal surgical tactics were described for each group. Short and long-term results were analyzed and proved to be excellent and satisfactory in majority of patients.

Ectopic opening of the common bile duct into various sites of the upper digestive tract: a case series.

BACKGROUND: Ectopic opening of the common bile duct (CBD) into the GI tract is an extremely rare congenital anomaly. The clinical implications and frequency of this anomaly are not clearly known. OBJECTIVE: To present a case series of ectopic opening of the CBD into various sites of the upper digestive tract and discuss clinicopathological features of this condition. DESIGN AND SETTING: Retrospective, observational study in a single tertiary care medical center. PATIENTS: Consecutive patients undergoing ERCP who received a diagnosis of an ectopic opening of the CBD between September 2001 and August 2009 were reviewed. INTERVENTIONS: Endoscopic and cholangiographic findings were reviewed. MAIN OUTCOME MEASUREMENTS: The endoscopic and cholangiographic findings and clinical course of these patients were reviewed. RESULTS: During the study period, 1040 patients underwent ERCP. A total of 11 patients (6 men and 5 women with a median age of 59.2 years) received a diagnosis of an ectopic opening of the CBD. The opening sites of the CBD were located as follow: 1 in the stomach, 4 in the duodenal bulb, 3 at a more lateral site of the second portion of the duodenum, and 3 in the third part of the duodenum. Seven patients had choledocholithiasis, 2 had acute pancreatitis, and 3 had severe cholangitis. CONCLUSION: Although an ectopic opening of the CBD is rare, it may be associated with severe pancreaticobiliary disorders. Endoscopists should be aware of this anomaly and know what to do in case they encounter the condition.

The clinical presentations of ectopic biliary drainage into duodenal bulbus and stomach with a thorough review of the current literature.

BACKGROUND: Ectopic biliary drainage is a rare congenital anomaly on which we have scarce data in the current literature. METHODS: The data were collected from the records of 400 endoscopic retrograde cholangio-pancreatography (ERCP). In this report, we present 10 cases (male/female: 9/1, mean age 54 years, range 38-74) with ectopic biliary openings into the duodenum and/or stomach diagnosed by endoscopic retrograde cholangio-pancreatography (ERCP). RESULTS: In our series, the frequency of ectopic biliary drainage is 2% (10 out of 400 ERCPs). Recurrent attacks of cholangitis and complicated ulcer formation in the distal stomach and bulbar duodenum were the most common signs in the present series. The sites of ectopic biliary drainage were the stomach in 1 case, the duodenum bulbus in 7 cases and the postbulbar duodenum in 2 cases. Bulbar ulcer, deformed pylorus and bulbus were present in 7 cases, apical bulbar stricture in 2, gastric ulcer in 1, pyloroplasty and/or gastroenterostomy in 3 cases. One case had had previous bleeding episode. Some of them had undergone previous surgeries for gall-stone disease (cholecystectomy in 5 cases, bile duct operation in 3 cases) and ulcer complications (pyloroplasty/gastroenterostomy in 3 cases). ERCP revealed dilatation of the biliary tree and hook shaped distal choledochus in all cases, choledocholithiasis in 7 and Mirizzi syndrome in 1. Endoscopic balloon dilatations for gastric outlet obstruction, extraction of bile stones after balloon dilating the ectopic site, surgery for difficult cases with large bile duct stones or with gastric outlet obstruction were preferred methods in this series of patients. CONCLUSION: With this report, we have to remind that ectopic biliary drainage must be considered in the differential diagnosis when the clinician faces cases with gastric outlet obstruction due to peptic ulcer formation accompanied by cholangitis/cholestasis.

Constipação intestinal / Intestinal constipation

Os autores destacam a importância da constipação intestinal, por sua alta incidência e tendência à cronificação, apresentando inicialmente sua conceituação e, a seguir, a definição dos distúrbios funcionais da defecação, os fatores etiológicos, apresentação clínica, diagnóstico diferencial e tratamento.Citam, igualmente, o papel da manometria anorretal na investigação do doença de Hirschsprung e a relação entre constipação e alergia ao leite de vaca. Finalmente, analisam as inter-relações entre constipação, prebióticos e probióticos.

Desquamative enteropathy and pyloric atresia without skin disease caused by a novel intracellular beta4 integrin mutation.

BACKGROUND: Mutations in alpha6 or beta4 integrins (ITGA6, ITGB4) are known to cause junctional epidermolysis bullosa with pyloric atresia (JEB-PA), often lethal in infancy through skin desquamation. There is 1 report of pyloric atresia associated with a desquamatory enteropathy but without skin disease, of unknown molecular basis. PATIENTS AND METHODS: We report 2 Kuwaiti siblings with pyloric atresia and life-threatening intestinal desquamation without significant skin abnormality. The older sibling died of intractable diarrhoea, and the younger sibling suffered episodes of massive protein-losing enteropathy, triggered by viral infections, in addition to obstructive uropathy. Mutation analysis was performed for ITGA6 and ITGB4 and expression of ITGA6 and ITGB4 protein was examined in skin and intestinal biopsies. Her serum also was incubated with normal intestine. RESULTS: We identified a novel mutation in ITGB4, with homozygous deletion of a single residue (isoleucine 1314) within the intracellular plectin-binding domain. Expression of ITGA6 and ITGB4 within skin, duodenal, and colonic epithelium was normal or minimally reduced, in contrast to previous reports. Biopsies taken during relapse showed accumulation of immunoglobulin G and C1q within intestinal basement membrane, whereas immunoglobulin G from her serum bound to basement membrane of normal small intestine. Immunomodulatory therapy induced significant improvement following relapses. CONCLUSIONS: ITGB4 mutation may induce a desquamative enteropathy in infancy without significant skin disease. A history of pyloric atresia is important in infants with severe chronic diarrhoeal disease and should prompt investigation for JEB-PA associated mutations. Acquired immune responses may exacerbate primary genetic disorders of epithelial adhesion and immunomodulatory therapy may be beneficial.

Permanent intestinal failure.

CONTEXT: Intestinal failure (IF) requires the use of parenteral nutrition as long as it persists and may be in case of persistence an indication for intestinal transplantation. EVIDENCE ACQUISITION: Literature search was performed both electronically and manually. RESULTS AND CONCLUSIONS: Biological evaluation of IF is becoming possible with the use of plasma citrulline as a marker of intestinal mass. Short bowel syndrome (SBS) is the leading cause of intestinal failure in infants while few epidemiological data are available to date. Data on morbidity and mortality in pediatric patients with SBS are very limited while long-term outcome seems to be improving. Other causes of intestinal failure include neuro muscular intestinal disease and congenital disease of enterocyte development. The management of IF should include therapies adapted to each type and stage of IF based on a multidisciplinary approach, in centers involving pediatric surgery, pediatric gastroenterology, parenteral nutrition expertise, home parenteral nutrition program, and liver-intestinal transplantation experience. Timing for referral of patients in specialized centers remains a crucial issue. The main causes of IF are briefly reviewed emphasizing the medico-surgical strategy for prevention and care-provision, adapted to each type and stage of IF.