[Developmental disorders of the gastrointestinal tract]. / Entwicklungsstörungen des Gastrointestinaltrakts.

BACKGROUND: Developmental disorders of the gastrointestinal tract comprise a broad spectrum of congenital malformations of different etiologies and locations from the mouth to the anus. METHODS: The authors present the most important malformations of the gastrointestinal tract on the basis of basic and current reviews. RESULTS: Gastrointestinal developmental disorders occur both sporadically and in connection with malformation syndromes. Symptoms are highly variable and range from postnatal emergencies to asymptomatic abnormalities, which may be incidental radiological findings. Prenatal ultrasound examinations can often identify gastrointestinal developmental disorders at an early stage. Here, fetal magnetic resonance imaging can be a useful addition to the diagnostic process. In the first few days of life, simple X­ray overview images, supplemented by images after the administration of contrast medium, are often sufficient. CONCLUSION: Many patients with a malformation of the gastrointestinal tract require lifelong medical care, so that not only pediatric radiologists need specific knowledge about this group of diseases.

Septic shock: an atypical complication of alimentary tract duplication. / Shock séptico: complicación atípica de duplicación del tracto alimentario.

Alimentary tract duplications are heterogenous congenital anomalies of the digestive tract. Their form of presentation is varied, and they may lead to different complications, depending on their natural course. Infection is a rare complication, but it cannot be ignored because of its severity. Here we describe the case of an otherwise healthy 2-year-old girl with an atypical complication of alimentary tract duplication: septic shock. She initially consulted due to abdominal distension and pain associated with a palpable abdominal mass. The imaging studies showed a partial fluid septation in the right side of the abdomen. During hospitalization, an intratumoral infection developed, which progressed to septic shock. The patient responded favorably to medical treatment for shock, and surgical resection was subsequently performed. The pathology report confirmed the presence of alimentary tract duplication.

Las duplicaciones del tracto alimentario son un conjunto heterogéneo de anomalías congénitas del tubo digestivo. Su forma de presentación es variada, y pueden desarrollar distintas complicaciones libradas a su evolución natural. La infección es una complicación poco frecuente, pero que no puede desconocerse por la gravedad que implica. Se presenta el caso de una paciente de 2 años de edad, previamente sana, con una complicación atípica de una duplicación del tracto alimentario: un shock séptico. Consultó inicialmente por distensión y dolor abdominal asociado a una masa abdominal palpable. Los estudios imagenológicos evidenciaron una formación líquida parcialmente tabicada en el hemiabdomen derecho. Durante la internación, se presentó una infección intratumoral, que evolucionó al shock séptico. Respondió favorablemente al tratamiento médico del shock, y se realizó la exéresis quirúrgica posteriormente. La anatomía patológica confirmó la duplicación del tracto alimentario.

Upper gastrointestinal series in healthy neonates with bilious vomiting-is it still obvious? A retrospective observational study.

AIM: Demand for upper gastrointestinal contrast series (UGI) to investigate bilious vomiting (BV) has increased in recent years, mostly due to greater awareness of the need to rule out malrotation and midgut volvulus (MGV). We aimed to examine predictive value of clinical parameters in the management of healthy neonates presenting with BV and re-assess the role of UGI in their management. METHODS: A retrospective cohort study including medical, imaging and surgical data of neonates who underwent UGI due to BV. RESULTS: A total of 157 term neonates, eight neonates (5.1%) had confirmed surgical diagnosis of malrotation, five of them had malrotation with MGV, including two neonates who underwent extensive intestinal resection due to necrosis. Neonates with a combination of abnormal plain radiograph and abdominal distention had 10 times higher odds of malrotation diagnosis, adjusting for age at first BV (p = 0.017). Neonates with a combination of abnormal plain radiograph, abdominal distention and abdominal tenderness had 25 times higher odds of MGV (p = 0.002). CONCLUSION: This study reaffirms the role of UGI as the current main diagnostic tool for malrotation and MGV. Physical examination and plain radiograph findings can help but cannot substitute UGI study.

[Upper gastrointestinal duplication complicated by perforation in a child]. / Udvoenie verkhnikh otdelov zheludochno-kishechnogo trakta, oslozhnennoe perforatsiei u rebenka.

Gastrointestinal duplications are rare congenital malformations occurring in embryonic period of development of digestive system. These abnormalities are usually found in infancy or early childhood. Clinical presentation is extremely diverse depending on dimensions, localization and type of duplication. The authors present duplication of antral and pyloric parts of the stomach, the 1st segment of the duodenum and pancreatic tail. Mother with a 6-month-old child turned to the hospital. According to the mother, the child was sick for about 3 days when episodes of periodic anxiety first appeared. Upon admission, abdominal neoplasm was suspected after ultrasound. On the second day after admission, anxiety increased. There was impairment of appetite, and the child rejected food. Abdominal asymmetry in umbilical area was observed. Considering clinical data on intestinal obstruction, emergency transverse right-sided laparotomy was performed. A tubular structure was found resembling intestinal tube was found between the stomach and transverse colon. Surgeon found duplication of antral and pyloric parts of the stomach, the 1st segment of the duodenum and its perforation. During further revision, additional pancreatic tail was diagnosed. En-bloc resection of gastrointestinal duplications was carried out. Postoperative period was uneventful. Enteral feeding was initiated after 5 days, and the patient was transferred to surgical unit. The child was discharged after 12 postoperative days.

Small Bowel Congenital Anomalies: A Review and Update.

The small intestine is a complex organ system that is vital to the life of the individual. There are several congenital anomalies that occur and present most commonly in infancy; however, some may not present until adulthood. Most congenital anomalies of the small intestine will present with obstructive symptoms, whereas some may present with vomiting, abdominal pain, and/or gastrointestinal bleeding. Various radiologic procedures can aid in the diagnosis of these lesions that vary depending on the particular anomaly. The congenital anomalies of the small intestine discussed include Meckel diverticulum, duodenal web, duodenal atresia, jejunoileal atresia, and intestinal duplications.

Surgical management of Currarino syndrome in elderly patient with infected pre-sacral mass: Technical nuances and review of literature.

OBJECTIVE: Currarino Syndrome (CS) is a rare autosomal dominant genetic disorder that is defined by a triad of: presacral mass, anorectal malformations, and sacral bone dysplasia. Once discovered, these lesions are often surgically treated to avoid life threatening complications such as meningitis and malignant transformation of a sacral teratoma. As this syndrome is usually diagnosed in childhood, accurate diagnosis in adults presenting with this syndrome can be challenging and delay treatment. We present a case report with diagnostic and surgical management strategies of CS presenting in an elderly patient with accompanying review of literature. METHODS: We performed a literature review by searching PubMed, Ovid Embase, and Scopus electronic databases with the predetermined inclusion criteria of cases of CS in the adult population. RESULTS: A 70-year-old male with newly diagnosed CS and meningitis successfully underwent resection of his lesion as an interdisciplinary case between neurosurgery and colorectal surgery. At six-month follow up, the patient reports resolution of constipation and urinary symptoms, no longer has signs of infection, and remains neurologically full strength in his lower extremities. A review of literature revealed only 5 previously reported cases of CS presenting in the adult population with 3 of these cases requiring surgical intervention. CONCLUSION: Currarino Syndrome (CS) is an autosomal dominant genetic disorder characterized by a presacral mass, sacral bony deformities, and anorectal malformations. It is usually diagnosed in pediatric age group. In this article, we present a case of a 70-year-old male presenting with meningitis, encephalopathy, and gastrointestinal disturbances.

Midgut malrotation presenting with hyperemesis gravidarum: A case report.

RATIONALE: Midgut malrotation is a rare congenital abnormality resulting from failure of complete intestinal rotation and subsequent fixation during early fetal development. There appeared to be no obvious symptoms in most patients, and a few patients may exhibit symptoms similar to hyperemesis gravidarum, such as nausea and vomiting. Here, we present a case of midgut malrotation presenting as hyperemesis gravidarum. PATIENT CONCERNS: A 27-year-old woman with an intrauterine pregnancy of 27 + 6 weeks complained of severe nausea and vomiting for 2 weeks. DIAGNOSIS: Magnetic resonance imaging showed obvious dilatation in the proximal part of the duodenum and gastric cavity and the absence of a duodenal path dorsal to the superior mesenteric artery, which was diagnosed as midgut malrotation. INTERVENTIONS: Considering that the patient's vital signs were stable, without manifestation of peritonitis or the risks of surgery to the fetus, conservative treatment was adopted. Unfortunately, the fetus developed severe hydrocephalus at 32 weeks. The patient and her family decided to abandon the fetus, and a mid-trimester-induced abortion was performed. OUTCOMES: The related symptoms completely disappeared after delivery, and the relevant examination after discharge also confirmed the presence of midgut malrotation without gastrointestinal discomfort within 1 year after delivery. LESSONS: Midgut malrotation can be considered as a differential diagnosis of hyperemesis gravidarum. Conservative treatment under close monitoring is desirable in pregnant women diagnosed with midgut malrotation.

Primitive neuroectodermal tumor in a child with Currarino syndrome.

BACKGROUND: Curarino syndrome is a rare and complex anomaly with the triad of anorectal malformation, presacral mass and sacral bone deformation. The most common cause of the presacral mass is meningioma, but teratoma is the diagnosis in about one-third of the cases. Malignant transformation of teratoma in the form of carcinoma, rhabdomyosarcoma and leukemia have previously been reported on rare occasions. CASE: A 19 month-old-girl was referred with a presacral mass of 29mm x 23mm x 24mm. She was diagnosed as Currarino syndrome. The presacral mass was surgically resected and pathological examination revealed a foci of primitive neurectodermal tumor. CONCLUSIONS: This is the first case of Currarino syndrome with a primitive neuroectodermal tumor (PNET) foci in the presacral mass. Considering the risk of malignant transformation, the accurate pathological examination is important for complete systemic evaluation and treatment plan in these children.

Variety Of Gastrointestinal Duplications In Children: Experience At Tertiary Care Hospital.

BACKGROUND: Gastrointestinal duplication is a rare developmental anomaly that can be present anywhere along the GI tract, most often being found in ileum. The purpose of this study is to share our experience in evaluation of the presentation, investigations, management challenges and complications of patients with this very rare condition. METHODS: This descriptive case series was conducted at the Department of Paediatric Surgery, National Institute of Child Health Karachi, Pakistan, from April 2018 to October 2019. Data was analysed with regard to age, clinical presentation, investigations, surgical procedures, site and type of lesion, histopathology, complications and outcomes. RESULTS: A total of five patients were managed in one and half year. The patients' ages ranged from antenatally diagnosed foetus to 12 years old child. New-born who presented with antenatal diagnosis of abdominal cyst turned out to have duodenal duplication cyst. Among other four were thoracoabdominal duplication cyst, gastric duplication, jejunal duplication and ileal duplication, last two presented with perforation. Other presentations were abdominal pain, swelling and vomiting. Diagnosis was made on clinical ground, x-ray of abdomen, ultrasound and computed tomography. All cysts were resected successfully and patients remained asymptomatic till one year follow up except one patient who expired postoperatively due to liver failure. CONCLUSIONS: Enteric duplication can present in variety of ways depending on anatomical location. Prompt diagnosis and complete excision of cyst is the aim of treatment. However, these rare types of duplication are a challenge to operating surgeons.

Prenatally diagnosed biliary cysts: A spectrum from congenital biliary dilatation to biliary atresia from the same origin.

Kato and colleagues present prenatal cases with transitional features between congenital biliary dilatation and biliary atresia. They propose that all prenatal biliary cysts originate from choledochal cysts with a narrow segment, but present on a spectrum from congenital biliary dilatation to biliary atresia depending on the severity of reactive biliary sclerosis.

Congenital anomalies of the tubular gastrointestinal tract.

Congenital anomalies of the tubular gastrointestinal tract are an important cause of morbidity not only in infants, but also in children and adults.The gastrointestinal (GI) tract, composed of all three primitive germ layers, develops early during embryogenesis. Two major steps in its development are the formation of the gut tube (giving rise to the foregut, the midgut and the hindgut), and the formation of individual organs with specialized cell types.Formation of an intact and functioning GI tract is under strict control from various molecular pathways. Disruption of any of these crucial mechanisms involved in the cell-fate decision along the dorsoventral, anteroposterior, left-right and radial axes, can lead to numerous congenital anomalies, most of which occur and present in infancy. However, they may run undetected during childhood.Therapy is surgical, which in some cases must be performed urgently, and prognosis depends on early diagnosis and suitable treatment.A precise pathologic macroscopic or microscopic diagnosis is important, not only for the immediate treatment and management of affected individuals, but also for future counselling of the affected individual and their family. This is even more true in cases of multiple anomalies or syndromic patterns.We discuss some of the more frequent or clinically important congenital anomalies of the tubular GI, including atresia's, duplications, intestinal malrotation, Meckel's diverticulum and Hirschsprung's Disease.

Caecum volvulus as a late presentation of intestinal malrotation in an adult: a challenging diagnosis.

Intestinal malrotation is usually diagnosed in early childhood. It results from failure of the normal gut rotation during embryological development. We present a case of a 62-year-old woman with a delayed presentation of an intestinal malrotation. She was admitted in the emergency department with an acute intestinal obstruction. Exploratory laparotomy revealed Ladd's band with caecum volvulus and intestinal malrotation. Ladd's procedure and right hemicolectomy were performed with uneventful recovery. Since both caecum volvulus and intestinal malrotation are rare events, particularly in adulthood, clinical diagnosis is challenging. Our aim is to increase the awareness of surgeons about this rare association as a cause of acute intestinal obstruction.

Intestinal duplication isolated from the digestive tract: an entity to be considered. / Duplicación intestinal aislada respecto al tracto digestivo: una entidad a tener en cuenta.

OBJECTIVES: To review intestinal duplications isolated from the digestive tract. MATERIAL AND METHODS: Description of the 27 isolated intestinal duplication cases published; presentation of a new case. RESULTS: Intestinal duplication isolated from the digestive tract represents an extremely rare malformation. This type of duplication is not in close contact with any segment of the intestinal tract, and it has its own vascular pedicle. Preoperative diagnosis rates are lower than those found in classic duplications. In addition to the potential complications, malformation torsion is also to be considered. CONCLUSIONS: This infrequent variant is to be considered at differential diagnosis. Potential torsion should also be taken into account in order to decide when an asymptomatic patient should undergo surgery.

OBJETIVOS: Revisión de las duplicaciones intestinales aisladas, sin conexión con el tracto digestivo. MATERIAL Y METODOS: Se recopilan los 27 casos de duplicación intestinal aislada publicados hasta el momento y se presenta un nuevo caso. RESULTADOS: Las duplicaciones intestinales aisladas sin conexión con el tracto digestivo representan una variante de la malformación extremadamente rara. Este tipo de duplicaciones no están en contacto íntimo con ningún segmento del tracto intestinal y cuelgan de un pe­dículo vascular propio. Tienen menos tasa de diagnóstico prequirúrgico que las duplicaciones clásicas y a las posibles complicaciones hay que añadir la torsión de la malformación. CONCLUSIONES: Es interesante conocer esta variante infrecuente para considerarla en el diagnóstico diferencial. La posibilidad añadida de torsión debe tenerse en cuenta para decidir el momento de la cirugía en el paciente asintomático.

Right Retrocolic Intrasaccular Duodenum and Intramesenteric Duodenojejunal Junction: Is It a Novel Variant of Isolated Duodenal Non-rotation?

Midgut malrotation with volvulus is one of the true surgical emergencies of childhood. Almost all of the studies on anomalies of the midgut rotation and fixation in the literature and related sections in textbooks were designed according to Dott's classification. Focusing only on common rotation anomalies has led to the exclusion and negligence of other rare variants. Isolated pure duodenal non-rotation is such a variant. Herein, we report a case of an unusual variant of isolated pure duodenal non-rotation which presented with signs of midgut volvulus that was successfully treated. Key Words: Newborn, Malrotation, Non-rotation, Isolated duodenal non-rotation, Midgut volvulus.

Anorectal Malformations: The Earlier the Diagnosis, the Better the Outcome.

OBJECTIVE: To estimate the impact of delayed presentation of anorectal malformation (ARM) in neonates and to compare the presenting characteristics and outcomes of early versus delayed presentation. METHODS: This is a prospective observational study of all neonates (age < 28 d) with ARM over 2 y. Delayed presentation was defined as presentation beyond 48 h of birth. Various presenting features and their early postoperative outcomes were compared. RESULTS: Nearly half (26, 48%) of the 54 neonates with ARM had delayed presentation. Early and late presenters did not differ in terms of gender, gestational age, birth weight, place of delivery, and type of ARM (p > 0.05 for all). Delayed group had lower weight at presentation (p = 0.008), higher incidence of severe abdominal distension (p = 0.05), and sepsis (p = 0.171) and required longer time for resuscitation (p = 0.007) and more inotropes (p = 0.015), preoperatively. Early postoperative outcomes including time for stoma to function, initiate feeds and time to reach full feeds were significantly delayed in late presenters. They also had more wound infections, longer hospital stay and higher mortality. CONCLUSIONS: Delayed diagnosis of ARM is associated with significantly higher morbidity and mortality. Adequate awareness and training of health workers for early identification of ARM by careful perineal examination of all newborns at birth is the need of the hour.

Should all babies with oesophageal atresia have routine screening for midgut malrotation anomalies? A systematic review in search of evidence.

Background/Purpose Oesophageal Atresia (OA) is associated with co-existent anomalies. There is a controversy of literature pertaining to the risk (s) of intestinal malrotation. In order to guide management we critically evaluate the incidence of IM anomalies in OA newborns. Design MEDLINE and EMBASE databases were searched using keywords "(O)Esophageal Atresia and Malrotation/Associated Abnormalities/Associated Anomalies". Full texts of articles were screened if manuscripts exclusively reported patients with OA malrotation and/or associated anomalies. Larger case series (> 10patients) were included if abstract (s) showed that associated anomalies were systematically assessed. Full eligibility criteria required at least one case of malrotation in an OA index case. Data were collected on article type, number of patients and method (s) of diagnosis. Results 632 abstracts were screened of which 158 papers were analysed based on inclusion criteria-30 manuscripts documented the incidence (%) of malrotation. Incidence rate (s) were 0.5-13%. Malrotation was observed to have a higher incidence (10-44%) in OA babies with other gastrointestinal anomalies (VACTERL). Conclusion Newborns with OA appear to be at a higher risk (%) of having intestinal malrotation anomalies than healthy babies. Prospective studies are required to accurately quantify and define the ' true incidence ' of this association. Given the potential lethal consequences of midgut volvulus screening may be justified in OA babies. Consensus guidelines (DELPHI) exploring surgeons attitudes with regards management of ' asymptomatic malrotation ' disorders in OA newborns may further guide best practice.