Currarino syndrome is a hereditary syndrome characterized by the triad of a sacral bony defect, presacral mass and anorectal malformation. We retrospectively reviewed 13 Currarino syndrome patients who were treated in our center between 1997 and 2010. Demographic data, initial symptoms, initial diagnosis, pathologic diagnosis of presacral mass, associated anomalies and managements were analyzed. There were 8 boys and 5 girls. Four patients were diagnosed as Currarino syndrome immediately after birth with failure of passage of meconium and abdominal distension. Four patients underwent surgery for imperforate anus immediately after birth and were diagnosed as Currarino syndrome later and underwent reoperation. Three patients were diagnosed during work-up and management with of the tentative diagnosis of Hirschsprung's disease. Diagnosis of the remaining two patients was at the age of 26 months and 9 years and anorectal malformation was not associated. Twelve patients showed hemi-sacrum and one patient showed bilateral sacral subtotal agenesis. Two patients without anorectal malformation underwent presacral mass excision, untethering of spinal cord and repair of myelomeningocele. Six out of 8 patients, excluding 3 that expired or were lost to follow up, with anorectal malformation underwent colostomy, presacral mass excision, untethering of spinal cord, repair of myelomeningocele, posterior sagittal anorectoplasty and colostomy repair. One patient underwent only posterior sagittal anorectoplasty after colostomy. One waits the scheduled operation only with Hegar dilatation. Pathologic examation of presacral masses showed myelomeningoceles in 4 patients, lipomyelomeningoceles in 3 patients and dermoid cyst in one patient. Teratoma was combined in 2 patients. Eight patients needed neurosurgical operation for spinal cord problems. Seven patients had urologic anomalies and two of them underwent operation. Currarino syndrome should be considered as a differential diagnosis in pediatric patients with abdominal distension, constipation and anorectal malformation. For proper evaluation and treatment, a multi-disciplinary approach is recommended.
Anal Canal ; Anus, Imperforate ; Colostomy ; Constipation ; Dermoid Cyst ; Diagnosis, Differential ; Digestive System Abnormalities ; Dilatation ; Hirschsprung Disease ; Humans ; Lost to Follow-Up ; Meconium ; Meningomyelocele ; Parturition ; Rectum ; Reoperation ; Retrospective Studies ; Sacrum ; Spinal Cord ; Syringomyelia ; Teratoma

Adult presentation of a rectocutaneous fistula with imperforate anus is rare. We report the case of a 22-year-old man who presented with an anorectal malformation and a rectocutaneous fistula. The patient complained of faecal matter passing through the external orifis of a fistula located at the distal part of his scrotum. He was continent for solid faeces, but had leakage of flatus and faecal soiling. He had no other associated anomaly. The patient subsequently underwent a surgical procedure where anal transposition was done. Postoperative recovery was uneventful, and the patient was fully continent at control examination.
Anal Canal ; abnormalities ; Anorectal Malformations ; Anus, Imperforate ; diagnosis ; surgery ; Digestive System Surgical Procedures ; Humans ; Male ; Rectal Fistula ; diagnosis ; surgery ; Scrotum ; surgery ; Young Adult

OBJECTIVETo investigate the relationship between the morphological features of different types of neuronal intestinal malformations (NIM) and their postoperative complications.

METHODSThe data of morphological and clinical features of 324 cases with NIM were analyzed retrospectively.

RESULTSIn all 324 patients, 210 cases were Hirschsprung's disease (HD), 38 intestinal neuronal dysplasia (IND), 45 mixed HD/IND, 8 hypoganglionosis, 22 combined HD/hypoganglionosis and 1 immaturity of ganglion cells. The percentages of normal neuron in bowel of different NIM were 88.1%, 24.4%, 18.4%, 4/8, 27.7% and 0/1 in HD, HD/IND, IND, hypoganglionosis, HD/hypoganglionosis and immaturity of ganglion cells respectively. There were totally 46 cases complicated with recurrent postoperative enterocolitis (EC). Incidence of recurrent postoperative EC in HD patients was 6.7% while in IND/HD and IND patients was 35.6% and 28.9%, respectively. Incidences of EC in cases with the residual IND margins and with the normal margins were 38.2% and 8.7%, respectively. Incidence of EC in cases with transanal endorectal pull-through procedure and with transabdominal procedure was 18.0% and 8.3%, respectively. Nine cases underwent another procedure because of severe persistent constipation or EC after operation, including 4 cases HD/IND, 1 case IND, 3 cases HD and 1 case HD/hypoganglionosis.

CONCLUSIONSNeuron distribution is inconsistent with pathology of NIM. Postoperative EC are rare in the patients only with isolated HD. Furthermore, margins with residual IND and transanal endorectal pull-through procedure are risk factors to recurrent EC. However, the extension of excision about IND is uncertain and need further study.

Adolescent ; Child ; Child, Preschool ; Digestive System Abnormalities ; complications ; pathology ; surgery ; Enteric Nervous System ; abnormalities ; pathology ; Female ; Hirschsprung Disease ; complications ; pathology ; surgery ; Humans ; Infant ; Male ; Postoperative Complications ; etiology ; Retrospective Studies

A clinical review was done on 343 infants and children diagnosed and operated at the Department of Pediatric Surgery in Keimyung University, Dong San Medical Center for congenital gastrointestinal anomalies from January, 1988 to December, 1991. The results are summarized as follows; The most prevalent age group of congenital gastrointestinal anomaly was within first week after birth, and infants within 3months occupied 70% of total, and male to female ratio was 2:1. 2) The moat common lesion of congenital gastrointestinal anomalies was stomach with 87cases (25.4%), followed by anus with 80 cases (23.3%), colon with 63 cases (18.4%) and biliary tract with 38 cases(11.1%). 3) The most common congenital anomaly was congenital hypertophic pyloric stenosis with 87 cases (25.4%), followed by imperforate anus with 70 cases (20.4%), congenital megacolon with 63 cases (18.4%), and prevalent age was 2 week-3month, first week after birth, 1month-3year. 4) The incidence of common congenital gastrointestinal anomalies were mostly higher in male than in female but choledochal cyst was higher in female than in male. 5) Associated anomalies were observed in 14 cases (4%) of total cases, duodenal atresia was seen the highest rate of the associated anomalies and the most common associated anomaly was annular pancreas, followed by Down syndrome, congenital diaphragmatic hernia.
Anal Canal ; Anus, Imperforate ; Biliary Tract ; Child ; Choledochal Cyst ; Colon ; Down Syndrome ; Female ; Hernia, Diaphragmatic ; Hirschsprung Disease ; Humans ; Incidence ; Infant ; Male ; Pancreas ; Parturition ; Pyloric Stenosis ; Stomach

Hirschsprung's disease (HD) is usually diagnosed in the newborn period and early infancy. The common presentation of HD in newborns consists of a history of delayed passage of meconium within the first 48 hours of life. The differential diagnosis in newborns is one of the clinical challenges of this disorder. A number of medical conditions which cause functional obstruction of the intestines are easily excluded. Neonates with meconium ileus, meconium plug syndrome, distal ileal atresia and low imperforate anus often present in a manner similar to those with HD in the first few days of life. Abdominal radiographs may help to diagnose complete obstruction such as intestinal atresia. Microcolon on contrastenema can be shown in cases with total colonic aganglionosis, ileal atresia or meconium ileus. Suction rectal biopsy or frozen section biopsy at operation is essential for differential diagnosis in such cases. HD is also considered in any child who has a history of constipation regardless of age. Older children with functional constipation may have symptoms that resemble those of HD and contrast enema is usually diagnostic. However, children with other motility disorders generally referred to as chronic idiopathic intestinal pseudoobstruction present with very similar symptoms and radiographic findings. These disorders are classified according to their histologic characteristics.; visceral myopathy, visceral neuropathy, intestinal neuronal dysplasia (IND), hypoganglionosis, immature ganglia, internal sphincter achalasia. Therefore, the workup for motility disorders should include rectal biopsy not only to confirm the presence of ganglion cells but also evaluate the other pathologic conditions.
Anus, Imperforate ; Biopsy ; Child ; Constipation ; Diagnosis, Differential* ; Enema ; Esophageal Achalasia ; Frozen Sections ; Ganglia ; Ganglion Cysts ; Hirschsprung Disease* ; Humans ; Ileus ; Infant, Newborn ; Intestinal Atresia ; Intestinal Pseudo-Obstruction ; Intestines ; Meconium ; Neurons ; Suction

Biliary atresia is a progressive obliterative cholangiopathy, but its actual causes are still unknown. However, a number of factors, such as developmental malformation, viral infection, toxicity of bile constituents and an anatomical abnormality in the hepatobiliary system, have been considered. Herein, two very unusual cases of biliary atresia, associated with ileal atresia, are reported. The pathogenesis of this particular type of biliary atresia is still a matter for debate.
Bile ; Biliary Atresia* ; Intestinal Atresia

A ring chromosome 13 was found in newborn female with multiple congenital anomalies suggestive of 13q-syndrome. She presented with intrauterine growth retardation, agenesis of thumbs, craniofacial anomalies, congenital heart diseases, CNS, gastrointestinal anomalies which are imperforate anus and jejunal atresia and sensorineural hearing loss. To our knowledge, there have been several reports on 13q-syndrome with congenital megacolon or imperforate anus at home and abroad. However, the case presenting with jejunal atresia and hearing loss has not been described previously in the country. We report this case with a brief review of the correlation between clinical features and the observed chromosome abberation.
Anus, Imperforate ; Female ; Fetal Growth Retardation ; Hearing Loss* ; Hearing Loss, Sensorineural ; Hearing* ; Heart Diseases ; Hirschsprung Disease ; Humans ; Infant, Newborn ; Intestinal Atresia* ; Ring Chromosomes* ; Thumb

OBJECTIVETo evaluate the efficacy of bowel plication combined with early enteral nutrition (EEN) in the enhanced recovery after surgery(ERAS) of jejunal atresia (JA) neonates.

METHODSBetween January 2005 and January 2014, 58 neonates with JA underwent surgical treatment in Children's Hospital of Nanjing Medical University. Their clinical data, including operation procedures, ages, birth weight, concomitant diseases, age at surgery, hospital stay, total parenteral nutrition (TPN), postoperative intestinal function recovery (the time to the first oral feeding and the time to oral feeding volume reaching 150 ml·kg·d), complications and reoperation, were retrospectively analyzed.

RESULTSAccording to the surgical procedures, the 58 neonates were divided into three groups: control group(18 cases, undergoing atretic segments resection and primary anastomosis), bowel plication group(19 cases, undergoing bowel plication after atretic segments resection and primary anastomosis) and bowel plication combined with EEN group (21 cases, undergoing bowel plication combined with EEN). No significant differences of ages, birth weight, age at operation, and concomitant diseases were found among 3 groups (all P>0.05). The time of hospital stay, the time to the first oral feeding, the time to oral feeding volume reaching 150 ml·kg·d, and the time of TPN in bowel plication group were significantly shorter than those of control group [(19.3±4.4) d vs. (22.7±3.1) d, t=2.696, P=0.011; (9.8±3.3) d vs. (12.5±3.0) d, t=2.630, P=0.013; (18.5±4.1) d vs. (21.5±2.5) d, t=2.726, P=0.011; (13.1±2.9) d vs. (15.0±2.3) d, t=2.219, P=0.033]. However, above parameters of bowel plication combined with EEN group were significantly shorter than those of bowel plication group [(15.3±3.5) d vs. (19.3±4.4), t=4.120, P=0.003; (7.7±2.2) d vs. (9.8±3.3) d, t=2.428, P=0.020; (14.8±2.5) d vs. (18.5±4.1) d, t=3.752, P=0.001; (9.5±3.0) vs. (13.1±2.9) d, t=4.370, P=0.000].

CONCLUSIONThe bowel plication combined with EEN contributes to the early use of intestinal function, shorten the time to the first oral feeding, and reduces the use of TPN, which can improve the recovery of jejunal atresia neonates.

Anastomosis, Surgical ; Comparative Effectiveness Research ; Defecation ; Digestive System Surgical Procedures ; methods ; Enteral Nutrition ; methods ; Humans ; Infant, Newborn ; Intestinal Atresia ; rehabilitation ; surgery ; Jejunum ; abnormalities ; surgery ; Length of Stay ; Parenteral Nutrition, Total ; Postoperative Period ; Retrospective Studies

Gastric duplication cysts and dorsal pancreatic agenesis are rare congenital anomalies, and little is known of the association between these two anomalies. A 17-year-old woman was admitted with a cystic lung mass detected as part of a health screening program. Chest computed tomography (CT) showed a cystic lung lesion in the right lower lobe and an incidental cystic abdominal mass. She had no specific symptoms or signs. Abdominal CT and endoscopic ultrasonography (EUS) revealed a 9x7x5.5-cm cystic mass and agenesis of the body and tail of the pancreas. The cyst was removed successfully using laparoscopic gastric wedge resection. Microscopically, the muscle coat of the cyst wall was fused with the muscle layer of the stomach. Therefore, the cystic mass was diagnosed as a gastric duplication cyst. We present a patient with a pulmonary cystic lesion associated with two congenital anomalies: a gastric duplication cyst and dorsal pancreatic agenesis.
Adolescent ; Digestive System Abnormalities ; Endosonography ; Female ; Humans ; Lung ; Mass Screening ; Muscles ; Pancreas ; Stomach ; Thorax

Duplications of the gastrointestinal tract are rare congenital malformations that are usually present during the first decade of life. However, a smaller number of cases may remain occult until adulthood. Overall, the colon is the least common site of congenital gastrointestinal duplications. Colonic duplications can present with symptoms of diverticulitis and can be confused with acquired giant cysts or masses. We present a rare case of a duplication cyst of the colon in a female adult. Although the preoperative evaluations, including an abdominal CT scan and colonoscopy, were suggestive of a gastrointestinal tumor of the colon, the final diagnosis was a colonic duplication cyst based on the histopathologic examination of the resected specimen. Even if intestinal duplication cysts are uncommon, they should be considered in the differential diagnosis of intestinal masses.
Adult ; Colon ; Colonoscopy ; Diagnosis, Differential ; Digestive System Abnormalities ; Diverticulitis ; Female ; Gastrointestinal Stromal Tumors ; Gastrointestinal Tract ; Humans