Management of colonic complications of type IV Ehlers-Danlos syndrome: a systematic review and evidence-based management strategy.

AIM: Type IV Ehlers Danlos Syndrome (EDS) is a connective tissue disorder affecting approximately 1 per 100,000-200,000 people. Life expectancy is reduced secondary to spontaneous vascular rupture or colonic perforation. Surgery carries significant morbidity and mortality. While strategies to manage colonic perforation include primary repair with or without a defunctioning stoma, Hartmann's procedure, total abdominal colectomy with end ileostomy and ileorectal anastomosis, evidence is contradictory and has not previously been evaluated in order to form a treatment strategy. We aim to review the published literature and identify outcome data relating to operative management of colonic perforation in type IV EDS. METHODS: Pubmed, EM-BASE, Cochrane library and Google Scholar were searched with the following details: Ehlers Danlos Syndrome AND colonic surgery. The main outcome measure was re-perforation rates following colonic surgery on patients with type IV EDS. If the nature of surgery and follow up were reported, data were recorded in a SPSS database according to PRISMA guidelines. RESULTS: One hundred and nine operations have been described in 51 patients in 44 case series. There were 26 visceral re-perforations, 2 affecting the small intestine and 24 colonic. Survival analysis favoured total abdominal colectomy compared with operations where the colon was left in situ. CONCLUSIONS: Total abdominal colectomy with end ileostomy or ileorectal anastomosis are the safest strategies after colonic perforation in type IV EDS. Anastomotic leak rates are high. End colostomy is high risk for colonic re-perforation and anastomotic leak rates are extremely high. Restoration of colonic continuity should be avoided.

Bowel perforation in type IV vascular Ehlers-Danlos syndrome. A systematic review.

Spontaneous gastrointestinal (GI) perforation is a well-known complication occurring in patients suffering from Type IV vascular Ehlers-Danlos syndrome (EDS IV). The aim of the present study was to review the current literature on spontaneous GI perforation in EDS IV and illustrate the surgical management and outcome when possible. A systematic review of all the published data on EDS IV patients with spontaneous GI perforation between January 2000 and December 2015 was conducted using three major databases PUBMED, EMBASE, and Cochrane Central Register of Controlled Trails. References of the selected articles were screened to avoid missing main articles. Twenty-seven published case reports and four retrospective studies, including 31 and 527 cases, respectively, matched the search criteria. A case from our institution was added. Mean age was 26 years (range 6-64 years). The most frequent site of perforation was the colon, particularly the sigmoid, followed by small bowel, upper rectum, and finally stomach. The majority of cases were initially managed with Hartmann's procedure. In recurrent perforations, total colectomy was performed. The reperforation rate was considerably higher in the "partial colectomy with anastomosis" group than in the Hartmann group. Colonic perforation is the most common spontaneous GI perforation in EDS IV patients. An unexpected fragility of the tissues should raise the possibility of a connective tissue disorder and prompt further investigation with eventual management of these high-risk patients with a multidisciplinary team approach in dedicated centres. In the emergency setting, a Hartmann procedure should be performed.

Perforated Meckel's diverticulum in a very preterm baby revealed at birth.

Perforated Meckel's diverticulum (MD) in a preterm baby is very rare. We report a case of a very preterm baby, born at 29-week gestation, with a birth weight of 1400 g, admitted in the third hour of life to our intensive care unit (ICU) for respiratory distress syndrome with abdominal distention. An abdominal radiograph showed a pneumoperitoneum. Laparotomy revealed Meckel's perforation. The baby was discharged healthy at the age of 16 days. MD should be kept in mind as one cause of an acute abdomen in preterm neonates mimicking necrotizing enterocolitis. To our knowledge, our patient is the third reported case described in the literature and the first one revealed at birth.

Gastric perforation in an extremely low birth weight infant recovered with percutaneous peritoneal drainage.

Neonatal gastric perforation is an uncommon but life-threatening condition, which is mainly encountered in premature infants. Primary surgical repair is the principal mode of the treatment. Gastric perforation in neonates improving with percutaneous peritoneal drainage alone has not been described previously. Therefore, an extremely low birth weight infant is presented herein in order to emphasize that gastric perforation may improve with percutaneous peritoneal drainage alone. Isolated gastric perforations in newborn infants may be improved with percutaneous peritoneal drainage alone without need for primary surgical repair.

Neonatal and Infant Appendicitis.

Neonatal appendicitis is a rare disease with a high mortality rate. Appendicitis is difficult to diagnose in neonatal and infant populations because it mimics other more common conditions in these age groups. Furthermore, signs and symptoms of appendicitis are often nonspecific in nonverbal patients and a high index of suspicion is necessary to initiate the appropriate diagnostic work-up. The keys to successful management of appendicitis in infants include keeping the diagnosis on the differential in the setting of unexplained intra-abdominal sepsis, following a diagnostic algorithm in the work-up of infant abdominal pathology, and performing appendectomy once the diagnosis is confirmed.

In utero ileal volvulus and intestinal perforation associated with enteric duplication cyst presenting with preterm labour and acute abdomen in newborn.

Enteric duplication cysts are a rare cause of intestinal obstruction in the neonatal period. We present the unusual case of an in utero ileal volvulus secondary to an enteric duplication cyst causing an acute abdomen in a 35-week estimated gestational age newborn female delivered to a mother in preterm labour.

Peritoneal drainage or laparotomy for neonatal bowel perforation? A randomized controlled trial.

OBJECTIVE: To determine whether primary peritoneal drainage improves survival and outcome of extremely low birth weight (ELBW) infants with intestinal perforation. SUMMARY BACKGROUND DATA: Optimal surgical management of ELBW infants with intestinal perforation is unknown. METHODS: An international multicenter randomized controlled trial was performed between 2002 and 2006. Inclusion criteria were birthweight >or=1000 g and pneumoperitoneum on x-ray (necrotizing enterocolitis or isolated perforation). Patients were randomized to peritoneal drain or laparotomy, minimizing differences in weight, gestation, ventilation, inotropes, platelets, country, and on-site surgical facilities. Patients randomized to drain were allowed to have a delayed laparotomy after at least 12 hours of no clinical improvement. RESULTS: Sixty-nine patients were randomized (35 drain, 34 laparotomy); 1 subsequently withdrew consent. Six-month survival was 18/35 (51.4%) with a drain and 21/33 (63.6%) with laparotomy (P = 0.3; difference 12% 95% CI, -11, 34%). Cox regression analysis showed no significant difference between groups (hazard ratio for primary drain 1.6; P = 0.3; 95% CI, 0.7-3.4). Delayed laparotomy was performed in 26/35 (74%) patients after a median of 2.5 days (range, 0.4-21) and did not improve 6-month survival compared with primary laparotomy (relative risk of mortality 1.4; P = 0.4; 95% CI, 0.6-3.4). Drain was effective as a definitive treatment in only 4/35 (11%) surviving neonates, the rest either had a delayed laparotomy or died. CONCLUSIONS: Seventy-four percent of neonates treated with primary peritoneal drainage required delayed laparotomy. There were no significant differences in outcomes between the 2 randomization groups. Primary peritoneal drainage is ineffective as either a temporising measure or definitive treatment. If a drain is inserted, a timely "rescue" laparotomy should be considered. Trial registration number ISRCTN18282954; http://isrctn.org/

Meconium peritonitis.

Meconium peritonitis can have a wide range of presentations. This report discusses two cases that have recently appeared in our neonatal intensive care unit. The first report discusses the case of a meconium pseudocyst in a preterm infant. The second case reports on a newborn baby with a healed bowel perforation during the prenatal period. Finally, a brief discussion of meconium peritonitis is also included.

Prenatal appendiceal perforation: a case report.

A neonate is reported with the meconium cyst form of meconium peritonitis secondary to appendiceal perforation, which occurred prior to birth.

Microperforation of a duodenal diaphragm as a cause of paradoxical gas in congenital duodenal obstruction.

An infant who presented with signs of duodenal atresia had proximal duodenal obstruction by upper gastrointestinal barium study, but had a small amount of air in the distal bowel. Exploration showed an annular pancreas and microperforation of a duodenal diaphragm. Prior to concluding that pancreaticobiliary duct anomalies are the path of air into the distal bowel in patients with duodenal atresia, microperforation of a duodenal diaphragm must be excluded.

Bladder duplication with one exstrophy and one cloaca.

Bladder duplication is a rare anomaly. Less than 100 cases of all types have been described in the literature. When duplication of the bladder occurs, it has previously been described as a mirror image or as a septate bladder. A newborn female presented with what appeared to be a complete bladder exstrophy, a large ruptured omphalocele with perforated large bowel, an imperforate anus, and a bifid clitoris. Urine was seen emanating from various sites: the bladder mucosa, the mucous fistula constructed at the time of the colostomy, and the left hemiclitoris. The anatomic puzzle was resolved when multiple studies disclosed the problem to be a bladder duplication. The bladder on the anterior abdominal wall was exstrophied, the intraabdominal bladder was a cloaca, and the left hemiclitoris contained a phallic urethra, which drained the intraabdominal bladder. Total correction with normal function was obtained. This patient demonstrates that bladder duplication may present in various ways.

Segmental defect of the intestinal musculature of a newborn: evidence of acquired pathogenesis.

Two cases of premature newborns with a segmental defect of the intestinal musculature are presented. The clinical diagnoses were intestinal obstruction and perforation, respectively. Emergency laparotomy was performed. In the first case, this showed a dilated loop of ileum and proximally dilated small bowel. The second case had ileal perforation with marked pneumoperitoneum. Pathological examination showed multifocal partial or complete absence of the muscularis propria, with relative preservation of the remaining components of the bowel wall in both cases. In addition, foci of recent muscular necrosis was noted in case 1, and early replacement fibrosis in case 2. These findings suggest that the muscle defect was secondary to muscle injury rather than a primary absence of muscle. The different theories of pathogenesis are discussed.

Neonatal gastrointestinal perforations.

Neonatal gastrointestinal perforation has been associated with mortality rates of 40% to 70%. Over the past 20 years, 81 infants (46 boys and 35 girls) were treated for a gastrointestinal perforation at this institution. Perforation occurred from birth to 50 days (average, 8.2 days). Etiologies included necrotizing enterocolitis (NEC) (68%), meconium ileus (10%), and idiopathic gastric perforation (7%). Seventy-six infants underwent surgical exploration and five infants, considered too small or too sick to withstand a laparotomy, were treated with peritoneal lavage only. There were 29 deaths, an overall mortality of 36%. Ninety percent of the death occurred in patients with NEC, while all patients with gastric perforations survived. There has not been a significant improvement in survival in recent years, partly because of an increase in the proportion of NEC-related perforations. However, there is a narrowing of the mortality gap between low birth weight and normal weight infants. As the risk inherent to laparotomy in neonates is decreasing, other factors, such as the underlying etiology or the site of perforation, play a more important prognostic role.

[Meconium peritonitis: intrauterine follow-up--postnatal outcome]. / Mekoniumperitonitis: Intrauteriner Verlauf--postnatales Outcome.

In nine patients with meconium peritonitis prenatal ultrasonographic findings were correlated with the clinical course and outcome. Ultrasound findings included polyhydramnion (n = 4), ascites (n = 4), disseminated (n = 3) and solitary echogenic areas (n = 1), echopoor cystic areas (n = 3) and echogenic-echopoor solitary areas (n = 1). Intra-abdominal calcifications were found in five patients before delivery. Eight neonates survived and were subsequently followed up, one fetus died in utero. Four of the eight survivors required surgery, namely for meconium ileus (n = 1), perforation secondary to intestinal volvulus (n = 2) and inguinal hernia associated with prenatal rubella infection (n = 1). Three patients were healthy, one patient required drainage of pleural effusion and respirator therapy but recovered without further problems. Cystic fibrosis was diagnosed in the patient with meconium ileus. Postnatal outcome could not be predicted from the prenatal sonographic findings.

[Idiopathic gastric perforation in the newborn. Report of 2 cases]. / Perforation gastrique idiopathique du nouveau-né. A propos de deux cas.

We report two cases of spontaneous neonatal gastric perforation in neonates born at term. The first neonate experienced on the second day of life a shock related to gastric perforation and he died 24 hours postoperatively from multisystemic failure. In the second case, gastric perforation occurred in a twin on the third day of life. Total gastrectomy was performed and the baby was well at the age of 13 months. Among the different causes of neonatal gastric perforation reported in the literature, none was found in our two cases. To our knowledge, our second case is the fourth case of survival after total gastrectomy for spontaneous neonatal gastric perforation described in the literature.

Meconium pseudocyst with particular pathologic findings: a case report and review of the literature.

Meconium peritonitis is a sterile chemical peritonitis caused by bowel perforation with intraperitoneal extravasation of the meconium in utero. When the inflamed intestinal loops become fixed, meconium peritonitis leads to a cystic cavity with a fibrous wall, and the result is termed cystic-type meconium peritonitis. On the contrary, a meconium pseudocyst has a muscle layer continuous with the normal intestine and is distinguished from cystic-type meconium peritonitis based on the histopathologic findings. This report describes the rare case of a neonate complicated by a meconium pseudocyst, which was successfully treated with 1-stage resection and primary anastomosis. There have been few cases of meconium pseudocysts reported in the literature. Meconium peritonitis should be considered in the differential diagnosis in patients who develop large abdominal cysts with air and fluid content. Cystic-type meconium peritonitis is usually treated using drainage with subsequent elective surgery. However, for a meconium pseudocyst, 1-stage intestinal resection with primary anastomosis may be recommended. A meconium pseudocyst may be treatable using 1-stage resection based on histopathologic features.

Surgical management of extremely low birth weight infants with neonatal bowel perforation: a single-center experience and a review of the literature.

BACKGROUND: Necrotizing enterocolitis (NEC) and focal intestinal perforation (FIP) are major causes of morbidity in infants with extremely low birth weight (ELBW). OBJECTIVE: To evaluate the surgical procedures applied, and the survival and long-term outcome of ELBW infants with NEC and FIP in a single-center study. METHODS: Inborn and outborn ELBW infants (<1000 g) with NEC and FIP were analyzed retrospectively from 2002 to 2007. Data collected include surgical procedures, survival as well as complications, length of partial parenteral nutrition and hospital stay. The short-term and long-term outcomes after 2-7 years were assessed and compared with a matched control group. RESULTS: Out of 280 ELBW infants, 28 underwent surgery, 19 because of FIP and 9 for NEC. Fourteen infants in the FIP group were treated with primary laparotomy and 5 with peritoneal drainage (PD). In the NEC group, only 1 infant was treated with PD. PD was used for unstable patients and was always followed by secondary laparotomy after stabilization. Five of 28 (18%) surgically treated ELBW infants and 4 (14%) matched controls died. The following complications occurred in the surgical group: complete (n = 1) or minor wound dehiscence (n = 4), stoma prolapse (n = 5), parastomal hernia (n = 2), stoma fistula (n = 1), and wound infection (n = 2). Dependency on parenteral nutrition was significantly shorter in infants with FIP, while there were no differences in time to stoma closure and length of hospital stay between those with FIP and those with NEC. Eleven of 23 (47.8%) surviving patients with FIP or NEC showed developmental delay, compared with 9 of 24 (37.5%) in the controls. CONCLUSIONS: The management of EBLW infants with NEC and FIP remains challenging. Our treatment approach was associated with low mortality. Developmental delay seems to be caused by extreme prematurity rather than NEC- or FIP-related bowel perforation.

Rare case of disseminated neonatal zygomycosis mimicking necrotizing enterocolitis with necrotizing fasciitis.

A set of monochorionic male twins presented with intestinal perforation. The smaller twin was diagnosed with necrotizing enterocolitis followed by sepsis, disseminated intravascular coagulation, and necrotizing fasciitis of the abdominal wall. The infant died on the fourth day after surgery, 16 days after birth. Surgical specimens and autopsy revealed a disseminated zygomycotic infection. Gastrointestinal zygomycosis followed by necrotizing fasciitis in premature infants is a rare condition and mimics necrotizing enterocolitis clinically. Necrotizing fasciitis after gastrointestinal zygomycosis in premature infants is considered a poor prognostic sign. Gastrointestinal zygomycosis should be considered in the differential diagnosis of necrotizing enterocolitis.