OEIS complex: Prevalence, clinical, and epidemiologic findings in a multicenter Mexican birth defects surveillance program.

OEIS is the acronym of a malformations complex association including omphalocele, exstrophy of bladder or cloaca, imperforate anus, and spinal defects. It has a very low prevalence, ranging from 1/82,000 to 1/200,000 live births (LB). The etiology of OEIS is unknown. Virtually all cases are sporadic, and specific associated risk factors uncertain. OBJECTIVES: This study aimed to determine the prevalence, clinical spectrum, possible early pregnancy exposures, and demographic characteristics as potentially associated risk factors in a sample of Mexican cases. METHODS: We conducted a multihospital based case-control study on 12 cases with the OEIS complex identified in 1,195,020 LB born from January 1978 to December 2015. All comparisons performed were matching 1:3 the relation of cases and controls, respectively, considering the p-value of ≤.05 as statistically significant. RESULTS: The prevalence of OEIS was 1.004/100,000 (1/99,585) LB. The frequency of bladder/cloacal exstrophy was 75 and 25%, respectively, omphalocele was 83.3%, and imperforate anus and spinal defects, 75.0% each. Two pairs of twins discordant for the defect exhibited the severest OEIS phenotype. Except for the higher frequency of maternal first pregnancy trimester influenza infection, early perinatal mortality and a twining trend association, none other variable differed significantly. DISCUSSION: The prevalence of OEIS in our sample is within the highest reported worldwide. First-trimester pregnancy maternal influenza infection and twining emerge as associated risk factors for OEIS. Although twin zygosity was not defined, the observed severest phenotypes in twins endorse the hypothesis that OEIS and monozygotic twinning are features of disturbances on early blastogenesis.

Cloacal exstrophy: a single center experience.

OBJECTIVE: Cloacal exstrophy is an exceedingly rare and complex anomaly. The records of 23 patients treated in a tertiary care center with limited infrastructure were analyzed for anatomic types, associated anomalies, surgical procedures adopted, and the outcome. MATERIALS AND METHODS: There were 14 males. Seventeen babies were preterm with an average weight of 1.92 kg. The time of presentation, gestational age, birth weight, position of the hemibladders and associated malformations were noted. Reconstruction procedures involved dismantling of the hemibladders and primary turn in, tubularization of the bowel with an end colostomy, and reconstruction of the abdominal wall. Results of the primary surgical repair, bowel function, and outcome of secondary procedures were analyzed. RESULTS: The position of hemibladders was lateral in 11, upper confluent in 4 and lower confluent in 8. Associated anomalies were noted in 19 patients. Four patients presented late (>5 days). Five died preoperatively, all had major associated anomalies. Four of them were preterm with average weight of 1.4 kg. Two patients refused surgery. Single-stage surgical reconstruction was done in 15 patients. Five patients died postoperatively because of associated anomalies, prematurity, and sepsis. One patient is waiting for surgery. Six patients had follow-up at 3-42 months and are awaiting further reconstruction. Four patients were lost to follow-up. CONCLUSIONS: Prematurity, late presentation, and sepsis are the major causes of high mortality noted in this series. In our experience, single-stage reconstruction without osteotomy gives satisfactory results.

To split or not to split: colostomy complications for anorectal malformations or hirschsprung disease: a single center experience and a systematic review of the literature.

INTRODUCTION: The aim of this article is to identify the ideal type and location of colostomy in children with colorectal disease. PATIENTS AND METHODS: A retrospective case study of children with an anorectal malformation who received a colostomy, born between January 1990 and July 2012. Furthermore, a systematic literature search on colostomies in neonates with an anorectal malformation or Hirschsprung disease. Colostomies were classified as loop or split colostomies in the transverse or sigmoid colon. Outcome measures were mortality and complications such as prolapse, technical difficulties with the reconstruction, urinary tract infections, and others. RESULTS: The mortality rate in the 180 children with anorectal malformation was 6%, and none of them were directly related to stoma formation or closure. The overall complication rate was 23% and the specific rates for the two types of procedures and the two locations of the colostomy did not differ (p = 0.389 and p = 0.667, respectively). All prolapses (n = 22) occurred in loop colostomies in the transverse colon. One colostomy required revision because of insufficient length for the reconstruction. Urinary tract infections were not documented. A total of eight studies were included in the systematic review (1982-2011; 2,954 patients). Mortality ranged between 0.1 and 11%. Loop colostomies had more complications than split colostomies (63 vs. 45%; p = 0.007), mainly prolapse (18 vs. 6%; p < 0.001). Overall complication rate differed between transverse en sigmoid colostomies (62 vs. 51%, p = 0.006), and prolapse occurred more often in the transverse colon (23 vs. 7%; p < 0.001). Revision because of insufficient length during the reconstruction was needed in 0 to 6%. Two studies reported on urinary tract infections which are as follows: One showed no difference between loop or split colostomies, whereas the other showed frequent episodes of urinary tract infections in 64% of the loop colostomies. CONCLUSIONS: The complication to be avoided in transverse colostomies is prolapse and the surgical technique should be modified accordingly. The procedure of split sigmoid colostomy is meticulous, and the risk of insufficient length for the reconstruction remains.

PATTERN OF ANORECTAL MALFORMATIONS AND EARLY OUTCOMES OF MANAGEMENT AT MOI TEACHING AND REFERRAL HOSPITAL ELDORET-KENYA.

UNLABELLED: Objectives: To describe the anatomical sub-types of Anorectal malformations, their management and the early outcome at Moi Teaching and Referral Hospital (MTRH) over a 16 month period. Design: A prospective study. SETTING: MTRH, in the neonatal Unit and paediatric surgical wards for theinitial capture of patients and initial follow up. The Paediatric Surgical out-patient clinic was used for the subsequent follow ups. SUBJECTS: All infants diagnosed with ARM (Anorectal malformations) at MTRH from November 2011 to April 2013. MAIN OUTCOME MEASURES: Sub-types of the Anorectal malformations, coexisting abnormalities morbidity and mortality rates. RESULTS: There were 42 participants including 24 (57%) males and 18 (43%) females. Neonates presented at an average age of 4 ± 3, three days and older children presented on average age of 152 ± 118, three days. There were 30 (71%) neonates and 12 (29%) older infants. In males, the predominant sub-type was imperforate anus without a fistula found in ten participants (42% of males). In females, the predominant sub-type was recto-vestibular fistula found in 14 participants (78% of females). Mortality occurred in 13 (31%) participants among them ten (24%) had coexisting abnormalities. The main causes of morbidity were: colostomy complications in four (9.5%); wound,infections in one (5%); and wound dehiscence in one (5%). CONCLUSIONS: Patients with Anorectal malformations presented late at MTRH. The diagnosis at birth was missed in babies born at home as well as those delivered in health institutions.

The hidden mortality of imperforate anus.

BACKGROUND: Anorectal malformations (ARMs) affect 1 in 4000-5000 births and are a big challenge in western countries. However, little is known about ARMs in Africa. The aim of this study is to evaluate the incidence, treatment and outcome of ARMs in Malawi. MATERIALS AND METHODS: Over a 4-year period (2006-2009), data was extracted from patients up to and including the age of 5 years or less who underwent a colostomy, posterior sagittal anorectoplasty or colostomy closure. RESULTS: Of the data that could be retrieved 46 patients met the criteria of congenital ARMs; 65.2% were female (N = 30) and 34.8% were male (N = 16). The median distance from patient to the hospital was 79 km and the median age at presentation was 24 days. In female patients: The most common ARM was the vestibular fistula (N = 21; 70%), a recto-vaginal fistula was found four times, a cloaca was found three times and a perineal fistula or no fistula were both found once each. The most common ARM among boys was the recto-urethral fistula (N = 10). Two boys had no fistula. A perineal fistula and a recto-vesical fistula were both found once each. Nearly, half of the patients (N = 22) had complications. Complications occurred less often in the group, which lived closest to the Surgical Unit (25%). Associated anomalies were found in one patient. CONCLUSION: This study shows a skewed distribution of age at presentation and type of ARM. The most likely explanations are (1) the distance to the hospital: Because none of the male patients presented after 4 weeks and many may have passed away before arriving at the tertiary care centre; (2) lack of knowledge among primary caregivers since very few patients with rectoperineal fistulas were seen. The rate of complications was high, probably also related to advance age at presentation. Therefore, Malawi needs more awareness for earlier detection and quicker intervention.

Mutations in SPINT2 cause a syndromic form of congenital sodium diarrhea.

Autosomal-recessive congenital sodium diarrhea (CSD) is characterized by perinatal onset of a persistent watery diarrhea with nonproportionally high fecal sodium excretion. Defective jejunal brush-border Na(+)/H(+) exchange has been reported in three sporadic patients, but the molecular basis of the disease has not been elucidated. We reviewed data from a large cohort of CSD patients (n = 24) and distinguished CSD associated with choanal or anal atresia, hypertelorism, and corneal erosions--i.e., a syndromic form of CSD--occurring in ten families from an isolated form--i.e., classic CSD--presenting in seven families. Patients from both groups have a high risk of mortality due to immediate electrolyte imbalances and complications from long-term parenteral nutrition in the first years of life, but survivors can eventually adapt to partial or complete enteral nutrition. A genome-wide SNP scan was applied and identified a homozygous c.593-1G-->A splicing mutation in SPINT2, encoding a Kunitz-type serine-protease inhibitor, in one extended kindred with syndromic CSD. The same mutation and four distinct, homozygous or compound heterozygous mutations (p.Y163C, c.1A-->T, c.337+2T-->C, c.553+2T-->A) were identified in all syndromic patients. No SPINT2 mutations were found in classic-CSD patients. SPINT2 mutations were associated with loss of protein synthesis or failure to inhibit the serine protease trypsin in vitro. We delineate syndromic CSD as a distinct disease entity caused by SPINT2 loss-of-function mutations. SPINT2 mutations might lead to an excess of yet unknown serine protease activity in affected tissues.

Urorectal septum malformation sequence: a report of seven cases.

Urorectal septum malformation (URSM) sequence is an extremely uncommon anomaly. We report herein seven cases of URSM sequence that were identified after reviewing all autopsies conducted at our hospital over a period of 26 years (1981-2006). The URSM spectrum includes partial and full URSM sequences. Absent perineal and anal openings with ambiguous genitalia are included under 'full URSM sequence', and a single perineal or anal opening draining a common cloaca with an imperforate anus is called 'partial URSM sequence'. Of our seven cases of URSM, three were full URSM sequence and four were partial URSM sequence. Associated renal anomalies were found in all of the cases. Three cases had unilateral renal agenesis and one each had bilateral renal agenesis and bilateral renal dysplasia, respectively. The remaining two cases had unilateral renal agenesis with contralateral kidney showing features of cystic dysplastic kidney and renal hypoplasia, respectively. Congenital anomalies involving other organs were also found in some of the cases. The longest survival period in our series was 10 days, in accordance with the short survival period usually associated with URSM. Five of the patients were females, one was male, and the sex of one neonate could not be ascertained. One of the neonates was from a twin pregnancy; the other twin was normal.

Imperforate anus: long- and short-term outcome.

Anorectal malformations are common anomalies observed in neonates. Survival of these babies is currently achieved in most cases and improvements in operative technique, patient care, and better follow-up have led to improved functional results. A new, simplified classification system (Krickenbeck classification) and method of functional assessment has led to an improved understanding of these anomalies and has allowed for a better comparison of outcomes. Following successful anatomical repair and appropriate programs of bowel care, socially acceptable continence can be achieved in a majority of patients, especially those with an intact sacrum.

Descriptive epidemiology of anal atresia in Hawaii, 1986-1999.

BACKGROUND: Anal atresia is one of the more common birth defects affecting the gastrointestinal tract. This study examined the relationship between anal atresia and selected demographic and clinical factors in Hawaii. METHODS: Data were obtained from a population-based birth defects registry and included all cases of anal atresia identified in Hawaii among 1986-1999 deliveries. RESULTS: There were 124 cases of anal atresia, resulting in a rate of 4.38 per 10,000 live births and fetal deaths (95% confidence interval (CI) 3.65-5.23). Cases consisted of 115 (92.7%) live births, 6 (4.8%) fetal deaths, and 3 (2.4%) elective terminations. Chromosomal abnormalities were reported for 10 (8.1%) of the cases, 7 of which were trisomy 21. Family history of anal atresia was reported for 3 (2.4%) of the cases. No secular trend in anal atresia rates was identified (p=0.617). Risk of anal atresia was highest for the 25-29-year maternal age group and lower among younger and older maternal age groups. Risk for anal atresia was lower for females (relative risk (RR) 0.69 95% CI 0.51-0.91) and higher for live births with a birth weight less than 3,000 grams (RR 2.75, 95% CI 2.08-3.56) or less than 38 weeks' gestation (RR 3.90, 95% CI 2.88-5.15) and for multiple births (RR 3.34, 95% CI 1.44-6.57). Anal atresia rates did not vary significantly by maternal race/ethnicity, residence at delivery, gravidity, or prenatal care. CONCLUSIONS: Anal atresia risk was associated with maternal age, infant/fetus sex, birth weight, gestational age, and plurality but not maternal race/ethnicity, residence at delivery, gravidity, or prenatal care. Except for maternal age, these findings are consistent with the literature.

The treatment of imperforate anus: experience with 108 patients.

BACKGROUND/PURPOSE: The authors present their experience and results in the treatment of infants with imperforate anus over a 10-year period. Differences between these and previously published western results are noted and discussed. METHODS: One hundred eight patients with imperforate anus were treated from June 1988 to July 1998. Of these patients, 66 were boys and 42 were girls. Associated anomalies include congenital heart disease, anomalies of bone and cartilage, and Down's syndrome. Thirty-five patients with a low lesion received a limited posterior sagittal anorectoplasty. Seventy-one patients had a high lesion and received 3-staged operations including colostomy, posterior sagittal anorectoplasty, and takedown of colostomy. All patients underwent follow-up by the author. Postoperative anorectal function was evaluated based on the following criteria: ability to have voluntary bowel movement, soiling, and constipation. The duration of follow-up ranges from 6 months to 10 years. RESULTS: One patient died of multiple congenital anomalies after colostomy. One patient died of hyaline membranous disease. All except 2 patients had voluntary bowel movement. Three patients had soiling, and 19 suffered from constipation after operation. The constipation improved with medical treatment and time. Four patients who received the first operation at another hospital (3 underwent posterior sagittal anorectoplasty and 1 had cutback anoplasty) had problems with soiling. In these patients, soiling improved after redo posterior sagittal anorectoplasty. CONCLUSIONS: Utilizing the posterior sagittal operation described by Peña, most patients were continent and able to have voluntary bowel movements. Constipation occurred in a substantial number of patients with high-type lesions, but few of these patients needed medication or enemas. There were significantly fewer sacral and urogenital anomalies than have been reported in most western series. This may explain the excellent results.

Morbilidad y mortalidad en 142 casos de ano imperforado / Morbility and mortality in 142 cases of imperforate anus

Antecedentes. La mortalidad de esta anomalía congénita se reporta que está disminuyendo. Materiales y Métodos. Revisamos los expedientes de 142 casos de ano imperforado que fuerón asistidos en el Servicio de Cirugía del Hospital Dr. Robert Reid Cabral, en Santo Domingo, República Dominicana, durante el periodo enero 1990-diciembre 1995. Resultados. La edad de las madres 43 (32.8//) eran menores de 20 años, 37 estaban entre 20 y 24 años (28.2//), para un 61.0// de los casos. De los pacientes 89 (62.7//) pertenecían al sexo masculino y 53 (37.3//) al femenino. Los signos mas frecuentes de presentación fueron ausencia del orificio anal 38 casos (26.8//) y distensión abdominal 36 casos (25.4//) para un 52.2//. en 110 casos (77.5//) existía otra anomalía congénita asociada, la mas frecuente de ellas fístula rectales, 64 casos (45//). encontramos una mortalidad de 29//. De los fallecidos 33 (82.5//), eran masculinos (p>0.01), en 32 casos (71.1//) el ano imperforado era variedad alta (p< 0.01), el peso en 27 casos (67.5//) era menor de 3 kilos (p< 0.01). En 18 de los fallecidos (45//) el post-operatorio se complicó con septicemia. el factor de mejor pronóstico la presencia de las fístulas rectales, pues de los 40 casos que las presentaban solo fallecio uno para una mortalidad de 2.4// (p< 0.01). Comentario. Una mortalidad de 29// para esta anomalía congénita es muy alta y se deben tomar las medidas necesarias para reducirlas rapidamente. La presencia de fístulas rectales es de gran importancia para mejor pronóstico

Additional congenital defects in anorectal malformations.

UNLABELLED: From 1974 until 1995 a total of 264 (141 male, 123 female) patients born with an anorectal malformation (ARM) were referred to the University Hospital Nijmegen in the Netherlands. All additional congenital defects (ACDs) were registered. Special attention was paid to whether the ACDs take part in associations, syndromes, or sequences. One or more ACDs were observed in 67% of the patients. In decreasing order the defects concerned the uro-genital tract (43%), skeleton (38%), gastrointestinal tract (24%), circulation (21%), extremities (16%), face (16%), central nervous system (15%), respiratory tract (5%), and remaining defects (5%). Associations were observed in 49% of the patients mostly (in 44%) the Vertebral, Anorectal, Cardial, Tracheo-Esophageal, Renal and Limb association. In 5% of the patients syndromes were recognized. Sequences were seen in 2% of the patients. Remarkable is the combination of trisomy 21 and ARM without a fistula. The combination of ARM and the Zellweger syndrome has not been reported before. CONCLUSION: Almost all combinations of ARM and ACDs can be classified as an association, syndrome or sequence. ARM-causing agents affect males and females in equal numbers but lead to different expression in the sexes. The origin of the Omphalocele, Extrophia of the bladder, Imperforate anus, Sacral anomalies complex probably differs from that of other forms of ARM.

Imperforate anus in 700,000 consecutive liveborn infants.

We have studied the incidence of imperforate anus (anorectal atresia and stenosis) occurring in almost 700,000 consecutive liveborn infants in British Columbia (B.C.) from 1964-1982 using the records of a health surveillance registry which uses multiple sources of ascertainment. The estimated incidence rate was 1 in 2,524 live births (273 cases out of 689,118 consecutive liveborn infants). Data pertaining to sex ratio, additional anomalies, recurrence, and mortality were also analyzed over the period 1952-1983. Additional anomalies were common in infants with anorectal atresia and stenosis; approximately 6 out of 10 cases had anomalies outside the anorectal canal. Skeletal and limb anomalies were frequent, occurring in almost one-third of patients. Also common were genitourinary anomalies, occurring in one-third of patients. Details of associated anomalies occurring in these infants are given, and clinical implications arising from the study regarding the neonatal assessment of infants with imperforate anus are discussed.

Treatment and functional results of anorectal continence in children with imperforate anus.

The results of 172 patients with imperforate anus are reported. In these patients 215 operations where performed. The complications, lethality and the results concerning anorectal continence are analysed. The lethality was 58% in the risk group A (high risk), 27% in group B and 3% in C group (low risk). The overall lethality was 16.6%. Specific complications were anal stenosis (15.5%), relapse of anorectal or anovaginal fistulas (7%) and mucosa prolapse (5%). Anorectal continence was evaluated according to the Kelly score of continence and to our own electromanometric and clinical score. Five years after the operation 50% of the patients with high type, and 14% of those with low type imperforate anus remained incontinent. Only 15% of the high anal atresias and 43% of the low forms became continent. Thirty-five percent of the children with a high anorectal malformation and 43% with a low type acquired a partial continence with small amounts of soiling. The current surgical techniques to improve anorectal continence are discussed: Pickrell's gracilis transplantation and its modifications, the free muscle transplantation according to Hakelius and Grotte, the free smooth muscle transplantation according to Schmidt and the reverse smooth muscle transplantation according to Holschneider and Hecker. Clinical and electromanometrical as well as electromyographical results are presented.

Imperforate anus: an analysis of mortalities during a 25-year period.

A careful analysis of 53 deaths in a series of 284 patients suggests the following points are important in reducing risk: 1. Imperforate anus is a complicated lesion which should only be done by experienced surgeons in a large-volume pediatric surgical center in order to avoid the wrong choice of procedure. 2. A careful colostomy technique is essential to avoid herniation, prolapse, evisceration or obstruction. 3. Hyperchloremic acidosis from a large rectourinary fistula into the distal blind pouch of a colostomized high type lesion must be watched for. 4. The mucocutaneous junction (natural or surgical) must be kept free from stenosis to avoid fecalomas or enterocolitis-sepsis sequelae. 5. Neonatal pullthrough should be avoided as they carry an increased risk, make handling of fistulas difficult, and may lead to the placement of the bowel outside of the continence muscles.

Imperforate Anus: a five to thirty year follow-up perspective.

A twenty-five year experience with 284 patients with imperforate anus has been reviewed, with a 5 to 30 year assessment after surgical intervention. The following conclusions seem to be suggested by the study: 1. There was a 20% mortality overall, with the greatest number of these occurring in the Type III high lesions. Eighty per cent of the deaths were unrelated to imperforate anus and resulted from associated anomalies. 2. Eighty-eight per cent of the overall series achieved socially acceptable continence. Four out of five poor results occurred in the Type III high lesions. 3. Functional results achieved in imperforate anus surgery seem more closely related to the anatomy presented to the surgeon than by his choice of operative procedure. 4. Continence is more slowly achieved in an imperforate anus patient than in a normal child. It is an evolutionary process which seems to improve with age, being especially influenced by the social motivation that comes with puberty. 5. An appreciable number of patients with poor musculature for continence remain clean by promptly heeding the defection signals, by avoiding laxative foods, and by enforced constipation. 6. Secondary surgery when the levator sling muscles have been missed or partially bypassed seems to improve continence in a high percentage of patients.