Riñón pélvico fusionado con uréter único, hidrometrocolpos y ano imperforado: conjunción de malformaciones infrecuentes en una adolescente / Pancake kidney with a single ureter, hydrometrocolpos, and imperforate anus: a set of uncommon malformations in a female adolescent

Una niña de 11 años de edad con antecedentes de ano imperforado, infección urinaria y episodios de constipación intermitentes se presentó a la consulta con cólicos abdominales y náuseas de una semana de evolución. Estudios radiológicos revelaron hidrometrocolpos y fusión renal pélvica con uréter único hidronefrótico. El examen vaginal evidenció un tabique transverso no permeable. Se evacuó temporalmente la colección con resolución de los síntomas. La paciente fue programada para cirugía vaginal reconstructiva definitiva. Se destaca en este caso no solo la asociación de malformaciones infrecuentes, sino una sintomatología muy común en la práctica pediátrica a causa de una patología rara vez considerada en el diagnóstico diferencial, y la importancia de una evaluación precoz y completa de este tipo de malformaciones para un tratamiento oportuno.

An 11-year-old girl with a history of imperforate anus, urinary tract infection, and intermittent episodes of constipation presented with abdominal pain and nausea for 1 week. The x-rays revealed hydrometrocolpos and fused pelvic kidney with a single hydronephrotic ureter. The vaginal examination revealed a non-permeable transverse vaginal septum. The collection was temporarily drained and symptoms resolved. The patient was scheduled for definitive vaginal reconstructive surgery. In this case, it is worth noting the association of infrequent malformations and also the signs and symptoms very common in pediatric practice due to a pathology rarely considered in the differential diagnosis, and the importance of an early and complete assessment of this type of malformations for a timely treatment.

Atresia esofágica tipo III associada a ânus imperfurado: um relato de caso / Esophageal atresia type III associated to imperforate anus: a case report

Introdução: As malformações congênitas são defeitos que ocorrem durante o desenvolvimento embrio-fetal, principalmente entre a terceira e oitava semana de gestação, podendo ser suspeitado no período pré-natal. A atresia de esôfago com ou sem fístula traqueoesofágica pode estar associada a outras anomalias congênitas, como o ânus imperfurado, o qual faz parte uma síndrome denominada malformação anorretal. Objetivo: discutir o caso de um recém-nascido (RN) portador de atresia de esôfago tipo III e ânus imperfurado, bem como associar suas ocorrências simultâneas. Relato de caso: paciente do sexo masculino, advindo de uma gestação gemelar complicada por pré-eclâmpsia, apresentava ao nascimento ausência do reflexo de busca e sucção, bradicardia e cianose central. Foi diagnosticado com ânus imperfurado e atresia esofágica. Foram realizados cirurgia de Colostomia em Duas Bocas e tratamento cirúrgico da atresia de esôfago. O paciente ficou 48 dias em incubadora com intubação orotraqueal e ventilação mecânica por 26 dias. Resultado: a programação pós- alta indicada foi o acompanhamento com cirurgião pediátrico e neurocirurgião, tendo evoluído bem e aguardando anorretoplastia. Conclusão: o rápido diagnóstico é tão necessário, nesses casos, quanto as abordagens cirúrgicas. O apoio psicológico aos familiares é de extrema importância, pois visa a melhor aceitação da família frente ao caso, propiciando dessa forma, melhores prognóstico e tratamento do paciente.

Introduction: Congenital malformations are defects that occur during embryo-fetal development, especially between the third and eighth week of pregnancy, and may be suspected in the prenatal period. Esophageal atresia with or without tracheoesophageal fistula may be associated with other congenital anomalies, such as the imperforate anus, which is part of a syndrome called anorectal malformation. Objective: to discuss the case of a newborn (NB) with type III esophageal atresia and imperforate anus, as well as to associate its simultaneous occurrences. Case report: male patient, resulting from a twin pregnancy complicated by pre-eclampsia, had at birth the absence of the search and suction reflex, bradycardia and central cyanosis. He was diagnosed with imperforate anus and esophageal atresia. Double-barrel colostomy surgery and esophageal atresia surgery were performed. The patient spent 48 days in an incubator with orotracheal intubation and mechanical ventilation for 26 days. Results: the post-discharge schedule indicated was for follow-up with a pediatric surgeon and neurosurgeon. Patient evolved well and awaits anorectomy. Conclusion: rapid diagnosis is as necessary in these cases as surgical approaches. Psychological support to family members is extremely important, as it aims at better family acceptance in the case, thus providing better prognosis and treatment for the patient.

The colostomy complications in anorectal malformation: a retrospective study

Background: A colostomy is a surgical approach that creates an opening for the colon, or/and large intestine through the abdomen. Anorectal malformations are a group of abnormalities of the rectum and anus that are present at birth. Objective: To analyze the common complications of colostomy in anorectal formations. Methods: This was a retrospective study conducted on 50 temporary colostomies performed in children at the Surgical Department of the Abu Ghraib General Hospital in the period from January 2018 to January 2020. Information was collected regarding the patients' age, sex, body weight, associated anomalies, colostomy types and sites, and the indications and complications of colostomies. Results: A total of 44 (88%) cases were reported in the children's 1st month of life. The ratio of male to female was 1:1. Pelvic colostomy was performed in 48 (96%) patients, as 40 (80%) children underwent a loop-type, and 8 (16%) patients underwent doublebarrel colostomy. Transverse colostomy was performed on two patients. Prolapse occurred in 50% of the patients, and skin excoriations occurred in 22% . A total of 10% of the children developed sepsis. Bleeding was seen in 4% of the children after colostomy performance. Stenosis presented in 6% of the children, and this was corrected by repeated dilatation and re-fashioning. Obstruction of intestines was observed in one patient. The retraction developed in 6% of patients. Conclusions: Imperforate anus was themost common indication for stoma formation in the pediatric age group. Loop colostomy was the most common type used, and it had the highest rate of complications. Prolapses and skin excoriation were the most common complications found. (AU)

Demographic Factors, Autopsy Findings and Syndrome Diagnosis in Congenital Anomalies with Imperforate Anus

Introduction: Imperforate anus is a relatively rare birth defectin which rectum is malformed. Cases of isolate imperforateanus exist, but most commonly, this condition is found as apart of syndromes and congenital anomalies. Therefore, weconducted a prospective fetal autopsy study to know theassociation of imperforate anus in congenital anomalies,analyse the demographic factors and correctly diagnose thesyndromes.Materials and Methods: Perinatal deaths with congenitalanomalies over a period of 1 year at our institute wereincluded in the study. Standard protocol for autopsy wasfollowed in each case. External examination andanthropometric measurements were carried out. Autopsy wasconducted according to Virchow’s technique by giving amodified “Y” shaped incision starting from below the ears tosymphysis pubis encircling umbilicus on the left side. Boththorax and abdomen were opened. Internal examinationincluding viscera was done and samples were collected forhistopathological examination. Results were noted andanalysed.Results: Out of the 57cases with congenital anomalies, 9cases were found to be associated with imperforate anuswhich included VACTERL anomaly with Prune Belly syndrome,Edward’s syndrome, Fraser syndrome, OEIS complex (2cases), Ellis-Van-Creveld syndrome, TRAP baby andGastroschisis (2 cases).Conclusion: Autopsy has an important role in the diagnosis ofsyndromes and associations with imperforate anus. Our studyalso pointed at the contribution of demographic and maternalrisk factors towards these syndromes.

Long-term efficacy analysis of laparoscopic-assisted anorectoplasty for high and middle imperforate anus / 中华胃肠外科杂志

Objective@#To explore the long-term efficacy of laparoscopic-assisted anorectoplasty and conventional anorectoplasty in the treatment of children with high and middle anal atresia.@*Methods@#A retrospective cohort study was used. Inclusion criteria: (1) children with high and middle anal atresia; (2) complicated with rectourethral or rectovesical fistula; (3) complete follow-up data. Exclusion criteria: (1) complicated with 21-trisomy; (2) cerebral palsy and other mentaldisabilities; (3) Currarino syndrome; (4) FG syndrome. Clinical data of 88 patients with middle and high anal atresia, who complicated with rectourethral fistula or rectovesical fistula, and underwent anoplasty at Department of Pediatric Surgery, the First Affiliated Hospital of Zhengzhou University from January 2009 to June 2014 were enrolled in the study and analyzed. There were 24 cases with middle atresia and 64 cases with high atresia. All the cases were divided into 2 groups based on the operative method: laparoscopic group (laparoscopic-assisted anorectoplasty, 49 cases), pena group (posterior sagittal anorectoplasty, 39 cases). The demographic features of two groups were comparable. There were no statistically significant differences in gender, age, body mass, classification of anomaly types and sacral ratio (all P>0.05). Student t test and Chi square tests were used to compare the surgical conditions (operative time, postoperative hospital stay and complications), anal function (Kelly score), constipation (Krickenbeck constipation score) and anorectal pressure.@*Results@#Children of both groups all completed operation ssuccessfully. There were no statistically significant differences between laparoscopic group and pena group in the operative time [(120±31) minutes vs. (112±23) minutes, t=1.343, P=0.091] and postoperative hospital stay [(7.1±2.3) days vs. (10.7±3.3) days, t=6.021, P=1.000]. Complications were more common in the pena group [16.3% (8/49) vs. 35.9% (14/39), χ2=4.436, P=0.035]. The main complications in laparoscopic group were anal prolapse (8.2%, 4/49) and anal stenosis (6.2%, 3/49), while in pena group were anal stenosis (12.8%, 5/39) and perioperative perianal skin erosion (10.3%, 4/39). As for the anal function, the degree of feces, defecation control and sphincter contractility, the single scoring differences of Kelly scoring system were not statistically significant between the two groups, but the proportion of good function in the laparoscopic group was higher than that in the pena group [67.3% (8/49) vs. 38.5% (15/39), χ2=7.308, P=0.007]. Constipation occurred in 6 (12.2%) patients in the laparoscopic group, of whom 5 were improved by diet regulation and 1 required laxatives, while 9 (23.1%) patients developed constipation in the pena group, of whom 4 were improved by diet regulation and 5 required long-term laxatives. The difference of constipation ratio was not statistically significant (χ2=1.802, P=0.180). There were no cases of Krickenbeck constipation grade 3. Compared to the pena group, the laparoscopic group had higher anal resting pressure [(33.35±9.69) mmHg vs. (27.68±10.74) mmHg, t=2.599, P=0.011], higher dilating pressure [(9.00±5.61) mmHg vs.(6.51±3.24) mmHg, t=2.462, P=0.016], higher maximal squeeze pressure [(65.80±17.23) mmHg vs. (56.74±18.93) mmHg, t=2.389, P=0.019] and longer maximal contraction time [(21.16±5.02) seconds vs. (18.44±7.24) seconds, t=2.079, P=0.041]. The rectal resting pressure [(5.36±3.00) mmHg vs. (4.61±3.93) mmHg, t=1.015, P=0.312] was not statistically significantly different.@*Conclusions@#Compared with posterior sagittal anorectoplasty, laparoscopic-assisted anorectoplasty in the treatment of high and middle anal atresia has better long-term efficacy with less perioperative complications.

A Rare Case of Hyponatremia Caused by Reset Osmostat in a Neonate with Cleft Lip, Cleft Palate, and Imperforate Anus

Hyponatremia is defined as a plasma sodium concentration of < 135 mEq/L. It is a common electrolyte imbalance in newborns. We report the case of a term neonate with cleft lip, cleft palate, imperforate anus, normal male karyotype, and chronic hyponatremia. On the 4th day of life, he showed hyponatremia (plasma sodium concentration 130 mEq/L) with low serum osmolality (275 mOsm/kg), high urine sodium (116.7 mEq/L), and high urine osmolality (412 mOsm/kg). His thyroid and adrenal functions were normal. Despite intravenous and oral sodium supplementation and hydrocortisone treatment, hyponatremia persisted. Brain magnetic resonance imaging showed normal results. He was diagnosed as having reset osmostat, a rare subtype of the syndrome of inappropriate secretion of antidiuretic hormone characterized by a subnormal threshold for antidiuretic hormone secretion, with hypotonic hyponatremia.

Prenatal ultrasound in diagnosis of omphalocele-exstrophy-imperforate anus-spinal defects complex in first trimester / 中国医学影像技术

Objective To explore the value of prenatal ultrasound in diagnosis of omphalocele-exstrophy-imperforate anusspinal defects (OEIS) in first trimester.Methods Prenatal ultrasonic characteristics of 10 fetuses with OEIS complex in first trimester were retrospectively analyzed and compared with autopsy results.Results Cystic bulging in the lower anterior abdominal wall was observed in all 10 fetuses.Spinal scoliosis dysplasia was found in 10 fetuses,with myelomeningocele in 3 fetuses.No normal bladder was visualized in 8 fetuses.Thickened nuchal translucency was noticed in 5 fetuses,among which neck lymphatic hydrocele was found in 1 fetus.The bilateral clubbed feet and left lower mutilation was observed in 1 fetus,respectively.All 10 OEIS complex fetuses were found accompanied with short umbilical cord,while single umbilical artery and umbilical cord cyst were found in 4 and 1 fetus,respectively.Autopsy showed abdominal wall defects with exstrophy in 10 fetuses.However,no complete cystic bulging was found.Besides,autopsy also showed pubic symphysis separation and bladder exstrophy in 10 fetuses without obvious genitalia nor anus.Conclusion Cystic bulging in the lower anterior abdominal wall is the most common prenatal ultrasonic characteristic of OEIS complex in first trimester.

Exploration of the fetus with gross anomaly: a case of pseudo prune belly syndrome / 대한해부학회지

Prune belly syndrome is a rare congenital anomaly usually presented with triad characteristic feature of deficient abdominal muscles, cryptorchidism, and urinary tract anomalies. Here, we present a case with all the characteristic features of prune belly and the associated secondary features which were observed on detailed dissection and exploration of the fetus.

Congenital imperforate anus complicated with 22q11.2 deletion syndrome:a case report and literature review / 临床儿科杂志

Objective To explore the clinical phenotype of 22q11.2 deletion syndrome with imperforate anus. Methods The clinical diagnosis and treatment of one case of 22q11.2 deletion syndrome complicated with anal atresia were retrospectively analyzed. Gene and phenotype of this disease were analyzed, and the related literature was reviewed. Results An elder male test tube infant of twins, born to a G2P2 mother were found to have special facial features, cleft palate, congenital heart disease, and imperforate anus after birth. A genome-wide microarray scan revealed 22q11.2 deletion syndrome. In related literatures, 22q11.2 deletion syndrome could be affected by TBX1 gene, histone modification, Ranbp1 gene, and even microRNA; while imperforate anus were influenced by multiple elements such as genetic, maternal, and environmental factors and multiple embryonic developments related genes could be involved in its pathogenesis. Conclusions Congenital imperforate anus and 22q11.2 deletion syndrome are mostly sporadic cases in epidemiology and are incidental accidents in development. Whether there is a common interaction factor between them needs to be further studied and defined.

Radiological investigations of imperforate anus

Introduction: Imperforate anus is a defect that is present from birth (congenital) in which the opening to the anus is missing or blocked. In female infants, imperforate anus is typically characterized by the rectum, bladder and vagina sharing one large opening called a cloaca. The condition develops in utero during the 5th to 7th weeks of pregnancy. This condition often happens in conjunction with other defects of the rectum. Incidence is 1 in 5000. It is more common in males. Diagnosis is usually made shortly after birth. Aims and objectives: To study the presentation of imperforate anus using various radiological modalities. Materials and methods: 10 cases of either strong suspicion or symptoms related to imperforate anus were evaluated who came to Dhiraj hospital with different radiological modalities like plain radiograph lateral invertogram, cross table lateral radiograph, erect radiograph and contrast studies (MCUG). Results: Out of total number of 10 patients who were diagnosed and evaluated for imperforate anus 3 i.e. 33.3 % were diagnosed with plain radiograph lateral invertogram, 2 i.e. 20 % were diagnosed with prone cross table lateral radiograph, 2 i.e. 20 % were diagnosed with abdominal erect radiograph and 2 were found to have recto-vesical fistula with the help of micturating cystourethrogram. Conclusion: It was concluded that plain radiograph lateral invertogram proves to be the most important modality in diagnosing imperforate anus. It is followed by prone cross table lateral radiograph and abdominal erect radiograph. Micturating cystourethrogram proves to be important in diagnosing associated anomalies such as recto-vesical fistula.

Delayed diagnosis of 22q11 deletion syndrome due to late onset hypocalcemia in a 11-year-old girl with imperforated anus

Neonatal hypocalcemia and congenital heart defects has been known as the first clinical manifestation of the chromosome 22q11.2 deletion syndrome (22q11DS). However, because of its wide clinical spectrum, diagnosis of 22q11DS can be delayed in children without classic symptoms. We report the case of a girl with the history of imperforate anus but without neonatal hypocalcemia or major cardiac anomaly, who was diagnosed for 22q11DS at the age of 11 after the onset of overt hypocalcemia. She was born uneventfully from phenotypically normal Korean parents. Imperforate anus and partial cleft palate were found at birth, which were surgically repaired thereafter. There was no history of neonatal hypocalcemia, and karyotyping by GTG banding was normal. At the age of 11, hypocalcemia (serum calcium, 5.0 mg/dL) and decreased parathyroid hormone level (10.8 pg/mL) was noted when she visited our Emergency Department for fever and vomiting. The 22q11DS was suspected because of her mild mental retardation and velopharyngeal insufficiency, and a microdeletion on chromosome 22q11.2 was confirmed by fluorescence in situ hybridization. The 22q11DS should be considered in the differential diagnosis of hypocalcemia at any age because of its wide clinical spectrum.

Long-term evaluation of fecal continence and quality of life in patients operated for anorectal malformations / Avaliação tardia da continência fecal e da qualidade de vida em pacientes operados por malformações anorretais

Summary Introduction: Patients operated for correction of anorectal malformations (ARM) can develop fecal incontinence, constipation, and soiling, with loss in quality of life. Objective: To evaluate, through the use of questionnaires, fecal continence, and quality of life of children in the late postoperative follow-up of ARM correction, both high and low. In addition, the levels of fecal continence and quality of life were compared with those of a control group. Method: A Fecal Continence Index Questionnaire (ICF) and a Questionnaire for Assessment of Quality of Life Related to Fecal Continence in Children and Adolescents (QQVCFCA) were administered to 63 patients with ARM, aged from 7 to 19 years, whose surgical treatment had been completed for at least 6 months. The patients were compared to a control group of 59 children. Results: In the control group, 25 (42.4%) patients had good continence and 34 (57.6%), normal continence. We found that the quality of life in children with ARM is compromised globally, in all areas and in the ICF questionnaire, compared to controls (p<0.001). There was no difference between patients with high and low defects. Thirty-two (50.8%) patients had other associated anomalies. Conclusion: In patients operated for ARM correction, quality of life and ICF were compromised, and there was no difference between patients with high-type and low-type of the disease. In about half the cases there are other associated malformations.

Resumo Introdução: os pacientes operados para correção de malformações anorretais (MAR) podem evoluir com incontinência fecal, constipação e soiling, com prejuízo na qualidade de vida. Objetivo: avaliar pela aplicação de questionários a continência fecal e a qualidade de vida de crianças no seguimento pós-operatório tardio de correção de MAR, formas altas e baixas. Também foram comparados os índices de continência fecal e qualidade de vida com um grupo controle de crianças. Método: foram utilizados o Questionário para o Índice de Continência Fecal (ICF) e o Questionário para Avaliar a Qualidade de Vida Relativa à Continência Fecal em Crianças e Adolescentes (QQVCFCA). Os questionários foram aplicados em 63 pacientes de 7 a 19 anos com MAR, com tratamento cirúrgico finalizado há pelo menos 6 meses. Os pacientes foram comparados com um grupo controle de 59 crianças. Resultados: nos pacientes do grupo controle, 25 (42,4%) apresentaram boa continência e 34 (57,6%), normal. A qualidade de vida nas crianças com MAR está comprometida globalmente, em todos os domínios e no ICF, quando comparada com a dos controles (p<0,001). Não houve diferença entre os pacientes com anomalias altas e anomalias baixas. Trinta e dois (50,8%) pacientes apresentaram outras anomalias associadas. Conclusão: nos pacientes operados para correção de MAR, qualidade de vida e ICF foram comprometidos, não havendo diferença entre os pacientes com as formas altas ou baixas da doença. Em cerca de metade dos casos existem outras malformações associadas.

De las bases embriológicas a la clínica en el síndrome de Prune Belly / From the embryological basis to the clinical Prune Belly syndrome

El síndrome de Prune Belly es un trastorno congénito, que obedece según lo reportado actualmente a una base genética. Está caracterizado por la siguiente triada: deficiencia en grados variables de la musculatura abdominal, criptorquidia bilateral y anomalías del tracto urinario. Se identifican dos variantes del síndrome, una mortal y otra compatible con la vida(AU)

Prune Belly syndrome is a congenital disorder that is due, as currently reported, to genetic basis. It is characterized by the following triad: deficiency of abdominal muscles in varying degrees, bilateral cryptorchidism and urinary tract anomalies. Two variants of the syndrome are identified, a deadly one and another compatible with life(AU)

Learning curve of laparoscopic-assisted anorectoplasty for high imperforate anus / 中华实用儿科临床杂志

Objective To investigate the learning curve of laparoscopy-assisted anorectoplasty in the treatment of high imperforate anus.Methods Sixty patients with high congenital anal atresia who were treated with laparoscopy-assisted anorectoplasty in the Capital Institute of Pediatrics from December 2008 to October 2015 by one experience surgeon were selected as observation group.Based on the criteria,the patients were divided into 4 groups(15 cases in each group) according to the sequence of the operation and every 15 cases served as a learning phase.The operating time,frequency of operation,complication rate,conversion rate to open surgery,blood loss,the rates of blood transfusion and hospital stay were compared among the 4 phases.Results The mean operation duration was (176.3 ±41.6) min,(128.8 ± 36.1) min,(127.3 ± 35.2) min,(124.0 ± 30.1) min in group A,B,C and D,respectively.The operation duration of 4 groups showed a declining trend.Group A has longer operation time than group B,C and D,the difference were statistically significant (P ＜ 0.05).In detail,the comparison of operation time between group A and group B was statistically significant (P ＜ 0.05).Furthermore,group A had significantly more median blood loss than group B,C and D,the differences were statistically significant [the 4 groups of data,respectively,group A:(17.5 ±6.5) mL,group B:(15.0±5.0) mL,group C:(14.5 ±5.5) mL,group D:(8.5 ±6.5) mL,P＜0.05].The mean capacity of blood loss was 12.7 mL.No significant difference was found in surgical complications,the rates of blood transfusion,total hospital stay,and postoperative hospital stay among the 4 groups(P ＞ 0.05).But the postoperative hospital stay decreased from 9.8 d (group A) to 7.4 d (group D).Conclusions For a well-trained surgeon in imperforate anus surgery.The learning curve of laparoscopy-assisted anorectoplasty in the treatment of high imperforate anus on about 15 cases helps to make a skillful surgeon.

Variable expression observed in a Korean family with Townes-Brocks syndrome caused by a SALL1 mutation

Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by the classic triad of congenital anomalies of the anus, thumbs, and ears, with variable expressivity. Additionally, renal malformations, cardiac anomalies, and endocrine and eye abnormalities can accompany TBS, although less frequently. TBS is inherited in an autosomal dominant fashion; however, about 50% of patients have a family history of TBS and the remaining 50% have de novo mutations. SALL1, located on chromosome 16q12.1, is the only causative gene of TBS. SALL1 acts as a transcription factor and may play an important role in inducing the anomalies during embryogenesis. Clinical features of TBS overlap with those of other multiple anomaly syndromes, such as VACTERL syndrome, Baller-Gerold syndrome, Goldenhar syndrome, cat eye syndrome, and Holt-Oram syndrome. Consequently, there are some difficulties in differential diagnosis based on clinical manifestations. Herein, we report a Korean family with two generations of TBS that was diagnosed based on physical examination findings and medical history. Although the same mutation in SALL1 was identified in both the mother and the son, they displayed different clinical manifestations, suggesting a phenotypic diversity of TBS.

Omphalocele, exstrophy of cloaca, imperforate anus and spinal defect (OEIS Complex) with overlapping features of body stalk anomaly (limb body wall complex).

OEIS is an extremely rare constellation of malformations, which includes omphalocele, exstrophy of cloaca, imperforate anus, and spinal defect. We report here autopsy findings in a case of OEIS complex, which apart from the major anomalies of the complex had bilateral club foot that is, congenital talipes equinovarus, right hydroureter, and body stalk anomaly. The umbilical cord was absent, and the umbilical vessels were embedded in an amniotic sheet, which connected the skin margin of the anterior body wall defect to the placenta, this feature being the hallmark of limb body wall complex (LBWC). This case further supports the view that OEIS and LBWC represent a continuous spectrum of abnormalities rather than separate conditions and may share a common etiology and pathogenetic mechanism as proposed by some authors.

An accessory limb with an imperforate anus

Congenital accessory limbs are very rare anomalies with many causative factors. We describe the case of a 1-day-old female neonate-born to a healthy, 27-year-old mother-who presented with an accessory limb (foot) attached to the buttock and an imperforate anus. We also provide a review of the relevant literature.

Congenital Bronchoesophageal Fistula with Imperforate Anus and Atrial Septal Defect in a 3-Year-Old Child / 소아알레르기및호흡기학회지

Congenital bronchoesophageal fistula (BEF), congenital communication between esophagus and bronchus, is a rare malformation. Benign BEF shows only nonspecific symptoms that may delay a correct diagnosis and proper treatment. This is a case of a 3-year-old boy presenting congenital BEF with imperforate anus and atrial septal defect. He had recurrent pneumonia in the right lower lobe since he was 5 months old. A barium swallow examination showed a communicating fistula between the lower esophagus and the right lower lobe bronchus. Computed tomography scan supported to delineate the course of the fistula. He underwent resection surgery of the fistula and lobectomy of the right lower lobe. He recovered without any postoperative complications.

A Rare Case of Scimitar Syndrome Accompanied with an Imperforate Anus in a Newborn

Scimitar syndrome (SS) is a rare congenital anomaly characterized by hypoplasia of the right lung and partially anomalous pulmonary venous drainage to the inferior vena cava. The term scimitar derives from the shadow created by the anomalous pulmonary vein on chest X-ray that closely resembles that of a curved Turkish sword. It rarely presents as an isolated abnormality. Various cardiac and non-cardiac anomalies have been association with SS, such as right lung hypoplasia, dextroposition of the heart, hypoplasia of the right pulmonary artery, systemic arterial blood supply to the right lower lung from the infra-diaphragmatic aorta, and a secundum type of atrial septal defect. However, an imperforate anus has not been reported previously in association with SS. We describe the first case of infantile scimitar syndrome accompanied with an imperforate anus in a newborn who presented with tachypnea and right pulmonary atelectasis.

Imperforate Anus: Determination of Type Using Transperineal Ultrasonography

OBJECTIVE: This study was designed to assess the usefulness of transperineal ultrasonography (US) for the determination of imperforate anus (IA) type. MATERIALS AND METHODS:From January 2000 to December 2004, 46 of 193 patients with an IA underwent transperineal US prior to corrective surgery. Sonographic findings were reviewed to identify the presence of internal fistulas and to determine "distal rectal pouch to perineum (P-P)" distances. IA types were determined based on the sonographic findings, and the diagnostic accuracy of transperineal US was evaluated based on surgical findings. RESULTS: Of the 46 patients, 17 patients were surgically confirmed as having a high-type IA, three patients were confirmed as having an intermediate-type IA and 26 patients were confirmed as having a low-type IA. The IA type was correctly diagnosed by the use of transperineal US in 39 of the 46 patients (85%). In 14 of the 17 patients with a high-type IA, internal fistulas were correctly identified. All cases with a P-P distance > 16 mm were high-type IAs and all cases with a P-P distance < 5 mm were low-type IAs. CONCLUSION: Transperineal US is a good diagnostic modality for the identification of internal fistulas in cases of high-type IA and for defining the IA level.