Syndromic anorectal malformation associated with Holt–Oram syndrome, microcephaly, and bilateral corneal opacity: a case report (original) (raw)
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Challenges in prenatal diagnosis of foetal anorectal malformation and hydrocolpos – Case report
Annals of Medicine & Surgery
Introduction: and importance: Foetal hydrocolpos and anorectal malformation are difficult to diagnose prenatally due to abundance of differential diagnoses. This case report presents the challenges of diagnosing such disorders. Case presentation: A G3P2A0 woman came at 32 weeks of pregnancy with a referral for foetal ovarian cyst. Ultrasound revealed a singleton breech pregnancy, estimated foetal weight 3528 g. A septate abdominal cyst measuring 11.31 × 7.17 cm and polyhydramnios were present. Elective caesarean section delivered a female baby weighing 2820 g and measuring 43 cm. Neonatal examination revealed a right lateral suprapubic mass and a rectovestibular fistula. A sinoscopy revealed a suspected hydrocolpos. An abdominal hydrocolpos drainage was performed; a patent urachus and normal bilateral adnexa were present. Clinical discussion: Hydrocolpos is a rare congenital disorder due to distal obstruction of various etiologies. It may be mistaken with other pathologies, including fetal ovarian cysts. A genitourinary congenital abnormality may occur in conjunction with other abnormalities, including gastrointestinal tract anomalies. The presence of imperforate anus and/or fistula should alert the clinician of a possible association with VACTERL syndrome. Conclusion: Hydrocolpos is a rare congenital genitourinary disorder with various differential diagnoses. Simultaneous presence of other abnormalities is likely, with possible association to other syndromes.
Management of anorectal malformation in neonates
Indian journal of pediatrics
Anorectal malformations are one of the commonest anomalies in the new born. Major advances have been made in the last decade in operative techniques to reconstruct this abnormality. The final outcome in these babies is dependent on careful planning and operative intervention in the neonatal period. The purpose of this paper is to discuss the varied presentations of this anomaly, initial assessment and operative management with reference to our own experience.
Techniques in Coloproctology, 2015
The ARM-Net (anorectal malformation network) consortium held a consensus meeting in which the classification of ARM and preoperative workup were evaluated with the aim of improving monitoring of treatment and outcome. The Krickenbeck classification of ARM and preoperative workup suggested by Levitt and Peña, used as a template, were discussed, and a collaborative consensus was achieved. The Krickenbeck classification is appropriate in describing ARM for clinical use. The preoperative workup was slightly modified. In males with a visible fistula, no cross-table lateral X-ray is needed and an anoplasty or (mini-) posterior sagittal anorectoplasty can directly be performed. In females with a small vestibular fistula (Hegar size \5 mm), a primary repair or colostomy is recommended; the repair may be delayed if the fistula admits a Hegar size [5 mm, and in the meantime, gentle painless dilatations can be performed. In both male and female perineal fistula and either a low birth weight (\2,000 g) or severe associated congenital anomalies, prolonged preoperative painless dilatations might be indicated to decrease perioperative morbidity caused by general anesthesia. The Krickenbeck classification is appropriate in describing ARM for clinical use. Some minor modifications to the preoperative workup by Levitt and Peña have been introduced in order to refine terminology and establish a comprehensive preoperative workup.
Factors affecting the outcome of neonates with anorectal malformation in a developing country
2021
Background: The survival and outcome of neonates with anorectal malformations (ARM) have much improved in the developed countries due to optimal perioperative and postoperative care but in developing countries, sepsis, low birth weight, delayed presentation, and lack of intensive care for neonates are still important in affecting the outcome. This study was carried out to evaluate factors of poor outcome (mortality) in neonates with ARM. Method: This is a prospective analytical study. A total of 44 consecutive neonates with Anorectal malformations (ARM) presenting to the Department of Pediatric Surgery, The Children’s Hospital, Pakistan Institute of Medical Sciences, Islamabad, were included. Variables studied included age at presentation, gender, birth weight, type of malformation, sepsis at presentation, type of surgery performed, postoperative complications, and their relationship to the outcome. The statistical analysis was performed using SPSS version 21. Results: A total of 44...
Experience with anorectal malformations in Ile-Ife, Nigeria
Pediatric surgery international, 2004
The study was carried out to determine the characteristics and outcome of management of anorectal malformations (ARM) in Nigerian children at the Obafemi Awolowo University Teaching Hospitals Complex (OAUTHC) in Ile-Ife, Nigeria, between January 1986 and December 2002. Eighty-six children with ARM were studied, 48 males and 38 females. Only 12 (13.9%) presented to the hospital within 24 h of birth. Twenty-four (27.9%) patients had one or more associated congenital anomalies, with oesophageal atresia with tracheo-oesophageal fistula being the most common associated malformation. A low variety was identified in 26 (30.2%) cases, while 60 (69.8%) had intermediate or high lesions. Twenty-two patients with the low type of anomaly were offered primary anoplasty in the neonatal period, whereas 59 patients with intermediate or high malformations were offered a preliminary colostomy. A definitive pull-through procedure was ultimately performed in 27 of these 59 cases. Twenty-six patients (30...
Management of Anorectal Malformation: Experience from Ethiopia
Annals of African Surgery
Background: Anorectal malformations are among the most common congenital malformation seen in children. There is paucity of data regarding the incidence and treatment outcome of this disease from Ethiopia. Methods: This is a retrospective review of patients treated for ARM at the TASH from March 2010-February 2014. Relevant statistical analysis was done and the results presented in tables and graphs. Results: Six patients (6%) presented at early neonatal age (before the age of 4 days) and 14 (14%) presented between 4 days and one month. A total of 57 associated congenital malformations were diagnosed in 44/99(44%) patients. The two most common type of ARM diagnosed among the female patients were rectovestibular fistula which occurred in 39/56 (70%) and
―ANORECTAL MALFORMATIONS‖ EMBRYOLOGICAL BASISAND ITS CLINICAL SIGNIFICANCE
Anorectal malformations (ARM) comprises, a wide spectrum of diseases, which can affect girls and boys, and involve the rectum and distal anus as well as the genital and urinary tracts. ARM occurs in around 1 in 5000 live births. Defects range varies from the very minor or ―low‖ which are easily treated with an excellent functional prognosis, to those that are difficult to manage, complex, are often associated with other anomalies known as ―high‖, and have a poor functional prognosis. The surgical approach to repairing these defects changed intensely in 1980 with the introduction of the posterior sagittal approach, Better imaging techniques, and a improved knowledge of the anatomy and physiology of the pelvic structures at the time of birth
Outcome and Complications of Anorectal Malformations
IOSR Journals, 2019
Anorectal Malformation [ARM] is a relatively common, complex anomaly to treat, improvement in management has improved life style of ARM child. We have studied every case of ARM admitted in GMKMCH between January 2012 and December 2016 (total 81 ). Children admitted are first stabilized and examined clinically after 24 hours subjected to invertogram and treated according to type of anomaly. Male babies with low anomaly are treated with anoplasty. Female babies are subjected to posterior trans position of anus at 3 months of age. High and intermediate anomalies are treated with 3 stage procedures. It was found that ARM is common in low socio economic group with equal gender incidence. Half of the cases are associated with other anomalies which is most common cause of death. Laparoscopic Assisted Anorectoplasty [LAARP] is better for high ARM and Posterior Sagital Anorectoplasty [PSARP] for intermediate ARM. Functional outcome of low ARM is good compared to high and intermediate ARM
Introduction: In sub-Saharan Africa, Anorectal malformations (ARM) are the most frequent cause of neonatal obstruction. Referral to a Pediatric Surgeon is frequently delayed. The first treatment is often delivered at not specialist level and mismanagement may result. Aim: To study ARM patients referred beyond neonatal period and managed at a non-specialist level. Materials and Methods: One hundred and thirty patients were included (M/F ratio 63/67) among 144 admitted to three Eastern African Hospitals with Pediatric Surgical facilities. Demographics, type of anomaly, delay on referral, previous management, most commonly observed errors are reported. Results: The Mean age at referral was 23 months (range five weeks-23 years). Colostomy was the most frequent surgery (92 cases). Stomas often did not follow the recommended criteria. Ten per cent were not on the sigmoid, and 35% were not divided. "Loop" or "double-barrel" colostomies did not exclude the distal loop. Inverted (10,5%), prolapsed stomas (7,5%), short distal loop (16%) were observed. Twenty-four cases (26%) needed redo. Primary perineal exploration in eight patients resulted in incontinence. Conclusions: Investments on training practitioners, acting at District/Rural level, and closer links with tertiary centres are recommended to avoid ARM mismanagement and delayed referral to a Specialist.