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Anorectal Anomaly

Michael D Cearns, Samantha Hettige, Paolo De Coppi, Dominic N P Thompson
OBJECTIVE It is well established that Currarino syndrome (CS) may be associated with spinal dysraphism. Here, the authors report on 10 CS patients with dysraphic anomalies who had undergone a combined neurosurgical and general surgical approach to repair the dysraphic anomalies and resect the presacral mass in a single operation. They discuss the spectrum of spinal dysraphism that may coexist in CS in the context of its developmental etiology. METHODS Children with a confirmed CS diagnosis who had undergone the combined operative approach were identified from a departmental database...
August 10, 2018: Journal of Neurosurgery. Pediatrics
A K Ebert, N Zwink, E Jenetzky, R Stein, T M Boemers, M Lacher, C Fortmann, F Obermayr, M Fisch, K Mortazawi, E Schmiedeke, V Eisenschmidt, M Schäfer, K Hirsch, W H Rösch, H Reutter
OBJECTIVES: To further investigate associated anomalies in EEC patients CURE-Net database was systematically screened. In literature the exstrophy-epispadias complex (EEC) comprises a spectrum of anomalies, mainly occurring "isolated" without additional congenital defects. Nevertheless, previous epidemiological studies indicated a higher association with renal, anorectal and lower neurotubular anomalies, which may originate from the same developmental morphogenetic fields. PATIENTS AND METHODS: 73 prospectively (born since 2009) and 162 cross-sectional recruited EEC patients (born 1948-2008) were analysed...
August 1, 2018: Urology
Madhusmita, Rohini G Ghasi, M K Mittal, Deepak Bagga
Purpose: To evaluate the spectrum of magnetic resonance imaging (MRI) findings in pediatric patients with anorectal malformation (ARM) and compare the accuracy of MRI and distal cologram (DC) findings using surgery as reference standard. Materials and Methods: Thirty pediatric patients of age less than 14 years (19 boys and 11 girls) with ARM underwent preoperative MRI. MRI images were evaluated for the level of rectal pouch in relation to the pelvic floor, fistula, and development of sphincter muscle complex (SMC)...
April 2018: Indian Journal of Radiology & Imaging
Yasmine Yousef, Angela Lee, Frehun Ayele, Dan Poenaru
BACKGROUND: The purpose of this study was to estimate the unmet burden of surgically correctable congenital anomalies in African low- and middle-income countries (LMICs). METHODS: We conducted a chart review of children operated for cryptorchidism, isolated cleft lip, hypospadias, bladder exstrophy and anorectal malformation at an Ethiopian referral hospital between January 2012 and July 2016 and a scoping review of the literature describing the management of congenital anomalies in African LMICs...
June 27, 2018: Journal of Pediatric Surgery
Shulian Chen, Rang Gao, Hong Li, Kunjie Wang
Rectourethral fistula is an uncommon but devastating condition resulting from surgery, radiation, trauma, inflammation, or occasionally anorectal anomaly. Because of involving the urinary and the digestive system, surgical repair can be challenging. More than 40 different surgical approaches were described in the literature. However, no standardized management exists due to the rarity and complexity of the problem. Spontaneous closure of fistula is rare and most cases need reconstructive procedures. Appropriate preoperative assessment is crucial for the decision of operation time and method...
July 2018: Asian Journal of Urology
Dhanya Mullassery, Roberta Iacona, Kate Cross, Simon Blackburn, Edward Kiely, Simon Eaton, Joe Curry, Paolo De Coppi
AIM OF THE STUDY: Divided colostomy (DC) has been recommended in anorectal malformations (ARMs) with previously reported advantages of decreasing overflow into the distal limb and urinary tract infections (UTIs). Skin bridge loop colostomy (LC) is a technically easier alternative without an increase in these complications. We report our institutional experience of LC in ARM. METHODS: Retrospective study (Institution-approved Clinical Audit) reviewing the clinical records of all patients with ARM undergoing stoma formation in a single UK tertiary pediatric surgical center (2000-2015)...
June 1, 2018: Journal of Pediatric Surgery
Muhammad Umar Nisar, Nadeem Akhtar, Mudassar Fiaz Gondal, Samer Sikander, Sana Viqar
Aphallia or penile agenesis is very rare congenital anomaly of unknown cause occurring 1 in 30 million live births. Very little has been written in literature about aphallia. There is absent phallus and urethra may open abnormally in perineum or into rectum posing various surgical, social and psychological implications as the child grows. We are presenting 03 cases of aphallia with associated congenital anomalies such as unilateral renal agenesis, bilateral undescended testes, anorectal malformation and rectovasical fistula...
April 2018: Journal of Ayub Medical College, Abbottabad: JAMC
Laura V Veras, Pranit N Chotai, Andrew Z Tumen, Ankush Gosain
BACKGROUND: Cloaca, Hirschsprung disease, and anorectal malformations (CHARM) are congenital anomalies of the hindgut. Small series have suggested that children suffering from one of these anomalies may be at risk for growth impairment. We sought to expand on these findings in a comprehensive cohort, hypothesizing that patients with Medicaid insurance or African-American (AA) race would be at higher risk for poor growth. METHODS: Following Institutional Review Board (IRB) approval, single-institution retrospective review of children with CHARM anomalies was performed (2009-2016)...
September 2018: Journal of Surgical Research
Ali Alsaadi, Hamdi A Alsufiani, Mohammad D Allugmani, Altaf Hussain Gora
Esophageal lung is a rare communicating bronchopulmonary foregut malformation in which the main bronchus arising from the trachea is absent. The affected lung is usually hypoplastic and aerated via an anomalous airway originating from the esophagus. Other anomalies such as esophageal atresia with tracheoesophageal fistula or VACTERL (vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal anomalies, and limb abnormalities) association can co-exist. The initial radiographic findings may be normal, but subsequent imaging usually shows progressive and recurrent lung collapse, probably because of recurrent aspiration through the anomalous airway and poor compliance of the affected lung during breathing...
April 2018: Radiology Case Reports
L H Chowdhury, U K Nag, N A Sheuli, U Roy
Complete colorectal tubular duplication is very rare congenital anomaly and its association with anorectal malformation is extremely rare. Preoperative diagnosis is very difficult and management is also challenging. We report a case of a newborn present as a bucket handle variety of anorectal malformation which was per-operatively diagnosed as an ARM with rectal duplication. At his 14th months of age on laparotomy patient was diagnosed as a case of ARM with total colonic duplication with single appendix. We managed the case successfully without extensive bowel resection in staged procedure...
April 2018: Mymensingh Medical Journal: MMJ
C Grano, M Fernandes, S Bucci, D Aminoff, F Lucidi, C Violani
AIM: Anorectal malformations (ARMs) are rare congenital colorectal anomalies with long lasting consequences, among which faecal incontinence is one of the most relevant since it may strongly affect patients' health-related quality of life (HRQoL). Although a growing body of literature supports the importance of self-efficacy in chronic disease health outcomes, only few studies have focused on self-efficacy in ARMs and in faecal incontinence. The purpose of the present study is to examine the mediational role of self-efficacy in the path between faecal incontinence and HRQoL in patients born with ARMs...
May 11, 2018: Colorectal Disease: the Official Journal of the Association of Coloproctology of Great Britain and Ireland
Anaëlle Lenormand, Roman Khonsari, Pierre Corre, Jean Philippe Perrin, Cécile Boscher, Mathilde Nizon, Olivier Pichon, Albert David, Cedric Le Caignec, Helios Bertin, Bertrand Isidor
Ankyloglossia is a congenital oral anomaly characterized by the presence of a hypertrophic and short lingual frenulum. Mutations in the gene encoding the transcription factor TBX22 have been involved in isolated ankyloglossia and X-linked cleft palate. The knockout of Lgr5 in mice results in ankyloglossia. Here, we report a five-generation family including patients with severe ankyloglossia and missing lower central incisors. Two members of this family also exhibited congenital anorectal malformations. In this report, male-to-male transmission was in favor of an autosomal dominant inheritance, which allowed us to exclude the X-linked TBX22 gene...
April 28, 2018: American Journal of Medical Genetics. Part A
Praveen Mathur, Krishna Mohan Medicherla, Spandan Chaudhary, Mruduka Patel, Prashanth Bagali, Prashanth Suravajhala
We demonstrate the application of whole exome sequencing to discover the rare variants for congenital pouch colon, acronymed CPC. For 18 affected individuals in a total of 64 samples, we sequenced coding regions to a mean coverage of 100×. A sufficient depth of ca. 94% of targeted exomes was achieved. Filtering against the public SNP/variant repositories, we identified a host of candidate genes, EPB41L4A and CTC1 associated with colon, neural/brain muscles and Dyskeratosis Congenita maladies. Furthermore, the stop gain mutations in the form of JAG1,OR5AR1,SLC22A24,PEX16,TSPAN32,TAF1B,MAP2K3 and SLC25A19 appears to be localized to Chromosomes 2, 11, 17 and 20 in addition to the three stop lost mutants across three genes, viz...
April 27, 2018: Scientific Reports
Alejandra Vilanova-Sanchez, Carlos A Reck, Yuri V Sebastião, Molly Fuchs, Devin R Halleran, Laura Weaver, D Gregory Bates, Alessandra C Gasior, Tassiana Maloof, Erin J Hoover, Jordan Jaggers, Renae Gagnon, Christina C Ching, Daniel Dajusta, Venkata R Jayanthi, Marc A Levitt, Richard J Wood
BACKGROUND AND AIM: The sacral ratio (SR) is a well-established tool to quantify sacral development in patients with anorectal malformations (ARM) and can be used as a predictor of fecal continence. We hypothesized that a lower SR correlated with the presence of urologic and renal malformations. METHODS: We retrospectively reviewed the medical records of patients with ARM treated at our center from 2014 to 2016. We measured the lateral SR as a marker for sacral development and assessed the spine for the presence of tethered cord (TC)...
March 23, 2018: Journal of Pediatric Surgery
Peter C Minneci, Rashmi S Kabre, Grace Z Mak, Devin R Halleran, Jennifer N Cooper, Amin Afrazi, Casey M Calkins, Cynthia D Downard, Peter Ehrlich, Jason Fraser, Samir K Gadepalli, Michael A Helmrath, Jonathan E Kohler, Rachel Landisch, Matthew P Landman, Constance Lee, Charles M Leys, Daniel L Lodwick, Rodrigo Mon, Beth McClure, Beth Rymeski, Jacqueline M Saito, Thomas T Sato, Shawn D St Peter, Richard Wood, Marc A Levitt, Katherine J Deans
BACKGROUND: This study evaluates screening practices and the incidence of associated anomalies in infants with anorectal malformations (ARM). METHODS: We performed a multi-institutional retrospective cohort study of children born between 2007 and 2011 who underwent surgery for ARM at 10 children's hospitals. ARM type was classified based on the location of the distal rectum, and all screening studies were reviewed. RESULTS: Among 506 patients, the most common ARM subtypes were perineal fistula (40...
June 2018: Journal of Pediatric Surgery
Ziyad M Binsalamah, Charles D Fraser, Carlos M Mery
Pulmonary artery slings and vascular rings are very rare congenital anomalies. It is even rarer to have both anomalies in the same setting. We present a case of a toddler who was diagnosed with a left pulmonary artery sling and a vascular ring as part of the screening process for the VACTERL association - co-occurrence of vertebral, anorectal, cardiac, tracheoesophageal, renal, and limb malformations. He underwent a successful surgical repair via median sternotomy and on cardiopulmonary bypass with an uneventful postoperative course...
May 2018: Cardiology in the Young
Richard J Wood, Marc A Levitt
Anorectal malformation are common congenital problems occurring in 1 in 5,000 births and have a spectrum of anatomical presentations, requiring individualized treatments for the newborn, sophisticated approaches to the definitive reconstruction, and management of long-term treatments and outcomes. Associated anomalies related to the cardiac, renal, gynecologic, orthopedic, spinal, and sacral systems impact care and prognosis. Long-term results are good provided there is an accurate anatomical reconstruction and a focus on maximizing of functional results...
March 2018: Clinics in Colon and Rectal Surgery
Sarah B Cairo, Alessandra Gasior, Michael D Rollins, David H Rothstein
BACKGROUND: Anorectal malformations are one of the most common congenital intestinal anomalies affecting newborns. Despite advances in neonatal care and surgical techniques, many patients with a history of anorectal malformations are affected by long-term challenges involving bowel and bladder dysfunction, sexual dysfunction, and psychosocial issues. These outcomes or challenges are additionally exacerbated by the lack of a structured transition of care from the pediatric to the adult setting...
March 2018: Diseases of the Colon and Rectum
Sanjay Sinha, Mehul A Shah, Dilip M Babu
Introduction: Sacral agenesis (SA) is a caudal regression anomaly that can cause neurogenic bladder but is not generally recognized as high risk. We studied the clinical presentation, upper urinary tract, bone and spine abnormalities, and urodynamic findings in patients with SA and compared them with related high-risk conditions, anorectal malformation (ARM), and cloacal malformation. Materials and Methods: Patient records between May 2011 and December 2015 were identified and grouped into isolated SA without an overt anomaly (Group I), SA with overt caudal regression anomalies (Group II), and ARM or cloacal malformation without the SA (Group III)...
January 2018: Indian Journal of Urology: IJU: Journal of the Urological Society of India
Feride Mehmetoğlu
Rectal atresia is a rare anorectal malformation, and its association with other anomalies is even more rare. This study presents a unique case of co-twin in which the surviving newborn male underwent surgery due to rectal atresia. Newborn screening tests identified congenital hypothyroidism. The surgical treatment consisted of three stages and thyroid hormones were replaced.
January 2018: European Journal of Pediatric Surgery Reports
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