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Imperforate anus

Hae Soo Joung, Alexandra Leon Guerrero, Sandra Tomita, Keith A Kuenzler
Anorectal malformations (ARMs) commonly co-occur with other congenital anomalies, particularly VACTERL (vertebral, anorectal, cardiac, tracheal, esophageal, renal, limb, and duodenal) associations. However, this collection of associations is not comprehensive, and other concurrent anomalies may exist that can be missed during the standard work-up of patients with ARMs. We present a rare case of a neonate with a low ARM with concurrent jejuno-ileal atresia that was diagnosed after the correction of the ARM when the patient developed segmental volvulus...
October 2016: Journal of Neonatal Surgery
Khaled M El-Asmar, Mohammed Abdel-Latif, Abdel-Hamid A El-Kassaby, Mohamed H Soliman, Mosad M El-Behery
BACKGROUND: Colonic atresia (CA) is a rare form of congenital intestinal atresia. Although CA may be isolated, it is more commonly reported in literature in association with other congenital anomalies. MATERIALS AND METHODS: This study is a review of prospectively collected data of all the patients with colonic atresia presented to our center (Ain Shams University) during 2008 to 2016. RESULTS: Twelve patients were enrolled in this study. The atresia was of type I in one case, type II in four cases, type IIIa in six cases, type IV in one case...
October 2016: Journal of Neonatal Surgery
Pablo Caro-Domínguez, Juan Bass, Julie Hurteau-Miller
In 1981, Currarino et al described a triad of findings that consist of partial sacral dysgenesis, presacral mass (anterior meningocele, enteric cyst, or presacral teratoma) and anorectal malformation. Currarino syndrome exhibits variable expressivity and the clinical presentation tends to vary with the age of the subject such as spinal anomaly detected in the fetus, imperforate anus in the newborn, and intractable constipation or neurologic symptoms in the infant and older child. At any age, meningitis can be the presenting symptom and imaging is required for proper investigation...
November 22, 2016: Canadian Association of Radiologists Journal, Journal L'Association Canadienne des Radiologistes
Barrett Cromeens, Jennifer L McKinney, Jeffrey Leonard, Lance Governale, Judy Brown, Christina Henry, Marc Levitt, Richard Wood, Gail Besner, Monica P Islam
Conjoined twins occur in up to 1 in 50,000 live births with approximately 18% joined in a pygopagus configuration at the buttocks. Twins with this configuration display symptoms and carry surgical risks during separation related to the extent of their connection which can include anorectal, genitourinary, vertebral, and neural structures. Neurophysiologic intraoperative monitoring (NIOM) for these cases has been discussed in the literature with variable utility. We present a case of pygopagus twins with fused spinal cords and imperforate anus where the use of NIOM significantly impacted surgical decision making in division of these critical structures...
October 1, 2016: Journal of Clinical Neurophysiology: Official Publication of the American Electroencephalographic Society
Tina T Thomas, Daniel H Teitelbaum, Ethan A Smith, Jonathan R Dillman, Ranjith Vellody, Marcus D Jarboe
PURPOSE: Surgical procedures for high imperforate anus have ranged from the posterior sagittal anorectoplasty (PSARP) to laparoscopic-assisted anorectoplasty (LAARP). PSARP bisects the sphincter muscle complex, introducing muscle injury and scarring. LAARP uses a straight trocar to traverse an often non-linear sphincter muscle complex. MRI-assisted LAARP (MRI-LAARP) guides the neorectum precisely through the middle of the entire sphincter complex along its trajectory. We present our experience utilizing MRI intraoperatively during LAARP...
October 8, 2016: Pediatric Surgery International
Usha D Nagaraj, Karin S Bierbrauer, Jose L Peiro, Beth M Kline-Fath
OBJECTIVE: The purpose of this study is to identify differences in findings between open and closed spinal dysraphisms seen on fetal MR images. MATERIALS AND METHODS: A single-institution retrospective analysis of fetal MR images for spinal dysraphism was performed. Postnatal images and clinical and operative reports were reviewed. RESULTS: Sixteen fetuses with postnatally confirmed closed spinal dysraphisms were included. Of these, 25% (4/16) had posterior fossa anomalies, 12...
December 2016: AJR. American Journal of Roentgenology
Anne Marie O'Donnell, David Coyle, Prem Puri
PURPOSE: The retinoblastoma 1 (RB1) tumor suppressor is a critical regulator of cell cycle progression and development, and has been widely documented to be inactivated in human cancer. A recent study using RB1 knockout mice suggested a new role for RB1 in the normal regulation of the enteric nervous system (ENS), because of knockout mice showing ENS abnormalities and severe intestinal dysmotility. The aim of our study was to investigate the expression of RB1 in the normal human colon and in Hirschsprung's disease (HD)...
November 2016: Journal of Pediatric Surgery
Robbie Hurtt, Christopher Bean, David Sawaya, Edwin Harmon
We present a neonatal male with a rectopenile fistula in the setting of imperforate anus. Reported cases of fistulae exiting on the penile shaft are exceedingly rare. The patient had a diverting colostomy performed within the first 48 hours of life and imaging later revealed no communication with the urinary tract. At 4 months of age the child was brought to the operative suite for penile exploration and posterior sagittal anorectoplasty. The patient's colostomy was reversed 4 months later. We discuss the embryology and management of imperforate anus as well as literature review...
July 20, 2016: Urology
Anne Marie O'Donnell, David Coyle, Prem Puri
PURPOSE: NEDD4-like ubiquitin protein ligase 2 (NEDL2) plays an important role in many physiological and pathological processes. NEDL2 is a positive regulator of GDNF/Ret signaling during enteric neurogenesis. Mice lacking NEDL2 exhibit decreased numbers of enteric neurons, progressive bowel dysmotility and intestinal hypoganglionosis. We designed this study to investigate the expression of NEDL2 in the normal human colon and in HSCR. METHODS: HSCR tissue specimens (n=10) were collected at the time of pull-through surgery and divided into aganglionic and ganglionic segments...
July 5, 2016: Journal of Pediatric Surgery
J Castillo, L Cristóbal, J Alonso, R Martín, D Suárez, M A Martínez, C Cagigas, M Gómez-Ruiz, M Gómez-Fleitas, A Vázquez-Barquero
AIM: Sacral nerve stimulation (SNS) lead implantation is a straightforward procedure for individuals with intact spinal vertebrae. When sacral anomalies are present, however, the anatomical and radiological reference points used for the accurate placement of the electrode may be absent or difficult to identify. METHOD: We describe an innovative surgical procedure of percutaneous nerve evaluation for SNS in a patient with faecal incontinence secondary to a congenital imperforate anus and partial sacral agenesis using a surgical imaging platform (O-arm system) under neurophysiological control...
September 2016: Colorectal Disease: the Official Journal of the Association of Coloproctology of Great Britain and Ireland
Anne-Marie O'Donnell, David Coyle, Prem Puri
AIM: Voltage-gated sodium channel subtype 9 (Nav1.9) are expressed in dorsal root ganglion neurons and are known to be involved in pain during inflammation. Animal studies have reported Nav1.9 channel expression in myenteric intrinsic primary afferent neurons (IPANs). More recently, a study involving Nav1.9 knockout mice showed clear evidence of colonic dysmotility. However, there are no data regarding the expression of these channels in the human intestine, thus, the aim of our study was to determine Nav1...
September 2016: Journal of Pediatric Surgery
Saleh M Eftaiha, George Melich, Ajit Pai, Slawomir J Marecik, Leela M Prasad, John J Park
INTRODUCTION: Bowel dysfunction (fecal incontinence and constipation) presents in over 50% of patients after treatment of congenital anal malformations. Sacral nerve stimulation (SNS) for the treatment of fecal incontinence improves function in the majority of patients. We present a case report of the treatment of bowel dysfunction with sacral nerve stimulation in a patient with a history of an imperforate anus. PRESENTATION OF CASE: A twenty year-old female with a history of imperforate anus at birth, repaired during infancy with anorectoplasty, presented with fecal incontinence and constipation...
2016: International Journal of Surgery Case Reports
Gang Yang, Yingli Wang, Xiaoping Jiang
BACKGROUND: Although anorectal malformations (ARMs) are frequently encountered, rare variants difficult to classify have been reported. METHODS: This study describes a patient with ARM and rectopenile fistula. The literature was reviewed systematically to assess the anatomical characteristics, clinical presentations and operations of this rare type of ARM. RESULTS: Eight patients were reported in the six included articles. In three patients, the fistula extended from the rectum to the anterior urethra without communication with the skin...
2016: BMC Pediatrics
Michael Rudolf Mallmann, Heiko Reutter, Annette Margarete Müller, Annegret Geipel, Christoph Berg, Ulrich Gembruch
OBJECTIVE: The omphalocele-exstrophy-imperforate anus-spinal defects (OEIS) complex is a rare variant of the bladder exstrophy epispadias complex with in most cases unknown etiology. Due to the rarity of the disease, no large series exist that describe the prenatal spectrum of disease or additional malformations. METHODS: In this study, we present the prenatal findings in a series of 12 cases. RESULTS: All fetuses showed exstrophy of the bladder, 9/12 omphalocele, 9/12 anal atresia, 10/12 neural tube defects, 4/12 vertebral defects, 5/12 lower extremity defects including clubfeet, and 4/12 a single umbilical artery...
May 5, 2016: Fetal Diagnosis and Therapy
Mi-Young Lee, Hye-Sung Won, Jae-Yoon Shim, Pil-Ryang Lee, Ahm Kim, Byong Sop Lee, Ellen Ai-Rhan Kim, Hyun Jin Cho
OBJECTIVES: The purpose of this study was to determine the type of an imperforate anus by using sonography in the prenatal period. METHODS: This retrospective study evaluated the fetal anus in all pregnant women, including low- and high-risk populations, between February 2010 and November 2013. High-type imperforate anuses were diagnosed by prenatal sonography when the anal sphincter muscles and anal canal mucosa were not visible. Low-type imperforate anuses were prenatally suspected when at least 1 of the following was present: (1) a small anus; (2) no visible anal mucosa; or (3) close location of the genitalia by the anus without a visible perineal body, particularly in a female fetus...
June 2016: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
Medis Çöllü, Şirin Yüksel, Başak Kumbasar Şirin, Latif Abbasoğlu, Yasemin Alanay
Epispadias and exstrophy of the cloaca, also known as OEIS complex (omphalocele, exstrophy, imperforate anus, spinal defects), respectively constitute the most benign and severe ends of the bladder exstrophy-epispadias complex (BEEC) spectrum. In 2009, El-Hattab et al. reported the first patient with OEIS complex associated with a chromosome 1p36 deletion. Here we report a second patient with 1p36 deletion who also has classic bladder exstrophy, supporting the possible role of genes in this region in the development of BEEC...
July 2016: American Journal of Medical Genetics. Part A
Dimitrios Sfoungaris, Vassilios Mouravas, Vassilios Lambropoulos, Chrysostomos Kepertis, Ioannis Spyridakis
We present the case of a male neonate with imperforate anus and a fistula exiting on the penile skin. Anorectal malformations in boys often present themselves with an entero-perineal or entero-urinary tract fistula, the type of which is a key feature for the classification and the treatment plan. A fistula exiting in front of the scrotum, such as described in our case, is very rare and is not incorporated in the current classification and treatment algorithms. Scarce reports on misjudgment concerning the position of the blind rectal pouch in similar cases, led us to perform a colostomy instead of a one-stage correction...
March 2016: Journal of Clinical and Diagnostic Research: JCDR
Eric Frouin, Benjamin Riviere, Olivier Maillet, Marjolaine Willems, Nicolas Kalfa, Valerie Costes, Didier Bessis
Eccrine nevi are rare hamartomas characterized by an increase in the number or size of eccrine glands. A polypoid form located in the coccygeal area has been described in a few cases and termed coccygeal polypoid eccrine nevus (CPEN). No association with internal malformations was reported in any of these cases. We describe herein a case of CPEN associated with imperforate anus and unilateral multicystic kidney dysplasia. We review the clinical and pathological characteristics of CPENs and discuss the differential diagnoses...
August 2016: Journal of Cutaneous Pathology
Fu-Jun Lin, Wei Lu, Daniel Gale, Yao Yao, Ren Zou, Fan Bian, Geng-Ru Jiang
Townes-Brocks syndrome (TBS) is a rare autosomal dominant congenital anomaly syndrome characterized by the triad of anorectal, hand and external ear malformations. Kidney involvement is less common and may progress to end-stage renal failure (ESRF) early in life. The present study reports the case of a male patient presenting with multiple bilateral cortical kidney cysts at the age of 4 years, at which time the kidneys were of normal size and function. A clinical diagnosis of autosomal recessive polycystic kidney disease was made initially as the patient's parents are clinically healthy...
April 2016: Experimental and Therapeutic Medicine
Anne-Marie O'Donnell, David Coyle, Prem Puri
AIM: To investigate whether the expression of platelet-derived growth factor receptor-α-positive (PDGFRα(+))-cells is altered in Hirschsprung's disease (HD). METHODS: HD tissue specimens (n = 10) were collected at the time of pull-through surgery, while colonic control samples were obtained at the time of colostomy closure in patients with imperforate anus (n = 10). Immunolabelling of PDGFRα(+)-cells was visualized using confocal microscopy to assess the distribution of these cells, while Western blot analysis was undertaken to quantify PDGFRα protein expression...
March 28, 2016: World Journal of Gastroenterology: WJG
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