Anorectal malformations are congenital anomalies ranging from simple perineal fistulas to complex malformations. They are usually treated inchildhood, and exceptionally in adult. We herein report the case of a 22 years aged patient and relate the diagnosis difficulties and therapeuticoptions. She consulted for anal imperforation discovered since birth. Initially, His parents refused the surgical management. It was an analimperforation with a vestibular fistula. The patient was operated by a low approach. She had a disconnection of the recto-vestibular fistula,dissection of the anal canal and a perineal posterior transposition. Postoperative course was uneventful. The evaluation of continence usingKelly's score found good Functional result.
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Curr Issues Mol Biol
January 2025
Unit of Molecular Genetics, Center for Advanced Studies and Technology (CAST), University "Gabriele d'Annunzio" of Chieti-Pescara, 66100 Chieti, Italy.
Background: Anorectal malformations (ARMs) are a common pediatric surgical problem with an incidence of 1:1500 to 1:5000 live births. The phenotypical spectrum extends from anal stenosis to imperforate anus with or without anal fistula to persistent cloaca. They can manifest as either non-syndromic or syndromic conditions.
View Article and Find Full Text PDFObjective: While the association of a syrinx with a tethered spinal cord in the context of VACTERL (vertebral defects [V], imperforate anus or anal atresia [A], cardiac malformations [C], tracheoesophageal defects [T] with or without esophageal atresia [E], renal anomalies [R], and limb defects [L]) association is known, the incidence of idiopathic syrinxes among these patients has not previously been reported. The authors aimed to characterize the incidence of syrinxes and the pattern of congenital anomalies in pediatric patients with VACTERL association, with a specific focus on the presence of idiopathic syrinxes in this population.
Methods: An institutional database was retrospectively queried for all pediatric patients with VACTERL association.
Surg Neurol Int
December 2024
Department of Neurosurgery, Graduate School of Medical Sciences, Kyushu University, Iizuka, Japan.
Background: Omphalocele-exstrophy-imperforate anus-spinal defects (OEIS) complex is a rare, life-threatening congenital malformation primarily treated with abdominogenital repair. The optimal indication and timing of neurosurgical interventions for the associated spinal cord lesions remains insufficiently studied. We reviewed spinal dysraphism in OEIS to evaluate the best timing for neurosurgical intervention.
View Article and Find Full Text PDFPediatr Surg Int
December 2024
Department of Pediatric Surgery, Hokkaido Medical Center for Child Health and Rehabilitation, 1-1-240-6, Kanayama, Teine-ku, Sapporo, Hokkaido, 006-0041, Japan.
Purpose: This study aimed to identify surgical site infection (SSI) risk factors after anal reconstruction surgery in patients with anorectal malformations (ARMs).
Methods: This retrospective analysis from January 2013 to December 2022, including all pediatric surgical facilities in Hokkaido, Japan, examined consecutive patients with ARMs, excluding cloacal cases, regarding perioperative and SSI factors during their initial anal reconstruction surgeries.
Results: This study involved 157 cases of major clinical groups and 7 cases of rare/regional variants, among whom 4% developed SSIs.
Afr Urol
June 2024
Division of Urology, Department of Surgery, University of Utah School of Medicine, United States of America.
Bladder exstrophy-epispadias-cloacal exstrophy complex (BEEC) is a spectrum of congenital urologic anomalies that involve the bladder, urethra, genitalia, and pelvic musculoskeletal system, and can affect urinary continence, sexual health, and fertility. BEEC includes a wide spectrum of anatomical abnormalities with different levels of severity: epispadias represents the mildest phenotype, classic bladder exstrophy (CBE) is the most common defect, and cloacal exstrophy (CE) - often referred to as omphalocele, exstrophy, imperforate anus, and spinal defects (OEIS) complex - is the most severe form. BEEC disorders cause significant health problems and affect the health-related quality of life (QoL) of affected individuals.
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