RESUMO
PURPOSE: Surgical procedures for anorectoplasty for anorectal malformations (ARMs), particularly rectourethral fistula (RUF), depend on the institution. We investigated the diagnosis and treatment of RUF in male patients with ARMs in Japan using a questionnaire survey. METHODS: An online survey inquiring about the diagnosis and treatment (diagnostic modalities, surgical approaches, fistula dissection devices, and fistula closure techniques) of each type of ARM in male patients was conducted among institutional members of the Japanese Study Group of Anorectal Anomalies. Fisher's exact test was used to compare surgical methods between posterior sagittal anorectoplasty (PSARP) and laparoscopy-assisted anorectoplasty (LAARP). RESULTS: Sixty-one institutions (100%) completed the survey. LAARP was the preferred approach for high-type ARM (75.4%). PSARP was preferred for intermediate-type ARM (59.0%). Monopolar devices were most commonly used (72.1%) for RUF dissection. Blunt dissection was more frequent in the PSARP group (PSARP vs. LAARP: 55.6 vs. 20.0%, p < 0.005). Cystoscopy/urethroscopy to confirm the extent of dissection was used more frequently in the LAARP group (70.0% vs. 25.0%, p < 0.005). Clips and staplers were used more frequently in the LAARP group (p < 0.05). CONCLUSION: Distinct fistula management strategies for PSARP and LAARP were revealed. Further studies are needed to investigate the postoperative outcomes associated with these practices.
Assuntos
Malformações Anorretais , Fístula Retal , Doenças Uretrais , Fístula Urinária , Humanos , Masculino , Fístula Retal/cirurgia , Fístula Retal/diagnóstico , Japão , Malformações Anorretais/cirurgia , Fístula Urinária/cirurgia , Fístula Urinária/diagnóstico , Inquéritos e Questionários , Doenças Uretrais/cirurgia , Doenças Uretrais/diagnóstico , Anus Imperfurado/cirurgia , Anus Imperfurado/diagnóstico , Laparoscopia/métodosRESUMO
ABSTRACT: Genitourinary prolapse in newborn females as an introital mass is an uncommon entity. The usual causative mechanisms are poor pelvic innervation, damage or pressure on pelvic musculature and ligaments etc. Different methods of reduction as treatment were proposed in the past. Apart from uncommon occurrence of genitourinary prolapse in newborns, its association with anorectal malformation is not reported in English literature after searching on PubMed and Google Scholar. We report three cases of genitourinary prolapse with anorectal malformation in newborn females where decompressing colostomy was curative for the condition reflecting increased intra-abdominal pressure as causative mechanism.
Assuntos
Malformações Anorretais , Humanos , Feminino , Recém-Nascido , Malformações Anorretais/cirurgia , Malformações Anorretais/complicações , Malformações Anorretais/diagnóstico , Prolapso de Órgão Pélvico/cirurgia , Prolapso de Órgão Pélvico/diagnóstico , Prolapso de Órgão Pélvico/complicações , Anormalidades Urogenitais/cirurgia , Anormalidades Urogenitais/complicações , Anormalidades Urogenitais/diagnóstico , Colostomia , Anus Imperfurado/cirurgia , Anus Imperfurado/diagnóstico , Anus Imperfurado/complicaçõesRESUMO
ABSTRACT: Currarino syndrome (CS) is a rare congenital syndrome characterized by a triad of anorectal malformation, sacral deformity, and presacral mass. In about 50% of cases, it is caused by HLXB9 gene mutation in chromosome 7q36. A 13-month-male child presented with presacral discharging sinus with a history of surgery for anorectal malformation and perineal fistula at the time of birth. On detailed investigation, the child revealed to have anal atresia, hemisacrum, and presacral mass. Histopathology of presacral mass showed features of immature teratoma. The presacral mass in CS is mostly an anterior myelomeningocele or presacral teratoma. The development of immature teratoma in presacral mass is very rare. The histopathological identification of immature component of teratoma in the presacral mass of CS is important for risk stratification and further management. Suspicion of CS should be raised in any child presenting with partial phenotype of the triad.
Assuntos
Canal Anal , Anormalidades do Sistema Digestório , Reto , Sacro , Siringomielia , Teratoma , Humanos , Teratoma/patologia , Teratoma/cirurgia , Teratoma/diagnóstico , Masculino , Canal Anal/anormalidades , Canal Anal/cirurgia , Canal Anal/patologia , Sacro/anormalidades , Sacro/cirurgia , Sacro/patologia , Anormalidades do Sistema Digestório/cirurgia , Anormalidades do Sistema Digestório/diagnóstico , Anormalidades do Sistema Digestório/patologia , Anormalidades do Sistema Digestório/genética , Siringomielia/cirurgia , Siringomielia/genética , Siringomielia/patologia , Siringomielia/diagnóstico , Siringomielia/diagnóstico por imagem , Lactente , Reto/anormalidades , Reto/cirurgia , Reto/patologia , Anus Imperfurado/cirurgia , Anus Imperfurado/diagnóstico , Anus Imperfurado/genética , Anus Imperfurado/patologiaRESUMO
BACKGROUND: Anorectal malformations (ARMs) are congenital anomalies of the anorectum and the genitourinary system that result in a broad spectrum of hindgut anomalies. Despite surgical correction patients continue to have late postoperative genitourinary and colorectal dysfunction that have significant impact on quality of life. AIM: This paper will review the current evidence and discuss the evaluation and management of postoperative patients with ARMs who present with persistent defecation disorder. METHODS: A literature search was conducted using PubMed/MEDLINE/EMBASE databases applying the following terms: ARMs, imperforate anus, constipation, faecal incontinence, neurogenic bowel, posterior sagittal anorectoplasty. RESULTS: Patients who present with postoperative defecation disorders require timely diagnostic and surgical evaluation for anatomic abnormalities prior to initiation of bowel management. Goals of management are to avoid constipation in young children, achieve faecal continence in early childhood and facilitate independence in older children and adolescents. Treatment options vary from high dose stimulant laxatives to high-volume retrograde and antegrade enemas that facilitate mechanical colonic emptying. CONCLUSIONS: Appropriate diagnostic work-up and implementation of treatment can decrease long-term morbidity and improve quality of life in postoperative patients with ARMs who presents with defecation disorders.
Assuntos
Malformações Anorretais , Constipação Intestinal , Incontinência Fecal , Qualidade de Vida , Humanos , Malformações Anorretais/cirurgia , Malformações Anorretais/terapia , Malformações Anorretais/diagnóstico , Constipação Intestinal/terapia , Constipação Intestinal/etiologia , Constipação Intestinal/diagnóstico , Incontinência Fecal/terapia , Incontinência Fecal/etiologia , Complicações Pós-Operatórias , Anus Imperfurado/cirurgia , Anus Imperfurado/diagnóstico , Laxantes/uso terapêutico , Criança , Canal Anal/anormalidades , Canal Anal/cirurgiaRESUMO
PURPOSE: Congenital anorectal stenosis is managed by dilations or operative repair. Recent studies now propose use of dilations as the primary treatment modality to potentially defer or eliminate the need for surgical repair. We aim to characterize the management and outcomes of these patients via a multi-institutional review using the Pediatric Colorectal and Pelvic Learning Consortium (PCPLC) registry. METHODS: A retrospective database review was performed using the PCPLC registry. The patients were evaluated for demographics, co-morbidities, diagnostic work-up, surgical intervention, current bowel management, and complications. RESULTS: 64 patients with anal or rectal stenosis were identified (57 anal, 7 rectal) from a total of 14 hospital centers. 59.6% (anal) and 42.9% (rectal) were male. The median age was 3.2 (anal) and 1.9 years (rectal). 11 patients with anal stenosis also had Currarino Syndrome with 10 of the 11 patients diagnosed with a presacral mass compared to only one rectal stenosis with Currarino Syndrome and a presacral mass. 13 patients (22.8%, anal) and one (14.3%, rectal) underwent surgical correction. Nine patients (8 anal, 1 rectal) underwent PSARP. Other procedures performed were cutback anoplasty and anterior anorectoplasty. The median age at repair was 8.4 months (anal) and 10 days old (rectal). One patient had a wound complication in the anal stenosis group. Bowel management at last visit showed little differences between groups or treatment approach. CONCLUSION: The PCPLC registry demonstrated that these patients can often be managed successfully with dilations alone. PSARP is the most common surgical repair chosen for those who undergo surgical repair. LEVEL OF EVIDENCE: III.
Assuntos
Dilatação , Humanos , Masculino , Estudos Retrospectivos , Feminino , Lactente , Pré-Escolar , Constrição Patológica/cirurgia , Dilatação/métodos , Sistema de Registros , Malformações Anorretais/cirurgia , Malformações Anorretais/complicações , Criança , Resultado do Tratamento , Reto/anormalidades , Reto/cirurgia , Doenças Retais/terapia , Doenças Retais/cirurgia , Doenças Retais/congênito , Doenças Retais/diagnóstico , Canal Anal/anormalidades , Canal Anal/cirurgia , Anus Imperfurado/cirurgia , Anus Imperfurado/complicações , Anus Imperfurado/diagnósticoRESUMO
BACKGROUND: This study describes the presentation and initial management of anorectal malformation (ARM); evaluating the frequency, causes and consequences of late diagnosis. METHODS: A prospective, population cohort study was undertaken for newly diagnosed ARMs in the UK and Ireland from 01/10/2015 and 30/09/2016. Follow-up was completed at one year. Data are presented as n (%), appropriate statistical methods used. Factors associated with late diagnosis; defined as: detection of ARM either following discharge or more than 72 h after birth were assessed with univariable logistic regression. RESULTS: Twenty six centres reported on 174 cases, 158 of which were classified according to the type of malformation and 154 had completed surgical data. Overall, perineal fistula was the most commonly detected anomaly 43/158 (27%); of the 41 of these children undergoing surgery, 15 (37%) had a stoma formed. 21/154 (14%, CI95{9-20}) patients undergoing surgery experienced post-operative complications. Thirty-nine (22%) were diagnosed late and 12 (7%) were detected >30 days after birth. Factors associated with late diagnosis included female sex (OR 2.06; 1.0-4.26), having a visible perineal opening (OR 2.63; 1.21-5.67) and anomalies leading to visible meconium on the perineum (OR 18.74; 2.47-141.73). 56/174 (32%) had a diagnosis of VACTERL association (vertebral, anorectal, cardiac, tracheal, oesophageal, renal and limb); however, not all infants were investigated for commonly associated anomalies. 51/140 (36%) had a cardiac anomaly detected on echocardiogram. CONCLUSION: There is room for improvement within the care for infants born with ARM in the UK and Ireland. Upskilling those performing neonatal examination to allow timely diagnosis, instruction of universal screening for associated anomalies and further analysis of the factors leading to clinically unnecessary stoma formation are warranted. LEVEL OF EVIDENCE: II (Prospective Cohort Study <80% follow-up).
Assuntos
Malformações Anorretais , Diagnóstico Tardio , Humanos , Irlanda/epidemiologia , Feminino , Recém-Nascido , Masculino , Reino Unido/epidemiologia , Malformações Anorretais/diagnóstico , Malformações Anorretais/cirurgia , Malformações Anorretais/epidemiologia , Estudos Prospectivos , Diagnóstico Tardio/estatística & dados numéricos , Canal Anal/anormalidades , Canal Anal/cirurgia , Reto/anormalidades , Reto/cirurgia , Complicações Pós-Operatórias/epidemiologia , Complicações Pós-Operatórias/diagnóstico , Seguimentos , Traqueia/anormalidades , Traqueia/cirurgia , Anus Imperfurado/cirurgia , Anus Imperfurado/diagnóstico , Lactente , Esôfago/anormalidades , Esôfago/cirurgia , Deformidades Congênitas dos Membros/diagnóstico , Deformidades Congênitas dos Membros/cirurgia , Deformidades Congênitas dos Membros/epidemiologia , Cardiopatias Congênitas/diagnóstico , Cardiopatias Congênitas/cirurgia , Rim/anormalidades , Coluna Vertebral/anormalidadesRESUMO
Townes-Brocks syndrome (TBS) is an autosomal dominant disorder characterised by the triad of anorectal, thumb, and ear malformations. It may also be accompanied by defects in kidney, heart, eyes, hearing, and feet. TBS has been demonstrated to result from heterozygous variants in the SALL1 gene, which encodes zinc finger protein believed to function as a transcriptional repressor. The clinical characteristics of an atypical TBS phenotype patient from a Chinese family are described, with predominant manifestations including external ear dysplasia, unilateral renal hypoplasia with mild renal dysfunction, and hearing impairment. A novel heterozygous variant c.3060T>A (p.Tyr1020*) in exon 2 of the SALL1 gene was identified in this proband. Pyrosequencing of the complementary DNA of the proband revealed that the variant transcript accounted for 48% of the total transcripts in peripheral leukocytes, indicating that this variant transcript has not undergone nonsense-mediated mRNA decay. This variant c.3060T > A is located at the terminal end of exon 2, proximal to the 3' end of the SALL1 gene, and exerts a relatively minor impact on protein function. We suggest that the atypical TBS phenotype observed in the proband may be attributed to the truncated protein retaining partial SALL1 function.
Assuntos
Anormalidades Múltiplas , Perda Auditiva Neurossensorial , Fatores de Transcrição , Feminino , Humanos , Masculino , Anormalidades Múltiplas/genética , Anus Imperfurado/genética , Anus Imperfurado/diagnóstico , China , Análise Mutacional de DNA , Orelha/anormalidades , População do Leste Asiático/genética , Predisposição Genética para Doença , Hereditariedade , Heterozigoto , Mutação , Linhagem , Fenótipo , Polegar/anormalidades , Fístula Traqueoesofágica/genética , Fatores de Transcrição/genéticaRESUMO
We present three new and six published infants with overlapping features of LUMBAR syndrome (lower body hemangioma, urogenital anomalies, spinal cord malformations, bony deformities, anorectal/arterial anomalies and renal anomalies) and OEIS complex (omphalocele, exstrophy, imperforate anus, and spinal defects), also known as cloacal exstrophy. OEIS is included under the recently proposed umbrella coined recurrent constellations of embryonic malformations (RCEMs). The RCEMs represent a phenotypically overlapping spectrum of rare disorders of caudal dysgenesis with unknown cause but likely shared pathogenesis. It has recently been proposed that LUMBAR be considered an RCEM. This report of infants with combined features of OEIS and LUMBAR is the first to demonstrate an overlap between LUMBAR and another RCEM, which supports LUMBAR's inclusion within the RCEM spectrum.
Assuntos
Anormalidades Múltiplas , Anus Imperfurado , Humanos , Anus Imperfurado/genética , Anus Imperfurado/patologia , Anus Imperfurado/diagnóstico , Anormalidades Múltiplas/genética , Anormalidades Múltiplas/patologia , Anormalidades Múltiplas/diagnóstico , Feminino , Masculino , Recém-Nascido , Anormalidades Urogenitais/genética , Anormalidades Urogenitais/diagnóstico , Anormalidades Urogenitais/patologia , Hérnia Umbilical/diagnóstico , Hérnia Umbilical/patologia , Lactente , Síndrome , Cloaca/anormalidades , Cloaca/patologia , Hemangioma/patologia , Hemangioma/diagnóstico , Hemangioma/genética , Fenótipo , Coluna Vertebral/anormalidades , Coluna Vertebral/patologia , Coluna Vertebral/diagnóstico por imagem , EscolioseRESUMO
Urorectal septum malformation sequence (URSMS) is an uncommon disease characterized by a failure of the anorectal septum to divide the cloaca and fuse with the cloacal membrane. Complete URSMS is usually lethal in newborn due to severe renal dysfunction and pulmonary hypoplasia. Partial URSMS is compatible with life with a single perineal opening draining a common cloaca with an imperforate anus which amenable to surgical management. Antenatal diagnosis of URSMS is challenging because of multisystem, complex abnormalities involving gastrointestinal, urogenital tract, cardiovascular, and musculoskeletal systems. In this case report, we describe a 15-week male fetus with partial URSMS having a spectrum of multisystem structural anomalies associated with fetal neuroblastoma in retroperitoneal location and adrenal neuroblastoma in situ.
Assuntos
Anormalidades Múltiplas , Anus Imperfurado , Neuroblastoma , Anormalidades Urogenitais , Recém-Nascido , Humanos , Masculino , Feminino , Gravidez , Anormalidades Urogenitais/diagnóstico , Anus Imperfurado/diagnóstico , Feto , Anormalidades Múltiplas/diagnóstico , Neuroblastoma/diagnósticoRESUMO
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.
Assuntos
Humanos , Feminino , Criança , Anus Imperfurado/cirurgia , Anus Imperfurado/diagnóstico , Ureter , Infecções Urinárias , Vagina/anormalidades , RimRESUMO
Omphalocele, exstrophy of cloaca, imperforate anus, and spinal defects complex is a rare malformation complex that includes omphalocele, cloacal exstrophy, imperforate anus and spinal defects with the incidence of 1 in 200,000 to 400,000 pregnancies and is even rarer in twin gestation. The etiology of this complex is still unclear. Most cases are sporadic. Prenatal screening must be done for diagnosis and appropriate multidisciplinary management of cases. In severe cases, termination of pregnancy is considered. We present a 4-day first twin child with underdeveloped ambiguous genitalia delivered via emergency lower section cesarean section at 32+3 weeks of gestation with giant liver containing omphalocele, cloacal exstrophy, imperforate anus and meningocele with severe pulmonary artery hypertension and non-visualization of right kidney and ureter, absence of uterus, fallopian tubes and right ovary. Separation and repair of the cecum and bladder were done. The ladd procedure was performed. Ileostomy was created and single-stage repair of the abdominal wall was done. Keywords: anorectal malformations; bladder exstrophy; case reports; neural tube defects; umbilicus.
Assuntos
Anormalidades Múltiplas , Anus Imperfurado , Extrofia Vesical , Hérnia Umbilical , Criança , Animais , Humanos , Gravidez , Feminino , Anus Imperfurado/diagnóstico , Anus Imperfurado/cirurgia , Anus Imperfurado/complicações , Hérnia Umbilical/diagnóstico , Hérnia Umbilical/cirurgia , Hérnia Umbilical/complicações , Cloaca/cirurgia , Cloaca/anormalidades , Cesárea/efeitos adversos , Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/cirurgia , Extrofia Vesical/diagnóstico , Extrofia Vesical/cirurgia , Extrofia Vesical/etiologiaRESUMO
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 nonpermeable 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.
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.
Assuntos
Anus Imperfurado , Rim , Vagina , Humanos , Feminino , Adolescente , Dor Abdominal/etiologia , Náusea/etiologia , Anus Imperfurado/diagnóstico , Anus Imperfurado/cirurgia , Infecções Urinárias , Ureter/diagnóstico por imagem , Constipação Intestinal , Vagina/anormalidades , Vagina/diagnóstico por imagem , Cintilografia , Imageamento por Ressonância Magnética , Rim/diagnóstico por imagemRESUMO
Urorectal septum malformation sequence (URSMS) is characterized by a spectrum of anomalies of the urogenital system, hindgut and perineum. It is presumed to be a constellation of an embryonic defect. Herein, we analyzed the clinically diverse syndromes associated with URSMS in our perinatal evaluation unit. We reviewed fetuses with URSMS in referrals for perinatal autopsy over a period of 3 years. Chromosomal microarray and genome sequencing were performed whenever feasible. Literature was reviewed for syndromes or malformations with URSMS. We ascertained URSMS in 12 of the 215 (5%) fetuses. Nine fetuses (75%) had complete URSMS and remainder had partial/intermediate URSMS. Eleven fetuses had malformations of other systems that included: cerebral ventriculomegaly; right aortic arch with double outlet right ventricle; microcephaly with fetal akinesia deformation sequence; ventricular septal defect and radial ray anomaly; thoraco-abdominoschisis and limb defects; myelomeningocele; spina bifida and fused iliac bones; omphalocele; occipital encephalocele; lower limb amelia and cleft foot. We report on six fetuses with recurrent and five fetuses with unique malformations/patterns where URSMS is a component. Exome sequencing (one family) and genome sequencing (eight families) were performed and were nondiagnostic. Additionally, we review the literature for genetic basis of this condition. URMS is a clinically heterogeneous condition and is a component of several multiple malformation syndromes. We describe several unique and recurrent malformations associated with URSMS.
Assuntos
Anormalidades Múltiplas , Anus Imperfurado , Anormalidades Urogenitais , Gravidez , Feminino , Humanos , Síndrome , Anormalidades Urogenitais/diagnóstico , Anormalidades Urogenitais/genética , Anus Imperfurado/diagnóstico , Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/genética , FetoRESUMO
Anorectal malformations (ARM) in females are identified by abnormal location of the anal opening. Management is guided by clinical examination to find the number of perineal openings. Two openings in the perineum of a female may be seen in cases of imperforate anus without fistula, vaginal agenesis with vestibular fistula or imperforate anus with recto-vaginal fistula (RVF). We present a case series of ARM with RVF and discuss their diagnosis and management.
Assuntos
Malformações Anorretais , Anus Imperfurado , Humanos , Feminino , Fístula Retovaginal/diagnóstico , Fístula Retovaginal/cirurgia , Anus Imperfurado/diagnóstico , Períneo , Vagina/anormalidades , Canal Anal/anormalidades , Reto/anormalidadesRESUMO
OBJECTIVE: To explore the genetic basis for a child presented with renal failure and multi-cystic dysplastic kidney without anal atresia. METHODS: Peripheral blood sample of the child and his parents were collected and subjected to whole exome sequencing. Candidate variant was verified by Sanger sequencing. RESULTS: The 40-day-old infant had presented with vomiting brown matter in a 7 days neonate and was transferred for kidney failure. Clinical examination has discovered renal failure, polycystic renal dysplasia, congenital hypothyroidism, bilateral thumb polydactyly, sensorineural hearing loss and preauricular dermatophyte. Genetic testing revealed that he has harbored a previously unreported c.824delT, p.L275Yfs*10 frameshift variant of SALL1 gene, which was confirmed by Sanger sequencing as de novo. CONCLUSION: The patient was diagnosed with Townes-Brocks syndrome due to the novel de novo variant of SALL1 gene. Townes-Brocks syndrome without anal atresia is rare. Above finding has also enriched the mutational spectrum of the SALL1 gene.
Assuntos
Anus Imperfurado , Perda Auditiva Neurossensorial , Insuficiência Renal , Anormalidades Múltiplas , Anus Imperfurado/diagnóstico , Anus Imperfurado/genética , Criança , Feminino , Perda Auditiva Neurossensorial/diagnóstico , Perda Auditiva Neurossensorial/genética , Humanos , Lactente , Recém-Nascido , Masculino , Polegar/anormalidades , Fatores de Transcrição/genéticaRESUMO
Rectal duplications are rare congenital anomalies that represent 1%-6% of alimentary tract duplications. We report a case of a woman in her 50s who presented to our hospital with perianal pain and urinary retention. She had a history of imperforate anus repaired after birth and dynamic graciloplasty performed during her adulthood for faecal incontinence. Abdominal CT scan showed a fluid collection extending from the electrostimulator, placed in a subcutaneous pocket in the abdomen, to the rectouterine pouch. Infection related to the electrostimulator was assumed and, after a course of antibiotics without patient improvement, the electrostimulator was removed. The symptoms and the pelvic fluid collection persisted, and diagnostic laparoscopy was performed. Diagnosis of rectal duplication cyst was made intraoperatively, and the cyst was completely resected. Patient fully recovered after surgery. This is a rare case of a rectal duplication cyst presenting during adulthood and associated with imperforate anus.
Assuntos
Cavidade Abdominal , Anus Imperfurado , Cistos , Adulto , Anus Imperfurado/complicações , Anus Imperfurado/diagnóstico , Anus Imperfurado/cirurgia , Cistos/complicações , Cistos/diagnóstico , Cistos/cirurgia , Escavação Retouterina , Feminino , Trato Gastrointestinal , HumanosAssuntos
Anus Imperfurado/diagnóstico , Displasia Ectodérmica/diagnóstico , Transtornos do Crescimento/diagnóstico , Perda Auditiva Neurossensorial/diagnóstico , Hipotireoidismo/diagnóstico , Deficiência Intelectual/diagnóstico , Nariz/anormalidades , Pancreatopatias/diagnóstico , Criança , Humanos , Patologia MolecularRESUMO
Townes-Brocks syndrome (TBS) is a rare autosomal dominant syndrome, resulting from heterozygous variant in SALL1 gene and initially characterized by the triad of anorectal, thumb, and ear malformations. Essentially described in children, adult case reports are uncommon. Renal involvement has already been reported in adults and children but poorly described. Structural abnormalities such as hypodysplasia, unilateral renal agenesis or multicystic kidneys have been described, as well as functional impairment (with or without structural abnormalities) that may progress to end-stage renal disease (ESRD). We report two adult cases (mother and daughter) which exhibited kidney hypoplasia (focal and segmental glomerulosclerosis for the mother) and ESRD. The mother had unilateral polydactyly. TBS was suggested after physical examination. TBS diagnosis was confirmed by identification of a SALL1 variant. We conducted a literature review to evaluate the renal anomalies in TBS cases diagnosed in adulthood. Among 44 adult cases of TBS with genetic confirmation (including our two cases), 10 had kidney disease. The circumstances of renal failure diagnosis were incidental findings (2/5), gout (2/5), or repeated episodes of pyelonephritis (1/5). The median age of kidney disease diagnosis was 30 years old and of renal transplant 49 years old. The most frequent renal malformation was bilateral kidney hypoplasia. TBS is probably underestimated in adulthood and this report highlights that less obvious elements of morphology such as dysplasic ears can facilitate the diagnosis of TBS. As long-term prognosis of renal involvement in TBS patients remains largely unknown, a regular evaluation is required throughout life for patients.