"Currarino syndrome"

Currarino syndrome and microcephaly due to a rare 7q36.2 microdeletion: a case report Currarino syndrome is a rare condition characterized by presacral mass, anorectal malformation and sacral dysgenesis. We report the case of a child that presented chronic constipation, encopresis and mycrocephaly. The characteristics were initially compatible with a case of functional constipation and a therapy with polyethylene glycol was prescribed. After a year, because of poor response, a plain abdominal X-ray was performed, detecting sacrum abnormalities. Finally, a CGH-array analysis was performed and a form of Currarino Syndrome caused by a rare 7q36 microdeletion, was diagnosed. Occult spinal dysraphism should be suspected in case of poor polyethylene glycol responder constipation, even when evident sacral

Spectrum of MNX1 Pathogenic Variants and Associated Clinical Features in Korean Patients with Currarino Syndrome The major genetic cause of Currarino syndrome (CS), a congenital malformation syndrome typically characterized by sacral agenesis, anorectal malformation, and presence of a pre-sacral mass, is known to be pathogenic variants in motor neuron and pancreas homeobox 1 (MNX1), which exist

Carcinoid transformation of presacral dermoid cyst in patient with currarino syndrome: a case report. Currarino syndrome (CS) is a congenital disorder characterized by partial sacral agenesis, anorectal malformation and a presacral mass. Only three cases of carcinoid transformation of the presacral mass have been described in the literature. We present a case of carcinoid transformation of presacral dermoid cyst in patient with Currarino syndrome.

Currarino syndrome: does the presence of a genetic anomaly correlate with a more severe phenotype? A multicentre study. Currarino syndrome (CS) phenotype, initially described as the triad of hemisacrum, anorectal malformation (ARM) and presacral mass, can be extremely variable. The triad is often incomplete and 3 main CS phenotypical subtypes have been described: Complete, Mild and Minimal

Ectopic Vas Deferens Inserting Into Distal Retroiliac Ureter in the Currarino Syndrome. Vas deferens ectopia is a rare congenital anomaly frequently associated with anorectal abnormalities and hypospadias. We present a Currarino syndrome case with an ectopic vas deferens terminating in a distal retroiliac ureter. A left vasectomy, ureteral decussation over the iliac vessels, and a Cohen's-type

Comprehensive review of the duplication 3q syndrome and report of a patient with Currarino syndrome and de novo duplication 3q26.32-q27.2. Partial duplications of the long arm of chromosome 3, dup(3q), are a rare but well-described condition, sharing features of Cornelia de Lange syndrome. Around two thirds of cases are derived from unbalanced translocations, whereas pure dup(3q) have rarely been reported. Here, we provide an extensive review of the literature on dup(3q). This search revealed several patients with caudal malformations and anomalies, suggesting that caudal malformations or anomalies represent an inherent phenotypic feature of dup(3q). In this context, we report a patient with a pure de novo duplication 3q26.32-q27.2. The patient had the clinical diagnosis of Currarino syndrome (CS

Currarino Syndrome and the Effect of a Large Anterior Sacral Meningocele on Distal Colostogram in an Anorectal Malformation Currarino syndrome is a congenital disorder, consisting of a triad of anomalies including an anorectal malformation, sacral anomaly, and a presacral mass. Anterior sacral meningoceles are the most common presacral mass. A young child presented to our institution

A Very Rare Cause of Anal Atresia: Currarino Syndrome Currarino syndrome (triad) is an extremely rare condition characterized by presacral mass, anorectal malformation, and sacral bone deformation. The complete form of this syndrome displays all three irregularities. Herein, we report a male case who was admitted to our hospital with symptoms of urinary system infection and persistent constipation 2 years after colostomy operation performed with the indication of rectovestibular fistula and anal atresia, diagnosed as Currarino syndrome based on imaging modalities. In a patient who was admitted because of the presence of anal atresia, in order to preclude potential complications, probable concomitancy of this syndrome should not be forgotten. Early diagnosis is important for the prevention

Phenotype Analysis Impacts Testing Strategy in Patients With Currarino Syndrome. Currarino syndrome (OMIM 175450) presents with sacral, anorectal, and intraspinal anomalies and presacral meningocele or teratoma. Autosomal dominant loss-of-function mutations in the MNX1 gene cause nearly all familial and 30% of sporadic cases. Less frequently, a complex phenotype of Currarino syndrome can be caused by microdeletions of 7q containing MNX1. Here, we report one familial and three sporadic cases of Currarino syndrome. To determine the most efficient genetic testing approach for these patients, we have compared results from MNX1 sequencing, chromosomal microarray, and performed a literature search with analysis of genotype-phenotype correlation. Based on the relationship between the type

Malignant transformation in sacrococcygeal teratoma and in presacral teratoma associated with Currarino syndrome: A comparative study. The risk of malignant transformation of sacrococcygeal teratoma (SCT) and of presacral teratoma in Currarino syndrome (CS) may differ despite the similar position and appearance. Malignant transformation and teratoma recurrence were assessed in a national

Urological outcome in patients with Currarino syndrome. Currarino syndrome is a type of caudal regression syndrome characterized by the association of hemisacrum, anorectal malformation and presacral mass. Only few studies on small series report the incidence of urinary dysfunction in Currarino syndrome. Our aim was to evaluate the urological outcome in patients with Currarino syndrome. We retrospectively reviewed all Currarino syndrome patients treated in our institution. Of 20 patients, we could evaluate the urological outcome in 16. This group of patients underwent clinical, radiological and urodynamic evaluation. All 16 patients had a sacral defect, fourteen of them presenting a presacral mass (87.5%), eight a tethered cord (50%), and 7 anorectal malformations (43.7%). Eight patients

Anterior sacral meningocele in a patient with currarino syndrome as a cause of ileus. Currarino's syndrome (CS) is characterized by a triad of a sacral bony defect, anorectal malformations and presacral mass, most commonly an anterior sacral meningocele. Since it was first described as a syndrome by Currarino et al. in 1981, approximately 300 cases have been reported in the literature. Diagnosis

Familial Currarino syndrome associated with Hirschsprung disease: Two cases of a mother and daughter. Currarino syndrome with Hirschsprung disease (CS-HD) is extremely rare. We present the first family with CS-HD. Case 1: A 28-year-old woman was admitted with severe abdominal distension and dyspnea. She was diagnosed with anal stenosis, hemisacrum, anterior sacral meningocele (ASM), tethered cord and postoperative pathological examination on full-thickness rectal specimens. Some causal genes for Currarino syndrome (CS) and Hirschsprung disease (HD) are currently investigated. Thus far, 10 CS-HD cases have been reported, including 6 cases of familial CS. However, all the patients had sporadic HD. Recent reports suggest that anomalies of the enteric nerve system contribute to postoperative constipation

Urodynamic Findings in Patients With Currarino Syndrome. Currarino syndrome is an inherited disorder consisting of a triad of anorectal anomaly, sacrococcygeal defect and presacral mass. We evaluated the urological issues in patients with Currarino syndrome and sought to determine whether spinal cord detethering improves urinary tract function. We retrospectively reviewed 14 patients diagnosed with Currarino syndrome. We evaluated urinary signs/symptoms and urodynamic findings before and after spinal cord detethering. All patients with Currarino syndrome having a sacral defect and presacral mass were diagnosed between birth and 6 years. Of the patients 86% had a tethered spinal cord that was surgically detethered between 8 months and 6 years (average 3 years). Overall 10 of 12 children who underwent

A case of Currarino's syndrome presenting as neonatal bowel obstruction. We describe a male infant presenting in the neonatal period with bowel obstruction who had features of anal stenosis, a presacral teratoma, and a sacral anomaly consistent with Currarino's syndrome. Initial management involved a defunctioning colostomy followed by a posterior sagittal excision of the teratoma and repair of the anorectal defect. The proband's eldest sister is also affected with features of Currarino's syndrome but was diagnosed later in life. The proband, his sister, and the mother have been identified to have the HLXB9 mutation mapped to chromosome 7q36.

. 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

transformation of presacral dermoid cyst in patient with currarino syndrome: a case report. Br J Neurosurg. 2019 Jun. 33 (3):285-286. [QxMD MEDLINE Link]. 23. Sananes N, Javadian P, Schwach Werneck Britto I, Meyer N, Koch A, Gaudineau A, et al. Technical aspects and effectiveness of percutaneous fetal therapies for large sacrococcygeal teratomas: cohort study and literature review. Ultrasound Obstet

Multidisciplinary surgical treatment of presacral meningocele and teratoma in an adult with Currarino triad Currarino syndrome (CS) is a rare genetic condition that presents with the defining triad of anorectal malformations, sacral bone deformations, and presacral masses, which may include teratoma. Neurosurgeons are involved in the surgical treatment of anterior meningoceles, which are often

regression/Currarino syndromes (VACTERL association - Vertebral anomalies, Anal atresia, Cardiac defects, Tracheoesophageal fistula and/or Esophageal atresia, Renal & Radial anomalies and Limb defects). Using magnetic resonance imaging (MRI), we examined heart development in mouse embryos with zygotic and cardiac specific deletion of Pcsk5. We show that conditional deletion of Pcsk5 in all epiblastic

The Currarino triad: What pediatric surgeons need to know. We report our experience in managing a group of patients with Currarino syndrome, highlighting diagnostic challenges, surgical techniques, in addition to a review of current neurosurgical options. The study included patients with Currarino syndrome who presented to our pediatric surgery department during the period 2010 through 2016 , the management of Currarino syndrome is similar to the usual management of ARM regarding the surgical approach and probably the prognosis that mainly depends on degree of associated sacral dysplasia. This is a case series with no comparison group (level IV).