A report describing currarino syndrome with ventriculomegaly due to a arnoldchiari type ii malformation must be interpreted with caution. 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. Pts may present similarly to hirschsprung disease hd in early infancy. And now, its connected to the adobe document cloud. Currarino syndrome sacral agenesis triphalangeal thumbpolysyndactyly syndrome xray repair 158 million base pairs beckwithwiedemann syndrome cyclindependent kinase inhibitor dopamine receptor autonomic nervous system dysfunction long qt syndrome jervell and langenielsen syndrome. Adobe acrobat reader dc software is the free global standard for reliably viewing, printing, and commenting on pdf documents. Currarinosilverman syndrome pectus carinatum type 2. Currarino syndrome currarino triad was described in 1981 as a triad syndrome with a common. A rare disorder characterized by bone abnormalities in the chest region.
The complete currarino triad or syndrome consists of anorectal anomalies, a sacral bony defect, and a presacral mass. Currarino syndrome and the effect of a large anterior sacral meningocele on distal colostogram in an anorectal malformation. The currarino triad, as first described in 1981, consists of 1 an anorectal malformation, 2 an anterior sacral defect and 3 a presacral mass, which may be a teratoma, meningocele, neurenteric cyst or combined lesion 1. The mother and brother also had currarino syndrome without these added features.
Currarino syndrome is a congenital disorder characterized by the clinical. Currarino syndrome includes clinical findings such as a bowel obstruction, along with gynecological and renal malformations. The currarino triad, as first described in 1981, consists of 1 an anorectal malformation, 2 an anterior sacral defect and 3 a presacral mass, which may be a teratoma, meningocele, neurenteric cyst or combined lesion. The syndrome occurs in the majority of patients as an autosomal dominant trait. Complete currarino syndrome in an adult, presenting as a. Human genome landmarks oak ridge national laboratory. Currarino syndrome has an autosomal dominant pattern of inheritance. Generally autosomal dominant in its inheritance, incomplete penetrance also characterizes this syndrome.
Aug 10, 2010 the patient had pelvic floor abnormalities and an hlxb9 gene deletion on the 7q36 locus, consistent with currarino syndrome. We present a rare pediatric case of cs associated with hirschsprungs disease hd. Failure of formation of all or part of the sacrum the lowest section of the spine. Sacral spine radiograph, contrast enema and mri are diagnostic. Here are links to possibly useful sources of information about currarino syndrome. In 1995, the underlying gene defect causing currarino syndrome was localised to chromosome 7q36 and, recently, mutations in a homeobox gene. Pdf to report on a female patient diagnosed with currarino s triad in adulthood. Currarino silverman syndrome, also known as pectus carinatum type 2 deformity, is a rare disorder. Currarino silverman syndrome is a rare disorder charac terized by premature fusion ofmanubriosternal joint and the sternal segments, resulting in a high carinate chest. Request pdf new clinical and therapeutic perspectives in currarino syndrome study of 29 cases the aim of the study was to clearly define the anomalies that compose the currarino syndrome cs. The mother had a previous pregnancy in which the newborn had complex malformations consistent with currarino syndrome, including sickleshaped sacrum, anorectal malformation, and presacral teratoma. Currarino syndrome is caused by abnormality in the canalization and retrogressive differentiation of caudal cell mass formed by secondary neurulation 12.
Health, general anorectal fistula health aspects caudal regression syndrome care and treatment diagnosis risk factors magnetic resonance imaging usage meningomyelocele. Currarinosilverman syndrome definition of currarino. Complete currarino syndrome recognized in adulthood. The currarino syndrome see this term is a form of caudal regression syndrome characterized by the classic triad of presacral mass, sacral bone defect and anorectal malformation in which an autosomal dominant inheritance has been described with mutation or deletion of. Clinical presentation patients present with a high carinate chest deformity due to a premature fusion of the manubriosternal joint and sternal os. Pediatric radiological case, report, case study by applied radiology. Currarino syndrome cs is a rare condition defined by a triad consisting of anorectal malformations, sacral bone deformities, and presacral masses.
Addition clinical manifestations include tethered cord andor lipoma of the conus. It is usually diagnosed in childhood and females seem to be more affected 2, 5. It is also known as the currarino triad or asp triad, however, not all three features are always present 6 anorectal malformation or congenital anorectal stenosis. Looking for online definition of currarino silverman syndrome in the medical dictionary. Currarino silverman syndrome pectus carinatum type 2 deformity and mitral valve disease balasubrahmanyam chidambaram, m. This syndrome is thought to result from abnormal separation of the neuroectoderm.
Mar 30, 2016 currarino triad or syndrome is an autosomal dominant hereditary condition which is characterized by the triad of sacral agenesis abnormalities abnormally developed lower spine, anorectal malformation most commonly in the form of anorectal stenosis and presacral mass consisting of a teratoma, anterior sacral meningocele or both. Autosomal dominant sacral agenesis is characterised by a partial agenesis of the sacrum typically involving sacral vertebrae s2s5 only. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. The characteristics were initially compatible with a case of functional constipation and a therapy with polyethylene glycol was prescribed. The complete form of this syndrome shows all three abnormalities and is rarer than the incomplete form which includes one or two of the disease components mentioned above. Partial currarino syndrome in adulthood mistaken for a simple presacral mass. Complete currarino syndrome recognized in adulthood article pdf available in journal of clinical imaging science 275. Symptoms of currarino silverman including 4 medical symptoms and signs of currarino silverman, alternative diagnoses, misdiagnosis, and correct diagnosis for currarino silverman signs or currarino silverman symptoms. Currarino syndrome in an adult presenting with a presacral.
The currarino s syndrome is a rare inherited disorder. Typical images of a rare condition article pdf available in techniques in coloproctology 143. Anorectal malformation, currarino syndrome, hemisacrum. Report of five consecutive patients article pdf available in child s nervous system 303 september 20 with 195 reads how we measure reads. Aug 10, 2010 the currarino triad, as first described in 1981, consists of 1 an anorectal malformation, 2 an anterior sacral defect and 3 a presacral mass, which may be a teratoma, meningocele, neurenteric cyst or combined lesion. Sacral agenesis, hereditary, with presacral mass, anterior meningocele, andor teratoma, and anorectal malformation.
Currarino syndrome definition of currarino syndrome by. Currarino syndrome uncountable a congenital disorder where the sacrum is malformed, there is a mass in the presacral space, and there are malformations of the anus or rectum. This syndrome is thought to result from abnormal separation of the neuroectoderm from the endoderm. Currarinos triad, although consisting of three groups of abnormalities, includes a wide variability of phenotypes. Associated features include anorectal malformation, a presacral mass, and urogenital malformation. Meaning of currarinosilverman syndrome medical term.
The disorder is an autosomal dominant genetic trait caused by a mutation in the hlxb9 homeobox gene. The currarino syndrome is a complex condition variably comprised of characteristic congenital anomalies of the sacrum, anorectum and presacral soft tissues. Caudal regression sequence genetic and rare diseases. Currarino triad or syndrome is an autosomal dominant hereditary condition. We report the case of a child that presented chronic constipation, encopresis and mycrocephaly. In 2000 the first large series of currarino cases was genetically screened for hlxb9 mutations, and it was shown that the gene is specifically causative for the syndrome, but. Currarino triad or syndrome is an autosomal dominant hereditary condition which is characterized by the triad of sacral agenesis abnormalities abnormally developed lower spine, anorectal malformation most commonly in the form of anorectal stenosis and presacral mass consisting of a teratoma, anterior sacral meningocele or both. Currarino syndrome is a rare hereditary syndrome that includes anorectal malformation, sacrococcygeal defect and presacral mass. Antenatal diagnosis of currarino s syndrome is difficult and may prove to be a challenge even in the postnatal period. Our aim was to report the neurosurgical management of currarino syndrome in children and adults and to describe what clinician could do if the currarino triad was suspected. It is well established that currarino syndrome cs may be associated with spinal dysraphism. Currarino triaddiagnostic dilemma and a combined surgical.
Currarino syndrome is a rare inherited disorder that is characterized by sacrococcygeal bone defect, presacral mass, and anorectal malformation. Currarino syndrome cs is a rare autosomal dominant disorder with variable phenotypes including sacral abnormalities, genitourinary malformations, anorectal and gynecological anomalies and presacral tumors. Pdf complete currarino syndrome recognized in adulthood. Meaning of currarino silverman syndrome medical term. Currarinos syndrome in twins presenting as neonatal. Currarino syndrome associated with hirschsprungs disease. 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. This article presents two cases of currarino syndrome, where there was rare. Currarino syndrome is a condition characterized by the combination of. The currarino syndrome is regarded as a developmental disorder based on its recognized etiological heterogeneity. Currarino syndrome genetics exeter clinical laboratory. Case report open access currarino syndrome in an adult presenting with a presacral abscess.
Case report open access currarino syndrome in an adult. Currarinosilverman symptoms, diagnosis, treatments and. Lippincott journals subscribers, use your username or email along with your password to log in. Currarino syndrome and microcephaly due to a rare 7q36.
Currarino triad genetic and rare diseases information center. The complete form is characterized by the presence of anorectal malformation usually stenosis, presacral mass and bone defects of the sacrum. Adobe acrobat reader dc download free pdf viewer for. The affected child was dysmorphic with hypertelorism, a short enlarged neck and camptodactyly. Currarino syndrome is a multiple congenital anomalies syndrome characterized by partial agenesis of the sacrum in association with pelvic malformation. Currarino syndrome and the effect of a large anterior sacral. A presacral tumor pt is a rare, congenital abnormality. Apr 15, 2020 this gene encodes a nuclear protein, which contains a homeobox domain and is a transcription factor. Its the only pdf viewer that can open and interact with all types of pdf content, including. Together, these features have been defined as the currarino syndrome. They all cover the typical skills preschoolers usually work on throughout the year. Currarino syndrome is a condition where the sacrum the fused vertebrae forming the back of the pelvis is not formed properly, there is a mass in the presacral space in front of sacrum, and there are malformations of the anus or rectum.
Through this case report, we share our experiences regarding patients with a pt mimicki. Molecular pathology defects in mnx1hlxb9, which encodes a nuclear transcription factor involved in pancreas development and. Currarino syndrome exhibits variable expressivity and the clinical presentation tends. It has been suggested that disease of milder severity can be successfully managed by conservative treatment. The trip database provides clinical publications about evidence. Several incomplete forms of cs with variable phenotypes are described, since the only mandatory clinical feature for cs diagnosis is the sacral anomaly 1.
Currarino s syndrome presenting with identical neonatal low intestinal obstruction in a nonidentical set of twins is rare and interesting. Currarino triad includes hemisacrum, presacral mass anterior meningocele, enteric cyst, andor presacral teratoma and anorectal anomalies umls. It is also known as the currarino triad or asp triad, however, not all three features are always present 6. Currarino syndrome cs was first reported by currarino et al.
Neurosurgeons are involved in the surgical treatment of anterior meningoceles, which are often associated with this condition. The triad of a presacral tumor, sacral agenesis and anorectal malformation constitutes the currarino syndrome which is caused by dorsalventral patterning defects during embryonic development. Currarino syndrome in a fetus, infant, child, and adolescent. Partial absence of the sacrum the lowest portion of spine, anorectal anal and rectal abnormalities, and. Currarino syndrome is listed as a rare disease by the office of rare diseases ord of the national institutes of health nih. Anal atresia and the presence of a presacral mass teratoma andor anterior meningocoele make up the so called currarino triad. The currarino triad involves the association of partial sacral agenesis with intact first sacral vertebra sickleshaped sacrum, a presacral mass, and anorectal malformation currarino et al. Partial sacral agenesis with intact first sacral vertebra, presacral mass and anorectal malformation. Currarino syndrome in an adult woman europe pmc article. We report the case of a 12dayold patient with vomiting in whom a diagnosis of incomplete currarino syndrome was made. The information on this page was automatically extracted from online scientific databases. More detailed information about the symptoms, causes, and treatments of currarino silverman is available below symptoms of currarino silverman. We describe here an unusual case of currarino syndrome in an adult presenting with a presacral abscess but no meningitis. The specific sacral anomaly is distinct to this syndrome.
More detailed information about the symptoms, causes, and treatments of currarino silverman is available below. Currarinos triad diagnosed in an adult woman springerlink. Currarino syndrome symptoms, causes, diagnosis, and treatment information for currarino syndrome currarino triad with alternative diagnoses, fulltext book chapters, misdiagnosis, research treatments, prevention, and prognosis. This gene encodes a nuclear protein, which contains a homeobox domain and is a transcription factor. Partial currarino syndrome in adulthood mistaken for a simple. Cs is an autosomal dominant inherited disorder caused by a mutation in the hlxb9 homeobox gene located on chromosome 7q36. Currarinosilverman syndrome radiology reference article.
Rare clinical variants bindey kumar 1, amit kumar sinha 1, prem kumar 2, anil kumar 3 1 department of pediatric surgery, all india institute of medical sciences aiims, patna, bihar, india 2 department of radiology, all india institute of medical sciences aiims, patna, bihar, india 3 department of general surgery, all india institute of medical sciences aiims, patna. Currarino syndrome is a rare condition characterized by presacral mass, anorectal malformation and sacral dysgenesis. Currarino syndrome cs is a rare congenital disease characterized by the triad of anorectal. It usually manifests as persistent constipation in a child but its clinical presentation is variable. Health, general anorectal fistula health aspects caudal regression syndrome care and treatment diagnosis risk factors magnetic resonance imaging usage. Preschool age starts at the age of 3 and continues all the way until the age of 5 when most children enter kindergarten. Mutations in this gene result in currarino syndrome, an autosomic dominant congenital malformation. Presentation of incomplete currarino triad in a 12dayold. Proper treatment of currarino syndrome varies according to the severity of the case. This means that currarino syndrome, or a subtype of currarino syndrome, affects less than 200,000 people in the us population. Currarino silverman cs syndrome, also known as pectus carinatum type 2 or pouter pigeon breast, is a rare deformity and is probably caused by premature fusion of some of the sternal ossification centers and by obliteration of the manubriosternal joint.
Currarino syndrome caused by diseasecausing variants in the mnx1 gene is a congenital disorder characterized by agenesis of the sacrum, anal atresia and a presacral mass. Pdf the currarino syndrome is regarded as a developmental disorder. Currarino syndrome is a rare congenital disorder characterized by a triad. Pdf currarino syndrome cs is a rare clinical condition. Currarino syndrome cs is a rare congenital malformation characterized by the triad. Recently, hlxb9 has been identified as the major causative gene in currarino syndrome. Currarino syndrome and the effect of a large anterior. Alaa elkheir 1, charif khaled 1, raia doumit 2, chawki nohra 3 and antoine khoneisser 1. New clinical and therapeutic perspectives in currarino. Ideal sources for wikipedia s health content are defined in the guideline wikipedia.
811 568 1639 1634 676 1373 831 114 324 597 1484 1501 333 944 1528 1060 1326 821 61 1567 311 1150 1290 10 1068 351 675 1240 901 1057 1340 318 474 728 1271 370 16