Jan 19, 2018 the currarino triad is a rare hereditary syndrome comprising anorectal malformation, sacral bony defect, and presacral mass. Currarino syndrome atlas of genetics and cytogenetics in. Phenotype analysis impacts testing strategy in patients with. Currarino syndrome and microcephaly due to a rare 7q36. Overall, longterm outcomes of children born with cs are not well described. Her condition improved with antibiotics and early surgical treatment. Based on familial history and radiologic images, currarino syndrome was suspected. Since literature concerning the syndrome is rarely seen in. 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 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. Spectrum of mutations and genotypephenotype analysis in. The complete form of this entity displays all three abnormalities and is very uncommon. Onestage surgery via posterior approach was successful.
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. Currarinosilverman syndrome definition of currarino. Novel mnx1 mutations and clinical analysis of familial and. Leiomyomatosis peritonealis disseminata lpd is a rare disease in which multiple smooth muscle or smooth musclelike nodules develop subperitoneally in any part of the abdominal cavity. The currarino syndrome is an inherited congenital disorder where either the sacrum the fused vertebrae forming the back of the pelvis is not formed properly, or there is a mass in the presacral space in front of the sacrum, and there are malformations of the anus or rectum. Currarino triad genetic and rare diseases information. The characteristics were initially compatible with a case of functional constipation and a therapy with polyethylene glycol was prescribed. Currarino syndrome cs is a rare autosomal dominant disease that has been described as a triad of partial sacral agenesis, anorectal anomalies, and a presacral mass. Pdf currarino syndrome cs is a rare clinical condition. Anal atresia and the presence of a presacral mass teratoma andor anterior meningocoele make up the so called currarino triad. Currarino syndrome is a rare condition characterized by presacral mass, anorectal malformation and sacral dysgenesis. Surgical management for a huge presacral teratoma and a. Currarino syndrome cs is a rare condition defined by a triad consisting of anorectal malformations, sacral bone deformities, and presacral masses. Complete currarino syndrome recognized in adulthood.
Urinary retention did not respond to medical treatment, the patient underwent cystoscopy. We describe here an unusual case of currarino syndrome in an adult presenting with a presacral abscess but no meningitis. The triad of anorectal malformation, sacral bony abnormality and a presacral mass was first described by bryant in 1838. The role of mr imaging in the diagnosis and treatment of. Phenotype analysis impacts testing strategy in patients. Complete currarino syndrome in an adult, presenting as a. Sacral agenesis in a triad of anorectal malformation, sacral bony abnormality and a presacral mass which may be a meningocele, a teratoma or an enteric cyst is known as currarino syndrome. A 27 yearold patient referred to our gynaecology unit for pelvic pain, amenorrhoea. Currarino syndrome is a multiple congenital anomalies syndrome characterized by partial agenesis of the sacrum in association with pelvic malformation. Currarino syndrome consists of autosomal dominant hereditary sacral dysgenesis that is caused by mutations of the hox gene, hlxb9. The syndrome occurs in the majority of patients as an autosomal dominant trait. In addition to these core component features, patients may also have other congenital anomalies.
Currarino syndrome cs is a rare symptom complex comprising an anorectal malformation, a sacral bone abnormality and a presacral mass. Vacterlvater association is typically defined by the presence of at least three of the following congenital malformations. The family and pregnancy history were noncontributory. Currarino syndrome is a triad of sacral defect, anorectal malformation and a presacral mass. Recently, hlxb9 has been identified as the major causative gene in currarino. Here, we report one familial and three sporadic cases of currarino syndrome.
We report the case of a child that presented chronic constipation, encopresis and mycrocephaly. The currarino syndrome cs, defined by the triad of anorectal. The homeobox gene motor neuron and pancreas homeobox1 mnx1, formerly hlxb9 is implicated in almost all familial cases and 30% of sporadic cases of cs. Recently, hlxb9 has been identified as the major causative gene in currarino syndrome. Involvement of the hlxb9 homeobox gene in currarino syndrome. Clinical and genetic analysis of hlxb9 gene in korean. Currarino syndrome cs is characterized by the triad of anorectal. Partial currarino syndrome in adulthood mistaken for a. Sacrococcygeal bone defect is almost always a part of the. Currarino syndrome is a rare inherited disorder that is characterized by sacrococcygeal bone defect, presacral mass, and anorectal malformation. Recurrent sepsis of the perianal area is a welldescribed postoperative morbidity.
It is also known as the currarino triad or asp triad, however, not all three features are always present 6. Partial sacral agenesis with intact first sacral vertebra. Currarino syndrome as an etiology of a neonatal escherichia coli. Currarinosilverman syndrome is a rare disorder characterized by premature fusion of manubriosternal joint and the sternal segments, resulting in a high carinate chest deformity. New clinical and therapeutic perspectives in currarino. May 26, 2010 currarino syndrome cs is a rare autosomal dominant disorder with variable phenotypes including sacral abnormalities, genitourinary malformations, anorectal and gynecological anomalies and presacral tumors.
In this report, we present the magnetic resonance imaging findings of a case with. This study evaluates the feasibility and outcomes of laparos. Less frequently, a complex phenotype of currarino syndrome can be caused by microdeletions of 7q containing mnx1. The trip database provides clinical publications about evidence. This results in severe complications following simple mass resection. Currarino syndrome is a hereditary pathology that is characterized by sacrococcygeal bone defect, presacral mass, and 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. Currarino syndrome has an autosomal dominant pattern of inheritance.
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 genotypephenotype correlation. Currarino syndrome is a rare congenital disease and its appearance in adulthood is exceptional. May 25, 2018 currarino syndrome is a rare condition characterized by presacral mass, anorectal malformation and sacral dysgenesis. Tell a friend about us, add a link to this page, or visit the webmasters page for free fun content. Sacral malformation, presacral mass, and anorectal malformations comprise the classic triad, but other common symptoms and malformations include neonatal. 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. The symptom information on this page attempts to provide a list of some possible signs and symptoms of currarinosilverman. Anterior sacral meningocele is the most common presacral mass in. Currarino triad want to thank tfd for its existence. This is a temporary file and hence do not link it from a website, instead link the url of this page if you wish to link the pdf file. Currarino syndrome in a fetus, infant, child, and adolescent. Currarino silverman syndrome is a rare disorder characterized by premature fusion of manubriosternal joint and the sternal segments, resulting in a high carinate chest deformity.
Partial currarino syndrome in adulthood mistaken for a simple presacral mass. In addition to other abnormalities, more than one presacral lesion may coexist in the same patient. Treatment of the presacral mass in the currarino triad. Aug 30, 2001 the triad of a presacral tumour, sacral agenesis and anorectal malformation constitutes the currarino syndrome which is caused by dorsalventral patterning defects during embryonic development. Currarino syndrome currarino triad was described in 1981 as a triad syndrome with a common embryogenesis in infants and with three characteristics. Currarino et al 1, in 1981, described a rare congenital complex syndrome currarino syndrome cs characterized by a sacral bone defect, a congenital hindgut anomaly, and a presacral tumor. 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. Sacrococcygeal bone defect is almost always a part of the syndrome. Complete currarino syndrome recognized in adulthood journal. This is a temporary file and hence do not link it from a website, instead link the url of this page if you wish to link the pdf. Pdf the currarino syndrome is regarded as a developmental disorder based on its recognized etiological.
No reports of multiple congenital malformations associated with lpd have been found in the english literature. Currarino syndrome cs is a rare autosomal dominant disease that has been described as a triad of partial sacral agenesis, anorectal anomalies. Neural tube defects are frequently associated malformation 2,3. A case of constipation that passed from father to son.
A collection of disease information resources and questions answered by our. Microcephaly, sensorineural deafness and currarino triad with duplicationdeletion of distal 7q. The currarinos triad or syndrome cs is an autosomal dominant hereditary condition which is a variant of caudal regression syndrome characterised by the triad of sacral agenesis abnormalities, anorectal malformation most commonly in the form of anorectal stenosis and presacral mass consisting of a teratoma, anterior sacral meningocele or both. Alaa elkheir, charif khaled, raia doumit, chawki nohra and antoine khoneisser.
Currarino triad includes hemisacrum, presacral mass anterior meningocele, enteric cyst, andor presacral teratoma and anorectal anomalies umls. The diagnosis is usually made late in childhood and about 50% of cases are familial with autosomal dominant inheritance. Leiomyomatosis peritonealis disseminata in association. Pdf complete currarino syndrome recognized in adulthood. An otherwise healthy 7yearold boy presented to the gastroenterology clinic with a history of longstanding constipation and encopresis. Autosomal dominant sacral agenesis is characterised by a partial agenesis of the sacrum typically involving sacral vertebrae s2s5 only. The disorder is an autosomal dominant genetic trait caused by a mutation in the hlxb9 homeobox gene. Guido carlo currarino, a pioneer in the subspecialty of pediatric radiology who taught generations of ut southwestern medical center residents and fellows during a 30year career as a faculty member, died on dec.
Currarino syndrome in an adult presenting with a presacral. Addition clinical manifestations include tethered cord andor lipoma of the conus. Abstract currarino syndrome is a rare congenital disease and its appearance in adulthood is. Currarino syndrome cs is characterized by the triad of sacral anomalies, presacral tumor, and anorectal malformation arm. He was particularly interested in congenital abnormalities, two of which bear his name. C1867788 molecular basis caused by mutation in the homeoboxhb9 gene hlxb9, 142994. 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. Currarinosilverman syndrome pectus carinatum type 2.
Currarinosilverman 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. In our cohort, 38% had a sickle shaped sacrum with a left sided defect and 37% had a similar sickle shaped sacrum with a right sided defect. The currarino syndrome is a complex condition variably comprised of characteristic congenital anomalies of the sacrum, anorectum and presacral soft tissues. It is well established that currarino syndrome cs may be associated with spinal dysraphism. Complete currarino syndrome recognized in adulthood article pdf available in journal of clinical imaging science 275. Currarino syndrome includes clinical findings such as a bowel obstruction, along with gynecological and renal malformations. The past medical history was significant for an intermediate level anal bar causing an imperforate anus, requiring a minor anoplasty in the neonatal period.
Several authors have reported malignant degeneration of the presacral tumor. Associated features include anorectal malformation, a presacral mass, and urogenital malformation. Currarino syndrome omim 175450 presents with sacral, anorectal, and intraspinal anomalies and presacral meningocele or teratoma. An unusual cause for recurrent perianal sepsis in currarino. Currarino syndrome tuberculosis perianal sepsis abstract currarino syndrome cs is a rare symptom complex comprising an anorectal malformation, a sacral bone abnormality and a presacral mass.
A 44yearold man was diagnosed with currarino triad, with a huge presacral teratoma and meningocele. In most patients, this mass is a teratoma, an anterior myelomeningocele ammc, or a combination of both 4, 6, 8, 17. We report the case of a 4yearold boy with cs and chronic perianal sepsis in the. Partial currarino syndrome in adulthood mistaken for a simple. This signs and symptoms information for currarinosilverman has been gathered from various sources, may not be fully accurate, and may not be the full list of currarino. Although over 300 patients with currarinos triad have been reportedtreated, there is no consensus regarding their optimal conservative versus surgical. A laterecognized currarino syndrome in an adult revealed by an. 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. Currarino triad genetic and rare diseases information center. Recurrent sepsis of the perianal area is a welldescribed. As defined in the original reports, patients affected by true cs always exhibit the typical hemisacrum, with intact first sacral vertebra sickleshaped sacrum, which makes this. Currarinos syndrome misinterpreted as hirschsprungs disease for 17 years.
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. Sanger sequencing of mnx1 gene, encoding for the motor neuron and pancreas homeobox protein 1, confirmed the diagnosis by identifying the known pathogenic mutation p. A rare cause of chronic constipation gastroenterology. Currarino was a charter member of the society for pediatric radiology spr. The triad of a presacral tumour, sacral agenesis and anorectal malformation constitutes the currarino syndrome which is caused by dorsalventral. Symptom relief of leiomyomatosis peritonealis disseminata with ulipristal. Here are links to possibly useful sources of information about currarino syndrome. A previously unreported mutation in a currarino syndrome. Currarino syndrome as an etiology of a neonatal escherichia coli meningitis.
Symptom relief of leiomyomatosis peritonealis disseminata with ulipristal acetate. The currarino triad is an autosomal dominant disorder linked to the 7q36 region 5, 10, 12. Longterm functional outcomes in children with currarino syndrome. 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.
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. Currarino syndrome has a genetic basis, and in familial cases, inheritance is autosomal dominant with low penetrance. If you have problems viewing pdf files, download the latest version of adobe. It is neglected in the typical differential diagnosis of a presacral mass. Laparoscopicassisted anorectal pullthrough for currarino. Among the various heart lesions reported in this syndrome, mitral valve disease and coarctation of the aorta have not yet been described to our knowledge. Currarino syndrome currarino syndrome iyer, ramesh. It consists of a bony sacral defect, an anorectal malformation, and a presacral mass 1, 6. Ideal sources for wikipedia s health content are defined in the guideline wikipedia.
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