What is Currarino syndrome?
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 …
How common is Currarino syndrome?
It occurs in approximately 1 in 100,000 people. Anterior sacral meningocele is the most common presacral mass in patients with Currarino syndrome occurring in 60% of cases….
| Currarino syndrome | |
|---|---|
| Other names | Currarino triad |
| An X-ray showing Imperforate anus |
What is anterior sacral meningocele?
Anterior sacral meningocele (ASM) is an anomaly where the meninges protrude into retroperitoneal and presacral space through an anterior sacral defect. Most of the cases present in adult age and diagnosis in childhood is rare. Common presentations include infection, meningitis and obstetric problems.
Is sacral agenesis rare?
It can extend further again into the thoracic spine, but this is very rare. The terms caudal regression syndrome and caudal dysplasia are often used interchangeably with sacral agenesis. How common is sacral agenesis? The reported incidence of sacral agenesis varies from 1 in 10,000 to 1 in 100,000 live births.
What is Caudal Regression Syndrome?
Caudal regression syndrome is a broad term for a rare complex disorder characterized by abnormal development of the lower (caudal) end of the spine. The spine consists of many small bones (vertebrae) that collectively form the spinal column.
Where is the anterior sacral foramina?
sacrum
The anterior (or pelvic) sacral foramina are openings in the concave anterior surface of the sacrum through which the anterior divisions of the sacral nerves and the lateral sacral arteries pass.
What causes meningocele?
What causes meningomyelocele? Doctors don’t know exactly why this condition occurs. It’s possible that a lack of folic acid before and during early pregnancy impairs the development of the spinal cord. The condition may also be partly genetic.
Can you walk if you have sacral agenesis?
Lower limb complications can range from very minor walking difficulties or abnormalities, to complete paralysis of the lower limbs requiring the use of a wheelchair. Some children with sacral agenesis may also have lower leg deformities which may require orthoses or corrective surgery.
Do sacral dimples go away?
Most sacral dimples are completely harmless and do not require treatment.
Can you see caudal regression syndrome on ultrasound?
Prenatal ultrasonographic diagnosis of caudal regression syndrome is possible at 22 weeks’ of gestation by ultrasound examination.
What is the purpose of sacral foramina?
The foramina give exit to the anterior divisions of the sacral nerves and entrance to the lateral sacral arteries. Each part at the sides of the foramina is traversed by four broad, shallow grooves, which lodge the anterior divisions of the sacral nerves.
What is sacral bone?
Overview. The sacrum is a shield-shaped bony structure that is located at the base of the lumbar vertebrae and that is connected to the pelvis. The sacrum forms the posterior pelvic wall and strengthens and stabilizes the pelvis.
What kind of anomalies does Currarino syndrome have?
Currarino syndrome is a multiple congenital anomalies syndrome characterized by partial agenesis of the sacrum in association with pelvic malformation.
What are the mutations in the Currarino gene?
The disorder is an autosomal dominant genetic trait caused by a mutation in the HLXB9 homeobox gene. 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 not for other forms of sacral agenesis.
How does Currarino syndrome affect the back of the pelvis?
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 (3) there are malformations of the anus or rectum.
Are there any cases of leiomyomatosis in Currarino syndrome?
One report of leiomyosarcoma in a grandmother of an affected child with Currarino has been reported (Norum 1991). In addition, a further case of Leiomyomatosis peritonealis disseminate (LPD) in a 27 year old female with Currarino syndrome has been described in the literature (Nappi 2006).