Currarino syndrome is an inherited

congenital disorder A birth defect, also known as a congenital disorder, is an abnormal condition that is present at birth regardless of its cause. Birth defects may result in disabilities that may be physical, intellectual, or developmental. The disabilities c ...

where either the

sacrum The sacrum (plural: ''sacra'' or ''sacrums''), in human anatomy, is a large, triangular bone at the base of the spine that forms by the fusing of the sacral vertebrae (S1S5) between ages 18 and 30. The sacrum situates at the upper, back part o ...

(the fused vertebrae forming the back of the

pelvis The pelvis (plural pelves or pelvises) is the lower part of the trunk, between the abdomen and the thighs (sometimes also called pelvic region), together with its embedded skeleton (sometimes also called bony pelvis, or pelvic skeleton). The ...

) is not formed properly, or there is a mass in the

presacral space In human anatomy, the presacral space is inside the pelvis, behind the rectum and in front of the coccyx and sacrum. Normally it is empty, or it contains a pocket of fat. It is usually covered by sigmoid colon. Clinical significance The presa ...

in front of the sacrum, and there are malformations of the

anus The anus (Latin, 'ring' or 'circle') is an opening at the opposite end of an animal's digestive tract from the mouth. Its function is to control the expulsion of feces, the residual semi-solid waste that remains after food digestion, which, ...

rectum The rectum is the final straight portion of the large intestine in humans and some other mammals, and the gut in others. The adult human rectum is about long, and begins at the rectosigmoid junction (the end of the sigmoid colon) at the l ...

. 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. Its presence may significantly affect the surgical management of these patients. Other potential presacral masses include presacral

teratoma A teratoma is a tumor made up of several different types of tissue, such as hair, muscle, teeth, or bone. Teratomata typically form in the ovary, testicle, or coccyx. Symptoms Symptoms may be minimal if the tumor is small. A testicular ter ...

and enteric cyst. Presacral

usually is considered to be a variant of

sacrococcygeal teratoma Sacrococcygeal teratoma (SCT) is a type of tumor known as a teratoma that develops at the base of the coccyx (tailbone) and is thought to be primarily derived from remnants of the primitive streak. Sacrococcygeal teratomas are benign 75% of the t ...

. However, the presacral teratoma that is characteristic of the Currarino syndrome may be a distinct kind.

Genetics

The disorder is an

autosomal An autosome is any chromosome that is not a sex chromosome. The members of an autosome pair in a diploid cell have the same morphology, unlike those in allosomal (sex chromosome) pairs, which may have different structures. The DNA in autosom ...

dominant genetic trait caused by a mutation in the

HLXB9 Motor neuron and pancreas homeobox 1 (MNX1), also known as Homeobox HB9 (HLXB9), is a human protein encoded by the ''MNX1'' gene. Clinical significance Mutations in the ''MNX1'' gene are associated with Currarino syndrome Currarino syndrome ...

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. The study was published in the ''

American Journal of Human Genetics The ''American Journal of Human Genetics'' is a monthly peer-reviewed scientific journal in the field of human genetics. It was established in 1948 by the American Society of Human Genetics and covers all aspects of heredity in humans, includin ...

''.

Diagnosis

Diagnosis of Currarino syndrome is usually clinical, detecting all three elements of the triad. However, genetic testing is often used as the confirmation of diagnosis and genetic analysis of patient's family members.

Treatment

Surgery of an anterior

myelomeningocele Spina bifida (Latin for 'split spine'; SB) is a birth defect in which there is incomplete closing of the spine and the membranes around the spinal cord during early development in pregnancy. There are three main types: spina bifida occulta, men ...

is only indicated in the rare case in which the space-occupying aspect is expected to cause constipation or problems during pregnancy or delivery. Fistulas between the spinal canal and colon have to be operated on directly. Early diagnosis and multidisciplinary assessment is recommended to plan adequate treatment. By accurate evaluation, the correct surgical management, including neurosurgery, can be performed in a single-stage approach. The management of Currarino syndrome is similar to the usual management of anorectal malformation (ARM) regarding the surgical approach and probably the prognosis, which mainly depends on degree of associated sacral dysplasia. Neurosurgeons are involved in the surgical treatment of anterior

meningocele Spina bifida (Latin for 'split spine'; SB) is a birth defect in which there is incomplete closing of the spine and the membranes around the spinal cord during early development in pregnancy. There are three main types: spina bifida occulta, men ...

s, which are often associated with this condition. The accepted surgical treatment is an anterior or posterior or a staged anterior-posterior resection of the presacral mass and obliteration of the anterior meningocele.

Posterior approach

A posterior procedure via lumbar and sacral partial laminectomy-laminoplasty and transdural ligation of the neck of the meningocele is used for anterior sacral meningoceles; alternatively, tumor excision is used for other types of presacral lesions. Endoscopic or endoscope-assisted surgery via a posterior sacral route can be feasible for treatment of some patients with anterior sacral meningocele. Anterior meningocele pouch associated with Currarino syndrome will regresses over time following transdural ligation of its neck.

References

currarino_syndrome_treatment [Operative Neurosurgery]

External links