What is Currarino Syndrome?

The currarino syndrome is symptomatic triad of anorectal and sacral anomalies with presacral masses. The syndrome is a hereditary disease that is often associated with a mutation in the MNX1 gene and is caused by an incorrect separation of the ento- and neuroectoderm. Causal therapies do not exist.

What is Currarino Syndrome?

The medical term triad describes a combination of three symptoms. The Curranino syndrome is such a triad of symptoms and is associated with anorectal sacral malformation and a presacral mass. The symptom complex is one of the congenital malformation syndromes and is also called the Curranino triad because of its triadic basis.

Another synonym is the term ASF association, which refers to the symptomatically affected structures anoractal, sacral and presacral. At the beginning of the 20th century, the American surgeon RLJ Kennedy first described the triad of symptoms.

The triad of the clinical picture was taken up again at the end of the same century by the pediatric radiologist G. Currarino. He gave the syndrome its name. The prevalence of the disease is between one and nine cases per 100,000 people. The most common age of onset is early childhood.

Causes

The cause of Currarino syndrome is genetic. In 70 percent of the cases, the disease does not occur sporadically, but is observed with familial accumulation. The inheritance is done autosomal dominant in these cases. Etiologically, the syndrome is based on a faulty separation of endoderm and neuroectoderm, which occurs during the embryonic phase. The disease is assessed as heterogeneous.

In many cases, mutations are responsible for the faulty separation of the embryonic structures. These mutations are often those in the MNX1 gene at gene locus 7q36.3. This gene codes for a nuclear protein called HB9. This protein is essential for pancreas activity and various brain structures. With the mutation, the protein is defective and can no longer do its job.

Symptoms, ailments & signs

Currarino syndrome is characterized by a triadic complex of clinical symptoms and characteristics. The anorectal abnormality is one of the most important clinical criteria. In addition to a stenosis, an anomaly in this area can be, for example, an atresia or a fistula. The sacrum on the back of those affected is also affected by bony sacral defects.

There are masses in an anterior position to the sacrum. These masses can be meningocele. Also teratomas are conceivable symptoms. In individual cases, enteral cysts were also identified as masses. In most cases, there is also an anomaly of the coccyx. Often individual areas of the bone are not created at all. This phenomenon is referred to as a partial agenesis, to which the respective space occupation lies ventrally.

In most cases, the first vertebra of the sacrum is not affected by the mass. In almost all cases, the symptoms of the disease manifest themselves immediately after birth. In addition to the symptoms mentioned, around 50 percent of those affected have a malformation of the spinal cord that is not recognizable at first glance and occurs as a result of impaired neural ear formation. There may also be chronic constipation.

Diagnosis & course

The diagnosis of Currarino’s syndrome is usually made in early infancy. In most cases, sonography is used as the primary diagnostic tool. Molecular genetic analyzes can under certain circumstances prove a mutation in the MNX1 gene in diagnostics. Since this mutation is by no means present in all patients, it is not a mandatory diagnostic criterion.

However, if it can be proven, the diagnosis is considered confirmed. The sonographic findings usually give the doctor the first suspicion of the syndrome. This suspicion is confirmed with x-rays or imaging such as magnetic resonance imaging. The X-ray image of patients of the Currarino triad shows a sickle-like residual sacrum, which is known as the “scimitar sign”.

Magnetic resonance imaging shows half of those affected by a well-hidden spinal dysraphy. If such malformations of the spinal cord are present, a further examination of the tethered cord is indicated. Depending on the severity of the syndrome, some patients may be asymptomatic into adulthood and are therefore diagnosed late. The severity of the malformations determines the prognosis in each individual case.

When should you go to the doctor?

As a rule, with Currarino syndrome, a doctor must be consulted if the person concerned suffers from the formation of fistulas. Defects can also occur in the bones, although these are not always congenital. If Currarino’s syndrome is diagnosed, the patient will, in most cases, have to have regular checkups throughout their life. Anomalies in the coccyx can also indicate this defect and should be investigated in early childhood.

A medical examination and treatment is necessary, especially in the event of pain or restrictions in everyday life. Furthermore, many people suffer from constipation, so that a medical examination must also be carried out. Usually the syndrome can be diagnosed by a pediatrician.

Treatment is then carried out through various surgical interventions. Furthermore, the person concerned must also be examined regularly. Should the patient also suffer from psychological complaints due to the anomalies and malformations, psychological treatment should also be initiated.

Treatment & Therapy

There is no causal therapy for patients with Currarino’s syndrome. Gene therapies are not yet applicable. Since they are currently the subject of research, a causal treatment in the future is under certain circumstances conceivable. Until a causal therapy can be applied, the symptom triad is treated exclusively symptomatically. This symptomatic therapy primarily involves correcting the malformations.

The corrective measures usually correspond to surgical interventions. Surgical treatment of anal atresia can, for example, take place immediately after birth. This is especially indicated if these symptoms are associated with severe constipation. Surgical intervention must also take place with regard to the masses. This intervention is a surgical resection.

The indicated time for such a treatment measure depends on the size and type of the mass in the individual case. The sacral bony defects of the sacrum cannot be corrected or only partially corrected in some cases. In the case of agnesia of the coccyx, symptomatic treatment of the syndrome can also include reconstructive surgical interventions. For all symptoms of Currarino’s syndrome, the urgency of interventions basically depends on the severity of the triad and thus on the individual case.

Outlook & forecast

Since Currarino syndrome is a genetic disease, it cannot be treated causally or causally. For this reason, only the individual symptoms can be restricted, whereby a complete cure cannot be achieved.

Many ailments can be alleviated with the help of surgical interventions. They take place immediately after birth and use them to treat analtresia. There are no particular complications and this complaint is usually cured.

This also relieves possible constipation or other discomfort in the abdomen and stomach. The complaints and malformations on the sacrum cannot be completely alleviated, however. Here, too, surgical interventions are necessary, although the corrections can only be made partially. The further course depends very much on the exact severity of the symptoms.

However, if the symptoms of Currarino’s syndrome are not treated, there will be severe restrictions in everyday life and the patient will also have restricted mobility. In some cases, Currarino’s syndrome can also negatively affect the child’s mental development, so the child and parents also need psychological treatment.

Prevention

So far, the factors that favor the disturbed separation of ento- and neuroectoderm have not been conclusively clarified. For this reason, there are currently no specific measures available to prevent Currarino syndrome.

Aftercare

Since Currarino’s syndrome is a hereditary disease, in most cases the person affected has very few or even no special options and measures for direct follow-up care. The disease cannot be treated completely in this way either. If the patient wishes to have children, genetic counseling can also be carried out in order to prevent the recurrence of Currarino’s syndrome.

An early detection of the disease always has a very positive effect on the further course. Therefore, a doctor should be contacted at the first symptoms and signs of the disease. This disease is primarily treated by treating the various malformations.

Surgical interventions are usually necessary, whereby the person affected should rest after such an operation and take care of his body. Since not all symptoms can be corrected, some patients depend on the help and care of their own family or friends. Intensive discussions with those affected also have a positive effect on the course of Currarino’s syndrome and can also prevent psychological upsets or depression.

You can do that yourself

Currarino syndrome results from a genetic defect that is inheritable. There are neither conventional medical nor alternative healing methods that are aimed at treating the cause of the syndrome. Only the symptoms can be treated. As a rule, this requires surgical interventions, which the patient can only support indirectly.

People in whose families Currarino syndrome has already occurred can seek genetic counseling before starting a family.

Currarino’s syndrome is usually diagnosed in early childhood. Many affected children have already had more than a dozen operations before the age of ten. It’s not just extremely physically demanding. Often the mental development of the child also suffers, although there is no mental retardation.

Due to the numerous medical interventions alone, the children cannot develop in an age-appropriate manner. Parents can counteract this fact with targeted early support. In addition, a school should be found at an early stage that enables the child to attend classes despite constant illness-related absences.

From a certain age, the affected children suffer not only physically but also emotionally. This is especially true when symptoms such as incontinence occur that make it more difficult to deal with people of the same age. Parents should consult a child psychologist at an early stage and seek support themselves, for example through membership in a self-help group.

Currarino Syndrome