Currarino syndrome

Currarino syndrome is a rare congenital disorder characterized by a triad of anomalies including a sacral defect, anorectal malformation, and a presacral mass. It is named after Guido Currarino, an Italian-American radiologist who first described the syndrome in 1981. The syndrome is caused by mutations in the HLXB9 gene and is inherited in an autosomal dominant manner.

Signs and Symptoms

The clinical presentation of Currarino syndrome can vary widely, even among members of the same family. The classic triad of symptoms includes:

• Sacral defect: This is usually a partial agenesis (absence) of the sacrum, the large, triangular bone at the base of the spine. The defect can often be seen on an X-ray.
• Anorectal malformation: This can range from a minor anal stenosis (narrowing) to a complete absence of the rectum and anus. These malformations can lead to severe constipation and fecal incontinence.
• Presacral mass: This can be a benign growth such as a teratoma or an anterior meningocele, or a malignant tumor such as a chordoma.

Other symptoms can include urinary tract anomalies, gynecological abnormalities in females, and spinal abnormalities.

Diagnosis

The diagnosis of Currarino syndrome is based on the clinical features and imaging studies, such as X-rays, ultrasound, CT scan, or MRI. Genetic testing can confirm the diagnosis by identifying a mutation in the HLXB9 gene.

Treatment

The treatment of Currarino syndrome depends on the symptoms and their severity. Surgical intervention may be required to correct anorectal malformations and to remove presacral masses. Long-term management may include treatment for constipation and urinary incontinence.

Prognosis

The prognosis for individuals with Currarino syndrome varies depending on the severity of the symptoms and the presence of any associated conditions. With appropriate treatment, most individuals with Currarino syndrome can lead a normal life.

See Also

• Sacral agenesis
• Anorectal malformations
• Teratoma
• Meningocele
• Chordoma

References

Currarino syndrome Resources
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