Currarino syndrome
Currarino Syndrome
Currarino Syndrome (pronounced: kuh-rah-ree-noh sin-drohm) is a rare congenital disorder characterized by a triad of anomalies: a sacral defect, anorectal malformation, and a presacral mass. The syndrome was first described by Guido Currarino, an Italian-American radiologist, in 1981.
Etymology
The syndrome is named after Guido Currarino, who first described the condition in a medical journal in 1981. The term "syndrome" is derived from the Greek word "syndromē," which means "concurrence."
Symptoms
The symptoms of Currarino Syndrome can vary greatly from person to person. The most common symptoms include chronic constipation, urinary tract infections, and abnormalities in the sacral area of the spine. Some individuals may also have a tumor in the presacral area.
Diagnosis
Diagnosis of Currarino Syndrome is typically made through a combination of physical examination, medical history, and imaging studies such as X-rays, MRI, or ultrasound. Genetic testing may also be used to confirm the diagnosis, as the syndrome is known to be caused by mutations in the MNX1 gene.
Treatment
Treatment for Currarino Syndrome is typically focused on managing the symptoms and may include surgery to correct anorectal malformations or remove presacral tumors. Ongoing care may be needed to manage chronic constipation or urinary tract infections.
Prognosis
The prognosis for individuals with Currarino Syndrome can vary greatly depending on the severity of the symptoms and the presence of any associated conditions. With appropriate treatment and management, many individuals with the syndrome can lead normal lives.
See Also
References
- Currarino G, Coln D, Votteler T. Triad of anorectal, sacral, and presacral anomalies. AJR Am J Roentgenol. 1981;137(2):395-398.
- Lynch SA, Bond PM, Copp AJ, et al. A gene for autosomal dominant sacral agenesis maps to the holoprosencephaly region at 7q36. Nat Genet. 1995;11(1):93-95.
External links
- Medical encyclopedia article on Currarino syndrome
- Wikipedia's article - Currarino syndrome
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