Síndrome de Currarino como enfermedad infrecuente dentro del diagnóstico diferencial de la patología anexial oncológica / Currarino Syndrome as a Rare Disease in the Differential Diagnosis of Oncological Adnexal Pathology

El Síndrome de Currarino se define como la presencia de una tríada característica que asocia: estenosis anal, malformación sacrococcígea y masa presacra. La escasa sintomatología, caracterizada además por su inespecificidad, provoca que en muchas ocasiones el diagnóstico se realice durante la edad adulta y pueda confundirse con patologías ginecológicas, de origen predominantemente oncológico. El diagnóstico mediante pruebas de imagen, se realiza fundamentalmente a través de la resonancia magnética nuclear. La extirpación quirúrgica de la masa presacra unida al tratamiento sintomático del resto de la triada son la base terapéutica de esta infrecuente patología. Presentamos el caso de una paciente de 20 años de edad con estreñimiento crónico y dolor abdominal inespecífico. Es enviada al Servicio de Ginecología por la presencia de una masa de gran tamaño que se supone de origen anexial. Tras el estudio exhaustivo de dicha paciente, se llegó a la conclusión diagnóstica de que dicha tumoración corresponde a un meningocele, asociado a agenesia parcial sacra y estenosis anal; tríada que define al Síndrome de Currarino.

Currarino Syndrome is defined as the presence of a characteristic triad that associates anal stricture, sacrococcygeal malformation and presacral mass defines this syndrome. The scarce symptomology, also characterized by nonspecific symptoms, conditions that in many cases the diagnosis is made in adulthood and can be confused with gynecological pathologies. The diagnosis is made by imaging tests, fundamentally the NMR (nuclear magnetic resonance). The main treatment is the surgical excision of the mass presacra together with the symptomatic treatment of the rest of symptoms. We present the case of a 20-year-old patient with chronic constipation and abdominal pain that is referred to Gynecology due to the presence of a mass that is supposed to be adnexal. After the study of this patient is diagnosed a meningocele, associated with partial sacral agenesis and anal stricture, triad that defines Currarino Syndrome.

Caudal regression syndrome.

A case of caudal regression syndrome was reported in 20 wks foetus during routine foetal autopsy at GMCH, Chandigarh. The external examination showed 2 vessels in umbilicus. There was anteroposterior lengthening of skull. The anal opening was absent. The lower limbs were fused in thigh region with a small appendages attached to this on left side which also terminated in foot. The right foot had 5 toes and left foot had 3 toes. No external genitalia were seen. On internal examination, the gut was opening in a dilated cloaca like blind chamber. Kidneys were absent on both sides.X ray examination revealed small sacrum, femur, tibia in both the legs. Fibula was absent bilaterally. Caudal dysgenesis syndrome and caudal regression syndrome are broad terms that refer to a constellation of caudal congenital anomalies affecting caudal spine and spinal cord, hind gut, urogenital system, and the lower limbs. The etiology, incidence, causative factors of this case will be discussed in light of available literature

Síndrome de Currarino y enfermedad de Hirschsprung: una asociación poco frecuente / Currarino's syndrome and Hirschsprung's disease: a rare combination

The Currarino syndrome is an autosomal dominant partial sacral agenesis involving sacral vertebrae S2 to S5, with presevation of the S1 vertebrae. In the most severe form of the syndrome, the sacral agenesis is associated to presacral mass, anorrectal and urogenital malformations. Hirschsprung's disease is a congenital malformation of the hindgut determined by the absence if parasympathetic intrinsic ganglion cells in the submucosal and myenteric plexuses. We present a case of a 3 years old male child affected from Currarino syndrome associated to Hirschprung's disease.

El Síndrome de Currarino consiste en agenesia sacra parcial de herencia genética autosómica dominante parcial, que afecta las vértebras sacras S2 a S5, preservándose S1. En la forma más severa del síndrome, a la agenesia sacra se asocian masa presacra y malformaciones anorrectales y urogenitales. La enfermedad de Hirschsprung es una malformación congénita del intestino grueso debida a la ausencia de células ganglionares intrínsecas parasimpáticas de la submucosa y de los plexos mientéricos. Presentamos el caso de un niño de 3 años con Síndrome de Currarino asociado a enfermedad de Hirschsprung.

Currarino Triad

The authors report a case of Currarino triad which had a congenital anorectal stenosis associated with a sacral defect and a presacral mass. A 1-year-old female presented with constipation since birth. Neurological deficits were not found on admission. She had had a diverting colostomy due to anorectal stenosis at another hospital before admission. Lumbar X-ray films showed bony defect caudal to the third sacral vertebra. Magnetic resonance image demonstrated a round cystic pelvic mass which was connected with a dural sac via anterior sacral defect. Posterior approach with Intradural removal of the presacral cystic mass was performed and followed by anoplasty by a pediatric surgeon. The cystic mass was verified histologically as mature teratoma with cystic change. Postoperatively, the urinary function and bowel movement remained intact. Currarino triad should be suspected and evaluated physically and radiographically in a case of congenital anorectal stenosis. Prompt recognition and close cooperation between pediatric surgeons and neurosurgeons is advisable to ensure adequate surgical treatment.

Currarino Triad

The authors report a case of Currarino triad which had a congenital anorectal stenosis associated with a sacral defect and a presacral mass. A 1-year-old female presented with constipation since birth. Neurological deficits were not found on admission. She had had a diverting colostomy due to anorectal stenosis at another hospital before admission. Lumbar X-ray films showed bony defect caudal to the third sacral vertebra. Magnetic resonance image demonstrated a round cystic pelvic mass which was connected with a dural sac via anterior sacral defect. Posterior approach with Intradural removal of the presacral cystic mass was performed and followed by anoplasty by a pediatric surgeon. The cystic mass was verified histologically as mature teratoma with cystic change. Postoperatively, the urinary function and bowel movement remained intact. Currarino triad should be suspected and evaluated physically and radiographically in a case of congenital anorectal stenosis. Prompt recognition and close cooperation between pediatric surgeons and neurosurgeons is advisable to ensure adequate surgical treatment.

Presacral Mass in Currarino Triad: Case Report

The Currarino triad is a unique complex of congenital caudal anormalies including anorectal malformation, sacral bony abnormality, and presacral mass. Histologically the presacral mass has been identified as a meningocele, teratoma, enteric duplication or a combination of this. A Case of female infant with this triad was presented and was successfully treated by surgery. The presacral mass was a lipomyelomeningocele. The clinical features, unique radiologic findings, and importance of a correct diagnosis of currarino triad were reviewed.