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.

Lumbarisation of the first sacral vertebra a rare form of lumbosacral transitional vertebra / Lumbarización de la primera vertebra sacra: rara forma de una vertebra de transición lumbosacral

In the lumbosacral region, anatomical variations occur with changes in the number of sacral vertebra either by deletion of first sacral vertebra or by the union of fifth lumbar or first coccygeal vertebra with sacrum. Lumbasacral transitional vertebrae (LSTV) is the most common congenital anomalies of the lumbosacral region. It most commonly involves the fifth lumbar vertebra showing signs of fusion to the sacrum known as sacralisation or the first sacral vertebra shows signs of transition to a lumbar configuration commonly known as lumbarisation. Complete transition can result in numerical abnormalities of the lumbar and sacral vertebral segments. Lumbarisation of first sacral vertebra is seen with a very low incidence of 2%. Knowledge of presence of such vertebral variation will be helpful for the clinicians to diagnose and treat patients with low back pain. Although sacralisation of fifth lumbar vertebrae is most commonly seen when compared to lumbarisation of first sacral vertebrae, we report here a case of lumbarisation of first sacral vertebrae for its rarity among the LSTV and clinical implications.

En la región lumbosacra, las variaciones anatómicas se basan en cambios en el número de las vértebras sacras, ya sea por ausencia de la primera vértebra sacra o por unión de la quinta lumbar o primera vértebra caudal con el sacro. Las vértebras de transición lumbasacra (VTLS) son las anomalías congénitas más frecuentes de la región lumbosacra. La VTLS más común se produce a nivel de la quinta vértebra lumbar, con signos de fusión al sacro, proceso conocido como sacralización; mientras que la primera vértebra sacra también puede mostrar signos de transición a una configuración lumbar. A esto último se lo denomina lumbarización. La transición completa puede provocar anomalías numéricas a nivel de los segmentos vertebrales lumbares y sacros. La lumbarización de la primera vértebra sacra se observa con una incidencia muy baja, de solo 2%. El conocimiento de la presencia de dicha variación vertebral será de utilidad para los médicos al momento de diagnosticar y tratar a los pacientes con dolor en la parte baja de la espalda. Aunque la sacralización de la quinta vértebra lumbar se produce más frecuentemente en comparación con la lumbarización de la primera vértebra sacra, se presenta aquí un caso de lumbarización de la primera vértebra sacra, rara entre las VTLS, y con implicaciones clínicas.

Classification and analysis of fifth pair of sacral foramina in indian dry sacra / Clasificación y análisis del quinto par de forámenes en huesos sacros secos de indios

A sacrum with five pairs of foramina is an anatomical variant resulting from sacralisation of lumbar vertebra at cranial end or sacralisation of coccyx vertebra at caudal end. An unusual gross variation nurtures interest of anatomists and causes concern for clinicians when it mimics pathology. A sacrum with fifth anomalous pair of sacral foramina has been observed which prompted the author to examine the available sacra in the osteology lab of Department of Anatomy KG Medical University Lucknow, UP, India. Of the total sixty six observed sacra, those with five pairs of sacral foramina due to sacralisation of lumbar vertebra were found in eleven cases (16.6%) while those due to sacralisation of coccygeal vertebra were observed in nine cases (13.6%). These sacralisations were classified in five categories to systematise the anatomical study, causes and clinical complications. Sacralisation of lumbar vertebra may compress the fifth sacral nerve causing sciatica and back pain. It may also cause herniation of disc above sacralisation. Sacralisation of coccygeal vertebra may influence the caudal block anaesthesia in surgical procedures and also results in prolonged second stage of labor and perineal tears.

Un sacro con cinco pares de forámenes es una variante anatómica que resulta de la sacralización de la vértebra lumbar al extremo craneal o sacralización de la vértebra coxis al extremo caudal. Esta variación inusual es de interés para los anatomistas como también motivo de preocupación para los médicos al asemejar una patología. Un sacro con un quinto par anómalo de forámenes fue observado, por lo que se examinaron otros sacros del laboratorio de osteología del Departamento de Anatomía Médica de la Universidad de Lucknow, India. De un total de 66 sacros estudiados, en 11 casos (16,6%) se observaron cinco pares de forámenes sacros, debido a la sacralización de la vértebra lumbar; mientras que en 9 casos (13,6%), se observó la sacralización de la vértebra caudal. Estos fueron clasificados en cinco categorías para sistematizar el estudio anatómico, sus causas y complicaciones clínicas. La sacralización de la vértebra lumbar puede comprimir el quinto nervio, causando ciática sacra y dolor de espalda. También puede causar una hernia discal superior a la sacralización. La sacralización de la vértebra caudal, puede influir en la anestesia de bloqueo caudal en procedimientos quirúrgicos y también dar lugar a una prolongada etapa del trabajo de parto y desgarros perineales.

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.

Imperfuração anal associada à agenesia parcial do sacro e lipoma pré-sacral: síndrome de currarino / Imperforate anus associated with partial sacral agenesis and presacral lipoma: currarino syndrome

OBJETIVO: Relatar o caso de uma criança com síndrome de Currarino diagnosticada após avaliação por episódios recorrentes de infecção urinária. DESCRIÇÃO DE CASO: Menina branca de dois anos, única filha de pais hígidos e sem história familiar de defeitos congênitos. A criança nasceu com imperfuração anal e com fístula retovestibular diagnosticadas no primeiro dia de vida. Por volta dos sete meses, começou a apresentar episódios recorrentes de infecção urinária, estabelecendo-se o diagnóstico de bexiga neurogênica. Na mesma ocasião, foi constatada a presença de agenesia parcial do sacro. A avaliação pela tomografia computadorizada e ressonância nuclear magnética de coluna identificou presença de fístula coincidente com a fosseta da transição lombo-sacral, observada ao exame físico; amputação da porção inferior da medula, com diminuição do número de raízes nervosas da cauda equina e massa pré-sacral de aspecto lipomatoso. Esta foi confirmada durante a cirurgia de correção do ânus imperfurado. A criança não apresentava outras dismorfias e a avaliação radiológica dos pais não identificou anormalidades sacrais. COMENTÁRIOS: A síndrome de Currarino é uma doença genética autossômica, dominante e rara caracterizada pela tríade formada por atresia anal, agenesia parcial do sacro e tumoração pré-sacral. Inclui teratomas, meningoceles, cistos entéricos e lipomas, como observado em nossa paciente. Crianças apresentando anormalidades anorretais deveriam ser sempre cuidadosamente avaliadas quanto à presença da síndrome de Currarino. A agenesia parcial do sacro é um forte indicativo da doença.

OBJECTIVE: To report a patient with Currarino syndrome diagnosed after evaluation for recurrent urinary infections. CASE DESCRIPTION: This is a Caucasian two-year-old girl, the only daughter of healthy unrelated parents with no family history of congenital defects. The patient was born with imperforate anus and recto-vestibular fistula diagnosed in the first day after birth. At seven months of age, she started to present episodes of recurrent urinary infections and received a diagnosis of neurogenic bladder. At the same time, partial sacral agenesis was noted. Magnetic resonance imaging and computed tomography scan of the spine identified the presence of a fistula coincident with the lombo-sacral dimple described at clinical examination, amputation of the lower portion of the spinal cord with reduced number of nervous roots of the caudus equinus and lipomatous presacral mass. The patient did not present other dysmorphia. Parental radiologic evaluation did not identify sacral abnormalities. COMMENTS: Currarino syndrome is a rare autosomal dominant genetic disease characterized by the triad composed of anal atresia, partial sacral agenesis and presacral tumor. It includes, among others, teratomas, meningoceles, enteric cysts and lipomas, as observed in our patient. Children presenting anorectal abnormalities should be evaluated regarding the presence of Currarino syndrome. The partial sacral agenesis is a major sign of this disease.

Síndrome de regresión caudal: caso clínico / Caudal regression syndrome: clinical case and update

Caudal regression is a rare congenital malformation which includes a wide spectrum of musculoskeletal abnormalities involving the lumbosacral spine, pelvis and lover limbs. It can be associated to visceral defects (gastrointestinal, genitourinary, cardiac or neurological) in various degrees. The etiology is not yet clear, but maternal diabetes, genetic predisposition, and vascular hypoperfusion are suspected. Objective: Describe a case of exceptional extension, including first year evolution. Clinical Case: A male newborn, term, was diagnosed before birth. Mother is a Type 2 diabetic. Physical exam and images confirm the diagnosis, show presence of 7 cervical vertebrae, 8 thoracic, agenesia of distal dorsal and lumbosacral spine. No spinal disraphia, medular conus at D2. Conclusion: The reported case shows that early diagnosis and multidisciplinary evaluation of the patient are essential elements to decrease complications and improve prognosis.

Antecedentes: El síndrome de regresión caudal es una malformación congénita poco frecuente, caracterizada por un amplio espectro de anormalidades musculoesqueléticas que comprometen columna lumbosacra, pelvis y extremidades inferiores. Se puede asociar a diversos defectos viscerales (gastrointestinales, genitourinarios, cardíacos y neurológicos) presentes en distintos grados según la severidad del caso. Su etiología aún no se encuentra bien dilucidada, pero se sospecha que la diabetes materna, la predisposición genética y la hipoperfusión vascular serían algunos de los factores involucrados en su patogénesis. Objetivo: Dar a conocer un caso de regresión caudal de extensión excepcional y describir su evolución durante el primer año de vida. Caso clínico: Se presenta el caso de un recién nacido de término, sexo masculino, hijo de madre diabética tipo 2, con diagnóstico antenatal de síndrome de regresión caudal. El examen físico y las imágenes confirman el diagnóstico y muestran la presencia de siete cuerpos vertebrales cervicales y sólo ocho torácicos, con agenesia de columna dorsal distal y lumbosacra, sin disrrafia espinal y cono medular en nivel de D2. Conclusión: El caso reportado demuestra que tanto el diagnóstico precoz como la evaluación multidisciplinaria del paciente, son pilares esenciales para disminuir el riesgo de complicaciones asociadas y mejorar su pronóstico.

[Lateral sacral meningocele presentation as a gluteal mass]

Lateral meningocele is a rare spinal dysraphism known to occur in patients with neurofibromatosis or Marfan's syndrome. Although this commonly occurs in the thoracic or sometimes in the cervical region, localization at the sacral spine is very infrequent. In this paper we present our case with isolated lateral sacral meningocele with spinal communication through iliac bone. In addition, a review of literature associated with this entity is presented

Síndrome de regresión caudal: caso clínico extremo y revisión de la literatura / Caudal regression syndrome: a severe case report and review of literature

Caudal regression syndrome (SRC) is a disruption of development of distal spinal segments, which affects in most cases, the development of lumbar vertebrae and sacrum. The exact etiology is still unknown; however, it has been related to pre and maternal diabetes, genetics factors and diminished vascular supply. At this time, we present an extreme case of SRC; 4 months old boy, his mother is diabetic, poorly controled, who presents SRC with spinal cord to T2.

El síndrome de regresión caudal (SRC), es una alteración del desarrollo de los segmentos espinales distales, que afecta en la mayoría de los casos el desarrollo del sacro y vértebras lumbares. La etiología exacta aun no esta precisada, sin embargo, se ha relacionado con la diabetes previa y gestacional, factores genéticos y la hipoperfusión vascular. En esta ocasión, se presenta el caso de regresión caudal extrema de un paciente masculino, de 4 meses de edad a la fecha, hijo de madre diabética, mal controlada en embarazo, que presenta SRC con presencia de médula espinal hasta T2.

Currarino triad: case report and surgical management of anterior meningocele

The Currarino triad is combination of a presacral mass, congenital sacral bony abnormalities and anorectal malformation. An 18 years old women with constipation, plain X rays of sacrum shows sacrococcygeal deformity in the shape of scimitar, magnetic resonance imaging shows cystic mass of the presacral region which appeared to be continues with the dural sac, and on lateral views appeared to be continues with dural sac as anterior meningocele. Surgical management was done as thecoperitoneal shunt by direct approach

Comparison of sacral ratio in normal children and children with urinary and/or faecal complaints

Sacral ratio [SR] measurements in children with urinary and faecal complaints is less than that in normal children. We performed the current study on 401 normal and 193 children with urinary and/or faecal complaints from April 2002 to April 2003. None of the children in either group had a history of a known neurologic disease, myelodysplasia, cloacal exstrophy, Hirschprung's disease, ureteropelvic junction obstruction, ureterovesical junction obstruction or anorectal malformation. Due to ethical and health aspects, we couldn't request radiography in completely normal children to determine SR. The normal value for SR in antero-posterior view [APSR] ranged from 0.36-1.33 with an average of 0.71. The mean APSR in patients with urinary and/or faecal signs and symptoms [case group] was 0.554. The differences of SR values between the two groups were statistically significant [P<0.05]. The curve of mean APSR and age in normal group shows no obvious steepness but the curve in case group has an obvious slope with increasing age to adolescence. The SR is considered as a reliable tool to evaluate sacral development in patients with urinary and/or faecal complaints. It has a wide range of values and should be noted abnormal when it is less than 0.4. Age has a significant influence on SR values in children with urinary and/or faecal complaints

Currarino syndrome: report of two cases and review of the literature.

In the present paper the authors examine two cases of Currarino syndrome and review the existing literature on the disease. Both cases presented with chronic constipation. The first concerns a two year old male born with anorectal stenosis and diagnosed with Currarino syndrome when scimitar sacrum and anterior meningocele were finally detected. The second concerns a 25 year old female who suffered from chronic constipation but was not diagnosed until thorough examination revealed ectopic anus with Hirschsprung disease, scimitar sacrum and anterior meningocele. Because these patients were not diagnosed with Currarino syndrome when first seen, the authors reviewed its prevalence, embryogenesis, clinical manifestations, diagnosis and treatment. The authors' research supports the significance of prompt diagnosis in effective treatment and reduction of morbidity.

Syringomyelia in caudal dysplasia sequence.

Caudal dysplasia sequence (CDS) comprises developmental anomalies of the caudal vertebrae, neural tube, urogenital and digestive organs, and hind limbs, the precursors of all of which are derived from the caudal eminence. Although the syndrome is well recognized, the etiology and pathogenetic mechanisms are poorly understood. We report syringomyelia in association with the CDS, which has not been described previously and recommends inclusion of this entity in the spectrum of abnormalities encountered in this syndrome.

Usefulness of radiology and MRI in caudal regression syndrome

We report three patients with sacral and coccygeal agenesis based on observations of painful haematuria, urinary tract infection, and urine incontinence. All patients were examined by conventional radiology [urography and micturating urethrography] and imaging such as ultrasound and MRI. Neuropathic urinary bladder and pronounced reflux to the kidneys were observed. MRI of spine revealed conus medullaris located high [Th 11 and Th 12] and different from the expectations with respect to the patients' age. Neither tether cord nor intrathecal tumours were observed in our patients. In one patient, deformed and bulky cauda equina was described and in another the cauda equina was small and atrophic. In all patients, absence of a part of sacrum and coccyx and nerve roots innervating urinary bladder and sphincters were observed. MRI revealed good anatomical and pathological check up of kidneys and urinary tracts in the children suffering from chronic urosepsis

Exámen médico laboral del raquis lumbosacro / Lumbar spine: laboral X-Ray examination

El presente trabajo tiene por objeto repasar conceptos relacionados con el exámen radiológico del raquis lumbosacro desde el punto de vista laboral y a la luz de la legislación vigente en la actualidad (Ley de riesgo de trabajo N§ 24557, capítulo III artículo 6). También hace hincapié en la responsabilidad que le cabe al especialista en diagnóstico por imágenes en todo lo referente a la detección de patología osteoarticular presente en el momento del exámen y/o condiciones anatómicas que favorezcan la aparición de patología en un futuro. Se hace además un repaso de las mediciones más frecuentes a tener en cuenta a la hora generar el informe radiológico como así también la necesidad de recurrir, cuando las circunstancias lo requieran, a exámenes de mayor complejidad. Se efectúa un repaso de la embriología de la columna como generadora de patología con implicancia laboral y de la anatomía y fisiología del raquis

Meningocele oculto en el sacro / Occul intrasacral meningocele

Los defectos disráficos del sistema nervioso central, la espina bífida, el meningocele y el mielomeningocele, habitualmente se manifiestan y son diagnosticados al nacer o en las primeras etapas de la vida, siendo común observar estigmas cutáneos que nos hacen sospechar la espina bífida oculta y otras lesiones intraespinales congénitas. Se reportaron tres casos de meningocele oculto en el sacro, que se manifestaron en la edad adulta, entre los 40 y 52 años con un cuadro clínico de lumbalgia, ciática y vejiga neurogénica, como característica común dilatación del conducto lumbosacro y erosión acentuada de los cuerpos vertebrales, principalmente al nivel del sacro. Fácilmente detectados en las radiografías simples. Se destaca la importancia de la tomografía axial computada TAC, resonancia magnética, mielografía y la mielografía TAC en el proceso de diagnóstico. Se señalan las bases de su tratamiento quirúrgico, que en estos tres pacientes, permitió la solución de su problema

Lumbar lordosis and sacral Inclination: effects of age and sex

Low back pain is a problem seen currently in the middle and old age groups. Measurements of the lumbar lordosis are useful in low back pain investigation. It is not obvious of the lumbo-sacral curvature of the spine is changed with aging and if sex has a role in its determination. Lateral radiographic studies were done on the lumbo-sacral spines of 180 patients [101 males and 79 females] aged 10-79 years selected from patients Undergoing diagnostic radiology for abdominal and genito-urinary diseases. Measurements of [1] lumbar lordosis, [2] sacral curvature and [3] lumbosacral angle were made directly from the lateral radiographs of the lumbo sacral spine and the average values were taken. Analysis of the data obtained showed that all the three parameters varied steadily with age. Females had greater angles more than males. Sacral inclination appeared to be more important determinant of lumbar lordosis. All the three parameters showed a tendency to decrease after the 5th decade, except the lumbo-sacral angle which showed a steady increase up to the 8th decade in females. The clinical significance of these findings may be valuable in [1] The age and sex-related differences in the lumbar lordosis should be considered in the design of lumbar supports, and [2] consideration of a suitable degree of lordosis infusion of the Imbar spine