Diagnóstico prenatal del síndrome de Currarino completo. Presentación de un caso / Prenatal diagnosis of complete Currarino syndrome. Case report

RESUMEN Fundamento: El síndrome de Currarino es una enfermedad poco frecuente, presenta varias malformaciones conformadas por una tríada: estenosis anal, malformación sacrococcígea y masa presacra; su diagnóstico se realiza con frecuencia en edad adulta. Objetivo: Reportar un caso que se diagnosticó con síndrome de Currarino en etapa fetal. Caso clínico: Se reportó un feto del sexo masculino de 22 semanas de gestación, con síndrome de Currarino que al realizarle la necropsia se constató la presencia de: defecto sacro coccígeo (ausencia total del sacro), masa o tumoración presacra (de aspecto quístico), ano imperforado y ausencia de pliegue interglúteo, estenosis del sigmoide y bolsa escrotal única, riñón único, pélvico y poliquístico, con salida de 2 uréteres. Conclusiones: El síndrome de Currarino se caracteriza por una tríada de presentaciones, en muchos casos se puede pasar por alto y existir subdiagnósticos, por lo que su detección precoz permite evitar complicaciones en la etapa adulta y mejorar la calidad de vida.

ABSTRACT Background: Currarino syndrome is a non-frequently disease, presenting several malformations consisting of a triad: anal stenosis, sacrococcygeal malformation and presacral mass; its diagnosis is habitually performed in adulthood. Objective: To report a case diagnosed with Currarino syndrome in the fetal stage. Case report: A 22-week gestation male fetus with Currarino syndrome, at necropsy he was found to have: sacrococcygeal defect (total absence of the sacrum), presacral mass or tumors (cystic appearance), non-perforated anus and absence of intergluteal fold, sigmoid stenosis and single scrotal pouch, single, pelvic and polycystic kidney, with exit of 2 ureters. Conclusions: Currarino syndrome is characterized by a triad of appearances, in many cases it can be overlooked and underdiagnosed, so early detection can prevent complications in adulthood and improve life quality.

Laparoscopic Resection of Retroperitoneal Presacral Schwannoma: A Case Report

Retroperitoneal presacral schwannomas are uncommon and are usually diagnosed accidentally. We present here the case of a 23-year-old woman diagnosed with an expansive pelvic lesion during a routine gynecological examination. The precise location of the tumor, as well as its relation to adjacent structures, was determined through magnetic resonance imaging (MRI). The patient underwent laparoscopic lesion resection and the diagnosis was confirmed by immunohistochemistry. An MRI performed 2 months after surgery confirmed complete lesion resection.

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.

Controversies in presacral tumors management / Controvérsias no tratamento de tumores pré-sacrais

ABSTRACT Presacral tumors are rare lesions of the retrorectal space that can present diagnostic and therapeutic difficulty because of their anatomic location and the different tissue types and etiology. Although the diagnosis and management of these tumors has evolved in recent years, several points still to be addressed in order to improve perioperative diagnosis and treatment. In the upcoming we will try to highlight some controversial points; the pre-operative biopsies, neoadjuvant therapy, the necessity of surgery and the role of minimally invasive surgeries of presacral tumors.

RESUMO Tumores pré-sacrais são lesões raras do espaço retrorretal que podem trazer dificuldades diagnósticas e terapêuticas por causa de sua localização anatômica e também pelos diferentes tipos de tecidos e etiologia. Embora nos últimos anos o diagnóstico e tratamento desses tumores tenham evoluído, diversos pontos ainda devem ser estudados com vistas à melhora do diagnóstico e tratamento no perioperatório. Mais adiante, tentaremos esclarecer alguns pontos controversos; biópsias pré-operatórias, terapia neoadjuvante, a necessidade de cirurgia e o papel das cirurgias minimamente invasivas para os tumores pré-sacrais.

Teratoma Sacrococcígeo: Reporte de Caso / Sacrococcygeal Teratoma: Case Report

El teratoma sacrococcígeo es el teratoma más común en los recién nacidos, con predominio en el sexo femenino. Se presenta el manejo de un neonato de 5 días de vida(AU)

Sacrococcygeal teratoma is the most common teratoma in newborn, predominantly in female sex. A case of a 5 day old newborn is presented(AU)

Secuencia de regresión caudal: caso clínico-radiológico / Caudal regression sequence: clinical-radiological case

El síndrome de regresión caudal es una malformación congénita poco frecuente que abarca un gran espectro de formas de presentación. Caracterizado por el compromiso musculoesquelético caudal, se puede asociar a defectos neurológicos, gastrointestinales, renales y genitourinarios. Aunque su etiología aún no se encuentra aclarada, se ha asociado a la presencia de diabetes materna y a mutaciones en el gen homeobox HBLX9. Su diagnóstico se basa en un buen estudio ecográfico prenatal, un examen físico detallado y estudio imagenológico posnatal con radiografía y/o resonancia magnética. El síndrome de regresión caudal requiere un manejo multidisciplinario en el cual el control metabólico de la diabetes gestacional constituye la mejor medida preventiva disponible en la actualidad. Se presenta el caso e imágenes de un recién nacido de término de sexo masculino, hijo de madre diabética pregestacional con mal control metabólico y diagnóstico ecográfico prenatal de malformación de columna lumbar, huesos iliacos y extremidades inferiores. Nace en buenas condiciones y se confirma el diagnóstico de síndrome de regresión caudal mediante estudio radiográfico y resonancia magnética compatibles.

Caudal regression syndrome is an uncommon congenital malformation that includes a wide spectrum of clinical presentations. Characterised by caudal musculoskeletal compromise, it can be associated to neurological, gastrointestinal, renal and genitourinary defects. Although the specific aetiology has not been clarified, it has been associated with the presence of maternal diabetes and mutations in homeobox gene HBLX9. Its diagnosis is based on a good prenatal ultrasound detection, detailed physical examination, and post-natal imaging study using radiography and magnetic resonance. Caudal regression syndrome requires multidisciplinary management, and it seems that good metabolic control of gestational diabetes constitutes the best preventive measure available. We present the clinical case and images of a male term newborn, born to a pregestational diabetic mother with poor metabolic control and a prenatal ultrasound diagnosis of lumbar spine, iliac bones and lower limbs malformation. Born in good conditions, the diagnosis was confirmed using X-rays and magnetic resonance.

Agenesia sacra asociada a disrrafismo espinal e hidrocefalia / Sacra agenesia associated to spinal dysraphism and hydrocephaly

Introducción: la agenesia sacra es una malformación congénita rara que forma parte del síndrome de regresión caudal. Se caracteriza por un grupo de anomalías en las cuales la columna caudal está ausente. Esta enfermedad es la malformación más frecuente en los hijos de madres diabéticas, además se ha relacionado con otros factores predisponentes, como deficiencias de ácido fólico, de vitaminas, uso de insulina en el embarazo, e incluso, la hipoxia. Entre un 30-40 por ciento de pacientes con agenesia sacra completa, pueden tener asociado un mielomeningocele, y el desplazamiento de las raíces nerviosas empeora los trastornos neurológicos. En estos casos, la hidrocefalia, muchas veces también asociada a malformación Chiari tipo II, está ya presente al nacer. Caso clínico: se presenta el caso de un neonato con agenesia sacra asociada a disrrafismo espinal e hidrocefalia. La intervención quirúrgica fue precoz, se le colocó derivación ventrículo peritoneal y se realizó la reparación del defecto del tubo neural. La evolución posoperatoria fue favorable, aunque persistieron los déficits neurológicos preoperatorios. Conclusiones: no se hallaron factores predisponentes en este paciente y el análisis del cariotipo fue normal. Las anomalías óseas de miembros inferiores fueron las más llamativas, así como la presencia de hidrocefalia asociada a malformación Chiari tipo II y mielomeningocele. El tratamiento a estos casos requiere de un enfoque multidisciplinar, y la reparación quirúrgica del mielomeningocele debe ser precoz para conseguir una evolución favorable. Las formas graves pueden ocasionar una muerte temprana neonatal, en cambio, los niños que sobreviven, generalmente presentan inteligencia normal

Introduction: sacra agenesia is a rare congenital malformation as part of the caudal regression syndrome. It is characterized by a group of anomalies in which the caudal cord is absent. This disease is the most common malformation found in children from diabetic mothers but it has also been related to other predisposing factors such as folic acid deficiencies, vitamin deficiencies, use of insulin at pregnancy and even hypoxia. Thirty to forty percent of patients with complete sacra agenesia can also have myelomeningocele, and the displacement of nerve roots worsens the neurological disorders. In these cases, hydrocephaly, many times associated to Chiari malformation type II, is also present at birth. Clinical case: a neonate with sacra agenesia associated to spinal dysraphism and hydrocephaly. Surgical intervention was performed early, a peritoneal ventricular derivation was placed and the neural tube defect was repaired. The post-surgery evolution was favorable, but the preoperative neurological deficits persisted. Conclusions: there were no predisposing factors in this patient and the analysis of the cariotype was normal. The bone anomalies of the lower members were the most remarkable aspects as well as the hydrocephaly associated to Chiari malformation type II and myelomeningocele. The treatment of these cases requires multidisciplinary approach and surgical repair of the myelomeningocele at early phase to achieve favorable evolution. The most severe forms can cause early neonatal death; however, those surviving children generally present normal intelligence coefficient

Anterior sacral meningocele

Anterior sacral maningocele is a rare condition presenting as a lower abdominal mass. One such case was seen in a baby girl aged 2 months, who was admitted with abdominal distension and urinary difficulty for one week. She had a lower abdominal mass which investigated by MRI, turned out to be an anterior sacral meningosele causing her symptoms. The meningocele was excised successfully via an open abdominal approach. Postoperative recovery and follow-ups remained uneventful. Presentation, various diagnostic modalities and treatment options for an anterior sacral meningocele are briefly discussed

Correlação entre os achados ultra-sonográficos e de ressonância magnética no teratoma sacrococcígeo fetal / Correlation between ultrasonographic and magnetic resonance imaging findings in fetal sacrococcygeal teratoma

OBJETIVO: Correlacionar os achados ultra-sonográficos e de ressonância magnética no teratoma sacrococcígeo fetal. MATERIAIS E MÉTODOS: Três pacientes com idade gestacional entre 30 e 35 semanas, com diagnóstico ultra-sonográfico suspeito de teratoma sacrococcígeo fetal, foram submetidas a ressonância magnética e, posteriormente, a ultra-sonografia para correlação dos achados. Tanto na ressonância magnética quanto na ultra-sonografia foram avaliadas as dimensões, a localização, a extensão e os conteúdos dos tumores. RESULTADOS: A ultra-sonografia e a ressonância magnética obtiveram resultados semelhantes em relação à localização, ao tamanho e ao conteúdo dos tumores. Todas as lesões localizavam-se na região sacrococcígea, com dimensões médias de 6,0 cm x 9,0 cm. Quanto ao conteúdo dos tumores, um dos casos era completamente cístico e dois eram sólidos e císticos. A extensão exata das lesões foi mais bem avaliada pela ressonância magnética do que pela ultra-sonografia, mostrando de forma adequada o acometimento pélvico nos três casos. CONCLUSÃO: A ressonância magnética fetal é capaz de complementar os achados ultra-sonográficos do teratoma sacrococcígeo fetal, uma vez que determina com melhor precisão o conteúdo e a extensão do tumor, auxiliando na conduta terapêutica e aumentando as chances de cura desses fetos.

OBJECTIVE: The present study was aimed at correlating ultrasonographic and magnetic resonance imaging findings in patients with fetal sacrococcygeal teratoma. MATERIALS AND METHODS: Three pregnant women between the 30th and 35th weeks of gestation were submitted to fetal magnetic resonance imaging because of previous ultrasonographic findings suggestive of fetal sacrococcygeal teratoma. Subsequently, they were submitted to ultrasonography for correlation of the imaging findings. Tumors size, location, extent and content were evaluated both at magnetic resonance imaging and ultrasonography. RESULTS: Findings regarding tumor location, size and content were similar for both methods. All the lesions were found in the sacrococcygeal region, with a mean size of 6.0 cm x 9.0 cm. As regards the tumors content, two of them were mixed solid-cystic, and one, entirely cystic. Magnetic resonance imaging was superior to ultrasonography in the evaluation of the exact tumor extent, accurately demonstrating pelvic involvement in all of the three cases. CONCLUSION: Fetal magnetic resonance imaging has showed to be a valuable adjunct to obstetric sonography in the evaluation of fetal sacrococcygeal teratoma, because of its higher accuracy in the determination of these tumors extent and content, playing a significant role in the therapeutic planning and increasing the chances of cure for these fetuses.

True tail in a neonate.

Distinction between true and pseudo trail in lumbo-sacral region is important since treatment and prognosis are different. Fewer than 40 cases have been reported in literature. The authors report a case of true tail in a neonate, a rare event.

Unusual presentation of tailgut cyst as a protruding mass beside the coccyx

Tailgut cyst is a very rare lesion of the retrorectal space seemingly derived from embryonic remnants of the tailgut which often causes rectal signs and symptoms. A unique case of this lesion presenting as a subcutaneous mass lateral to the coccyx is hereby described

Teratoma sacrococcígeo. Una urgencia quirúrgica neonatal / Sacrococcygeal teratoma. A neonatal surgical urgency

Los autores informan el caso de un recién nacido quien tuvo un tumor muy vascularizado, variante rara de teratoma sacrococcígeo. Presentó insuficiencia cardiaca congestiva y anemia lo cual ocasionó su fallecimiento. Se revisó la literatura para hacer sugerencias respecto al diagnóstico prenatal y al manejo quirúrgico urgente de esta variante de teratoma sacrococcígeo en la etapa neonatal

Carcinoma epidermoide das regioes perianal e sacrococcigea / Epidermoid carcinoma of the perianal and sacrococcygeal region

Os autores analisam 3 casos de carcinoma epidermoide da regiao perianal e sacrococcigea, a partir de lesoes cronicas (2 fistulas anoretais e um cisto sacrococcigeo), observados no Servico de Colo-proctologia dos Hospitais de Caridade e Universitario de Florianopolis, Santa Catarina, nos ultimos 10 anos. Foram submetidos a exame criterioso as caracteristicas de cada lesao, a duracao das mesmas, a tecnica cirurgica empregada no tratamento, a evolucao pos-operatoria e discutidos os achados com a literatura existente.

Afecciones originadas en defectos disraficos lumbosacros congénitos: dermal sinus, meningioma, teratoma sacrocoxígeo / Affections caused in lumbosacral dysraphic defects congenital: dermal sinus, meningocele, sacrococcygeal teratoma

Se presenta la patología originada en defectos disráficos lumbosacros. Se relatan 6 observaciones correspondientes a un período de 20 años: 2 dermal sinus, 3 teratomas sacrocxígeos y 1 meningocele. Se insiste sobre la necesidad de conocer esta patología y del tratamiento quirúrgico precoz, con el fin de evitar las graves complicaciones que origina. En los casos de dermal sinus con conducto fistuloso, cuando no existen síntomas neurológicos ni secreción por orificio cutáneo, es aconsejable efectuar la operación despues de los 18 meses de edad

Persistência da cauda: relato de caso / Human tail: case report

O nascimento de uma criança com apêndice caudal é evento benigno e raro. De acordo com a literatura, a cauda humana é uma estrutura embrionária näo relacionada ao tubo neural e portanto näo associada a malformaçöes congênitas da coluna e medula espinhal. Nosso trabalho apresenta um novo caso de persistência da cauda e a moderna perspectiva científica sobre o assunto é discutida

Síndrome de regressäo caudal (SRC) em filho de mäe diabética pós-pancreatectomia / Caudal regression syndrome in son of diabetic mother post-pancreatectomy

Os autores relatan um caso de síndrome de Regressäo Caudal associado ao diabetes materno pós-pancreatectomia. Säo apresentados dados clínicos, laboratoriais e radiológicos do caso, revisäo da literatura e discutidos os aspectos etiológicos da síndrome. Trata-se do 1§ caso da literatura de SRC associado com diabetes pós-pancreatectomia