Agenesia caudal con disrafismo espinal cerrado, reporte de un caso / Caudal agenesis with closed spinal dysraphism, a case report / Caudal agenesis with closed spinal dysraphism, a case report

RESUMEN La agenesia caudal es una patología poco frecuente; es difícil su diagnóstico y evaluación fetal. La presencia de disrafismo espinal cerrado a nivel del sacro debe obligarnos a evaluar la anatomía del sacro. La visualización del cono medular es una forma muy útil en la evaluación y descarte de disrafismo espinal cerrado y agenesia caudal. Comunicamos un caso poco frecuente de agenesia caudal.

ABSTRACT Caudal agenesis is a rare pathology, its diagnosis and fetal evaluation are complex. The presence of closed spinal dysraphism at the level of the sacrum should compel us to evaluate the anatomy of the sacrum. The evaluation of the medullary cone is very useful to evaluate and exclude closed spinal dysraphism and caudal agenesis. We report a rare case of caudal agenesis.

Currarino syndrome in an adult woman

Currarino syndrome is a hereditary disease characterized by the triad of sacral agenesis, anorectal malformation, and presacral mass. Most patients are diagnosed in childhood, and this condition rarely manifests in adulthood. In women, gynecological malformations associated with Currarino syndrome have been reported, such as bicornuate uterus, rectovaginal fistula, and septate uterus. We present a rare case of a 29-year-old woman with a suspected pelvic mass who was diagnosed with 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

Inguinal Ectopic Scrotum, Anorectal Malformation with Sacral Agenesis and Limb Defects: An Unusual Presentation / 소아외과

A case of congenital ectopic scrotum in neonatal period is described. The ectopic scrotum was located in the right inguinal area and the left hemiscrotum was found in normal location and each hemi-scrotum contained their testis. The neonate also had imperforate anus as low anorectal malformation with spinal abnormalities (hemi-sacrum and hemi-pelvis), right knee flexion contracture and right club foot. The embryological explanation in the literature of ectopic scrotum and its associated anomalies is discussed.

Caudal regression syndrome: a rare case report.

Caudal regression syndrome is a rare disorder characterised by abnormal development of structures in the caudal region of the embryo like lower lumbar and sacral vertebrae, urogenital and lower gastrointestinal system. It is secondary to abnormal development of mesoderm. Multiple hypotheses like genetic, metabolic and vascular hypoperfusion have been proposed as etiologies. It can be picked up in early second trimester by ultrasound. It has a higher incidence in diabetic pregnancies.

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.

A Case of Type IV Sacral Agenesis: A case report

Sacral agenesis is an uncommon condition characterized by absence of different segments of lumbar spine along with total or partial absence of sacrum. It does not have an established etiology but may be associated with insulin dependent diabetes mellitus in the mother. Motor deficits are present and correspond to the level of vertebral agenesis. Sensation is better preserved than motor function. Orthopedic deformities such as hip dislocation, flexion contractures, genu recurvatum, posterior compartment atrophy, scoliosis and so on are observed. Urinary and bladder dysfunction are constant and it can lead to fatal kidney damage, finally. We report one case of type IV sacral agenesis with review of literature.

Sacral Agenesis in Children: 15 Year Experiences

PURPOSE: Sacral agenesis may occur as an isolated lesion or in conjunction with other syndromes of caudal regression. Patients with disorder often have varying degrees of vesical dysfunction. Our longitudinal experience with cohort of patients with sacral agenesis provides the model for clinimetrics in care of children with congenital anomalies. MATERIALS AND METHODS: Between 1984 and 1998, we evaluated 33 children(18 boys, 15 girls) with sacral agenesis. All patients were evaluated with renal ultrasound, cystometrogram, and voiding cystourethrogram. RESULTS: The age at initial evaluation ranged from newborns to 18 years of age, with a mean age of 5.5 years. The follow-up period ranged from 1 week to 14 years, with a mean of 7.2 years. Associated genitourinary anomalies were present in 23 patients. Only four children had no associated anomalies. And then 27 patients have maintained native bladder while 6 children underwent surgery for small bladder. Urinary continence was evaluated in 27 patients. Twenty-one patients are complete or partial dry on intermittent catheterization ; 6 patients are managed with pull-ups; none showed normal voiding. Of the 31 patients where pressure based bladder capacity could measured, only 3 patients had age expected bladder capacity; all others had an average of 56% below the age expected bladder capacity. Most patients have maintained stable renal function and renal growth. Two patients had scarring to the refluxing units with one eventually requiring nephrectomy for chronic infection. CONCLUSION: Our experience illustrates that sacral agenesis patients have a high incidence of associated genitourinary and anorectal anomalies. Continence may be achieved with clean intermittent catheterization. The outcomes of consistent upper tact preservation and absence of high-pressure bladder suggest that sequential urodynamic evaluation can be streamlined.