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1/9. Currarino triad--diagnostic dilemma and a combined surgical approach.

    PURPOSE: The authors present 2 families with 3 cases of Currarino triad, diagnostic difficulties, their familial occurrence, and genetic mapping, with emphasis on a combined pediatric surgical and pediatric neurosurgical approach in managing these children. RESULTS: The main presentation was intractable constipation. In the first family there was a 4-generation pedigree with recurrence of Currarino triad. The mother and the child have the condition. family 2 screening showed a 3-generation pedigree with presence of Currarino triad in 3 members. patients 2 and 3 are cousins whose fathers are affected by spina bifida occulta and Currarino triad, respectively. In patient 1, the diagnosis was made after inadvertent rupture of an anterior meningocele during posterior myectomy. In patient 2, the presacral mass was found on examination under anesthesia, and the planned anorectal myectomy for intractable constipation was abandoned. Patient 3 was a cousin of patient 2, and the diagnosis was considered when she presented with intractable constipation at the age of 7 months. Magnetic resonance scan was useful in showing the presence of presacral mass, spinal abnormalities, and tethered cord. A combined pediatric and neurosurgical approach optimized the extirpation of the presacral mass with minimal complications. Surgical treatment was individualized according to the estimation of the operative risk factors. All patients have a normal bladder function. Patient 1 has required laxatives and enemas for intermittent constipation. She has associated learning difficulties but is otherwise well. Patient 2 and 3, aged 10 and 2 years, respectively, are awaiting closure of colostomy. They are thriving and well. CONCLUSIONS: The authors recommend a combined pediatric and neurosurgical assessment and management for all cases of Currarino triad. family screening is obligatory. The authors suggest the use of a magnetic resonance scan or computerized axial tomography myelogram to define the presence of anosacral and spinal cord anomalies in patients with intractable constipation.
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ranking = 1
keywords = meningocele
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2/9. Anterior sacral meningocele: report of five cases and review of the literature.

    Five new cases of anterior sacral meningocele are presented, including one secondary to neurofibromatosis, a previously undescribed association. The literature is reviewed, drawing attention to the relationship between anterior sacral meningocele, sacral dysgenesis, and other congenital anomalies. Special consideration is given to the clinical features of this entity, as well as to the techniques and results of surgical management.
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ranking = 6
keywords = meningocele
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3/9. A case of occult intrasacral meningocele presented with atypical bowel symptoms.

    CASE REPORT: We report a case of an occult intrasacral meningocele. An 11-year-old boy presented with atypical bowel symptoms, severe constipation, and stool incontinence. Magnetic resonance (MR) imaging disclosed an intrasacral cyst containing cerebrospinal fluid (CSF). We diagnosed an occult intrasacral meningocele and performed perforation of the cyst and closure of the fistula. The patient was free from constipation and stool incontinence after the operation. DISCUSSION: We discuss the clinical features and neuroradiological findings of this rare condition.
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ranking = 6
keywords = meningocele
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4/9. 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.
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ranking = 2
keywords = meningocele
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5/9. "Like mother, like son:" hereditary anterior sacral meningocele. Case report and review of the literature.

    Anterior sacral meningocele (ASM) is a relatively rare, congenital disorder. Usually it presents sporadically, but there are case reports of hereditary ASMs and evidence of a dominant mode of inheritance. In this article the authors describe a case illustrating the hereditary nature of ASM and present available literature on the disease. The authors present the case of a 19-month-old boy in whom an ASM was diagnosed during a workup for constipation. The child's 31-year-old mother had been treated for the same condition 20 years earlier, when she had presented with back pain. These cases are discussed in the context of previous reports of similar cases. There are several case reports in the literature in which an ASM occurred as a familial, isolated disorder (in the absence of other caudal abnormalities or syndromes). The condition is reported more commonly in women, but it is unclear whether this is a true difference in prevalence or a diagnosis or reporting bias. A review of the literature indicates an autosomal-dominant inheritance with variable penetrance and presentation. Anterior sacral meningoceles can be hereditary. Given the potential complications of the disease if left untreated and the simplicity of screening--obtaining an abdominal radiograph and the patient's clinical history--we recommend screening of immediate family members of affected individuals. Surgical treatment is recommended if an ASM is discovered.
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ranking = 6
keywords = meningocele
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6/9. The Currarino triad: neurosurgical considerations.

    OBJECTIVES: The Currarino triad, a relatively uncommon hereditary disorder, is often associated with tethered cord and anterior myelomeningocele. Little is known of the implications of these neuroanatomic malformations or of the neurosurgical attitude. The objective of this study is to identify the spinal cord and meningeal malformations associated with the Currarino triad and to discuss the risks and benefits of surgical intervention. methods: We analyzed the spinal cord malformations and the neurosurgical involvement with the Currarino triad by retrospective chart review. RESULTS: The Currarino triad neuroanatomic malformations were identified in five patients. The Currarino triad was associated with a tethered cord in three patients, a myelomeningocele in five patients, a syrinx in two patients, a fistula between the colon and spinal canal in two patients, and an Arnold-Chiari Type 1 malformation in one patient. CONCLUSION: Full spine imaging is required for all patients diagnosed with the Currarino triad. magnetic resonance imaging of the head should be performed in every patient with neuroanatomic anomalies. Surgery of an anterior myelomeningocele is not necessarily indicated, only in the rare case in which the space-occupying aspect is expected to cause constipation or problems during pregnancy or delivery. constipation directly after birth is seen in virtually all patients with the triad. Therefore, constipation cannot be used to diagnose a tethered cord syndrome nor indicate tethered cord release. Fistulas between the spinal canal and colon have to be operated on directly.
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ranking = 3
keywords = meningocele
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7/9. cleft lip and palate, sensorineural deafness, and sacral lipoma in two brothers: a possible example of the disorganisation mutant.

    We report two brothers of Chinese origin who have an apparently unique syndrome of cleft lip/palate, profound sensorineural deafness, and a sacral lipoma. Additional findings which were not common to both were aberrant digital appendages on the heel and thigh of one boy and an anterior sacral meningocele and dislocated hip in the other. intelligence is normal in both. Both boys suffer from functional constipation but biopsy studies showed no evidence of Hirschsprung's disease. The parents, who are normal, are not related. Inheritance is probably autosomal or X linked recessive. A possible link with the disorganisation mouse mutant is discussed.
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ranking = 1
keywords = meningocele
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8/9. Anterior sacral meningocele. A presentation of three cases.

    Anterior sacral meningoceles are congenital lesions that consist of a spinal fluid-filled sac in the pelvis communicating by a small neck with the spinal subarachnoid space through a defect in the sacrum. The three patients with this disorder presented here had characteristic symptoms snd physical findings: chronic constipation, a pelvic mass, and almost unmistakable roentgenographic changes, but diagnosis was delayed from 11 months to 21 years in all three. After prolonged and complicated treatment, the primary lesions have been surgically eradicated and function is generally satisfactory.
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ranking = 5
keywords = meningocele
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9/9. Tethered cord with anorectal malformation, sacral anomalies and presacral masses: an under-recognized association.

    The association of congenital anal stenosis, scimitar-shaped sacral defect and a presacral mass is known as the Currarino triad. These patients present with constipation of variable severity which may result from a combination of compression by the mass, neurogenic dysfunction as well as anal stenosis itself. We have treated three patients who illustrate the spectrum of severity of this condition. All had an associated tethered cord. One was cured by a single anal dilatation, cord release and anterior meningocele repair. The second did not improve after anoplasty and neurosurgical intervention. A previously diagnosed rectal ectasia was felt to be contributory to the constipation and was treated by low anterior resection with excellent results. The third patient developed an ischiorectal abscess that required drainage and colostomy after unsuccessful dilatation of a very tight and deeply scarred anal stenosis. A subsequent tethered cord release and closure of the anterior meningocele was followed by an anoplasty. colostomy was closed at a later date. In all patients with anal stenosis a search should be made for a presacral mass and its associated sacral defect. Release of the tethered cord, resection of the presacral mass and/or closure of the anterior meningocele are essential for optimal functional results.
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ranking = 3
keywords = meningocele
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