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1/18. Presacral tumor associated with the Currarino triad in an adolescent.

    A 17-year-old woman presented with pain over the sacral region. Plain radiographs of the sacrum demonstrated a bony deformity of the sacrococcygeal region in the shape of a scimitar. magnetic resonance imaging showed a cystic mass of the presacral region which appeared to be continuous with the dural sac. An anteroposterior view myelogram revealed caudal elongation of the dural sac, and on the lateral view it was recognized as an anterior meningocele. At surgery, we confirmed a connection between the presacral mass and the rectum. In light of the combination of a sacral bony deformity, presacral mass including meningocele, and mass-rectum connection, we made the diagnosis of the Currarino triad, which is a rare complex of congenital caudal anomalies. The patient underwent excision of the presacral mass. Histologic examination of the resected specimen revealed features of an epidermoid cyst.
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2/18. Recurrent meningitis associated with complete Currarino triad in an adult--case report.

    A 58-year-old woman presented with Currarino triad manifesting as recurrent meningitis. Currarino triad is a combination of a presacral mass, a congenital sacral bony abnormality, and an anorectal malformation, which is caused by dorsal-ventral patterning defects during embryonic development. She had a history of treatment for anal stenosis in her childhood. Radiographic examinations demonstrated the characteristic findings of Currarino triad and a complicated mass lesion. The diagnosis was recurrent meningitis related to the anterior sacral meningocele. neck ligation of the meningocele was performed via a posterior transsacral approach after treatment with antibiotics. At surgery, an epidermoid cyst was observed inside the meningocele. The cyst content was aspirated. She suffered no further episodes of meningitis. The meningitis was probably part of the clinical course of Currarino triad. radiography of the sacrum and magnetic resonance imaging are recommended for patients with meningitis of unknown origin. The early diagnosis and treatment of this condition are important.
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3/18. Russell silver syndrome and tethered spinal cord.

    CASE REPORT: We report a 20-year-old male with Russell silver syndrome and tethered cord syndrome. This patient presented with non-painful scoliosis. MRI demonstrated a conus medullaris at the superior aspect of the L3 vertebral body. Axial images demonstrated no fat within the filum terminale. There was a horizontal sacrum. The patient had no cutaneous stigmata over the lumbosacral spine indicative of occult spinal dysraphism. At operation, the filum terminale was found to be quite large at approximately 5.0 mm in diameter. Grossly, the filum was found to have several large vessels both anterior and posterior to it. Following transection of the filum the distal cord was noted to withdraw cephalad indicating caudal traction. DISCUSSION: We believe this to be the first report of Russell silver syndrome in conjunction with tethered cord syndrome. Following additional reports, Russell silver syndrome may be added to the differential diagnoses for tethered cord syndrome.
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4/18. Currarino syndrome: proposal of a diagnostic and therapeutic protocol.

    BACKGROUND/PURPOSE: The Currarino syndrome (CS) is a peculiar form of caudal regression syndrome (CRS) characterized by the association of hemisacrum, anorectal malformation (arm), and presacral mass. The authors analyzed retrospectively their series, and they propose a multidisciplinary diagnostic and therapuetic protocol that until now has not been introduced. methods: A series of 6 patients with CS is presented. Five of them were treated initially in other centers. None of them had an early diagnosis. All presented associated anomalies; in 50%, Hirschsprung's disease (HD) and other dysganglionoses were present. One patient died of a presacral ectopic nephroblastoma. RESULTS: Depending on the expressivity, 3 types of CS can be identified, complete, mild, and minimal. Dysganglionoses and HD can be considered part of CS. A multidisciplinary diagnostic and therapeutic protocol is presented. Main points are sacrum x-Ray, molecular genetic diagnosis, radiologic evaluation of every member of CS families, magnetic resonance (MR) evaluation of patient spine and pelvis, suction rectal biopsies, and search for associated anomalies. CONCLUSIONS: This protocol could give a valid contribution to the treatment of CS, allowing an early diagnosis and proposing a rational timing of multidisciplinary surgical procedures. early diagnosis and treatment are essential to avoid morbidity and mortality from an undiagnosed presacral mass.
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5/18. Currarino syndrome associated with penoscrotal inversion and perineal fissure.

    We present an unusual case of Currarino syndrome with a mucosa-lined deep perineal fissure extending to the sacrum, penoscrotal transposition, perineal hypospadias, and a penile ventral skin defect. The child had a sigmoid diverting colostomy because of high anal atresia. magnetic resonance imaging illustrated absence of the levator ani and muscle complex in the pelvis. At 15 months, perianal examination pointed out a fistula orifice and a sac related to the fistula at the left side of the perineal fissure. The fistula, a fluid-filled sac extending to the sacrum, and mucosa overlying the perineal fissure were removed en bloc. The neck of the sac was ligated and divided at the level of the distal sacrum. In the same session, a Glenn-Anderson procedure was performed for penoscrotal transposition, and the penile chordee was released. X-ray showed a bony deformity of the sacrococcygeal region in the shape of a scimitar. Histopathological examination demonstrated that the sac contained glial neuronal islands and nerve fibers. The boy has no neurologic deficits and seems to be well. To our knowledge, these associated malformations are extremely rare.
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6/18. 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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7/18. leiomyomatosis peritonealis disseminata in association with Currarino syndrome?

    BACKGROUND: leiomyomatosis peritonealis disseminata (LPD) is a rare disease in which multiple smooth muscle or smooth muscle-like nodules develop subperitoneally in any part of the abdominal cavity. No reports of multiple congenital malformations associated with LPD have been found in the English literature. CASE PRESENTATION: A 27 year-old patient referred to our gynaecology unit for pelvic pain, amenorrhoea, stress incontinence, chronic constipation and recurrent intestinal and urinary infections. Multiple congenital malformations had previously been diagnosed. Most of these had required surgical treatment in her early life: anorectal malformation with rectovestibular fistula, ectopic right ureteral orifice, megadolichoureter and hemisacrum. An ultrasound scan and computed tomography performed in our department showed an irregular, polylobate, complex 20 cm mass originating from the right pelvis that reached the right hypochondrium and the epigastrium. The patient underwent laparotomy. The three largest abdominal-pelvic masses and multiple independent nodules within the peritoneum were progressively removed. The histological diagnosis was of LPD. CONCLUSION: The case we report is distinctive in that a rare acquired disease, LPD, coexists with multiple congenital malformations recalling a particular subgroup of caudal regression syndrome: the Currarino syndrome.
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8/18. Generalized chondrodysplasia punctata with shortness of humeri and brachymetacarpy: humero-metacarpal (HM) type: variation or heterogeneity?

    We report on a girl with symmetrical rhizomelic shortness of the upper limbs and punctate epiphyseal calcifications noted at birth. Presumably she has normal height, but short nose, short hands, and normal mentation; and on roentgenograms short and wide humeri, symmetrical brachymetacarpy, especially of the 4th metacarpals, and hypoplastic distal phalanges, sagittal clefting of vertebral bodies, and punctate calcifications at various areas including the entire spine, sacrum, hands, feet, trachea, and thyroid cartilage. It is an apparently new syndrome of chondrodysplasia punctata (CP), quite distinct from the classic form (Conradi-Hunermann type), as well as the other well-defined forms of CP. We thus suggest the term chondrodysplasia punctata, humero-metacarpal (HM) type.
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9/18. Antenatal diagnosis of sacral agenesis syndrome in a pregnancy complicated by diabetes mellitus.

    The sacral agenesis syndrome is a severe congenital abnormality consisting of agenesis of the lumbar spine, sacrum, and coccyx, as well as hypoplasia of the lower extremities. It is considered the most characteristic of all congenital anomalies associated with maternal diabetes mellitus. We describe the sonographic and radiologic findings of agenesis of the lumbosacrococcygeal spine with lower limb and genital hypoplasia in the offspring of a woman with both diabetic retinopathy and nephropathy. The diagnosis was established at 25 weeks' gestation and was confirmed by radiologic evaluation of the neonate.
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10/18. Triad of anorectal stenosis, sacral anomaly and presacral mass: a remediable cause of severe constipation.

    Two neonates with intestinal obstruction and two children (aged 1 and 4 years) with severe constipation since birth are reported in whom stenosis of the distal rectum was found. In association with the rectal anomaly, three of them had a presacral tumour (teratoma in two, hamartoma in one) and all had a deformed sacrum. An embryological hypothesis to explain this association has been postulated by Currarino, after whom this triad has been named. Two patients were related (father and daughter). The role of hereditary factors in the occurrence of the syndrome has been reported before. Operative treatment of the rectal stenosis was necessary in all patients. Preoperative diverting colostomy was performed in three cases, followed by a posterior sagittal approach to excise the rectal stenosis and the presacral mass. In one case, persistent cerebrospinal fluid leakage required re-exploration for closure of a tear in a congenitally abnormal dural sac. The fourth patient had undergone a low anterior resection in the past via the abdominal route and needed rectal dilatation afterwards for some time. The final result in all patients appears satisfactory, although follow-up is short. Most cases of this triad have been reported in children but a number of patients have been diagnosed only as adults. Recognition of this triad should imply a careful search for neural crest malformations. Operative treatment to correct all soft tissue anomalies leads to good results.
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