Early delivery as an alternative management strategy for selected high-risk fetal sacrococcygeal teratomas.

BACKGROUND: Large, prenatally diagnosed sacrococcygeal teratomas (SCTs) present a formidable challenge because of their unpredictable growth and propensity for complications. In our experience, even with aggressive serial imaging, many fetuses have died under a policy of "watchful waiting." We propose "early delivery" as the best option for selected cases of high-risk fetal SCT. METHODS: The medical charts of all fetuses with SCT followed up at our institution and delivered before 32 weeks of gestation were reviewed for radiologic findings, fetal interventions, delivery information, perinatal inpatient course, and autopsy or discharge report. RESULTS: Between 1996 and 2009, excluding those that underwent fetal surgery, 9 patients with fetal SCT were delivered before 32 weeks of gestation. Four had type I tumors, and 5 had type II tumors. Of the 9 fetuses, 4 survived the neonatal period. The only surviving patient delivered before 28 weeks underwent an ex utero intrapartum therapy procedure. CONCLUSIONS: A significant number of pregnancies complicated by high-risk SCT will manifest signs of fetal or maternal decompensation, or both, between 27 and 32 weeks of gestation. In the absence of fulminant hydrops, preemptive early delivery can be associated with surprisingly good outcomes in appropriately selected fetuses with high-risk SCT.

Congenital tumors of the retrorectal space in the adult: report of two cases and review of the literature.

AIMS AND BACKGROUND: To describe and discuss, on the basis of the authors' experience and a review of the literature, the main aspects regarding the etiology, diagnosis, treatment and prognosis of congenital tumors of the retrorectal space. METHODS: We present 2 cases of congenital retrorectal tumors, a sacrococcygeal teratoma and a dermoid cyst, which represent, from the pathogenetic point of view, the most frequent presentation of the rare tumors of the retrorectal space. RESULTS: The reported cases are typical. The teratoma presented as an encapsulated, mixed mass located in the pelvic cavity behind the rectum and the vaginal canal, without signs of sacral involvement. The dermoid cyst appeared as a unilocular lesion filled with sebum and hair, which extended laterally to the iliopubic branch, medially to the urethra and anal canal, and posteriorly to the adipose tissue of the right buttock. Pelvic MRI produced a precise picture of the extension of the lesion and of the relationship between the mass and the pelvic organs and surrounding bony structures. Both lesions were completely removed via the perineal approach without coccygectomy. No recurrences were observed at 2 years of follow-up. CONCLUSIONS: Congenital retrorectal tumors are rare. MRI is crucial for diagnosis and preoperative planning. Complete surgical removal is the treatment of choice. Resection of the coccyx is necessary only in case of its involvement by the neoplastic mass or suspected malignant transformation.

Laparoscopic-assisted excision of sacrococcygeal teratoma in children.

BACKGROUND: Sacrococcygeal teratoma (SCT) is one of the most common tumors encountered in the neonatal period. Traditionally, a large abdominal incision is required for the combined abdominal perineal approach for the complete resection of type II-IV tumors. In this paper, we report our experience of using the combined laparoscopic perineal approach in treating these tumors. METHODS: Between November 2000 and September 2004, 4 patients with SCT were treated by the combined approach. The operation was started with the laparoscopic mobilization of the pelvic part of the tumor, followed by the completion excision and tumor retrieval through the perineal route. RESULTS: The operation was successfully completed in all patients, with a mean operative time of 279 minutes. There was no complication related to the laparoscopic dissection. Postoperative recovery was uneventful in all patients, except in 1 with a minor wound problem. At a median follow-up of 46.5 months, there was no recurrence encountered in all these patients and the cosmetic result was excellent. Functional outcome was satisfactory, except in the patient with spinal metastases. CONCLUSION: The combined laparoscopic and perineal approach provides a safe, excellent access in removing type II-IV SCT in infants.

Long-term functional sequelae of sacrococcygeal teratoma: a national study in The Netherlands.

BACKGROUND: Long-term functional sequelae after resection of sacrococcygeal teratoma (SCT) are relatively common. This study determines the incidence of these sequelae associated clinical variables and its impact on quality of life (QoL). PATIENTS AND METHODS: Patients with SCT treated from 1980 to 2003 at the pediatric surgical centers in The Netherlands aged more than 3 years received age-specific questionnaires, which assessed parameters reflecting bowel function (involuntary bowel movements, soiling, constipation), urinary incontinence, subjective aspect of the scar, and QoL. These parameters were correlated with clinical variables, which were extracted from the medical records. Risk factors were identified using univariate analysis. RESULTS: Of the 99 posted questionnaires, 79 (80%) were completed. The median age of the patients was 9.7 years (range, 3.2-22.6 years). There were 46% who reported impaired bowel function and/or urinary incontinence (9% involuntary bowel movements, 13% soiling, 17% constipation), and 31% urinary incontinence. In 40%, the scar was cosmetically unacceptable. Age at completion of the questionnaire, Altman classification, sex, and histopathology were not risk factors for any long-term sequelae. Size of the tumor (>500 cm3) was a significant risk factor for cosmetically unacceptable scar (odds ration [OR], 4.73; confidence limit [CL], 1.21-18.47; P = .026). Long-term sequelae were correlated with diminished QoL. CONCLUSION: A large proportion of the patients with SCT have problems with defecation, urinary incontinence, or a cosmetically unacceptable scar that affects QoL. Patients who are at higher risk for the development of long-term sequelae cannot be clearly assessed using clinical variables.

Cytopathologic findings in an immature cystic teratoma: report of an unusual case.

Teratomas are uncommon, usually benign tumors often found in young women. We describe the cytopathology of an unusual case of a large congenital teratoma in a 6-day-old girl. The patient initially showed signs of abdominal distention and a follow-up ultrasound and computerized-tomography (CT) revealed a cystic mass in the pelvis. An ultrasound-guided fine-needle aspiration (FNA) showed small round blue cells suspicious for a primitive neuronal tumor. Resection of the mass displayed a cystic teratoma with distinct nests of small round blue cells representing immature neuroepithelial and glial tissue. Also noted were admixed mature elements of a cystic teratoma. Cytologic finding of a small round blue cell tumor, therefore, was the immature component of the teratoma. This case illustrates the difficulties in diagnosing teratomas due to their extraordinary diversity.

The laparoscopic approach to sacrococcygeal teratomas.

BACKGROUND: Sacrococcygeal teratomas (SCT) are classically approached posteriorly through an inverted chevron incision. In large, external, mainly solid SCT, prior interruption of the arterial supply is warranted because of impending heart failure and life-threatening hemorrhagic diathesis. Hitherto, this has required prior laparotomy. A laparotomy is also added when the tumor extends presacrally into the pelvis. The presacral region is, however, difficult to access. A laparoscopic-assisted approach seems to offer a solution for both problems. METHODS: A laparoscopic-assisted approach was used in five patients with SCT. In one neonate, it was used to interrupt the arterial blood supply only; in the other four patients, it was used to dissect the internal extension of the tumor. RESULTS: Laparoscopic interruption of the median sacral artery proved to be simple in the neonate with a large, external, mainly solid SCT. In three of the remaining four patients with presacral extension of the tumor, good visualization and dissection of the intrapelvic portion of the tumor was obtained. In one patient, the procedure had to be converted because of a lack of working space due to extensive intraabdominal growth of the tumor. CONCLUSION: A laparoscopic-assisted approach seems to be ideal for SCT. It provides the opportunity to interrupt the median sacral artery before the dissection. Moreover, it enables far better access to the presacral area than the conventional surgical approach when the SCT extends presacrally into the pelvis. Such a meticulous laparoscopic dissection may improve the functional results.

Presacral tumors: a practical classification and treatment of a unique and heterogeneous group of diseases.

BACKGROUND: Presacral tumors are a rare and diverse group of diseases that originate from the different tissues that comprise the potential presacral space. Because of their relative rarity, confusion exists regarding their clinical presentation, natural history, and treatment. The aim of this study is to describe a single institution's experience with the management of presacral tumors and to suggest a practical method of classification. METHODS: Records of all patients who underwent operation for presacral tumors from the years 1991 to 2001 were reviewed. Clinical, pathologic, treatment, and outcome variables were evaluated. RESULTS: Forty-two patients were included in the study and were divided into 4 groups according to lesion pathology: benign congenital (n = 12), malignant congenital (n = 9), benign acquired (n = 9), and malignant acquired (n = 12). Symptoms were nonspecific, and 26% of the cases were completely asymptomatic. Diagnosis was made with rectal examination and confirmed with pelvic computerized tomographic scan. Surgical approach varied among the different groups, with the posterior approach used mainly for congenital tumors and the anterior approach for acquired. Complete surgical resection of the tumor was obtained in all cases of benign tumors and in 76% of malignant tumors. No postoperative mortality was seen, and complications occurred in 36% (15/42); most were reversible. None of the patients with benign tumors had recurrences, and all are alive at this time. The survival rate of patients with malignant tumors was significantly improved when complete resection was possible. CONCLUSION: Classification of presacral tumors into congenital versus acquired and benign versus malignant is simple and efficient. Treatment is complete surgical resection, which can be performed safely with low morbidity and no mortality.

Successful therapy in a child with a congenital peripheral medulloepithelioma and disruption of hindquarter development.

PURPOSE: Medulloepithelioma is an embryonal multipotential neuroepithelial tumor with a striking potential for divergent differentiation. It is usually intraocular or intracerebral and associated with a good prognosis only if completely surgically excised. Data regarding therapy in children with incompletely resected tumors are limited. PATIENT AND METHODS: A girl was born with a large, peripheral, congenital medulloepithelioma associated with complete absence of the left hindquarter and anus. Plain film, ultrasonography, and magnetic resonance imaging demonstrated complete absence of the left kidney and hemipelvis. A subtotal resection of the mass and reconstruction of the tumor-related anatomical defects were performed. RESULTS: Pathologic examination showed neuroglia and pseudostratified neuroectoderm diagnostic of medulloepithelioma. She was treated with multiagent chemotherapy including vincristine, cisplatin, cyclophosphamide, carboplatin, and etoposide. She is now 50 months of age and developing normally without recurrent disease. CONCLUSIONS: A child with an incompletely resected congenital peripheral medulloepithelioma who has experienced long-term disease-free survival after treatment with chemotherapy is described. This report supports a role for adjuvant chemotherapy in the treatment of children with peripheral medulloepithelioma.

Spinal canal involvement in infantile myofibromatosis: case report and review of the literature.

PURPOSE: An unusual case of infantile myofibromatosis with spinal canal involvement is reported and the literature is reviewed. PATIENT AND METHODS: A female neonate had bladder and bowel dysfunction and paresis of the lower extremities. RESULTS: Intrapelvic and paravertebral masses with extension into the spinal canal were detected by imaging studies. In addition, radiologic examination showed multiple metaphyseal radiolucent lesions of the long bones and pathologic fracture of the left femur. The histopathologic diagnosis of the paravertebral tumor and bone lesions was infantile myofibromatosis. Surgical resection of the paravertebral and intrapelvic masses was performed to improve her neurologic impairments. Paresis of the lower limbs gradually improved, whereas bladder and bowel dysfunction remained unchanged. CONCLUSIONS: Only six cases of infantile myofibromatosis associated with spinal canal involvement have been reported. Three patients with flaccid paresis of extremities and respiratory distress died in the newborn period. The other three patients showed improvement of the paresis. The prognosis of infantile myofibromatosis without visceral complication is generally good, but neurologic impairment may occur at birth if the spinal cord is compressed.

Ectomesenchymoma: one or two tumors? Case report and review of the literature.

Ectomesenchymoma has not previously been reported in a patient with the cutaneous nevus syndrome. A case of perineal ectomesenchymoma is presented with unusual cytogenetic findings. The significance of these is discussed and the world literature reviewed. This is the first such case reported.

Neonatal soft tissue sarcomas: the influence of pathology on treatment and survival. Children's Cancer Group Surgical Committee.

INTRODUCTION: A multi-institutional study was conducted by the Children's Cancer Group (CCG) to evaluate all soft tissue sarcomas diagnosed within the first month of life. METHODS: A retrospective study by 11 CCG institutions of patient records from 1971 to 1991 were reviewed for demographic data, pathology, therapy, and outcome. RESULTS: 32 neonates with soft tissue sarcomas were identified. There were 21 boys and 11 girls. Pathology was equally divided into three groups: Congenital fibrosarcoma (CFS) (12), rhabdomyosarcoma (RMS) (11), and non-RMS soft tissue sarcomas (NRSTS) (9). Anatomic sites consisted of head/neck (11), extremity (9), trunk (8), pelvis (3), and unknown (2). Overall survival rate was 59% (19/32). CONCLUSION: Soft tissue sarcomas in the neonate comprise three general groups with survival rates dependent on pathology and extent of disease.

Anorectal malformation presenting as Hirschsprung's disease: a case report.

A 3.8 kg female baby, who was born on 7-2-92 by normal vaginal delivery at a zonal hospital in the Southern Highlands of Tanzania, was initially noted to have had an "ectopic" anus (an ano-perineal fistula) but was otherwise normal. She had delay in the passage of meconium upto the third day, and by the fifth day had developed marked abdominal distension. Following a period of unsuccessful saline "enemas" she had to undergo a right transverse colostomy in the fourth week (which relieved the distension) for what was then presumed to be Hirschsprung's Disease. She was referred to the National Referral hospital in Dar es Salaam a year later, where she was found to have an entirely intra-pelvic sacrococcygeal teratoma in association with a "low" anorectal malformation. This unusual case is of interest because of the rare association of intrapelvic sacrococcygeal teratoma with anorectal malformation which led to the initial mis-diagnosis of hirschsprung's disease.

Urinary retention in infants: unusual presentation of pelvic tumors.

Infants presenting with urinary retention must be evaluated for the presence of presacral neoplasm. Two cases--a newborn and a seven-month-old infant--are presented that illustrate the need for prompt radiologic evaluation in order to detect or exclude a pelvic tumor.

[Malignant neonatal tumors]. / Tumeurs néonatales malignes.

Malignant neonatal tumors are rare (2% of childhood cancers, 1-2 cases/30,000 births). However, specificities in diagnosis and therapy must be underlined at this period of life; furthermore, the possibilities of antenatal sonographic diagnosis are improving and it may contribute to increase their incidence. Topographic analysis allows etiologic investigations since these tumors have the same diagnostic features as compared with older children, except Pepper's syndrome and leukemias. Therapeutic management depends on a rather good prognosis and fragility of such newborn. Indeed, surgical excision is the main step of treatment. Radiotherapy must be avoided whenever possible. Chemotherapy may be indicated (metastatic or unresectable tumors, omission or delay of irradiation in brain tumors) and has to be elaborated cautiously, according to the peculiar physiology of the neonate. Whatever the therapeutic strategy is, neonatal homeostasis must be well balanced, which implies a multidisciplinary specialized team. Respecting these conditions will help to cure more than the present 50% and better for future well being of such children.

Infantile myofibromatosis: an unusual presentation and a review of the literature.

An infant with an unusual presentation of Infantile Myofibromatosis (IM) is presented. Massive involvement of the pelvic region complicated the delivery and precluded meaningful therapy. The literature is reviewed.

[Congenital cervico-vaginal atresia and pelvic endometriosis. Clinical case and review of the literature]. / Angeborene zerviko-vaginale Atresie und Beckenendometriose. Klinischer Fall und Literaturübersicht.

Congenital cervico-vaginal atresia is a rare malformation; the presence of a functioning endometrium combined with this anomaly causes a retrograde menstruation and then a greater likelihood of endometriosis. Up to the present literature relates only thirteen cases in which congenital cervico-vaginal atresia was combined with a functioning endometrium. Primary amenorrhea and cyclic, cramping lower abdominal pain was the common symptoms of all the patients. In this work we report a new case of such pathology in a 23 old woman affected also by harmonic nanism. After the review of the literature the embryologic mechanisms involved in lower Mullerian tract malformations, the surgical treatment and the mechanism of formation of endometriosis in association with an outflow tract obstruction are discussed.

Retrorectal tumors. Mayo Clinic experience, 1960-1979.

One hundred twenty patients with primary retrorectal tumors (79 congenital, 14 neurogenic, 13 osseous, and 14 miscellaneous) had their initial treatment at the Mayo Clinic from 1960 to 1979. The mean age was 43 years (100 patients were adults). Female predominance was associated with congenital cysts (15:1) and male predominance with chordomas (5:1). Forty-three percent of the patients had malignant lesions. No dermoid cysts were found in this series. Diagnosis was made by digital examination or sacral radiographs in all patients. Computed tomography scan was the most important diagnostic method; the rate of positive findings was 100 percent in 20 patients. Approach to the tumor was posterior in 79 of 102 patients in whom resection was possible. Ten of 66 patients with benign tumors had recurrence. The five-year survival rate for patients with chordomas was 75 percent and for patients with other malignant lesions was 17 percent. Because preoperative biopsy can cause tumor spread, abscess, fecal fistula, or meningitis, it should not be performed if tumors are potentially resectable. Whenever possible, total resection should be done.

Congenital neurogenous sarcoma with rhabdomyosarcomatous differentiation.

A congenital malignant peripheral nerve sheath tumor contained small rhabdomyosarcomatous portions in both the retroperitoneal pelvic primary and in the subpleural lung metastasis. There was no family history of Von Recklinghausen's disease. Of the 10 patients with this tumor previously reported, the youngest is 14 yr old, and eight had familial neurofibromatosis.