Congenital Midline Spinal Hamartoma in a 5-Month-Old Infant.

BACKGROUND: Congenital midline spinal hamartoma is a very rare tumor-like proliferation that mostly occurs during childhood. It consists of mature, well-differentiated ectodermal and mesodermal elements that present in an abnormal location and are mostly associated with neurofibromatosis type 1 and spinal dysraphism. CASE DESCRIPTION: A 5-month-old male patient presented with complaint of a bump over the lower back. The bump was already present since birth with the size of approximately 3 cm in diameter and slow growth. There were no other associated symptoms besides the bump on the lower back. In the physical examination, we found a subcutaneous mass with associated skin dimple located on the midline of the lower back. Computed tomography scan of the spine showed a mass that arose from inside the dura and a closed spinal dysraphism from L3 vertebra to the sacrum. A subtotal resection was performed, and the histopathology feature showed fat cells, cartilage, skeletal muscle fibers, nerve, and blood vessel. After 6 months follow-up, no symptoms or neurologic deficit were present, and no further growth was shown on the latest computed tomography scan. CONCLUSIONS: Congenital midline spinal hamartoma is very rare and seldom addressed. Most patients present with a cosmetic defect and rarely with associated symptoms. Tissue biopsy is still the best modality to definitively diagnose hamartoma and to exclude other diagnoses. Surgical excision of the tumor is still the mainstay treatment, especially for patients who are not neurologically intact and to correct the cosmetic skin defect.

[Preoperative Diagnosis of Spinal Immature Teratoma Associated with Cerebrospinal Fluid Leakage from the Congenital Dermal Sinus Tract in a 0-Day-Old Infant:A Case Report].

We report the case of a patient with spinal immature teratoma and cerebrospinal fluid leakage from the congenital dermal sinus tract. A 0-day-old female infant presented with a subcutaneous soft mass with a dimple in the lumbosacral region at birth. Magnetic resonance imaging revealed a mixed low-intensity mass located in the extraspinal and intraspinal canal with a sinus tract. The reconstructed three-dimensional spinal computed tomography image showed spina bifida and ectopic ossification at the dorsal aspect of the sacrum. Urgent removal of the tumor and dermal sinus tract was then performed under evoked electromyography monitoring. The resected tumor was histopathologically diagnosed as immature teratoma.

Risk factors for perioperative mortality and transfusion in sacrococcygeal teratoma resections.

BACKGROUND: Sacrococcygeal teratomas are a common congenital tumor. Surgical resection can occur in utero, in the neonatal period, or in the postneonatal period. AIMS: We describe patient and tumor factors associated with mortality and transfusion in this population. METHODS: We did a retrospective chart review of patients who underwent sacrococcygeal teratoma resection between January 1998 and March 2016. Demographic data, transfusion data, and tumor characteristics were collected. Descriptive statistics were calculated, and univariate comparisons were performed with chi-square test and Fisher's exact test. Variables significant at univariate level were used in multivariate logistic regression and negative binomial regression. RESULTS: Of the 112 cases, 6 were in utero repairs, 73 were neonatal repairs, and 33 were repairs at >30 days of life. There was 17%, 1%, and 0% intraoperative mortality and 33%, 5%, and 0% 30-day mortality in the in utero, neonatal, and >30 days of life repairs, respectively. All six patients who died within the first 30 days of life had a postmenstrual age of <32 weeks at time of surgery. All six patients who died had noncystic tumors. Patients with noncystic tumors were more likely to be born prior to 30-week gestation (23/65 vs 6/47; χ2 = 7.3; P = 0.007). Gestational age >30 weeks was associated with decreased intraoperative death (0% vs 10%; modified maximum likelihood estimate of OR 0.05; 95% CI 0.002-0.96; P = 0.02). Gestational age >30 weeks (2.4% vs 13.8%; OR 0.15; 95% CI 0.03-0.89; P = 0.04) and cystic morphology (0% vs 9.2%; modified maximum likelihood estimate of OR 0.1; CI 0.01-1.75; P = 0.04) were associated with decreased 30-day mortality and emergent surgery (17.9% vs 1.2%; OR 18; 95% CI 2-162.2; P = 0.004) was associated with increased 30-day mortality. Gestational age >30 weeks (33.7% vs 62.1%; OR 0.27; 95% CI 0.09-0.79; P = 0.02) and Altman class 3-4 (12.1% vs 52.7%; OR 0.1; 95% CI 0.03-0.34; P = 0.0002) were associated with decreased need for transfusion and noncystic tumor was associated with increased transfusion volume (131.6 ml·kg-1 [95% CI 94-184] vs 63 ml·kg-1 [95% CI 40-100.1]; P = 0.01). CONCLUSIONS: Prematurity is associated with increased intraoperative and 30-day mortality. Noncystic tumor morphology was the only significant factor associated with transfusion volume and all six patients who died had transfusion volumes of 240 ml·kg-1 or greater. In these patients at high risk of mortality due to blood loss, the anesthesia team should be prepared to manage massive transfusion and coagulopathy with blood components and pharmacologic measures.

Neuroblastoma presenting with symptoms of epidural compression at birth: a case report.

BACKGROUND: Five to 10 % of children with neuroblastoma present with symptoms of epidural compression (EC). More than half these patients are diagnosed in the first year of life. The case of a neuroblastoma presenting symptoms of EC at birth is exceptional and deserves to be reported. CASE PRESENTATION: We describe a case of female born at the 36(th) week of pregnancy by caesarian section decided following ultrasonographic discovery of oligohydramnios. At birth, she was noted to have motor deficit involving both legs and continuous urinary dripping. These symptoms were found to be secondary to a paraspinal neuroblastoma infiltrating the spinal canal. Tumor responded well to chemotherapy, but neurologic deficit only slightly improved and bladder dysfunction remained unchanged. At 2 years of age, patient is able to walk with help of leg orthoses, suffers chronic constipation requiring daily medications, and has neurologic bladder necessitating multiple daily catheterizations. CONCLUSIONS: The finding of a newborn presenting with symptoms of EC secondary to a neuroblastoma invading the spinal canal is quite uncommon. The case described herewith confirms that these rare patients have an excellent survival probability, but almost always develop severe functional sequelae.

Spinal lipoma as a dysembryogenetic anomaly: Four unusual cases of ectopic iliac rib within the spinal lipoma.

BACKGROUND: Congenital spinal lipomas are closed spinal dysraphisms belonging to the neural tube defects (NTDs) group. They include a broad spectrum of lesions ranging from simple lipomas of the filum terminale to complex malformations. On histological evaluation, various tissue components of ectodermal, mesodermal or endodermal origin are found within the lipomas, with prevalence for nerves and striated muscle and, more rarely, cartilage and bone. Overall, rib malformations have been occasionally observed in patients with NTDs and in NTD mouse models. However, an ectopic rib arising within the spinal lipoma and articulating with the iliac crest has not been reported in either animal models or in humans. CASES: We describe four patients affected by lipomyeloschisis or lipomyelomeningocele, with an unusual fibrocartilaginous protuberance arising within the lipoma and connecting to one iliac crest, strongly resembling an ectopic rib. Histological evaluation confirmed the presence of cartilaginous tissue. CONCLUSION: We expand the clinical spectrum of fibrocartilaginous anomalies associated with spinal lipoma, suggesting the presence of an ectopic rib as a new possible phenotype in NTDs. A careful analysis by neuroradiologists and pathologists should be performed in spinal lipomas to assess the presence of an ectopic rib or other uncommon developmental anomalies. Furthermore, molecular studies are required to detect the genetic cause of this unusual phenotype. Birth Defects Research (Part A) 106:530-535, 2016. © 2016 Wiley Periodicals, Inc.

A case of Currarino's syndrome presenting as neonatal bowel obstruction.

We describe a male infant presenting in the neonatal period with bowel obstruction who had features of anal stenosis, a presacral teratoma, and a sacral anomaly consistent with Currarino's syndrome. Initial management involved a defunctioning colostomy followed by a posterior sagittal excision of the teratoma and repair of the anorectal defect. The proband's eldest sister is also affected with features of Currarino's syndrome but was diagnosed later in life. The proband, his sister, and the mother have been identified to have the HLXB9 mutation mapped to chromosome 7q36.

[Bladder and bowel function in children with congenital spinal lipomatus malformations. A retrospective study of 114 cases]. / Devenir vésicosphinctérien et anorectal des enfants ayant un lipome du cône. Analyse rétrospective sur 114 cas.

OBJECTIVE: To clarify bladder and bowel function of children with lipomas of the conus, without, before and after neurosurgery. PATIENTS AND METHODS: Retrospective analysis of 114 children with a lipomas of the conus, followed in our pediatric neuro-urology department from 1993 to 2010. Several data were collected: bladder and bowel symptoms, bladder and anorectal continence, neurosurgical indication and age, clinical modification after neurosurgery, investigations carried out in pre- and post-surgery treatment, associated bladder and bowel treatment. RESULTS: Forty-nine of the 77 children (63.6%) operated on had never been seen before surgery in our neuro-urology department. Seventy-seven children (67.5%) underwent a neuro-surgery, 60% indicated due to a neurogenic bladder. Before neurosurgery, 66 children (85.7%) had spontaneous miction. Five children (6.5%) had bladder intermittent catheterization. Forty of these patients (56.3%) were continent. After neurosurgery and a specialized consultation in neuro-urology, 54 children (70.1%) were continent. Thirty-seven children (48%) had spontaneous miction. Thirty-seven children (48%) had bladder intermittent catheterization and drug of overactive detrusor. Fifty-two children (67.5%) were constipated after surgery. Seventy-seven percent of the treatments for bowel symptoms were effective in terms of continence. CONCLUSION: The existence of a neurogenic bladder was one of the main indications for neurosurgery. These results suggest that the complexity of care requires neurosurgical, urological surgeon and neuro-urology physician to achieve the explorations and urinary and digestive treatment in order to preserve renal function and both continences.

Congenital paraspinal Ewing sarcoma family of tumors with an epidural extension.

Congenital Ewing sarcoma family of tumors (ESFT) is a rare disease, and only 12 patients have been reported. Among those patients, only two had paraspinal tumors with an epidural extension. A 3-week-old infant boy presented with a huge dorsal mass. Whole-spine MRI scans showed a paraspinal mass with an epidural extension from the T11 to L2 levels, causing severe spinal cord compression. An initial operation was performed to confirm the pathological diagnosis. Twenty days after the first operation, the patient showed left lower-extremity weakness. A second operation was performed with a laminectomy from the T11 to L2 levels, and the epidural mass was radically resected. Pathologically, the tumor was confirmed as an ESFT. The patient received adjuvant chemotherapy. His neurological deficit recovered after the second surgery, and there was no tumor recurrence during 17 months of follow-up.

Congenital tumors of the central nervous system: the MCH experience.

INTRODUCTION: Congenital brain tumors in the younger pediatric population are rare lesions that are histologically distinct from those in the older pediatric population. Malignant histology is common, with persistently poor outcomes despite accessible neuroimaging and evolving adjuvant therapy. There remains scant literature about the natural history of these patients because of rarity and varied institutional experiences. METHODS: A retrospective review was performed of congenital brain tumor patients surgically treated at the Montreal Children's Hospital (MCH) over a 22-year period. Patients presenting in the first year of life were evaluated for demographic information, presenting symptoms, lesion location, and management. Analysis was by median rank test and chi(2) statistics. RESULTS: 13 cases of congenital brain tumors were identified: 5 supratentorial and 8 infratentorial. Median age (p = 0.93) and gender (p = 0.57) did not differ by location, and predominant histologies were choroid plexus papilloma and primitive neuroectodermal tumor. Seizure activity was exclusive to supratentorial lesions (40%, p = 0.03), with hypotonia observed only among infratentorial lesions (50%, p = 0.02). There was equal incidence of hydrocephalus (69%, p = 0.57) and increasing head circumference (38%, p = 0.27) by lesion location. Supratentorial lesions were treated by total resection (n = 3), subtotal resection (n = 1), and biopsy (n = 1). Infratentorial lesions were treated by total resection (n = 1), subtotal resection (n = 2), biopsy (n = 1), no operation (n = 2), and decompressive laminectomy for two spinal lesions. CONCLUSIONS: Congenital brain tumor patients represent fewer than 2% of patients treated at MCH. An evolving understanding of management objectives for these lesions requires understanding institutional experiences. Patients with supratentorial lesions frequently present with seizures, hydrocephalus, and macrocrania, and more frequently underwent total resection at surgery.

[Internally situated sacrococcygeal teratomas, often invisible but not harmless]. / Inwendig gelegen sacrococcygeale teratomen. Vaak onzichtbaar, maar niet onschuldig.

A sacrococcygeal teratoma (SCT) may be completely concealed within the pelvis and therefore not be visible externally. Symptoms of such an SCT can be very aspecific. We present 4 patients with an intrapelvic SCT. The first patient, a newborn girl, had an antenatally-diagnosed cystic mass in her pelvis, which was a benign SCT. After removal she suffered from neurogenic bladder dysfunction. The second patient was a 2-year-old boy who after two incomplete resections of a benign intrapelvic SCT, developed a malignant SCT. The other 2 patients, 2 girls aged 4 and 15 years, both presented with constipation and abdominal pain and were diagnosed as having an SCT. Early detection and radical excision, including removal of the os coccygis, are necessary to prevent development of malignancy. Long-term functional sequelae can occur after excision.

[Cervical congenital hemangioma: diagnosis and management difficulties]. / Hémangiome cervical congénital: difficultés de diagnostic et de prise en charge.

Rapidly involuting congenital haemangioma (RICH) is a rare vascular tumour whose antenatal diagnosis is difficult. During ultrasound examination at 32nd weeks' gestation, a voluminous heterogeneous cephalic lesion was discovered that could be a haemangioma or a teratoma. A caesarean delivery was performed. The tumour was removed directly after birth. The pathology examination concluded on a RICH. Antenatal, prepartum and postnatal management are not consensual and must consider the lesion size.

A challenging delivery by EXIT procedure of a fetus with a giant cervical teratoma.

BACKGROUND: Congenital giant neck teratomas are rare tumours associated with high perinatal mortality. Recent advances in prenatal diagnosis and delivery by ex utero intrapartum treatment (EXIT) have improved perinatal outcome. CASE: An otherwise healthy 32-year-old woman, gravida 3, para 2, was referred to our institution at 25 weeks' gestation with a diagnosis of a fetal giant cervical teratoma. Ultrasound and magnetic resonance imaging (MRI) findings suggested airway obstruction in the fetus. An EXIT procedure was attempted but did not result in survival of the baby, despite extensive preoperative planning and the best efforts of a multidisciplinary team. CONCLUSION: Despite prenatal detection and diagnosis of airway compromise in a fetus with a giant neck teratoma, securing the fetal airway can be challenging. This is because massive teratomas can completely distort normal tissue and anatomy.

Long-term functional results following resection of neonatal sacrococcygeal teratoma.

PURPOSE: Sacrococcygeal teratoma (SCT) is the most common congenital neoplasm in neonates. We wished to assess the long-term functional outcome of children undergoing SCT resection. METHODS: Records of neonates diagnosed with SCT from two surgeons' practices, and operated on between 1970 and 2006, were retrospectively reviewed. Patients/parents who consented to participate in the study received a questionnaire, focusing on fecal and urinary continence, constipation and lower extremity weakness. RESULTS: Forty-six patients were identified. Four had died (3 from malignant tumors and 1 motor vehicle accident at 18 years). Of the 42 remaining cases, 39 were benign and 3 were malignant; 2 of the former developed malignant recurrences. Twenty-seven agreed to participate and 14 (52%) completed the questionnaire. Median age of respondents was 16.7 years (3-29), and none of the respondents had a recurrent tumor. Thirteen of the 14 respondents experienced no problem with urinary or fecal incontinence, or lower extremity weakness. The remaining patient had all three problems, but his SCT had involved the spinal cord. Of the ten patients who commented on constipation, one had significant constipation, five occasional constipation, and four no constipation. CONCLUSIONS: Functional results after resection of neonatal SCT are excellent, with only a small number of patients reporting problems with fecal or urinary continence, or lower extremity weakness. Constipation is relatively common. This information is important for counseling families with fetal or neonatal SCT.

Chemotherapy as a therapeutic option for congenital neuroblastoma complicated by paraplegia.

BACKGROUND: Spinal compression can be a complication of neuroblastoma (NBL). Delayed or insufficient treatment of this condition may lead to permanent neurological sequelae. Therefore, appropriate treatment should be introduced promptly. Therapeutic options include neurosurgery, chemotherapy, and radiation therapy. CASE REPORT: We report on a newborn male with congenital NBL who presented with complete paraplegia of the legs at birth. Tumor size diminished quickly and neurological symptoms partly recovered after the patient received chemotherapy consisting of vincristine, doxorubicine, and cyclophosphamide. CONCLUSION: Rapid initiation of chemotherapy was safe and effective in a neonate with NBL complicated by spinal cord compression.

Extragonadal teratomas presenting at birth and originating from 3 different sites--a report of 3 cases.

Three cases of extragonadal teratomas presented at birth and all the cases arisen from three separate sites are reported in the present study. A huge sacrococcygeal teratoma is being reported and the other two retroperitoneal and nasopharyngeal teratomas, are reported for the rarity of their location in neonatal period. Teratomas of all three babies were mature benign on histopathology and surgical removal sufficed as mode of treatment. No recurrence was noted on follow-up.