Split cord malformation type 1 with two hemicord lesions.

Split cord malformations are rare entities which may present in an occult manner or in association with other lesions or congenital anomalies. Rarely, these cases may have associated hemicord lesions. We report an unusual case, the first of its kind, a type 1 split cord malformation with two pathologically different lesions (lipoma and dermoid) on one hemicord.

Aggressive Resection of Congenital Lumbosacral Lipomas in Adults: Indications, Techniques, and Outcomes in 122 Patients.

OBJECTIVE: The authors reviewed the treatment of adult patients with congenital intraspinal lipomas with total/near-total resection and discussed their preoperative characteristics, prognostic factors, and surgical outcomes. METHODS: Medical records of 122 adult patients with congenital lumbosacral lipomas undergoing total/near-total resection were systematically analyzed. The cohort was subdivided into 3 groups depending on symptom onset age: group 1 (≤5 years, n = 40), group 2 (>5 years but <18 years, n = 33), and group 3 (>18 years, n = 49). Preoperative and postoperative neurologic status were compared between groups and analyzed as a whole. RESULTS: The most common symptom was bladder dysfunction (82.0%), followed by constipation (76.2%). At the 3-month follow-up, improvement was noted in most patients presenting with pain (87.2%) and neuropathic ulcers (70.0%). Overall, neurologic status was improved in 73.0% of patients and stabilized in 19.7% of patients. A binary logistic regression model identified shorter preoperative duration (P = 0.013) and preoperative pain (P = 0.005) as independent predictors of postoperative improvement. Neurosurgical complications developed in 16 patients, and wound complications occurred in 2 patients. Two of 3 patients who had recurred symptoms underwent repeated detethering surgery during long-term follow-up. CONCLUSIONS: Despite longer preoperative duration than the pediatric population, adult patients with lumbosacral lipomas can still benefit from total/near-total resection especially regarding pain and foot ulcers, with low surgery-related morbidity. The long-term advantage of resecting additional lipoma in adults remains a point of discussion.

Ultra early recurrence in giant congenital malignant rhabdoid tumor of spine.

BACKGROUND: Malignant rhabdoid tumor (MRT) is an aggressive tumor of infancy and childhood that rarely presents as a primary spinal or spinal cord tumor. There are only three reported cases of spinal MRT in infants. OBJECTIVE: We present a similar case in a 3-month male child who developed ultra-early recurrence, 4 weeks after complete excision. The diagnosis was confirmed by immunohistochemistry showing inactivation of the INI1 gene. RESULT: Despite surgical excision and adjuvant chemoradiotherapy, these tumors have a progressive course and recurrence is a common phenomenon. CONCLUSION: We believe that MRT must be considered in the differential diagnosis of the intra/paraspinal masses, especially in the infants.

Congenital neuroblastoma presenting with paraplegia following spinal puncture in a neonate. Case report and review of the literature.

Neuroblastoma is the most common intraspinal solid tumor of childhood. Neurological deterioration due to an intratumoral hemorrhage following a spinal puncture is extremely rare. We report on the case of a 23-day-old neonate who was admitted to our institution for the onset of a paraplegia following a diagnostic lumbar puncture. The MRI showed an epidural tumor with massive intratumoral hemorrhage. Operatively and with histologic confirmation, the mass was determined to be a neuroblastoma. Following surgery, neurological function improved.

Spontaneous improvement in urological dysfunction in children with congenital spinal lipomas of the conus medullaris.

Congenital spinal lipomas of the conus (SLCs) are among the most common closed neural tube defects. The treatment of SLC is an area of controversy because the true natural history of this condition is unknown. Here, the authors present two cases of SLC presenting in infancy with compromised lower urinary tract function, which was objectively confirmed by abnormal urodynamic studies. In both cases, there was spontaneous improvement in urodynamic parameters, with stable normal urinary function at the long-term follow-up. Although cases of spontaneous radiological regression of SLC have very infrequently been reported, they have not been associated with the reversal of already present neurological deficits. This report reinforces the need for further delineation of the true natural history of SLC and highlights the dynamic nature of associated neurological compromise over time.

Congenital solitary infantile myofibromatosis involving the spinal cord.

Infantile myofibromatosis, a rare mesenchymal disorder that develops in early childhood, is classified by the number of lesions that occur: solitary or multicentric. Involvement of the CNS is unusual in either type. Infantile myofibromatosis in the spine is exceptional, and most published cases represent a secondary invasion. Here, the authors report on an 8-month-old girl presenting with weakness below the ankle and an intraspinal mass extending from T-6 to the conus. The patient underwent only partial surgical removal of the lesion, and the pathology was confirmed as infantile myofibromatosis. After the operation, weakness in the lower extremities gradually improved; however, she could not walk at the time of the final follow-up. On follow-up MRI performed 19 months after the operation, the residual lesion remained unchanged with decreased enhancement.

Diagnosis and management of brain and spinal cord tumors in the neonate.

Congenital central nervous system (CNS) tumors are rare, accounting for <5% of childhood CNS tumors. Although the definition remains arbitrary, 'congenital' is often defined as CNS tumors diagnosed at birth or within a few months after birth. Congenital CNS tumors are now increasingly detected on prenatal ultrasound, with polyhydramnios as the most frequent finding. After delivery, most congenital CNS tumors are associated with macrocrania and hydrocephalus. Teratomas are the most common congenital CNS tumors; other common tumors include astrocytomas, embryonal tumors such as medulloblastomas, and choroid plexus tumors. Choroid plexus tumors (predominantly papillomas) have the best outcome, as aggressive surgical resection can be curative. Other congenital CNS tumors have a collectively poor prognosis, although some subtypes may benefit from complete resections and chemotherapy. Given the rare incidences and diverse pathology of congenital CNS tumors, multicenter studies are required to accurately assess treatment efficacy and outcome measures.

Congenital intramedullary spinal cord tumours: a report of two cases.

We present two different cases of congenital intramedullary tumours, one of a patient in whom treatment was started without pathological confirmation of a malignant tumour and the other of a primitive neuroectodermal tumour. Magnetic resonance imaging is the most useful tool in the diagnosis of malignant intramedullary tumours and differentiation from other types of spinal cord lesions.

[Comparative analysis between multi-segments intramedullary spinal cord congenital tumors and benign ependymomas].

OBJECTIVE: To comparatively analyze the different and common points between multi-segments intramedullary spinal cord congenital tumors and benign ependymomas, such as the patient's age, gender, nervous functions and tumor location, longitudinal extension, and removed extent. METHODS: Data were studied from 12 patients with multi-segments intramedullary spinal cord congenital tumors and 19 patients with multi-segments intramedullary spinal cord benign ependymomas who underwent microsurgery for the tumor using a posterior approach. The tumor was exposed through dorsal myelotomy. Preoperative and postoperative nervous functions were scored using the Improved JOA (improved Japanese orthopaedic association, IJOA) score system. Independent sample t-test was performed for ages, preoperative IJOA scores, postoperative IJOA scores and IJOA difference values of the patients, and longitudinal extension of tumors in the two groups with congenital tumors and benign ependymomas. Two independent sample Mann-Whitney tests was performed for the patient's gender, stool and urine functions, limbs weakness, and tumor removed extent in the two groups. All patients were followed-up until June 30, 2009. RESULTS: The average age of patients in congenital tumors group was 23.5+/-14.3, and in benign ependymomas group was 37.8+/-12.9, the age difference between the two groups was statistically significant (t=-2.89, P=0.007). The difference for location (Z=-3.59, P=0.001) and removed extent (Z=-2.89, P=0.004) of tumors between the two groups was statistically significant. Those located at the conus accounted for almost 83.3% (10/12) multi-segments intramedullary spinal cord congenital tumors. Because of the stiff adhesion with adjacent neural structures or penetrative growth in surrounding spinal marrow, some congenital tumors could not totally removed by force. The main purpose of surgery for these tumors was not total removal but decompression on the adjacent neural structures. Total or nearly total resection was achieved in 66.7% (8/12) patients diagnosed with congenital tumors. 78.9 (15/19) percent of multi-segments intramedullary spinal cord benign ependymomas were located at the cervical and cervicothoracic segments. Total or nearly total resection was achieved in 94.7% (18/19) patients with benign ependymomas. CONCLUSION: It is known from the clinical files that most multi-segments intramedullary spinal cord congenital tumors are found in young patients and most benign ependymomas in the middle-aged. Most congenital tumors are located at the conus, and they are difficult to totally remove. Most benign ependymomas are located at the cervical and cervicothoracic segments, and they are easy to totally remove.

Congenital inclusion tumours in spinal dysraphism.

OBJECTIVE: To review the presentation, diagnosis and management of children with spinal dysraphism and CIT. METHODS: It is a retrospective review of 146 children of spina bifida over 9 years (2000-2008) and details the clinical course and outcome of seven with associated congenital inclusion tumors. RESULTS: 7/146 (4.7%) had spina bifida with CIT, 5 dermoid cysts and 2 mature teratoma. The diagnosis was missed by the primary physician even in the presence of a neurocutaneous marker. Spinal imaging with MRI was conclusive. All were managed with multilevel laminectomy, near total/total excision of the CIT and detethering of cord. Intramedullary involvement and established neurological deficits at presentation were associated with persistent deficits. CONCLUSION: Early detection and comprehensive management of CIT with spinal dysraphism ensures social fecourinary continence, preserves renal function, achieves ambulation and enables patients to lead an acceptable quality of life.

Congenital dermoid tumor in a child at initial myelomeningocele closure: an etiological discussion.

The authors report on a case of a full-term infant with lumbar myelomeningocele who was found to have an intramedullary mass at the time of surgical repair of the defect. The intramedullary mass was consistent with a dermoid tumor both macroscopically and microscopically. This case provides evidence that dermoid tumors occurring at the site of previous surgical myelomeningocele repair are not always a consequence of incomplete excision of the dermal elements.

Spinal hamartoma associated with spinal dysraphism.

OBJECTS: The aims of the study were (1) to review the pathological findings of spinal lipomatous masses associated with congenital spinal dysraphism and (2) to discuss the pathological diagnosis. METHODS: The pathological records of 47 patients at our institution were reviewed, and three illustrative cases were presented. CONCLUSION: Spinal tumorous lesions associated with spinal dysraphism have been traditionally described as lipoma since they are composed mostly of fatty tissue. However, they are different from lipomas arising in other part of the body in that they often contain various tissues of ecto- and mesodermal origin. In our study, we detected such heterotopic components in 24 out of 47 cases. Although they are also similar to teratoma, it is generally accepted that they are malformative lesions which lack neoplastic potential. We therefore should diagnose them as hamartoma rather than lipoma or teratoma.

Complete Currarino triad in all affected members of the same family.

Currarino triad is a rare hereditary disease. The complete form is characterized by the presence of an anorectal malformation, usually anorectal stenosis, a presacral mass and sacral bony defect. The main symptom is the presence of constipation since early life. In over 80 % of cases, the syndrome is diagnosed during the first decade of life. We report on three patients, members of the same family, with the complete form of the syndrome. The main symptom in our patients was intense constipation and the common clinical finding was an ectopic and stenotic anus. In two of them, father and son, the presacral masses were not diagnosed at the time of previous unsuccessful operations in another hospital for correction of the ectopic anus. In the third patient, Currarino syndrome was associated with Hirschsprung's disease. This has not been described previously. Two of the three patients who were admitted in our institution for simultaneous excision of the presacral mass and correction of the anorectal malformation through a posterior midsagittal coccygo-perineal approach, are free of symptoms. To the authors' knowledge, this is the second report of complete Currarino triad in all affected members of the same family.

[Intramedullary rupture of a dermoid cyst of the conus: a case report]. / Rupture intra-médullaire d'un kyste dermoïde du cône. A propos d'un cas.

The authors report the case of a 40 year old patient with history of cauda equina syndrome and pyramidal signs due to intramedullary rupture of a congenital dermoid cyst of the conus without associated spinal dysraphism. Diagnosis was suggested at magnetic resonance imaging (MRI) and confirmed by histological examination and percutaneous aspiration of the intramedullary cavity.

Jaw thrust can deteriorate upper airway patency.

Upper airway obstruction is a frequent problem in spontaneously breathing children undergoing anesthesia or sedation procedures. Failure to maintain a patent airway can rapidly result in severe hypoxemia, bradycardia, or asystole, as the oxygen demand of children is high and oxygen reserve is low. We present two children with cervical masses in whom upper airway obstruction exaggerated while the jaw thrust maneuver was applied during induction of anesthesia. This deterioration in airway patency was probably caused by medial displacement of the lateral tumorous tissues which narrowed the pharyngeal airway.

Pre- and post-operative hydromyelia in spinal dysraphism.

BACKGROUND AND PURPOSE: There has been limited description of hydromyelia after surgery for spinal dysraphism. The opportunity to compare pre- and post-operative hydromyelia in patients with spinal dysraphism has been possible in two groups of patients using MRI. Post-operative assessment and possible relationship of hydromyelia to clinical findings has been made during a 7- to 14-year period. METHODS: A total of 38 patients with congenital lumbar or sacral lipomas and 20 with diastematomyelia were studied pre-operatively with a 1.5-T MRI. Most patients in each group were examined with surveillance MRI (1.5 T) post-operatively. Clinical correlations were carried out with each examination. RESULTS: Of the 38 dorsal or terminal lipoma post-operative patients, hydromyelia increased in 3 and was a new finding in 4. One symptomatic patient in the latter group had extensive septated lumbar hydromyelia. In 8 of 20 diastematomyelia patients, pre-operative hydromyelia was unchanged post-operatively. Hemicord hydromyelia developed in 1. CONCLUSION: Hydromyelia of varying degree was found in almost one-third of post-operative dorsal or terminal lipoma patients and nearly one-half of diastematomyelia patients. In five post-operative lipoma and two diastematomyelia patients, significant neurological findings remained. One of the six post-operative lipomas had new extensive lumbar hydromyelia that may have been responsible for the patient's symptoms. In the remaining symptomatic patients, hydromyelia was absent or modest.

The "human tail": a rare cause of tethered cord: a case report.

STUDY DESIGN: Observational case report. OBJECTIVES: To report a case of dorsal cutaneous appendage or the so-called human tail that was the cause of tethered cord syndrome. SUMMARY OF BACKGROUND DATA: The dorsal cutaneous appendage, or so-called human tail, is often considered to be a cutaneous marker of underlying occult spinal dysraphism. In such cases, there is usually a separate underlying tethering lesion. There have been only three case reports in the literature where this appendage itself was the tethering lesion. The fourth such case is being reported. METHODS: An 11-month-old male child was brought for consultation for a "tail-like" structure in the low back since birth. Examination revealed a subtle thinning of the right lower extremity and a caudal appendage in the lower lumbar region. Plain radiographs revealed spina bifida at S1. MRI revealed a transitional lipoma at L5-S1 with a terminal syrinx. RESULTS: During surgery, a fibrous tract was seen extending from the base of the appendage through the defect in the bone and dura. The tract ended in the transitional lipoma of the cord at L5-S1. Sectioning of the tract and debulking of the transitional lipoma was done. After surgery, there was no change in the neurologic status of the patient. CONCLUSIONS: This case illustrates that the so-called "human tail" or the dorsal cutaneous appendage is not just a marker of underlying occult spinal dysraphism. In rare cases, the appendage itself can be the tethering lesion. In every case of dorsal cutaneous appendage, the surgeon should diligently search for the intraspinal extension of the lesion even if such an extension is not revealed by the MRI.

A case of bladder exstrophy and thoracal intramedullary teratoma.

Exstrophic bladder and intramedullary teratomas are rare congenital anomalies. To the authors' knowledge, the coexistence of these 2 anomalies has not been reported previously. The authors report on a newborn with thoracal intramedullary teratoma and exstrophic bladder. The possible embryogenetic background also is discussed.

Conservative management of asymptomatic spinal lipomas of the conus.

OBJECTIVE: The natural history of spinal lipomas of the conus (SLCs) has not been well studied. Because of disappointing long-term results with early surgical treatment of asymptomatic children with SLCs, we have followed a protocol of conservative management for these patients. The results are presented in this report. METHODS: Since 1994, all asymptomatic children with SLCs who were examined at Necker-Enfants Malades Hospital were subject to a protocol of conservative management. The records for those patients were reviewed, to determine the incidence and timing of neurological deterioration. The findings were compared with those for a previously reported historical cohort of asymptomatic patients who underwent early surgery at our institution. RESULTS: Fifty-three asymptomatic children (35 girls and 18 boys) with SLCs were monitored, with conservative management. During a mean follow-up period of 4.4 years (range, 12 mo to 9 yr), 13 patients (25%) exhibited neurological deterioration. At 9 years, the actuarial risks of deterioration, as determined with the Kaplan-Meier method, were 33% for the conservatively treated patients and 46% for the surgically treated patients. With a Cox proportional-hazards model, there was no significant difference in the risks of neurological deterioration for patients who were treated conservatively and those who underwent early surgery. CONCLUSION: The incidences and patterns of neurological deterioration seemed to be very similar, regardless of whether early surgery was performed. These results suggest that conservative treatment of asymptomatic patients is a reasonable option. A more definitive randomized study will be required to clarify the relative efficacy of early surgery for SLCs among asymptomatic patients.