New surgical paradigm for open neural tube defects.

INTRODUCTION: An open neural tube defect (ONTD) features an exposed, unclosed neural plate in the form of an expanded, flat, and frequently hefty neural placode. Traditional philosophy of ONTD repair aims at preserving function at any cost, which often means stuffing the entire thick and unwieldy but non-functional placode into a tight dural sac, increasing the likelihood of future tethering of the spinal cord. The same philosophy of attempting to save the whole perimetry of the placode also sometimes leads to inadvertent inclusion of parts of the squamous epithelial membrane surrounding the placode into the reconstructed product, only to form inclusion dermoid cyst causing further injury to the neural tissues. Lastly, defective closure of the caudal primary neural tube usually results in abolition of secondary and junctional neurulation, leaving a defective conus and sacral nerve roots, clinically presenting in most cases with neurogenic bladder and bowel dysfunction. Preserving this trapped but locally active sacral micturition center, isolated from suprasegmental inhibitory moderation, leads to a spastic, hyperactive, low compliance, and high-pressure bladder predisposing to upstream kidney damage, without benefits of normal bladder function. METHOD AND MATERIAL: We report the post-natal surgical treatment of 8 newborn infants with ONTD, in which we resected the non-functional portion of the neural placode identified as such by direct spinal cord/placode and nerve root stimulation, as well as by transcortical evoked motor responses to check for suprasegmental corticospinal connectivity. Any part of the placode without local function or upstream connections was resected, and the small caudal spinal cord stump closed with pia-to-pia microsutures. The patients were followed for pre- and post-operative neuro-urological status and with serial magnetic resonance imaging (MRI) at 3 weeks, 6 months, and 2 years post-repair. Follow-up period ranged from birth to 3 years (mean of 24 months). RESULTS: Of the 8 patients analyzed, 7 had a terminal and one a segmental ONTD. Pre-operative neurological level ranged from L4 to S2. Applying our new surgical paradigm, we found no neurological worsening post-operatively. All patients had a neurogenic bladder and bowel dysfunction but none had a high-pressure bladder on urodynamics studies. Early and late MRIs all showed a loose and capacious neural placode to dural sac relationship. None had an inclusion dermoid cyst. CONCLUSION: We propose a new paradigm for the surgical repair of open neural tube defects with intraoperative neuromonitoring and introduce a safe and reliable technique of placode debulking.

Unjoined primary and secondary neural tubes: junctional neural tube defect, a new form of spinal dysraphism caused by disturbance of junctional neurulation.

INTRODUCTION: Primary and secondary neurulation are the two known processes that form the central neuraxis of vertebrates. Human phenotypes of neural tube defects (NTDs) mostly fall into two corresponding categories consistent with the two types of developmental sequence: primary NTD features an open skin defect, an exposed, unclosed neural plate (hence an open neural tube defect, or ONTD), and an unformed or poorly formed secondary neural tube, and secondary NTD with no skin abnormality (hence a closed NTD) and a malformed conus caudal to a well-developed primary neural tube. METHODS AND RESULTS: We encountered three cases of a previously unrecorded form of spinal dysraphism in which the primary and secondary neural tubes are individually formed but are physically separated far apart and functionally disconnected from each other. One patient was operated on, in whom both the lumbosacral spinal cord from primary neurulation and the conus from secondary neurulation are each anatomically complete and endowed with functioning segmental motor roots tested by intraoperative triggered electromyography and direct spinal cord stimulation. The remarkable feature is that the two neural tubes are unjoined except by a functionally inert, probably non-neural band. CONCLUSION: The developmental error of this peculiar malformation probably occurs during the critical transition between the end of primary and the beginning of secondary neurulation, in a stage aptly called junctional neurulation. We describe the current knowledge concerning junctional neurulation and speculate on the embryogenesis of this new class of spinal dysraphism, which we call junctional neural tube defect.

Limited dorsal myeloschisis: a not-so-rare form of primary neurulation defect.

PURPOSE: Limited dorsal myeloschisis (LDM) is a distinctive form of spinal dysraphism characterized by two constant features: a focal "closed" midline skin defect and a fibroneural stalk that links the skin lesion to the underlying cord. The embryogenesis is hypothesized to be incomplete disjunction between cutaneous and neural ectoderms, thus preventing complete midline skin closure and allowing persistence of a physical link (fibroneural stalk) between the disjunction site and the dorsal neural tube. OBJECTIVE: We utilize the experience gained from the management of 63 patients with LDM to illustrate these features. METHODS: All patients were studied with MRI or CT myelogram, operated on, and followed for a mean of 9.4 years. RESULTS: There were 11 cervical, 16 thoracic, 8 thoracolumbar, and 28 lumbar lesions. Two main types of skin lesion were: saccular (26 patients; consisting of a skin base cerebrospinal fluid sac topped with squamous epithelial dome or a thin membranous sac) and nonsaccular (37 patients; with a flat or sunken squamous epithelial crater or pit). The internal structure of a saccular LDM could be a basal neural nodule, a stalk that inserts on the dome, or a segmental myelocystocoele. In nonsaccular LDMs, the fibroneural stalk has variable thickness and complexity. All fibroneural stalks contain glioneuronal tissues accompanied by variable quantities of nerves and mesodermal derivatives. In all LDMs, the fibroneural stalk was tethering the cord. Twenty-nine patients had neurological deficits. There was a positive correlation between neurological grade and age suggesting progression with chronicity. Treatment consisted of detaching the stalk from the cord. Most patients improved or remained stable. LDMs were associated with three other dysraphic malformations in more than coincidental frequencies: six LDMs were contiguous with dorsal lipomas, four LDMs shared the same tract or traveled in parallel with a dermal sinus tract, and seven LDMs were related to a split cord malformation. The embryogenetic implications of these associations are discussed. CONCLUSION: LDM is a distinctive clinicopathological entity and a tethering lesion with characteristic external and internal features. We propose a new classification incorporating both saccular and flat lesions.

Surgical treatment of complex spinal cord lipomas.

PURPOSE: This paper shows the long-term benefits of total/near-total resection of complex spinal cord lipomas and meticulous reconstruction of the neural placode, and specifically, its advantage over partial resection, and over non-surgical treatment for the subset of children with asymptomatic virgin lipomas. METHODS: The technique of total resection and placode reconstruction, together with technical nuances, are described in detail. We added 77 patients with complex lipomas to our original lipoma series published in 2009 and 2010, to a total of 315 patients who had had total or near-total resection and followed for a span of 20 years. Long-term outcome is measured by overall progression-free survival (PFS) with the Kaplan-Meier analysis, and by subgroup Cox proportional recurrence hazard analysis for the influence on outcome of 4 predictor variables of lipoma type, presence of symptoms, prior surgery, and post-operative cord-sac ratio. These results are compared to an age-matched, lesion-matched series of 116 patients who underwent partial lipoma resection over 11 years. The results for total resection is also compared to two large published series of asymptomatic lipomas followed without surgery over 9 to 10 years, to determine whether prophylactic total resection confers better long-term protection over conservative treatment for children with asymptomatic lipomas.. RESULTS: The PFS after total resection for all lipoma types and clinical subgroups is 88.1 % over 20 years versus 34.6 % for partial resection at 10.5 years (p < 0.0001). Culling only the asymptomatic patients with virgin (previously unoperated) lipomas, the PFS for prophylactic total resection for this subgroup rose to 98.8 % over 20 years, versus 67 % at 9 years for one group of non-surgical treatment and 60 % at 10 years for another group of conservative treatment. Our own as well as other published results of partial resection also compare poorly to non-surgical treatment for the subset of asymptomatic virgin lipomas. Multivariate subgroup analyses show that cord-sac ratio is the only independent variable that predicts outcome, with a 96.9 % PFS for ratio < 30 % (loosest sac), 86.2 % for ratio between 30 and 50 %, and 78.3 % for ratio > 50 % (tightest sac), and a threefold increase in recurrence hazard for high ratios (p = 0.0009). Pre-operative patient profiling using multiple correspondence analysis shows the ideal patient for total resection is a child less than 2 years old with a virgin asymptomatic lipoma, who, with a PFS of 99.2 %, is virtually cured by total resection. CONCLUSION: Total/near-total resection of complex lipomas and complete reconstruction of the neural placode achieves far better long-term protection against symptomatic recurrence than partial resection for all lesions; and for the subset of asymptomatic virgin lipomas, also better than non-surgical treatment. Partial resection in many cases produces worse outcome than conservative treatment for asymptomatic lesions.

Parallel angulated frontal bone slat cuts for treatment of metopic synostosis and other frontal skull deformities: the "cathedral dome procedure".

PURPOSE: This study aims to describe a new procedure for the treatment of metopic synostosis and other frontal skull deformities. METHOD: The procedure comprises a supraorbital bandeau widened with an interpositional graft and rounded laterally to eliminate the acute angle, and parallel angulated slat cuts in the frontal bones. Greenstick fracturing of the medial bases of these slats along a parasagittal hinge line causes fanning of the slats and expansion of the frontal flap both anteriorly and laterally making the forehead contour wider and more rounded. We performed this procedure on six infants (four with severe trigonocephaly from metopic synostosis, one with brachycephaly from bicoronal synostosis, and one with multiple suture synostosis and parietal flattening) for whom only the angulated slat cuts (without bandeau) were used. Each patient had preoperative three-dimensional computed tomography (3D-CT) and postoperative 3D-CT at 1 week, 3 months, and 12 months, to follow the result. RESULT: The cosmetic improvements are dramatic in eliminating the midfrontal keel, hypotelorism, frontal-lateral retrusion, and temporal hollowing seen in severe metopic synostosis. In coronal synostosis, the procedure corrects the brachycephaly and gives a balanced, well-rounded frontal contour. The end results of the fronto-orbital correction resemble the ribbed dome of a cathedral; hence, the moniker the "cathedral dome procedure". No patient needed a second procedure to fill in cranial defects or recorrect deficient areas. CONCLUSION: The parallel angulated frontal slat cuts technique (the "cathedral dome procedure") is a straightforward and easily mastered method that reliably produces excellent result for the correction of trigonocephaly and other frontal skull deformities.