The mechanisms controlling axon guidance are of fundamental importance in understanding brain development. Growing corticospinal and somatosensory axons cross the midline in the medulla to reach their targets and thus form the basis of contralateral motor control and sensory input. The motor and sensory projections appeared uncrossed in patients with horizontal gaze palsy with progressive scoliosis (HGPPS). In patients affected with HGPPS, we identified mutations in the ROBO3 gene, which shares homology with roundabout genes important in axon guidance in developing Drosophila , zebrafish, and mouse. Like its murine homolog Rig1/Robo3, but unlike other Robo proteins, ROBO3 is required for hindbrain axon midline crossing.

Motor, sensory, and integrative activities of the brain are coordinated by a series of midline-bridging neuronal commissures whose development is tightly regulated. Here we report a novel human syndrome in which these commissures are widely disrupted, causing clinical manifestations of horizontal gaze palsy, scoliosis, and intellectual disability. Affected individuals were found to possess biallelic loss-of-function mutations in the axon guidance receptor Deleted in Colorectal Carcinoma (DCC), a gene previously implicated in congenital mirror movements when mutated in the heterozygous state, but whose biallelic loss-of-function human phenotype has not been reported. Structural MRI and diffusion tractography demonstrated broad disorganization of white matter tracts throughout the human CNS including loss of all commissural tracts at multiple levels of the neuraxis. Combined with data from animal models, these findings show that DCC is a master regulator of midline crossing and development of white matter projections throughout the human CNS.

The objective of this study was to improve upon leg somatosensory-evoked potential (SEP) monitoring that halves paraplegia risk but can be slow, miss or falsely imply motor injury and omits arm and decussation assessment. We applied four-limb transcranial muscle motor-evoked potential (MEP) and optimized peripheral/cortical SEP monitoring with decussation assessment in 206 thoracolumbar spine surgeries under propofol/opioid anesthesia. SEPs were optimized to minimal averaging time that determined feedback intervals between MEP/SEP sets. Generalized changes defined systemic alterations. Focal decrements (MEP disappearance and/or clear SEP reduction) defined neural compromise and prompted intervention. They were transient (quickly resolved) or protracted (>40 min). Arm and leg MEP/SEP monitorability was 100% and 98/97% (due to neurological pathology). Decussation assessment disclosed sensorimotor non-decussation requiring ipsilateral monitoring in six scoliosis surgeries (2.9%). Feedback intervals were 1-3 min. Systemic changes never produced injury regardless of degree. They were gradual, commonly included MEP/SEP fade and sometimes required large stimulus increments to maintain MEPs or produced >50% SEP reductions. Focal decrements were abrupt; their positive predictive value for injury was 100% when protracted and 13% when transient. Six transient arm decrements predicted one temporary radial nerve injury; five suggested arm neural injury prevention (2.4%). There were 15 leg decrements: six MEP-only, four MEP before SEP, three simultaneous and two SEP-only. Five were protracted, predicting four temporary cord injuries (three motor, one Brown-Sequard) and one temporary radiculopathy. Ten were transient, predicting one temporary sensory cord injury; nine suggested cord injury prevention (4.4%). Two radiculopathies and one temporary delayed paraparesis were unpredicted. The methods are reliable, provide technical/systemic control, adapt to non-decussation and improve spinal cord and arm neural protection. SEP optimization speeds feedback and MEPs should further reduce paraplegia risk. Radiculopathy and delayed paraparesis can evade prediction.

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Background Pericapsular acetabuloplasty procedures have been widely used as an integral component of combined surgery to treat developmental hip dislocation after walking age. The stability of the acetabuloplasty and the maintenance of the acetabular correction will depend on the structural integrity of the iliac crest autograft, which, traditionally, has been inserted as the interposition material. Problems related to the use of an autograft have been encountered by various surgeons—including the authors—namely, graft displacement and resorption, which may necessitate internal fixation or result in revision surgery. To overcome autograft failure, the use of an allograft as the interposition material has been introduced by some surgeons. This study describes the radiologic results of 147 hips treated for developmental hip dislocation by means of a standard protocol of open hip reduction and pericapsular acetabuloplasty with a contoured iliac crest allograft as the interposition material. Methods This retrospective study reviewed the radiographs of 147 hips presenting with late developmental dislocation which were treated by open reduction and a concomitant pericapsular acetabuloplasty using a contoured iliac crest allograft as the interposition material. The minimum follow up period was 2 years. Measurement of the acetabular index (AI) was the main variable. The efficacy of the interposed iliac crest allograft as the main stabiliser of the acetabuloplasty was reflected by the maintenance of the corrected AI during the follow up period. Loss of acetabular correction, graft extrusion or resorption, the need for osteotomy internal fixation, delayed or non union, infection, hip redislocation and avascular necrosis (AVN) as possible complications were documented. Results The treatment protocol of a combined open reduction of the hip and pericapsular acetabuloplasty, inserting a contoured iliac crest allograft as the interposition material, resulted in concentrically reduced and stable hips in 96.6% of our cases. The redislocation rate was 3.4%. All of the allografts were completely incorporated at 6 months post-surgery with no graft-related infections. In only two hips was the acetabular correction not maintained. None of the osteotomies required internal fixation for stability, even in older children. Conclusion We believe that a contoured iliac crest allograft as the pericapsular acetabuloplasty interposition material renders excellent osteotomy stability that eliminates the need for internal fixation and—in the short-term—maintains the correction of the acetabulum achieved intra-operatively.