Split spinal cord malformations in 4 Holstein Friesian calves.

BACKGROUND: The split spinal cord malformation (SSCM) is an uncommon congenital malformation of the vertebral canal in which parts of the spinal cord are longitudinally duplicated. In SSCM Type I, each spinal cord has its own dura tube. In the SSCM Type II, both parts of the spinal cord are surrounded by a common dura tube. CASES PRESENTATION: During the clinical examination one calf showed ambulatory paresis and 3 calves non-ambulatory paraparesis. Calf 4 additionally had a congenital tremor. The examination of calf 4 using magnetic resonance imaging (MRI) showed a median hydrosyringomyelia at the level of the 4th lumbar vertebra. The caudal part of this liquid-filled cavity was split longitudinally through a thin septum. From there, the spinal cord structures duplicated with an incomplete division, so that the transverse section of the spinal cord appeared peanut-shaped and in each half a central canal could be observed. The pathological-anatomical examination after euthanasia showed a duplication of the spinal cord in the area of the lumbar vertebral column in all calves. The histopathological examination revealed two central lumbar vertebral column channels. The two spinal cord duplicates were each surrounded by two separate meninges in calf 2 (SSCM type I); in the other calves (1, 3, 4, and) the two central canals and the spinal cord were covered by a common meninx (SSCM type II). A pedigree analysis of calves 2, 3 and 4 showed a degree of relationship suggestive of a hereditary component. This supports the hypothesis of a possible recessive inheritance due to common ancestors, leading to partial genetic homozygosity. CONCLUSIONS: The clinical appearance of SSCM can vary widely. In calves with congenital paralysis SSCM should always be considered as a differential diagnosis. A reliable diagnosis intra vitam is possible only with laborious imaging procedures such as MRI. Further studies on the heritability of this malformation are necessary to confirm a genetic cause of this disease.

Huge multiple spinal extradural meningeal cysts in infancy.

BACKGROUND: Multiple spinal extradural meningeal cysts (SEMCs) are rare lesions. SEMCs communicate with the subarachnoid space through multiple dural defects and expand into the extradural space with progressive spinal cord compression. CASE PRESENTATION: We report a 5-month-old boy with hydronephrosis involving nine huge SEMCs that were distributed from the T1-L5 levels. Eight SEMCs, except for one small noncommunicating cyst, were exposed through laminoplastic laminotomy at the T10-L5 and T3-5 levels. Five transdural communications with dural defects were packed with a piece of autologous muscle and fibrin glue. Tenting sutures to lift up the dura to the vertebral arch were added to minimize the extradural dead space. Postoperatively, cord compression was relieved and hydronephrosis improved. CONCLUSION: In conclusion, packing of all dural defects and dural tenting sutures at a one-staged operation is useful in the surgical management of huge and multiple SEMCs in infancy.

Cervicothoracic spine duplication: a 10-year follow up of a neurological intact boy.

PURPOSE: Spine duplication is a very rare condition with the literature being composed of only case reports. All previously reported cases were thoracolumbar spine duplications. Here, we report cervicothoracic spine duplication in a neurological intact male. According to our knowledge, it is the first case in the literature of cervicothoracic spine duplication. CLINICAL PRESENTATION: A 3-year-old patient presented to a primary physician with a complaint of short stature. He was referred to our department with suspected spinal deformity. Computerized tomography imaging revealed anterior bony structure duplication and posterior dysmorphic elements at the C5-T9 levels. Magnetic resonance imaging revealed a syrinx cavity which splits cord at the duplication level and the relation of the syrinx with posterior mediastinum through anterior bone defect. He was followed up for 10 years. CONCLUSION: In the literature, spine duplication has been classified as a severe form of split cord malformation because of the concurrence of bone duplication with split spinal cord malformation (SCM). This case presents a distinct form of SCM which shows non-duplicated dural tube as unclassified and cervicothoracic duplication level without neurological deficitis. Treatment of SCM was based on removal of splitting fibrous/osseous process. Neurologic intact spine duplication could be followed up without surgical intervention.

Congenital Zika Virus Infection Induces Severe Spinal Cord Injury.

We report 2 fatal cases of congenital Zika virus (ZIKV) infection. Brain anomalies, including atrophy of the cerebral cortex and brainstem, and cerebellar aplasia were observed. The spinal cord showed architectural distortion, severe neuronal loss, and microcalcifications. The ZIKV proteins and flavivirus-like particles were detected in cytoplasm of spinal neurons, and spinal cord samples were positive for ZIKV RNA.

Dural ectasia in a child with Larsen syndrome.

INTRODUCTION: We present a case of an incidental finding of dural ectasia in a child diagnosed with Larsen syndrome. Larsen syndrome is a rare inherited disorder of connective tissue characterized by facial dysmorphism, congenital joint dislocations of the hips, knees and elbows, and deformities of the hands and feet. Dural ectasia is as an abnormal expansion of the dural sac surrounding the spinal cord and may result in spinal morphologic changes, instability, and spontaneous dislocation. To the best of our knowledge, the presence of dural ectasia in Larsen syndrome has not previously been reported. CASE STUDY: A 6-year-old boy diagnosed with Larsen syndrome presented with an upper thoracic curve measuring 74 degrees, a right thoracic curve measuring 65 degrees, and significant cervicothoracic kyphosis with 50% anterior subluxation of C6 on C7 and C7 on T1. Advanced imaging studies showed dural ectasia (evidenced by spinal canal and dural sac expansion), thinning of pedicles and lamina, and C4 and C6 pars defects with cervical foramen enlargement. The patient received growing rod instrumentation (attached to cervical spine fixation) by a combined anterior/posterior surgical approach using intraoperative halo. Complications included intraoperative medial breach (fully resolved), wound dehiscence, 2 instances of bilateral broken rods, and a broken cervical rod. Following 7 lengthening procedures, the patient underwent definitive fusion. DISCUSSION: Surgeons should be aware of the potential for dural ectasia in patients with Larsen syndrome. Its presence will cause difficulties in the surgical intervention for spinal deformity. Multiple factors must be considered, and surgical approach and technique will require modification to avoid complications. Although dural ectasia confounds surgical intervention in these patients, surgery still appears to outweigh the risks associated with delayed intervention. The presence of dural ectasia should not preclude surgical decompression and stabilization. This report adds to the body of knowledge on the treatment of Larsen syndrome by demonstrating the potential existence of dural ectasia and highlights the importance of careful and thorough preoperative evaluation and diagnostic imaging.

Inherited myelopathies.

Inherited myelopathies are a small, but important subset of diseases that cause dysfunction of the spinal cord. Manifestations can include various combinations of signs and symptoms, including disturbance of gait, spasticity, paraplegia, amyotrophy, sensory loss, and urinary sphincter dysfunction. These diseases can be divided into classes that include (1) distal axonopathies-exemplified by hereditary spastic paraplegia, (2) motor neuron diseases including familial amyotrophic lateral sclerosis and spinal muscular atrophy, (3) inborn errors of metabolism such as adrenomyeloneuropathy, and (4) other inherited diseases with myelopathy as part of their spectrum of manifestations. Although the inherited myelopathies are relatively rare diseases, knowledge of them and their manifestations is important for the physician faced with a patient with myelopathy, particularly if there are similarly affected individuals in the patient's family. In addition, understanding the pathophysiologic underpinnings of these diseases provides insight into the molecular biology of the nervous system and provides a gateway toward developing treatments for these diseases.

The usefulness of lumbosacral magnetic resonance imaging in the management of isolated dysfunctional elimination.

PURPOSE: Magnetic resonance imaging is sometimes used to rule out spinal pathology in patients with dysfunctional elimination, although its usefulness in this setting is unclear. We determined the usefulness of magnetic resonance imaging in children with isolated dysfunctional elimination, and normal cutaneous, neurological and orthopedic examinations. MATERIALS AND METHODS: We reviewed the records of children with dysfunctional elimination who underwent lumbosacral magnetic resonance imaging and identified those who were neurologically normal and who had normal cutaneous back examinations. Our primary goal was to determine the rate at which magnetic resonance imaging identified a spinal abnormality in this population. Univariate analysis was performed to assess the association of several clinical variables with a radiographic abnormality on magnetic resonance imaging. RESULTS: Between 2000 and 2009 a total of 49 lumbosacral magnetic resonance imaging studies were performed in 29 females and 18 males with a mean age of 8.5 years (range 2.1 to 17). Four of the 49 imaging studies (8%) revealed a radiographic abnormality but in only 1 (2%) was clinically significant spinal pathology identified, that is filum lipoma causing cord tethering. Findings on the 3 remaining abnormal imaging studies were considered unrelated to bladder dysfunction. No clinical, demographic or videourodynamic findings were associated with a radiographic abnormality on magnetic resonance imaging. CONCLUSIONS: In children with isolated dysfunctional elimination complaints, and normal neurological, orthopedic and back examinations the diagnostic yield of lumbosacral magnetic resonance imaging is low but not zero. We suggest that spinal magnetic resonance imaging be used judiciously and as a test of last resort in these children.

A case of split notochord syndrome: an adult with a spinal endodermal cyst mimicking an intramedullary tumor.

Intraspinal endodermal cysts are very rare congenital cysts, usually composed of a thin-walled cyst the lining of which mimics gastrointestinal or respiratory epithelium. Diagnosis is usually established during the first or second decade of life. These cysts are frequently associated with vertebral or spinal cord abnormalies and dual malformation with mediastinal or abdominal cysts. Collectively, they are called split notochord syndrome. The authors describe their experience in the treatment of a 57-year-old man having an endodermal cyst mimicking an intramedullary tumor at the level of Th1-2. He was admitted to our institution for evaluation of an intraspinal mass diagnosed by MRI at a local hospital after experiencing temporary numbness and weakness of the lower left extremity. T1-weighted sagittal MRI demonstrated the lesion with signal intensity iso- to slightly hypointense to the spinal cord without enhancement after administration of gadolinium. Although T2-weighted sagittal images demonstrated as hyperintense to the spinal cord, axial images revealed a passage between the mass and subarachnoid space. We could not completely rule out the presence of an intramedullary tumor and undertook a laminectomy with a posterior approach. Histopathological analysis revealed an endodermal cyst and the authors found syringomyelia, which was clearly separated from the cyst in the preoperative sagittal MRI and intraoperative ultrasonography study. To the best of our knowledge, this is the first report in the English literature of a thoracic endodermal cyst requiring differential diagnosis from a spinal cord tumor.

Split medulla in association with multiple closed neural tube defects.

PURPOSE: We describe the case of a patient with a split medulla associated with multiple closed neural tube defects. CASE REPORT: This 13-year-old female initially presented to our service at just over a year of age for neck abnormalities and a congenital midline occipital dermal sinus. MRI and CT scans showed the presence of multiple cervical vertebral segmentation abnormalities, a bony spur at the level of the craniocervical junction, split medulla, split cervical spinal cord, and a midline occipital dermal sinus. Since the patient's neurological course had remained stable during follow-up for over 11 years, the only surgical procedure undertaken was excision of the dermal sinus to prevent infection. CONCLUSIONS: The constellation of abnormalities indicates that the notochord was split early during gestation, both rostral and caudal to the cervicomedullary junction. Surgical intervention to treat the other malformations needs to be considered only if the patient develops a progressive neurological deficit.

Perioperative Halo-Gravity Traction in the Treatment of Scoliosis with Intraspinal Anomalies.

OBJECTIVE: To investigate the efficacy and safety of preoperative halo-gravity traction and 1-stage posterior surgery for the treatment of scoliosis with intramedullary anomalies. METHODS: A total of 11 patients with scoliosis with intramedullary anomalies were evaluated. All patients were treated with preoperative halo-gravity traction and 1-stage posterior surgery. The average age was 11.4 years (range, 7-21 years). All patients were followed-up for at least 2 years (mean, 3.5 years; range, 2-5 years). Their radiologic presentations and complications were reviewed. RESULTS: The operating time was 7.9 hours, and the intraoperative bleeding amount was 1890 mL. Both the Cobb angle of scoliosis and kyphosis were significantly improved after halo-gravity traction and the operation (P < 0.05). Tethered cords were released, and intraspinal masses (neurofibromatosis and lipoma) were excised. Syringomyelia and split spinal cord malformations were left untreated. None of the patients experienced deterioration in their neurologic status after surgery. No severe complications, such as infection, cerebrospinal fluid leakage, failed internal fixation, or fractured pedicle screws or rods occurred after the operation. There was no deterioration of neurologic function, delayed infection, or pseudoarthrosis during the follow-up visits. CONCLUSIONS: Preoperative halo-gravity traction and 1-stage posterior surgery provided patients who had scoliosis and intramedullary anomalies an effective and safe treatment option with few complications.

Encephalomyelopathy and polyneuropathy associated with neuronal vacuolation in two Boxer littermates.

Neuronal vacuolation and spinocerebellar degeneration is a rare, presumably inherited condition that is reported only in Rottweilers and in crossbred dogs with known or potential Rottweiler heritage. Gross and histopathologic findings include laryngeal muscle atrophy, neuronal vacuolation, and a combined central and peripheral axonopathy. Two 6-month-old Boxer puppies from the same litter were referred for evaluation of progressive pelvic limb paresis and ataxia, upper airway stridor, and visual deficits. Examination of each dog suggested a combined myelopathy and peripheral neuropathy, as well as congenital ocular disease. Gross lesions were limited to atrophy of the intrinsic laryngeal muscles. Histopathologically, there was diffuse loss of axons and myelin in the dorsolateral and ventral funiculi throughout the spinal cord and extending into the caudal aspect of the brain stem. Vacuolation of scattered neuronal cell bodies was present in the spinal cord and selected brain stem nuclei. Multifocal axonal degeneration and demyelination was observed in the recurrent laryngeal nerve, sciatic nerve, and brachial plexus and was most severe in the recurrent laryngeal nerve. Ocular abnormalities included microphthalmia, cataracts, and retinal dysplasia. The findings in these Boxer dogs, unrelated to the Rottweiler breed, are analogous to the syndrome of neuronal vacuolation and spinocerebellar degeneration reported in Rottweilers.

Segmental hypoplasia of the spinal cord in a Japanese black calf.

Segmental hypoplasia not associated with vertebral abnormalities was found in a Japanese Black calf that was unable to stand. Constriction occurred between the third and 5th segments of the lumbar spinal cord, and was most severe in the 4th segment. Myelodysplasia, such as hydromyelia and syringomyelia, absence or interruption of the central canal, dysplasia of the gray matter, and absence or divergence of the septal connective tissue at the dorsal median septum or the ventral median fissure, were confirmed histologically. These changes indicate hypoplasia of the segments affected following neural tube closure. Therefore, this case was suspected to be a closed neural tube defect.

Rare Hereditary Klippel-Feil Syndrome and Arnold-Chiari Malformation Caused by Cervical Spondylotic Myelopathy.

BACKGROUND: A rare case of familial genetic disorder Klippel-Feil syndrome and Arnold-Chiari malformation caused by cervical spondylotic myelopathy was reported here. CASE DESCRIPTION: The reconstruction of stability and spinal cord decompression was achieved by anterior cervical discectomy, fusion, and internal fixation. CONCLUSIONS: Although the disease genetic characteristics have been studied, operation is necessary when it leads to abnormal neurologic symptoms and the surgery of surgery can have a beneficial outcome.

The Managment of cervical spine abnormalities in children with spondyloepiphyseal dysplasia congenita: Observational study.

Spondyloepiphyseal dysplasia congenita (SEDC) is an autosomal dominant disorder, characterized by disproportionate dwarfism with short spine, short neck associated with variable degrees of coxa vara. Cervical cord compression is the most hazardous skeletal deformity in patients with SEDC which requires special attention and management.Ten patients with the clinical and the radiographic phenotypes of spondyloepiphyseal dysplasia congenita have been recognized and the genotype was compatible with single base substitutions, deletions or duplication of part of the COL2A1 gene (6 patients out of ten have been sequenced). Cervical spine radiographs showed apparent atlantoaxial instability in correlation with odontoid hypoplasia or os-odontoideum.Instability of 8 mm or more and or the presence of symptoms of myelopathy were the main indications for surgery. Posterior cervical fusion from the occiput or C1-3, decompression of C1-2 and application of autorib transfer followed by halo vest immobilization have been applied accordingly.Orthopedic management of children with spondyloepiphyseal dysplasia congenita (SEDC) should begin with the cervical spine to avoid serious neurological deficits and or mortality.

Myelination of congenitally dysmyelinated spinal cord axons by adult neural precursor cells results in formation of nodes of Ranvier and improved axonal conduction.

Emerging evidence suggests that cell-based remyelination strategies may be a feasible therapeutic approach for CNS diseases characterized by myelin deficiency as a result of trauma, congenital anomalies, or diseases. Although experimental demyelination models targeted at the transient elimination of oligodendrocytes have suggested that transplantation-based remyelination can partially restore axonal molecular structure and function, it is not clear whether such therapeutic approaches can be used to achieve functional remyelination in models associated with long-term, irreversible myelin deficiency. In this study, we transplanted adult neural precursor cells (aNPCs) from the brain of adult transgenic mice into the spinal cords of adult Shiverer (shi/shi) mice, which lack compact CNS myelin. Six weeks after transplantation, the transplanted aNPCs expressed oligodendrocyte markers, including MBP, migrated extensively along the white matter tracts of the spinal cord, and formed compact myelin. Conventional and three-dimensional confocal and electron microscopy revealed axonal ensheathment, establishment of paranodal junctional complexes leading to de novo formation of nodes of Ranvier, and partial reconstruction of the juxtaparanodal and paranodal molecular regions of axons based on Kv1.2 and Caspr (contactin-associated protein) expression by the transplanted aNPCs. Electrophysiological recordings revealed improved axonal conduction along the transplanted segments of spinal cords. We conclude that myelination of congenitally dysmyelinated adult CNS axons by grafted aNPCs results in the formation of compact myelin, reconstruction of nodes of Ranvier, and enhanced axonal conduction. These data suggest the therapeutic potential of aNPCs to promote functionally significant myelination in CNS disorders characterized by longstanding myelin deficiency.

Intraspinal neurenteric cysts in children.

BACKGROUND: Neurenteric cysts are rare congenital epithelium-lined cysts of the central nervous system. They are found predominantly in the spinal cord, with lower incidence in the intracranial compartment, and may be associated with various other congenital spinal anomalies. Seven patients with symptomatic intraspinal neurenteric cysts are presented. MATERIALS AND METHODS: Seven patients with intraspinal neurenteric cysts aged from nine months to ten years treated at this hospital from May 2000 to July 2006 were reviewed. The clinical manifestations, imaging and surgical findings of patients were analyzed retrospectively. All patients underwent operation. One patient's cervical neurenteric cyst was resected using the lateral cervical approach, and the other six resections were performed with posterior approach. RESULTS: All seven patients presented with neurological involvement. One patient had an intramedullary cyst, while the other six cysts were situated ventrally. Three patients' cysts occurred in the cervical region, two in the cervicothoracic region, one in the thoracic region and one in the lumbar region. One patient had bony anomalies, and one had a lumbar posterior occult spinal dysraphism. Five patients' symptoms improved rapidly after surgery. CONCLUSIONS: Intraspinal neurenteric cysts in children are rare and most occur ventral to the spinal cord. Magnetic resonance imaging (MRI) is the most effective imaging modality. Earlier diagnosis and surgical resection of spinal neurenteric cysts improves prognosis.

Compound heterozygous RYR1 mutations in a preterm with arthrogryposis multiplex congenita and prenatal CNS bleeding.

RYR1 mutations, the most common cause of non-dystrophic neuromuscular disorders, are associated with the malignant hyperthermia susceptibility (MHS) trait as well as congenital myopathies with widely variable clinical and histopathological manifestations. Recently, bleeding anomalies have been reported in association with certain RYR1 mutations. Here we report a preterm infant born at 32 weeks gestation with arthrogryposis multiplex congenita due to compound heterozygous, previously MHS-associated RYR1 mutations, with additional signs of prenatal hemorrhage. The patient presented at birth with multiple joint contractures, scoliosis, severe thoracic rigidity and respiratory failure. He continued to depend on mechanical ventilation and tube feeding. Muscle histopathology showed a marked myopathic pattern with eccentric cores. Interestingly, the patient had additional unusual prenatal intraventricular hemorrhage, resulting in post-hemorrhagic hydrocephalus as well as epidural hemorrhage affecting the spinal cord. This report adds to the phenotypic variability associated with RYR1 mutations, and highlights possible bleeding complications in affected individuals.

Congenital cervical spinal cord lesions: pathogenesis, management, and outcome.

Three patients (2 boys) presented with nontraumatic congenital lesions of the spinal cord resulting in paralysis and contractures of their upper limbs from birth. Limited improvement occurred in all. Two survived. One patient required ventilation support after birth; his upper limbs had lower motor neuron flaccid paralysis, and his lower limbs evolved to pyramidal tract impairment. He died at 9 months of age with an intercurrent chest infection. The other 2 patients had lower motor neuron pathology in their upper limbs and normal lower limb function. One of these patients attained ambulation. All 3 patients retained normal higher mental function. Neuroimaging of the spinal cord from the most affected patient demonstrated atrophy of the cervical and high thoracic regions (C4-T3). Spinal neuroimaging results from the less affected patient were normal. Multidisciplinary management assisted these children to reach their full potential in a resource-poor setting. The etiology of focal pathology to the cervical region in these infants with congenital nontraumatic insults remains undefined, similar to the few cases in the literature. The diverse pathogeneses are hypothesized and the literature reviewed.

An unusual type of split cord malformation.

A 4-year-old girl with an unusual type of split cord malformation (SCM) is reported. She presented with a capillary hemangioma in the lumbosacral region. Computed tomography and magnetic resonance imaging studies of the whole spinal axis revealed SCM. There was a Type II SCM at the L1 level and a dorsal bony septum at the S2 level. The conus medullaris terminated at the upper end of the L2 vertebral body. There was no tethered cord syndrome. There is no reported case to date of SCM with this malformation. She did not undergo surgical treatment due to the absence of tethered cord syndrome. Her neurological examination was unremarkable and she is still being followed up without any neurological abnormalities.