Dominantly inherited progressive pseudorheumatoid dysplasia with hypoplastic toes

Objective To present four related patients with progressive pseudorheumatoid dysplasia (PPsRD) each with distinctive history, unique phenotype and some peculiar radiographic findings.Results and conclusions The history was characterised by weather-dependent articular pain. The unique phenotypic features were hypoplasia/dysplasia of one or two toes. Peculiar radiographic findings were hypoplasia of the 3rd and 4th metatarsals, platyspondyly with rectangular shape of the lumbar spinal canal, progressive narrowing of the joint spaces and early synovial chondromatosis. Finally, the condition was inherited as a dominant trait. This constellation of abnormalities constitutes a distinct form of PPsRD. PPsRD must be differentiated from other bone dysplasias, specifically spondyloepiphyseal dysplasias, autosomal dominant spondylarthropathy, juvenile rheumatoid arthritis and osteoarthritis.     

Cervical canal stenosis caused by progressive fusion and enlargement of cervical vertebrae with features of Proteus syndrome and Klippel–Feil syndrome

We report the case of a female who presented with progressive fusion and an enlargement of the cervical vertebrae. Her cervical deformity gradually progressed with age, and the abnormal bony protrusion into the spinal canal caused myelopathy. We resected the affected vertebrae to decompress the spinal cord and performed combined anterior-posterior spinal fusion. The progression of the spinal deformity and enlargement of vertebrae stopped after surgery. The enlargement of vertebrae in the present case resembled that observed in Proteus syndrome; however, autonomous vertebral fusion has not been reported previously in patients with this condition. Our report may help expand the knowledge on developmental spine disorders.     

Computed tomography of a post traumatic spinal arachnoid cyst

Summary A case of post-traumatic arachnoid spinal cyst with haemorrhagic contents is presented. CT findings were indistinguishable from those of epidural or subdural haematomas. The use of CT myelography permits a more accurate diagnosis by localizing the lesion into one of the three spaces. In our case, bleeding into a preexisting arachnoid cyst was thought to occur, but we cannot exclude a newly formed cyst of traumatic origin.     

Cement Salvage of Instrumentation-Associated Vertebral Fractures

BACKGROUND AND PURPOSE:Spinal instrumentation plays a key role in the treatment of spinal instability in patients with metastatic tumors. Poor bone quality, radiation, and diffuse osseous tumor involvement present significant challenges to spinal stabilization with instrumentation and occasionally result in postinstrumentation compression fractures. Vertebral cement augmentation has been effective in the treatment of painful tumor-related compression fractures. Our objective was to describe cement augmentation options in the treatment of vertebral compression fractures associated with spinal instrumentation in patients with metastatic tumors.MATERIALS AND METHODS:Patients who underwent percutaneous vertebral cement augmentation in the treatment of instrumentation-associated vertebral compression fractures between 2005 and 2011 were included in the analysis. Only fractures that occurred within the construct or at an adjacent level were included. The change in Visual Analog Scale and need for further surgery were analyzed.RESULTS:Eleven patients met the inclusion criteria, with 8 tumors located in the thoracic spine and 3 tumors in the lumbar spine. The median time between instrumented surgery and vertebral augmentation was 5 months (1–48 months) and the median follow-up after cement augmentation was 24 months (4–59 months). A total of 22 vertebrae that were either within or immediately adjacent to the surgical instrumentation underwent vertebral augmentation. All patients reported a decrease in their pain scores (mean decrease: 6 Visual Analog Scale points; P < .003). One patient required reoperation after cement augmentation. None of the patients experienced vertebral cement augmentation–related complications.CONCLUSIONS:Vertebral cement augmentation represents a safe and effective treatment option in patients with recurrent or progressive back pain and instrumentation-associated vertebral compression fractures.

The role of surgery in the treatment of metastatic spinal tumors has been firmly established as an effective and safe method for spinal cord decompression and stabilization of the spine. The goals of surgery for spinal metastases remain palliative and include preservation or restoration of neurologic function and pain control. Tumor control is largely accomplished using radiation and chemotherapy. In patients with metastatic spinal tumors, spinal instrumentation is required in most cases to provide spinal stability after circumferential spinal cord decompression. Spinal fixation in this patient population can be quite challenging because of extensive osteoporosis and lytic tumor destruction. Furthermore, chest wall resection may be required, further destabilizing the spine and increasing the risk of fixation failure. Prior spine radiation results in increased risk of vertebral compression fractures.^1–3 Failure of fixation may require interruption or delay of systemic or radiation therapy, increasing the risk of local or systemic tumor progression. Vertebral compression fractures either within or adjacent to the surgical construct often result in either recurrent or progressive back pain.Percutaneous vertebral cement augmentation (ie, balloon kyphoplasty/vertebroplasty) has been established as a safe and effective method of quickly achieving pain control in osteoporotic and tumor-related compression fractures.^4,5 Cement has also been used to reinforce screws at the time of insertion.^6,7 However, little information exists regarding its use as a salvage technique for instrumented patients who develop recurrent back pain secondary to new vertebral compression fractures within or adjacent to their surgical construct. We report a series of patients in whom percutaneous vertebral cement augmentation was used as an initial treatment of symptomatic instrumentation or junctional fractures in place of open hardware revision.     

Intramedullary tuberculoma: A case report

Study designWe report a case of intra-medullary tuberculoma in a 22 year-old man with progressive paraparesis and sphincter dysfunction.ObjectivesTo present a case of intra-medullary tuberculosis and to describe the MRI's contribution to the diagnosis.Summary of background dataIntra-medullary spinal tuberculoma is a rare form of central nervous system tuberculosis.The subject and diagnosis methodsThe patient, a 22 year-old man, presented with an intra-medullary tuberculoma of the dorsal spinal cord diagnosed after 6 month history of progressive paraparesis and sphincter dysfunction. MRI visualized ring enhancement of the intra-medullary dorsal lesion.ResultsTotal resection of the intra-medullary mass was performed through a posterior myelotomy. Histological examination revealed a granulomatous necrosis with caseum. The patient was treated with four anti-tuberculosis drugs in association with corticotherapy. The paraparesis and sphincter dysfunction improved.ConclusionsIntra-medullary spinal tuberculoma is rare, but must be considered in the differential diagnosis of spinal cord compression.     

Diffuse arachnoid ossification and multiple arachnoid cysts presenting with progressive thoracic myelopathy

An ossified arachnoid membrane combined with cystic formation is rarely reported as a cause of spinal cord compression. We report the case of a 60-year-old man who presented with diffuse ossification of the arachnoid membrane (arachnoid ossification) and multiple cystic changes (arachnoid cyst) at the thoracic and lumbar spine. The lesions were surgically removed and progressive deterioration was prevented, although no marked improvement of neurological symptoms was attained.     

Posterior fossa ependymal cyst and atlantoaxial subluxation in a patient with Down syndrome: CT findings

A 61-year-old woman with Down syndrome presented with progressive deterioration of gait over 9 months. Cranial CT without and with intravenous administration of contrast material demonstrated a posterior fossa cyst. The cyst did not communicate with the fourth ventricle or subarachnoid spaces as proven by CT following a metrizamide ventriculogram. Surgical fenestration of the cyst into the fourth ventricle was done. In addition, a moderate atlantoaxial subluxation with 2 mm movement from extension to flexion was present, which was thought not to be clinically significant, but which might require a spinal fusion at a future time. Ependymal cells were found as a result of a biopsy of the cyst wall.     

Venous infarction of the spinal cord resulting from dural arteriovenous fistula: MR imaging findings

Three patients with spinal dural arteriovenous fistula presented with acute and/or progressive myelopathy. The thoracic cord was focally enlarged and poorly defined on MR images in two of the patients. One individual showed focal cord atrophy, and one demonstrated abnormal intrathecal vessels. In all patients MR studies revealed cord enhancement after IV administration of gadopentetate dimeglumine. The MR findings are believed to represent disruption of the blood-cord barrier associated with cord ischemia and/or infarction, which, in turn, is caused by venous stasis resulting from the fistula. The diagnosis in each case was confirmed by the combined results of myelography, spinal arteriography, and surgery. Surgical excision or embolization of the fistula produced a poor return of lost function but an arrest in the progression of paresis. One of the patients had constant severe back and leg pain postoperatively, and a follow-up MR study 5 months after surgery showed focal atrophy and persistent enhancement of the thoracic cord. The patient with preoperative focal cord atrophy had an MR examination 1 year prior to surgery, which revealed enhancement of the cord similar to that seen on the immediate preoperative MR study. This patient also had severe pain in the back and lower extremities preoperatively, which accompanied her progressive paraparesis. It is believed that long-standing enhancement of the spinal cord in patients with dural arteriovenous fistula probably results from chronic progressive venous ischemia, which may be irreversible and cause pain of a central type.     

Ruptured spinal dermoid cyst with disseminated intracranial fat droplets

Fat droplets in the cerebrospinal fluid (CSF) is a well-known complication of ruptured intracranial dermoid tumours. We report an unusual case of a ruptured spinal dermoid tumour. MR images showed a tethered spinal cord and an intramedullary fat-containing mass. Fat droplets were revealed in the ventricles and the cisternal spaces on brain CT and brain MR. In the English literature, a ruptured spinal dermoid tumour accompanying a tethered spinal cord is extremely rare.     

Thoracic Aortic Stent-Graft Placement for Safe Removal of a Malpositioned Pedicle Screw

We describe a case of percutaneous placement of a thoracic aortic stent-graft for safe removal of a malpositioned pedicle screw in a 52-year-old man. The patient had undergone posterior thoracic spinal instrumentation for pyogenic spondylitis and spinal deformity 8 months previously. Follow-up CT images showed a malpositioned pedicle screw which was abutting the thoracic aorta at the T5 level. After percutaneous stent-graft placement, the malpositioned pedicle screw was safely and successfully removed.     

Thoracic ventral dural defect: idiopathic spinal cord herniation

Thoracic ventral dural defect, and resultant idiopathic spinal cord herniation, is a rare but increasingly recognized cause of a chronic progressive thoracic myelopathy, particularly in middle-aged women. A neurosurgically confirmed case is presented, together with a review of the pathogenesis, clinical presentation, imaging features, treatment options and progress of this entity post-treatment.     

Scoliosis in Children: Surgical Management and Postoperative Radiographic Appearances

A component of the evaluation of scoliosis in children is radiography of the spine, initially in anteroposterior and lateral projections. In selected circumstances, additional imaging of the neural axis with magnetic resonance imaging is indicated to identify or exclude an associated spinal cord or neural canal abnormality. The initial management of scoliosis is almost always conservative, employing bracing or casting. When conservative methods fail to control curvature progression, spinal surgery is indicated. A variety of instrumentation devices have been developed in order to reduce and stabilize spinal curvatures. This article will dicuss and illustrate the more frequently used instrumentation devices as well as other selected aspects of spinal surgery.     

Spinale Gefäßmalformationen

The vascular malformations of the spine and spinal cord are rare diseases. Possible symptoms may consist in a transient neurological deficit, a progressive sensorimotor transverse lesion or an acute para- or tetraplegia. Damage to the spinal cord occurs by bleeding, space-occupying effects and venous congestion, rarely by steal effects. Classification of the true inborn malformations differentiates between arteriovenous malformations (AVMs), cavernomas and capillary teleangiectasias. The more frequent spinal dural arteriovenous fistula (SDAVF) of the elderly patient is a probably acquired lesion which is presented in a separate paper. Capillary teleangiectasias are mostly incidental findings but may cause differential diagnostic problems. Cavernomas are important causes of hemorrhage and may initially be obscured within the bleeding. MRI is the most relevant imaging procedure in the early diagnostic workup. In case of an AVM selective spinal angiography is required to define the type of the lesion and to decide about the appropriate therapy which may be endovascular-interventional, neurosurgical, combined or attentive.     

Case report 673

A case is presented of a telangiectatic osteogenic sarcoma involving the left third metatarsal of a 4-year-old male Great Dane dog. Radiographs revealed a diaphyseal, expanding, lytic lesion with minimal intralesional sclerosis and a sclerotic rim in the proximal portion. The lesion contained a large amount of blood. The biopsy specimens consisted of spaces which were outlined by fibrous osteoid or granulation tissue. There were islands of multinuclear giant cells and/or fibrous osteoid tissue. A diagnosis of aneurysmal bone cyst was made. The lesion was treated by curettage and insertion of cancellous bone graft but was progressive 10 weeks after treatment. The lesion was further curetted, and these biopsy specimens consisted of aneurysmally dilated spaces and areas of anaplastic sarcomatous cells with mitotic figures and osteoid production, characteristic of telangiectatic osteogenic sarcoma. The dog was euthanized as the owner requested; an autopsy was not performed.     

Gangliocytoma of the cervicothoracic spinal cord.

We present a case of an extensive cervicothoracic gangliocytoma in an asymptomatic 9-year-old boy with progressive scoliosis. MR findings were that of a moderately enhancing cervicothoracic intramedullary mass, which throughout most of its length could not be distinguished from the normal spinal cord.     

MR imaging of spinal pachymeningitis

We report a case with pathologic correlation that demonstrates the magnetic resonance imaging characteristics of spinal pachymeningitis. Contrast enhanced T1-weighted images clearly demonstrated the thickened contrast enhancing meninges in a patient with progressive radiculomyelopathy who had both clinical and imaging evidence of progression of disease.     

Paget's disease of bone presenting with multiple cranial nerve palsies: A case report

Paget''s disease of bone (PDB) is a progressive monostotic or polyostotic osteopathy with unknown cause. It is associated with the involvement of the nervous system. The cranial nerves, spinal roots, cauda equina, spinal cord, and brain can be affected in PDB due to their close anatomical relation to bone. Hearing loss occurs in 12%-50% of patients with PDB. The optic nerve can be affected at the optic canal. The diagnosis of PDB is radiological by highlighting characteristic lesions like thickening of the cortical bone, hypertrophic and fibrillary bones. Progressive or chronic neurological deficits should be treated with bisphosphonates. We present a rare case of multiple cranial nerve palsies as the first manifestation of PDB.     

MRI findings of intramedullary spinal cryptococcoma

Cryptococcus neoformans is a yeast that most commonly infects the central nervous system. Meningitis and meningoencephalitis are the most common presentations of cryptococcosis. Cryptococcoma, however, is a rare entity characterized by localized, solid, tumor-like masses that are usually found in the cerebral hemispheres or cerebellum, but are extremely rare in the spinal cord. We report a case of an immunocompetent patient with intramedullary cryptococcoma in the spinal cord, which presented as a spinal tumor. Diagnosis was made by histological examination of the surgical specimen.     

Transdural spinal cord herniation: imaging and clinical spectra.

PURPOSETransdural herniation of the spinal cord is a rarely reported clinical entity, and many of the existing reports were published before the advent of MR imaging. We describe five current cases and compare them with findings in 25 cases reported in the literature to delineate the clinical and imaging spectra of transdural spinal cord herniation.METHODSMR imaging, CT myelography, and conventional myelography were performed in five patients with transdural herniation of the spinal cord. These studies, along with clinical findings, are described. Intraoperative photographs are included for one case. The salient features of both the current and previously reported cases are summarized in tabular form.RESULTSIn three cases, transdural spinal cord herniation occurred posttraumatically, in one case the cause was iatrogenic and in the others the herniation occurred spontaneously. Imaging features not previously reported include dorsally directed herniations at thoracolumbar levels (two patients), apparent (lacking surgical confirmation) syringomeyelia (one case), a vertebral body nuclear trail sign (one case), and intramedullary hyperintensities on MR images (two cases). Clinical features not previously reported include unilateral pyramidal-sensory deficits (one case) and isolated unilateral pyramidal signs (one case). Clinical findings similar to previous reports include progressive paraparesis (two cases) and progressive Brown-Séquard syndrome (one case).CONCLUSIONOur five cases illustrate certain clinical and imaging findings not previously reported, and, together with the established features of the 25 cases in the literature, delineate the spectra of transdural spinal cord herniation.