The effect of posterior fossa decompression in adult Chiari malformation and basilar invagination: a systematic review and meta-analysis.

Chiari malformation (CM) and basilar invagination (BI) are mesodermal malformations with disproportion between the content and volume of posterior fossa capacity and overcrowding of neural structures at the level of foramen magnum. Several alternatives for posterior approaches are available, including extradural (ED), extra-arachnoidal, and intradural (ID) approaches. The objectives are to evaluate the effect of several surgical techniques for posterior fossa decompression (PFD) in the outcomes of patients with CCJM and to evaluate complications in the techniques reported. A systematic review of the literature on the effects of PFD surgery was performed using the MEDLINE (via PubMed) database and the Cochrane Central Register of Controlled Trials. The PRISMA statement and MOOSE recommendations were followed. Five hundred and thirty-nine (539) articles were initially selected by publication title. After abstract analysis, 70 articles were selected for full-text analysis, and 43 were excluded. Ultimately, 27 studies were evaluated. The success rate (SR) with ED techniques was 0.76 versus 0.81 in EA technique and 0.83 in IA technique. All posterior fossa decompression techniques were very successful. Results from observational studies were similar to that of the randomized trial. The main complications were CSF fistulas, most common in patients with IA approach. The overall mortality rate was 1%.

Extreme proximal junctional kyphosis-a complication of delayed lambdoid suture closure in Hajdu-Cheney syndrome: a case report and literature review.

PURPOSE: To describe the manifestations, surgical treatment, and potential complications of Hajdu-Cheney syndrome (HCS), and the management of these complications. METHODS: The clinical presentation, management and outcome of HCS with severe osteoporosis and open skull sutures is presented, together with a literature review. RESULTS: A 20-year-old female with HCS underwent posterior occipitocervical fusion for symptoms of progressive basilar invagination. Because of delayed lambdoid suture closure, the stiff fusion construct lead to increased suture distraction, most notably in the upright (suture-open) position, with relief in the supine (suture-closed) position. This was successfully remedied with extension of the fusion construct anteriorly over the skull vertex to the frontal bones. CONCLUSIONS: In patients with HCS and other conditions with delayed suture closure, the surgeon must be cognizant of the presence of mobility at the suture lines, and consider extending the fusion construct anteriorly over the skull vertex up to the frontal bones. Because of significant osteoporosis in these syndromes, multiple fixation points and augmentation with bone graft are important principles.

Hajdu-Cheney Syndrome, a Disease Associated with NOTCH2 Mutations.

Notch plays an important function in skeletal homeostasis, osteoblastogenesis, and osteoclastogenesis. Hajdu-Cheney syndrome (HCS) is a rare disease associated with mutations in NOTCH2 leading to the translation of a truncated NOTCH2 stable protein. As a consequence, a gain-of-NOTCH2 function is manifested. HCS is inherited as an autosomal dominant disease although sporadic cases exist. HCS is characterized by craniofacial developmental defects, including platybasia and wormian bones, osteoporosis with fractures, and acro-osteolysis. Subjects may suffer severe neurological complications, and HCS presents with cardiovascular defects and polycystic kidneys. An experimental mouse model harboring a HCSNotch2 mutation exhibits osteopenia secondary to enhanced bone resorption suggesting this as a possible mechanism for the skeletal disease. If the same mechanisms were operational in humans, anti-resorptive therapy could correct the bone loss, but not necessarily the acro-osteolysis. In conclusion, HCS is a devastating disease associated with a gain-of-NOTCH2 function resulting in diverse clinical manifestations.

Giant intradiploic pseudomeningocele of occipital bone.

The management of intradiploic CSF collection is controversial. Although it is a benign lesion, even then delay in diagnosis and treatment may lead to significant morbidity. The authors report a very rare case of giant posttraumatic intradiploic pseudomeningocele involving the occipital bone, occipital condyles, and clivus. The pathogenesis and management of intradiploic CSF collection are discussed. This 16-year-old boy presented with a history of enlarging swelling in the suboccipital region associated with headache, lower cranial nerve palsy, and features of high cervical compressive myelopathy. Investigations revealed a giant intradiploic lesion involving the occipital bone, condyles, and clivus associated with secondary basilar invagination, hydrocephalus, and syringomyelia. Intrathecal contrast administration did not reveal communication of intradiploic space with the subarachnoid space. A large occipital craniotomy was performed. A linear fracture and dural defect in the midline was identified, which was closed with fascial graft after removing the inner table of the skull. Cranioplasty was performed using the expanded calvarial bone. Ventriculoperitoneal shunt insertion was performed for hydrocephalus, and the patient improved remarkably. Posttraumatic intradiploic CSF collection, although a benign condition, may present with severe complications if treatment is delayed. Early diagnosis and treatment is essential. The authors suggest that this condition should be treated early, as for growing skull fractures.

Endoscopic transnasal decompression for management of basilar invagination in osteogenesis imperfecta.

Osteogenesis imperfecta (OI) is a disorder of bone development caused by a genetic dysfunction of collagen synthesis. Basilar invagination (BI) is an uncommon but serious complication of OI. Brainstem decompression in OI is undertaken in certain circumstances. Transoral-transpalatopharyngeal ventral decompression with posterior occipitocervical fusion has become the treatment of choice when required. This technical note outlines a novel endoscopic transnasal approach for ventral decompression. The literature is reviewed and a strategy for the management of BI in patients with OI is outlined.

Specific entities affecting the craniocervical region: osteogenesis imperfecta and related osteochondrodysplasias: medical and surgical management of basilar impression.

INTRODUCTION: Osteogenesis imperfecta (OI) is an inheritable disorder of bone development caused by defective collagen synthesis. The attendant basilar impression or secondary basilar invagination is uncommon but can be devastating. CLINICAL MATERIALS AND METHODS: Fifty-two patients with osteochondrodysplasia (28 with OI, six with Hajdu-Cheney syndrome, six with Paget's disease, and 12 with spondyloepiphyseal dysplasia) with basilar impression were evaluated between 1985 and 2005. The male/female ratio in this cohort was 1:1. The mean age at presentation was 12.2 years. SYMPTOMS: Symptoms and signs included headache, lower cranial nerve dysfunction, dysphagia, respiratory embarrassment, weakness, and ataxia. TREATMENT: In the earlier part of the series (1985-1995), all patients with hydrocephalus were shunted and a ventral transoral decompression made for ventral compression of the pontomedullary junction followed by a dorsal occipitocervical fusion. As a result of this evaluation, it was felt that most patients would benefit by early bracing after the hydrocephalus was shunted if it existed. However, 20% of patients still required an anterior ventral decompression and the occipitocervical fusion. RESULTS: The results showed that the fusions were stable but over a period of time, there was progressive forward bending with osteogenesis imperfecta as well as with the Hajdu-Cheney syndrome. All patients with spondyloepiphyseal dysplasia had a good strong stable fusion which stood the test of time. CONCLUSION: In conclusion, we feel that early intervention with occipitocervical bracing can prevent the progressive march of significant basilar impression which leads to mortality.

Basilar impression and osteogenesis imperfecta: a 21-year retrospective review of outcomes in 20 patients.

OBJECT: Basilar impression (BI) secondary to osteogenesis imperfecta (OI) is a rare but debilitating condition that is often progressive unless it is halted. More recently, ventral decompression surgery has been advocated for this condition. This study is a retrospective review of the 21-year experience of ventral decompression surgery and dorsal occipitocervical fixation in patients with BI secondary to OI and is the largest patient series reported to date. METHODS: Twenty patients treated between 1982 and 2003 by the senior author at the authors' institution were included in this study. All patients underwent ventral decompression surgery followed by dorsal craniocervical stabilization. Patients were followed up for a median of 10 years. RESULTS: There were no intraoperative or perioperative deaths. Postoperatively, 16 of 20 (80%) patients showed objective improvement or maintained their good preoperative level of function. After surgery, of the 15 patients admitted with Karnofsky Performance Scale (KPS) scores of 70% or less, 11 improved, two remained unchanged, one patient's condition deteriorated, and one patient died of an unrelated cause. Of five patients admitted with a KPS score of 80% or greater, no patient's condition deteriorated in the short- and midterm period, but one patient had recurrence 15 years after surgery. At the end of follow-up, 25% of the patients had recurrence of brainstem compression symptoms or had died, and 15% showed no improvement after surgery. All of the remaining patients (60%) had sustained a long-term benefit from surgery. CONCLUSIONS: Aggressive ventral decompression surgery and dorsal stabilization for patients with BI secondary to OI can not only halt disease progression but can also produce a good and sustainable long-term functional outcome, even in those patients who present as severely symptomatic. Patients who presented early with minor symptoms had good long-term outcomes.

Basilar invagination: craniocervical instability treated with cervical traction and occipitocervical fixation. Case report.

The upward odontoid displacement observed in basilar invagination (BI) is generally associated with a horizontal clivus and craniocervical kyphosis, conditions that exert ventral compression at the spinomedullary junction. Ventral brainstem decompression by reduction or elimination of the odontoid invagination is part of the desired treatment. The authors describe a case of BI in an adult, who was effectively treated with the easy and safe reduction of odontoid invagination via cervical traction. Normalization of kyphosis at the craniovertebral junction and the vertical position of both a previously horizontal clivus and the cerebellar tentorium demonstrated that these conditions were not part of the original malformation but instead were caused by a reducible craniovertebral instability.

Congenital anomalies of the cervical spine.

There are numerous congenital anomalies of the cervical spine. They can be simple and clinically inconsequential to complex with serious neurologic and structural implications. They can occur in isolation or as one of several maldeveloped organs in the patients. Many are discovered incidentally. The more common anomalies seen by pediatric spine surgeons include defects of the anterior or posterior arches of C1, occipital assimilation of the atlas, basilar invagination or impression, os odontoideum, and Klippel-Feil syndrome. Management begins with a detailed history, physical examination, and imaging studies. In general, those lesions that are causing or have caused neurologic injury, chronic pain, or spinal deformity or place the patient at high risk for developing these require treatment.

Endoscopic transoral surgery for craniovertebral junction anomalies. Technical note.

Craniovertebral junction (CVJ) anomalies continue to be challenging for neurosurgeons because of the complex anatomy of this region. To date, microsurgical decompression via a transoral route is the standard treatment for anteriorly located compressive lesions of the cervicomedullary junction (CMJ). The results obtained by minimizing surgical trauma are fewer complications, shorter hospital stays, and reduced overall psychological burden. Endoscopic surgery is becoming a leading modality in minimally invasive neurosurgical treatment. The authors performed surgery in 11 patients with irreducible osseous dislocations resulting from CVJ abnormality during a 2-year period. Anterior CMJ decompression was achieved in all patients by performing neuroendoscopically controlled transoral excision of bone and soft tissues. The surgical technique and results will be discussed. The use of the endoscope offers several advantages in cases requiring a transoral approach to the lower clivus and atlantoaxial region. The use of minimally invasive endoscopic techniques has the potential to reduce the need for a wider cranial base opening and to decrease postoperative complications.

Basilar impression in osteogenesis imperfecta: can it be treated with halo traction and posterior fusion?

Basilar impression (BI) and hydrocephalus complicating osteogenesis imperfecta (OI) is usually treated by anterior transoral decompression and posterior fixation. Nevertheless, it may be questioned if posterior fusion following axial halo traction is adequate in patients with symptomatic BI complicating OI. We report on a case with progressive symptomatic hydrocephalus and BI complicating OI that was successfully treated by halo traction followed by posterior occipitocervical fusion. However, after a symptom free interval of 2 years the patient suffered from recurrence of symptomatic hydrocephalus needing additional ventriculoperitoneal (VP) shunt placement. In conclusion, posterior fusion without additional VP shunt placement may not be effective in the long term for ameliorating symptoms and signs and halting progressive hydrocephalus in BI complicating OI.

[Paget's disease as a cause for symptomatic basilar impression--a case report and review of the literature].

INTRODUCTION: We report a case of a 52-years old women with Paget's disease. A secondary symptomatic basilar impression was observed, causing quadriparesis, bulbar palsy and ataxia CLINICAL PRESENTATION: We report a case of a 52-year old woman with history of/periodic headache. In the last 6 months the complaints became more intensive and continuous. Additionally quadriparesis, disphagia, hoarsness and gait instability occurred. A cranial form of Paget's disease was found and a secondary basilar impression with compression of the cerebellum and brain stem was proven. A median suboccipital decompression and C1 laminectomy were performed. The occipital bone was thick, porous, with lacunas full of blood, causing unusually intensive hemorrhage. The postoperative period was uneventful with resolution of the preoperative symptomatology. CONCLUSION: In cases with Paget's disease a secondary basilary impression with ensuing cerebellar and brain stem compression may be observed. Decompressive suboccipital craniectomy may be a therapeutic option. The surgical team should be prepared for an excessive hemorrhage from the porous occipital bone.

Spontaneous regression of syringomyelia in Hajdu-Cheney syndrome with severe platybasia. Case report.

Hadju-Cheney syndrome (HCS) is a rare autosomal-dominant disorder with variable expressivity. It is characterized by facial dysmorphism, premature tooth loss, osteolysis of distal phalanges, and skull abnormalities. In some cases, progressive platybasia can occur and can lead to Chiari malformation with an obstruction of cerebrospinal fluid flow. To the best of the authors' knowledge, only five cases of HCS-associated syringomyelia have been reported in the literature. Because of the rarity of this association, little is known about its natural history. The authors present the case of a 16-year-old boy affected by HCS. On initial magnetic resonance (MR) imaging, a severe basilar invagination with Chiari malformation and cervicothoracic syringomyelia was documented. The syringomyelia had no clinical manifestations. A repeated MR image demonstrated a spontaneous resolution of the syrinx with no changes in the tonsil or the platybasia. The regression of the syringomyelia was confirmed by a control MR imaging examination performed after a 2-year period. No changes in the patient's clinical conditions were found during the follow-up period. This is the first case of spontaneous regression of the syringomyelia despite a severe platybasia in HCS. It did not appear correlated to a modification of the tonsil's structure or position. This observation illustrates one possible evolution of syringomyelia in the natural history of HCS and raises the question of the potential mechanisms involved in the spontaneous drainage of the syringomyelic cavity.

Treatment of basilar invagination by atlantoaxial joint distraction and direct lateral mass fixation.

OBJECT: The author discusses the successful preliminary experience of treating selected cases of basilar invagination by performing atlantoaxial joint distraction, reduction of the basilar invagination, and direct lateral mass atlantoaxial plate/screw fixation. METHODS: Twenty-two patients with basilar invagination-in which the odontoid process invaginated into the foramen magnum and the tip of the odontoid process was above the Chamberlain, McRae foramen magnum, and Wackenheim clival lines-were selected to undergo surgery. In all patients fixed atlantoaxial dislocations were documented. The 16 male and six female patients ranged in age from 8 to 50 years. A history of trauma prior to the onset of symptoms was documented in 17 patients. Following surgery, the author observed minimal-to-significant reduction of basilar invagination and alteration in other craniospinal parameters resulting in restoration of alignment of the tip of the odontoid process and the clivus and the entire craniovertebral junction in all patients. In addition to neurological and radiological improvement, preoperative symptoms of torticollis resolved significantly in all patients. The minimum follow-up period was 12 months and the mean was 28 months. CONCLUSIONS: Joint distraction and firm lateral mass fixation in selected cases of basilar invagination is a reasonable surgical treatment for reducing the basilar invagination, restoring craniospinal alignment, and establishing fixation of the atlantoaxial joint.

Combined anterior and posterior approach for managing basilar invagination associated with type I Chiari malformation.

Ventral brainstem compression is common in patients with basilar invagination associated with type I Chiari malformation. The aim of this study was to investigate the reliability of a combined one-session anterior-posterior surgical approach for these patients. Nine patients underwent transoral odontoidectomy, posterior foramen magnum decompression, occipitocervical fixation, and bone grafting. All but two patients had ventral and dorsal operations in one surgical sitting. One of these two individuals had previously undergone posterior decompressive surgery at another hospital, but his condition had deteriorated rapidly afterward. The mean follow-up time was 19 months (range, 14-30 months). There was no mortality and no significant morbidity in this series. All but one of the patients showed significant improvement in their symptoms. Chiari malformations have a surprisingly high association with basilar invagination, and patients may have symptoms in both conditions. If there is a marked anterior compression, anterior transoral and posterior decompression, fusion, and instrumentation is an optimal strategy for treating patients with basilar invagination associated with type I Chiari malformation.

Osteogenesis imperfecta at the beginning of bone and joint decade.

Osteogenesis imperfecta (OI), or brittle bone disease, is a heritable disorder characterized by increased bone fragility. Four different types of the disease are commonly distinguished, ranging from a mild condition (type I) to a lethal one (type II). Types III and IV are the severe forms surviving the neonatal period. In most cases, there is a reduction in the production of normal type I collagen or the synthesis of abnormal collagen as a result of mutations in the type I collagen genes. These classic forms of OI are described in this review. There are instances, however, where alterations in bone matrix components, other than type I collagen, are the basic abnormalities of the OI. Recently, three such discrete types have been identified by histomorphometric evaluation (types V and VI) and linkage analysis (Rhizomelic OI). They provide evidence for the as yet poorly understood complexity of the phenotype-genotype correlation in OI. We also discuss bisphosphonates treatment as well as fracture management and surgical correction of deformities observed in the patients with OI. However, ultimately, strengthening bone in OI will involve steps to correct the underlying genetic mutations that are responsible for this disorder. Thus, we also describe different genetic therapeutic approaches that have been tested either on OI cells or on available OI murine models.