Basilar impression complicating osteogenesis imperfecta type IV: the clinical and neuroradiological findings in four cases.
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OBJECTIVES: To describe the clinical and neuroradiological features of basilar impression in patients with osteogenesis imperfecta type IV. METHODS: Four patients with basilar impression were ascertained in a population study of osteogenesis imperfecta. All four had detailed clinical and neuroradiological examination with both CT and MRI of the craniocervical junction and posterior fossa structures. RESULTS: All four showed significant compression of the posterior fossa structures and surgical decompression was performed with relief of symptoms. CONCLUSION: Symptoms of cough headache and trigeminal neuralgia occurring in patients with osteogenesis imperfecta are indications for detailed clinical and neuroradiological investigation to document basilar impression. (+info)
Osteogenesis imperfecta at the beginning of bone and joint decade.
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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. (+info)
Disturbances of sexual potency in patients with basilar impression and Arnold-Chiari malformation.
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Sexual impotence is common in patients with basilar impression and/or Arnold-Chiari malformation. There is no evidence of hypogonadism and testicular biopsy is usually normal. An autonomic disturbance is postulated. (+info)
Basilar impression, Chiari malformation and syringomyelia: a retrospective study of 53 surgically treated patients.
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The present study shows the results of 53 patients who have been treated surgically for basilar impression (BI), Chiari malformation (CM), and syringomyelia (SM). The patients were divided into two groups. Group I (24 patients) underwent osteodural decompression with large inferior occipital craniectomy, laminectomy from C 1 to C 3, dural opening in Y format, dissection of arachnoid adhesion between the cerebellar tonsils, medulla oblongata and spinal cord, large opening of the fourth ventricle and dural grafting with the use of bovine pericardium. Group II patients (29 patients) underwent osteodural-neural decompression with the same procedures described above plus dissection of the arachnoid adherences of the vessels of the region of the cerebellar tonsils, and tonsillectomy (amputation) in 10 cases, and as for the remainning 19 cases, intrapial aspiration of the cerebellar tonsils was performed. The residual pial sac was sutured to the dura in craniolateral position. After completion of the suture of the dural grafting, a thread was run through the graft at the level of the created cisterna magna and fixed to the cervical aponeurosis so as to move the dural graft on a posterior- caudal direction, avoiding, in this way, its adherence to the cerebellum. (+info)
Craniocervical CT and MR imaging of Schwartz-Jampel syndrome.
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Schwartz-Jampel syndrome is a rare, inherited disorder characterized by myotonia, skeletal deformities, facial dysmorphism, and growth retardation. In this report of an adolescent male patient with Schwartz-Jampel syndrome, CT and MR imaging revealed basilar invagination, platybasia, Chiari I malformation, hyperpneumatized mastoids with intramastoid dural sinuses, platyspondyly, bulbous zygoma, and blunted pterygoid processes. (+info)
Syringobulbia: a surgical appraisal.
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Syringobulbia is a term which has been clinically applied to brain stem symptoms or signs in patients with syringomyelia. Syringobulbia clefts are found on investigation or at necropsy caused by cutting outwards of the CSF under pressure from the fourth ventricle into the medulla. These should be differentiated from the ascending syringobulbia which may occur from upward impulsive fluid movements in a previously established syringomyelia. Clinical analysis of 54 patients suggests that bulbar features are most often found with neither of the above mechanisms but are due to the effects of pressure differences acting downward upon the hind-brain with consequent distortion of the cerebellum and brainstem, traction on cranial nerves or indentation of the brain-stem by vascular loops. The commonest symptoms in the 54 patients were headache (35), vertigo (27), dysphonia or dysarthria (21), trigeminal paraesthesiae (27), dysphagia (24), diplopia (16), tinnitus (11), palatal palsy (11) and hypoglossal involvement (11). Careful attention to hydrocephalus is advisable before craniovertebral surgery, but the decompression of the hindbrain and the correction of craniospinal pressure dissociation remains the mainstay of surgical treatment. The results of careful surgery are good, 45 of the 54 cases reported improvement. Most of the reported deterioration occurred in a few patients who did conspicuously badly. (+info)
Surgical management of high cervical disc prolapse associated with basilar invagination--two case reports.
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C3-4 cervical disc prolapse was associated with basilar invagination and short neck in a 21-year-old man and additionally with an extensive Klippel-Feil abnormality and fusion of multiple cervical vertebrae in a 32-year-old man. The transoral surgical route was adopted for cervical discectomy in the latter case and an additional odontoidectomy in the former case. Interbody plate and screw fixation was carried out in the patient with Klippel-Feil abnormality. Both the patients were relieved of symptoms and remained asymptomatic at follow up. Simultaneous fixation procedure is not mandatory after transoral surgery in patients with basilar invagination. (+info)
Results of the treatment of syringomyelia associated with Chiari malformation: analysis of 60 cases.
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We analyze the results of surgical treatment of 60 patients presenting syringomyelia (SM) associated with Chiari malformation (CM) who were operated in the period 1982-2000. For each case, analysis covered 15 signs and 16 symptoms included in a protocol that separated SM signs and symptoms from those of CM. A score system was established in parallel with the protocol to make the evaluation of treatment results easier. All cases were submitted to craniovertebral decompression by C1 and eventually C2 laminectomy and cerebellar tonsillectomy with duramater graft. To evaluate the results, statistical proportion difference tests and variance analyses were made to a reliability index of 95% (p=0.05). We conclude that the statistical improvement of CM signs and symptoms was very significant (p=0). Syringomyelia signs and symptoms also improved significantly, except for "upper limb hyporeflexia", which did not improve. No statistical difference in the improvement of SM symptoms as compared to CM symptom was found. Syringomyelia signs improved statistically more than CM signs. In half of patients, the percent improvement of signs and symptoms ranged between 40% and 60%. (+info)