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Croatian Medical Journal Aug 2001Osteogenesis imperfecta (OI), or brittle bone disease, is a heritable disorder characterized by increased bone fragility. Four different types of the disease are... (Review)
Review
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.
Topics: Animals; Child; Diphosphonates; Disease Models, Animal; Genetic Linkage; Genetic Therapy; Humans; Mice; Mutation; Osteogenesis Imperfecta; Platybasia; Polymorphism, Single-Stranded Conformational; Scoliosis
PubMed: 11471191
DOI: No ID Found -
Journal of the Royal Society of Medicine Mar 2001
Topics: Dementia; Humans; Osteitis Deformans; Platybasia; Terminology as Topic
PubMed: 11285808
DOI: 10.1177/014107680109400319 -
Journal of Neurology, Neurosurgery, and... Mar 1999To describe the clinical and neuroradiological features of basilar impression in patients with osteogenesis imperfecta type IV.
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.
Topics: Adolescent; Adult; Brain; Female; Humans; Male; Osteogenesis Imperfecta; Platybasia; Tomography, X-Ray Computed
PubMed: 10084535
DOI: 10.1136/jnnp.66.3.357 -
Neurologia Medico-chirurgica Jun 1998A 47-year-old male presented with abducens nerve palsy due to basilar impression associated with atlanto-occipital assimilation manifesting as slowly progressive...
A 47-year-old male presented with abducens nerve palsy due to basilar impression associated with atlanto-occipital assimilation manifesting as slowly progressive bilateral trigeminal neuralgia and diplopia in the right lateral gaze. X-ray and computed tomography of the skull confirmed the diagnosis of basilar impression and atlanto-occipital assimilation, and magnetic resonance imaging disclosed tightness of the posterior cranial fossa. Surgical suboccipital decompression resulted in gradual resolution of the patient's complaints, and no additional symptoms were recognized. Impairment of the sixth cranial nerve is a rare symptom compared to those of the fifth or the eighth cranial nerve in a patient with a craniocervical malformation. However, the present case shows the possibility of cranial nerve dysfunction due to tightness of the posterior cranial fossa, and suggests that surgical treatment for basilar impression with atlanto-occipital assimilation should be considered in patients with uncommon and unusual symptoms.
Topics: Abducens Nerve; Atlanto-Occipital Joint; Decompression, Surgical; Humans; Magnetic Resonance Imaging; Male; Middle Aged; Nerve Compression Syndromes; Ophthalmoplegia; Platybasia; Tomography, X-Ray Computed
PubMed: 9689821
DOI: 10.2176/nmc.38.363 -
Psychiatry and Clinical Neurosciences Apr 1998A 43-year-old woman presented with dull headache, left tinnitus and dizziness. Neurological examination revealed down-beat gaze nystagmus, left tinnitus, positive...
A 43-year-old woman presented with dull headache, left tinnitus and dizziness. Neurological examination revealed down-beat gaze nystagmus, left tinnitus, positive Romberg sign, poor standing on the left foot, poor tandem gait, left spastic gait and positive pathological reflexes in the bilateral upper and lower extremities. Plain X-ray of the skull and cervical vertebrae demonstrated basilar impression and atlantoaxial fusion. Magnetic resonance imaging of the brain and cervical spine showed cerebellar tonsil descent and syringomyelia located in the left side of the spine at the II-III vertebral level which communicated with the fourth ventricle. The patient was diagnosed as having cervical syringomyelia. Arnold-Chiari type I malformation and basilar impression. Preoperative polysomnography showed dysrhythmic breathing and bradypnea during sleep. Abnormal breathing improved after suboccipital decompression craniotomy and upper cervical laminectomy. It was suggested that dysrhythmic breathing was caused by a disorder of the medullary respiratory center. Herniation of the cerebellar tonsil and syringomyelia might have compressed the medulla.
Topics: Adult; Arnold-Chiari Malformation; Cerebellum; Cervical Vertebrae; Encephalocele; Female; Humans; Magnetic Resonance Imaging; Medulla Oblongata; Platybasia; Polysomnography; Sleep Apnea Syndromes; Syringomyelia
PubMed: 9628158
DOI: 10.1111/j.1440-1819.1998.tb01037.x -
The European Respiratory Journal Apr 1995We report a rare case of acute respiratory failure in a previously asymptomatic patient showing clinical signs of inferior cranial nerve palsy together with weakness and...
We report a rare case of acute respiratory failure in a previously asymptomatic patient showing clinical signs of inferior cranial nerve palsy together with weakness and muscular atrophy of the upper limbs. Magnetic resonance imaging revealed Arnold-Chiari malformation associated with platybasia, basilar impression, syringomyelia and Klippel-Feil syndrome. Episodes of apnoea required tracheostomy and recurred upon tentative closure of the tracheostome, but remitted upon decompression of the posterior fossa. This case involved both obstructive mechanisms and dysfunction of the respiratory centre. Patients with respiratory failure not explained by pulmonary pathology should be checked for underlying neurological disease.
Topics: Abnormalities, Multiple; Adult; Arnold-Chiari Malformation; Humans; Klippel-Feil Syndrome; Magnetic Resonance Imaging; Male; Respiratory Insufficiency; Syringomyelia
PubMed: 7664871
DOI: No ID Found -
Journal of Medical Genetics Feb 1993
Topics: Child; Humans; Hydrocephalus; Male; Osteolysis, Essential; Platybasia
PubMed: 8445627
DOI: 10.1136/jmg.30.2.175 -
Journal of Neurology, Neurosurgery, and... Dec 1992Syringobulbia is a term which has been clinically applied to brain stem symptoms or signs in patients with syringomyelia. Syringobulbia clefts are found on investigation...
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.
Topics: Adolescent; Adult; Brain Stem; Cerebrospinal Fluid Shunts; Child; Cranial Nerves; Female; Follow-Up Studies; Humans; Magnetic Resonance Imaging; Male; Middle Aged; Nerve Compression Syndromes; Neurologic Examination; Platybasia; Postoperative Complications; Syringomyelia
PubMed: 1479391
DOI: 10.1136/jnnp.55.12.1132 -
Journal of Neurology, Neurosurgery, and... Jul 1992Clinical features and evoked potential recordings were analysed in 32 patients with congenital atlantoaxial dislocation before and after surgery. Seven patients (group...
Clinical features and evoked potential recordings were analysed in 32 patients with congenital atlantoaxial dislocation before and after surgery. Seven patients (group 1) had atlantoaxial dislocation, while 22 patients had associated basilar invagination (group 2). In both groups, pyramidal tract signs, posterior column signs, wasting of the upper limbs, and abnormality of somatosensory evoked potentials (SSEP) were similar. Conversely, lower cranial nerve involvement and abnormal brainstem auditory evoked potentials (BAEP) were significantly more in patients with basilar invagination (p less than 0.05). All seven patients in group 1 and 17 patients in group 2 were operated upon. Clinical and electrophysiological deterioration were significant in patients with basilar invagination (group 2), following posterior fixation compared with group 1. Among the patients in group 2, who clinically deteriorated following posterior fixation, seven had transoral excision of odontoid and six of them improved both clinically and electrophysiologically. Two patients in group 2 had odontoid excision before posterior fixation, and in both the evoked potentials improved postoperatively. In group 1 the patient's BAEP remained unaffected following posterior fixation, however, in group 2, eight patients over 53% showed improvement in brainstem function following posterior fixation. This study shows the value of evoked potentials in congenital atlantoaxial dislocation, and rationalizes the surgical procedure in these patients. In patients with basilar invagination, odontoid excision is the preferred first stage procedure.
Topics: Atlanto-Axial Joint; Brain Stem; Electroencephalography; Evoked Potentials, Auditory, Brain Stem; Evoked Potentials, Somatosensory; Humans; Joint Dislocations; Magnetic Resonance Imaging; Platybasia; Postoperative Complications; Reaction Time; Signal Processing, Computer-Assisted; Somatosensory Cortex; Spinal Cord; Spinal Cord Compression; Spinal Fusion
PubMed: 1640240
DOI: 10.1136/jnnp.55.7.609 -
Neurologia Medico-chirurgica Nov 1991Anterior or posterior decompression of the foramen magnum was performed in three patients with syringomyelia associated with basilar impression and Chiari I...
Anterior or posterior decompression of the foramen magnum was performed in three patients with syringomyelia associated with basilar impression and Chiari I malformation. The operative results were evaluated using the pre- and postoperative magnetic resonance (MR) images. Two patients with combined anterior and posterior cervicomedullary compression due to basilar impression and tonsillar descent received suboccipital craniectomy, upper cervical laminectomy, and dural plasty without any intradural manipulations via the posterior approach. One patient with prominent anterior cervicomedullary compression due to basilar impression and a sharp clivoaxial angle was operated on by the transoral anterior approach. Postoperatively, all patients showed a sustained shrinkage of the syrinx and rounding of the flattened cerebellar tonsils. Two patients showed upward movement of the herniated tonsils. All patients had improved symptoms during 2-4 years follow-up. Treatment of syringomyelia associated with basilar impression and Chiari I malformation requires more efficient decompressive procedures at the foramen magnum based on neurological and MR findings.
Topics: Adult; Arnold-Chiari Malformation; Child; Female; Follow-Up Studies; Foramen Magnum; Humans; Magnetic Resonance Imaging; Male; Middle Aged; Platybasia; Syringomyelia
PubMed: 1723159
DOI: 10.2176/nmc.31.715