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AJNR. American Journal of Neuroradiology Sep 2003Schwartz-Jampel syndrome is a rare, inherited disorder characterized by myotonia, skeletal deformities, facial dysmorphism, and growth retardation. In this report of an...
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.
Topics: Adolescent; Arnold-Chiari Malformation; Brain; Cervical Vertebrae; Diagnosis, Differential; Humans; Image Processing, Computer-Assisted; Magnetic Resonance Imaging; Male; Mastoid; Medulla Oblongata; Occipital Bone; Osteochondrodysplasias; Platybasia; Pons; Spinal Stenosis; Tomography, X-Ray Computed; Zygoma
PubMed: 13679294
DOI: No ID Found -
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 -
Arquivos de Neuro-psiquiatria Sep 2014A retrospective case-control study based on craniometrical evaluation was performed to evaluate the incidence of basilar invagination (BI). Patients with symptomatic...
A retrospective case-control study based on craniometrical evaluation was performed to evaluate the incidence of basilar invagination (BI). Patients with symptomatic tonsillar herniation treated surgically had craniometrical parameters evaluated based on CT scan reconstructions before surgery. BI was diagnosed when the tip of the odontoid trespassed the Chamberlain's line in three different thresholds found in the literature: 2, 5 or 6.6 mm. In the surgical group (SU), the mean distance of the tip of the odontoid process above the Chamberlain's line was 12 mm versus 1.2 mm in the control (CO) group (p<0.0001). The number of patients with BI according to the threshold used (2, 5 or 6.6 mm) in the SU group was respectively 19 (95%), 16 (80%) and 15 (75%) and in the CO group it was 15 (37%), 4 (10%) and 2 (5%).
Topics: Adolescent; Adult; Aged; Aged, 80 and over; Case-Control Studies; Cephalometry; Encephalocele; Female; Humans; Male; Middle Aged; Occipital Bone; Odontoid Process; Platybasia; Reference Values; Retrospective Studies; Skull Base; Tomography, X-Ray Computed; Young Adult
PubMed: 25252235
DOI: 10.1590/0004-282x20140113 -
European Spine Journal : Official... Mar 2010A 27-year-old woman presented with bilateral weakness of her all extremities for 5 years. She had a spastic gait and was unable to ambulate without assistance....
A 27-year-old woman presented with bilateral weakness of her all extremities for 5 years. She had a spastic gait and was unable to ambulate without assistance. Neurologic examination revealed increased deep tendon reflexes and positive pathologic reflexes. Radiographs showed occipitalization of the atlas, C2-C3 congenital fusion and fixed atlantoaxial dislocation with an atlanto-dental interval of 10 mm. MRI demonstrated cervicomedullary junction (CMJ) compression from the odontoid, a Chiari type I malformation, and syringomyelia extending from the foramen magnum to C5. The patient underwent transoral atlantoaxial release followed by posterior internal fixation from the occiput to the axis, which resulted in a significant improvement in motor function in all extremities. Post-operative images showed anatomical reduction of the atlantoaxial joint. However, an MRI performed 8 days following surgery showed a new retro-odontoid pannus had developed that was compressing the spinal cord at CMJ. A follow-up CT scan performed at 6 months post-operatively demonstrated a solid bony fusion between the occiput and C2, while an MRI at that time showed complete resolution of the retro-odontoid soft tissue mass with correction of the Chiari I malformation, and resolution of the syringomyelia. Final follow-up at 2-years revealed an excellent clinical outcome.
Topics: Adult; Arnold-Chiari Malformation; Atlanto-Axial Joint; Decompression, Surgical; Diagnosis, Differential; Female; Fracture Fixation, Internal; Gait; Humans; Joint Dislocations; Magnetic Resonance Imaging; Muscle Weakness; Platybasia; Recovery of Function; Spinal Fusion; Syringomyelia; Treatment Outcome
PubMed: 19941013
DOI: 10.1007/s00586-009-1208-1 -
Arquivos de Neuro-psiquiatria Oct 2011The prime objective in the surgical treatment of basilar impression (BI), Chiari malformation (CM) and/or syringomyelia (SM) is based on the restoration of the normal...
The prime objective in the surgical treatment of basilar impression (BI), Chiari malformation (CM) and/or syringomyelia (SM) is based on the restoration of the normal cerebrospinal fluid (CSF) dynamics at the craniovertebral junction through the creation of a large artificial cisterna magna. A small suboccipital craniectomy has been emphasized to avoid caudal migration of the hindbrain structures into the vertebral canal. Nevertheless, the results showed downward migration of the hindbrain related to that type of craniectomy. The authors present, otherwise, the results of 104 cases of BI, CM and/or SM, whose surgical treatment was characterized by a large craniectomy with the patient in the sitting position, tonsillectomy, large opening of the fourth ventricle and duraplasty with creation of a large artificial cisterna magna. A significant upward migration of the posterior fossa structures was detected by postoperative magnetic resonance imaging.
Topics: Adolescent; Adult; Aged; Arnold-Chiari Malformation; Craniotomy; Decompression, Surgical; Female; Follow-Up Studies; Humans; Magnetic Resonance Imaging; Male; Middle Aged; Platybasia; Retrospective Studies; Syringomyelia; Tonsillectomy; Treatment Outcome; Young Adult
PubMed: 22042188
DOI: 10.1590/s0004-282x2011000600018 -
Surgical Neurology International 2020Atlanto-occipital dislocation (AOD) is a rare, highly morbid, and highly lethal injury that results from high-energy trauma and almost universally requires operative...
Successful non-operative management for atlanto-occipital dislocation resulting in spinal cord contusion in a patient with atlanto-occipital assimilation and severe Chiari I malformation.
BACKGROUND
Atlanto-occipital dislocation (AOD) is a rare, highly morbid, and highly lethal injury that results from high-energy trauma and almost universally requires operative management for satisfactory outcomes. It can be difficult to identify the severity of injury at the time of presentation, and when diagnosis is delayed outcomes worsen significantly. Anatomic anomalies of the craniovertebral junction may further complicate its detection. When such anomalies are present either singly or in combination, they are known to cause space constraints which may increase the likelihood of spinal cord injury. Given that such anomalies and AOD are rare, few examples of patients with both are reported in the literature. Furthermore, it is not clear in what way patient management may be impacted in this context.
CASE DESCRIPTION
We will present a unique case of an 18-year-old patient with traumatic AOD and an intact neurologic examination who was found to have atlanto-occipital assimilation (AOA), platybasia, basilar invagination, and severe Chiari I malformation, who was treated effectively with non-operative management.
CONCLUSION
Our case demonstrates the successful application of a non-operative treatment strategy in a carefully selected patient with AOD in the context of AOA.
PubMed: 33194272
DOI: 10.25259/SNI_419_2020 -
Revista de NeurologiaSchwartz Jampel syndrome is a usually recessive disorder that presents myotonia, skeletal (bone dysplasia) and facial (blepharophimosis) anomalies and low height, which...
INTRODUCTION
Schwartz Jampel syndrome is a usually recessive disorder that presents myotonia, skeletal (bone dysplasia) and facial (blepharophimosis) anomalies and low height, which is diagnosed in childhood. We report on the clinical, electromyographical and radiological findings of two siblings affected by the disease and who were diagnosed late, in adulthood.
CASE REPORTS
Two siblings, a male aged 39 and a female of 49, the only members of a family of five siblings born to consanguineous parents to be affected, were studied because of deformities in the joints that appeared at the age of nine months and alterations in their gait. Both had a syndromic facies with hypertelorism, micrognathia, blepharospasm, thin mouth, saddle nose and low height. The sister presented lumbar hyperlordosis, dislocation of the kneecaps, clubfeet, fists with radial deviation, bilateral dislocation of the head of the radius and limited pronosupination and flexure tension of the elbow. Deep reflexes were diminished. The male had deformities in both knees and in the right elbow, and was unable to perform pronosupination of the arm or bend the knee. A coxofemoral X ray revealed an epiphysial dysplasia. The magnetoencephalogram showed continuous muscular activity with complex repetitive discharges in the sister s orbicularis oculi and biceps. The brother had a bilateral entrapment of the ulnar nerve in the ulnar canal with a secondary axonal compromise. Magnetic resonance imaging of the encephalon of the patient showed cortical atrophy, hyperintense focal areas in the periventricular white matter and platybasia.
CONCLUSIONS
In the adult, myotonic chondrodystrophia evolves with decreased blepharospasm, the presence of structured deformities and entrapments of peripheral nerves.
Topics: Adult; Electromyography; Female; Humans; Lumbosacral Region; Male; Middle Aged; Muscle, Skeletal; Osteochondrodysplasias; Radiography
PubMed: 12221624
DOI: No ID Found -
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 -
Cureus Mar 2024A Chiari I malformation is a frequently encountered anomaly of the posterior fossa, occurring in a notable percentage of the population. It often coexists with various...
Revealing an Uncommon Presentation of Chiari I Malformation With Diverse Craniovertebral Anomalies in the Absence of Syringomyelia and Atlanto-Occipital Subluxation: A Case Report.
A Chiari I malformation is a frequently encountered anomaly of the posterior fossa, occurring in a notable percentage of the population. It often coexists with various other craniovertebral junction abnormalities, albeit less frequently with Klippel-Feil syndrome. Interestingly, the majority of individuals with Chiari I malformation do not exhibit any symptoms. We present a rare case of a 25-year-old male with chronic neck and occipital pain, along with progressive weakness and sensory disturbances in all four limbs, urinary urgency, and elevated left shoulder. Examination unveiled spasticity, weakness, and brisk reflexes. On extensive radiological evaluation (X-ray, CT, and MRI), findings revealed various anomalies in the craniovertebral junction, including complete atlanto-occipital assimilation, basilar invagination, and platybasia. Furthermore, cervical segmentation abnormalities indicative of Klippel-Feil syndrome were observed, along with Sprengel's deformity. MRI confirmed Chiari I malformation with tonsillar herniation and myelomalacia, as well as compression at the cervico-medullary junction. This patient underwent a surgical procedure that included transoral odontoidectomy combined with occipito-cervical fixation, after which a good clinical response was observed. It emphasizes the necessity of radiological imaging for the diagnosis of Chiari and other associated abnormalities in the craniovertebral junction.
PubMed: 38559543
DOI: 10.7759/cureus.55332 -
Journal of Neurology, Neurosurgery, and... Dec 1968
Topics: Abnormalities, Multiple; Adolescent; Adult; Black or African American; Arnold-Chiari Malformation; Black People; Brazil; Child; Diagnosis, Differential; Female; Humans; Male; Middle Aged; Neurologic Manifestations; Platybasia; Radiography; White People
PubMed: 5709845
DOI: 10.1136/jnnp.31.6.596