Fibrous dysplasia of the cervical spine presenting as a pathological fracture.

Fibrous dysplasia (FD) is an uncommon benign fibro-osseous abnormality of bone, of unknown aetiology and equal sex incidence, which is most commonly restricted to one bone (monostotic FD: MFD, 70%). Less commonly multiple bones are affected (polyostotic FD: PFD, 27%). Vertebral involvement is uncommon (4%), but more common with PFD (7 - 24%) than MFD (1%). Of 20 cases of FD involving the cervical spine, only three have represented MFD. Unlike cases associated with PFD, all cases presented with acute neck pain without significant neurological impairment after minor trauma. We present the case of a 35-year-old male with MFD who developed a pathological fracture of C3 following minor trauma. Radiographs showed collapse and typical 'ground glass' lucency of C3. CT revealed replacement of C3 cancellous bone by hypodense tissue extending into the right lateral mass. The cortex was thinned and fractured, and encroached upon the right foramen transversarium and spinal canal. Magnetic resonance imaging demonstrated hypo-intensity on both T1 and T2, with uniform contrast enhancement. Subtotal excision was achieved via an anterior C3 corpectomy, with residual FD left within the right lateral mass. Stability was achieved utilizing an iliac crest strut autograft, C2-4 plate-and-screws, and mobilization in a halo frame for 3 months. At 18 months, he remained asymptomatic and without deficit. Radiography, CT and MRI confirmed graft fusion without FD invasion, but with residual right lateral mass FD unchanged in size.

Posterior circulation stroke in childhood: risk factors and recurrence.

OBJECTIVE: To ascertain whether posterior circulation stroke in children has distinctive clinical or radiologic features. METHODS: Patients were identified retrospectively from two pediatric neurology centers. Clinical details were ascertained by chart review, and radiologic data were reviewed by three neuroradiologists. RESULTS: Twenty-two cases were identified (17 boys). Twenty children had evidence of vertebrobasilar arterial abnormalities, which were multifocal in 12. The etiology of these was vertebral artery dissection in 10 cases and unclear in the remaining 10. Cardiac abnormalities were rare (n = 4). Other risk factors for stroke in childhood were hypertension (n = 9), the thermolabile methylene tetrahydrofolate reductase gene mutation (n = 4), and the factor V Leiden mutation (n = 2). Two children had subluxation of the upper cervical spine at the extreme of normal limits. In follow-up for 6 months to 11 years (median 4 years), five patients had further strokes and seven had TIA. Overall, 12 patients had no residual neurologic deficits. CONCLUSIONS: The male preponderance, frequency of arterial dissection, rarity of cardiac embolism, and >20% recurrence were notable. Cerebral angiography is usually indicated if a definitive diagnosis is not made on MRI. Additional investigations should include echocardiography and cervical spine radiography in flexion and extension.

Diagnosing CADASIL using MRI: evidence from families with known mutations of Notch 3 gene.

Clinical data and MRI findings are presented on 18 subjects from two families with neuropathologically confirmed CADASIL. DNA analysis revealed mutations in exon 4 of Notch 3 gene in both families. All family members with mutations in Notch 3 gene had extensive abnormalities on MRI, principally lesions in the white matter of the frontal lobes and in the external capsules. Of several family members in whom a diagnosis of CADASIL was suspected on the basis of minor symptoms, one had MRI changes consistent with CADASIL; none of these cases carried a mutation in the Notch 3 gene. MRI and clinical features that may alert the radiologist to the diagnosis of CADASIL are reviewed. However, a wide differential diagnosis exists for the MRI appearances of CADASIL, including multiple sclerosis and small-vessel disease secondary to hypertension. The definitive diagnosis cannot be made on MRI alone and requires additional evidence, where available, from a positive family history and by screening DNA for mutations of Notch 3 gene.

Pattern of premature degenerative changes of the cervical spine in patients with spasmodic torticollis and the impact on the outcome of selective peripheral denervation.

OBJECTIVES: To characterise the pattern of and risk factors for degenerative changes of the cervical spine in patients with spasmodic torticollis and to assess whether these changes affect outcome after selective peripheral denervation. METHODS: Preoperative CT of the upper cervical spine of 34 patients with spasmodic torticollis referred for surgery were reviewed by two radiologists blinded to the clinical findings. Degenerative changes were assessed for each joint separately and rated as absent, minimal, moderate, or severe. Patients were clinically assessed before surgery and 3 months postoperatively by an independent examiner using standardised clinical rating scales. For comparison of means a t test was carried out. To determine whether an association exists between the side of degenerative changes and type of spasmodic torticollis a chi(2) test was used. Changes in severity, disability, and pain before and after surgery were calculated using a Wilcoxon matched pairs signed ranks test. RESULTS: Fourteen out of 34 patients had moderate or severe degenerative changes. They were predominantly found at the C2/C3 and C3/C4 level and were significantly more likely to occur on the side of the main direction of the spasmodic torticollis (p = 0.015). There was no significant difference in age, sex, duration of torticollis, overall severity, degree of disability, or pain between the group with either no or minimal changes and the group with moderate or severe changes. However, in the second group the duration of inadequate treatment was longer (10.1 v 4.8 years; p=0.009), head mobility was more restricted (p = 0.015), and head tremor was more severe (p = 0.01). At 3 months postoperatively, patients with n or minimal degenerative changes showed a significant improvement in pain and severity whereas no difference was found in those with moderate or severe changes. CONCLUSIONS: Patients with spasmodic torticollis have an increased risk of developing premature degenerative changes of the upper cervical spine that tend to be on the side towards which the head is turned or tilted and compromise outcome after surgery. Effective early treatment of spasmodic torticollis with botulinum toxin seems to have a protective effect. Patients with spasmodic torticollis and restricted head mobility who do not adequately respond to treatment should undergo imaging of the upper cervical spine. Patients with imaging evidence of moderate or severe degenerative changes seem to respond poorly to selective peripheral denervation.

Computed tomography of orbital dermoids: a 20-year review.

AIM: To review the computed tomographic images of orbital dermoid cysts referred to our institution over a 20-year period. MATERIALS AND METHODS: The CT images of 160 patients with histologically proven orbital dermoid cysts were reviewed and patient demographics and cyst characteristics were recorded. RESULTS: A total of 160 dermoid cysts were seen, 87 were in male and 73 in female patients with mean ages of 29 and 27 years respectively. The lateral aspect of the orbit was the most common site (69%, 111/160). Eighty-five percent (136/160) had adjacent bone changes, 46% (73/160) were of lower CT attenuation than the water in the vitreous body, 14% (22/160) had calcification, 5% (8/160) had fluid levels, 73% (117/160) had a visible wall and 80% (129/160) had no soft tissue present outside the cyst. CONCLUSION: Our study shows that orbital dermoids are frequently located at the lateral canthus. Bone sparing, calcification, fluid level, no visible wall and no abnormal soft tissue outside the cyst are infrequent. A CT attenuation similar to fat is relatively frequent. Although many lesions are typical, the range of appearances is wide.

A comparison of barium swallow and erect esophageal transit scintigraphy following balloon dilatation for achalasia.

We evaluated the relationship between radionuclide esophageal transit studies and barium swallow appearances in a group of patients following forceful balloon dilatation for the treatment of achalasia of the cardia. Paired erect radionuclide esophageal transit studies and erect barium swallows of a group of patients who had undergone pneumatic balloon dilatation for the treatment of achalasia were analyzed. Indices derived from the radionuclide transit study were the percentage of maximum activity remaining in the esophagus 30 s after swallowing a dilute volume of tracer (A30 s) and the percentage of retained activity remaining at 100 s after washout with a bolus of water (A100 s). Indices derived from the barium swallow were a subjective grading of the degree of esophageal dilatation on a 4-point scale and a similar grading of the maximum distensibility of the gastroesophageal channel. Twenty five pairs of radionuclide and barium studies in 18 patients were analyzed. There was statistically significant correlation between the amount of retained activity on the radionuclide studies and degree of esophageal dilatation on the barium studies (r = 0.69 for A30 s, r = 0.56 for A100 s, P = < 0.01). There was no correlation between the amount of retained activity on the radionuclide studies and the degree of distension of the gastroesophageal channel on barium studies. The relationship between the radionuclide esophageal transit curve and barium appearances of the esophagus following pneumatic balloon dilatation for the treatment of achalasia is complex. The transit study provides unreliable information about the distensibility of the gastroesophageal channel and should not be relied upon in isolation for assessment of the efficacy of treatment.

Magnetic resonance imaging of the lumbar spine: direct access for general practitioners.

At the Cardiff Royal Infirmary we have offered general practitioners (GPs) direct access for magnetic resonance imaging (MRI) of the lumbar spine for sciatica or suspected spinal claudication since January 1993. We compared referrals for MRI from GPs and hospital outpatient doctors, and assessed GP patient management following the scan report. No difference in the diagnostic rates for disc herniation and spinal stenosis were found. GP direct access shortens investigation time, potentially reduces waiting lists, and allows GPs to make more informed management decisions.