Poststreptococcal dystonia with bilateral striatal enlargement: MR imaging and spectroscopic findings.

Isolated bilateral striatal necrosis is an abnormality of the basal ganglia associated with acute dystonia in children. This report describes the development of dystonic movements in a 7-year-old male patient 2 weeks after streptococcal pharyngitis.

A pediatric case of low-grade lymphomatoid granulomatosis presenting with a cerebellar mass.

Lymphomatoid granulomatosis (LA) is a rare angiocentric lymphoreticular proliferative disease that primarily involves the lungs but may also involve extrapulmonary sites including the central nervous system, skin, and kidneys. It is rare for this condition to affect children, and presentation as a cerebellar mass is unusual. In this report, we describe a 10-year-old girl with biopsy-proved cerebellar LA.

Medical genetics and patient use of the Internet.

Clinical experience suggests that the Internet is increasingly becoming a resource for patients seen in medical genetics. A prospective analysis was performed exploring patient use of the Internet prior to attending a medical genetics appointment. We administered 200 questionnaires assessing: 1) the frequency of patient use of the Internet for genetic information, 2) factors associated with Internet use, 3) patient assessment of the value of the information, and 4) patient views of the responsibility of medical genetics professionals to be familiar with Internet information. Results show that 77% (153/200) of patients have access to the Internet of which 29% (44/153) report searching the Internet for genetic information. A correlation was found between patient use of the Internet and reason for referral (p<0.001), presence of a specific diagnosis (p<0.001), and frequency of Internet use (p<0.05). Overall, 80% (33/41) of patients found Internet information useful. Seventy-four percent (115/155) believed that medical genetics professionals have a responsibility to review relevant Internet sites for accuracy and 80% (123/153) felt that professionals should provide their patients with appropriate and useful Internet sites. These results suggest that the role of medical genetics professionals is changing as a result of the development of the Internet.

Evolution of diagnostic neuroradiology from 1904 to 1999.

Neuroradiology began in the early 1900s soon after Roentgen discovered x rays, with the use of skull radiographs to evaluate brain tumors. This was followed by the development of ventriculography in 1918, pneumoencephalography in 1919, and arteriography in 1927. In the beginning, air studies were the primary modality, but this technique was supplanted by angiography in the 1950s and 1960s. The first full-time neuroradiologist in the United States was Cornelius G. Dyke at the New York Neurological Institute in 1930. Neuroradiology took a firm hold as a specialty in the early 1960s when Dr Juan M. Taveras brought together fourteen neuroradiologists from the United States and Canada to establish the nucleus of what was to become the American Society of Neuroradiology, or ASNR. This society's initial goals were to perform research and to advance knowledge within the specialty. Neuroradiologists initially were able to diagnose vascular disease, infections, tumors, trauma, and alterations in cerebrospinal fluid flow, because the brain structure was invisible. Neuroradiology was forever changed with computed tomography (CT) because the brain structure became visible. Soon thereafter, magnetic resonance (MR) imaging was developed, and it not only provided anatomic but also made possible vascular and physiologic functional imaging.

Anticipated versus actual emotional reactions to disclosure of results of genetic tests for cancer susceptibility: findings from p53 and BRCA1 testing programs.

PURPOSE: We examined the ability of individuals undergoing genetic testing for cancer susceptibility in two structured research protocols to accurately anticipate emotional reactions to disclosure of their test result. We explored whether accuracy of emotional anticipation was associated with postdisclosure psychologic adjustment. METHODS: Data from 65 individuals were analyzed; 24 members of Li-Fraumeni cancer syndrome families were tested for p53 mutations (all 24 were unaffected), and 41 subjects with hereditary breast-ovarian cancer susceptibility were tested for BRCA1 mutations (34 were unaffected and seven were affected). Subjects were from families in which a germline mutation had been previously identified. At the pretest session, subjects rated the extent to which they anticipated feeling each of six emotional states (relief, happiness, sadness, guilt, anger, and worry) after disclosure that they did or did not carry the familial mutation. After receiving their test result, they rated their feelings on the same scale of emotions for the appropriate condition. Extent of accuracy and association with psychologic distress at 6 months, as assessed with standardized measures, were evaluated. RESULTS: Overall, mean levels of emotional reactions after receiving test results were not different from those anticipated before result disclosure. However, affected BRCA1 carriers experienced higher levels of anger and worry than they had anticipated. Underestimation of subsequent distress emotions related to test result was associated with a significant increase in general psychologic distress at 6 months. CONCLUSION: Unaffected individuals in cancer-predisposition testing programs are generally accurate in anticipating emotional reactions to test results. However, cancer patients may underestimate their distress after disclosure of positive results and could benefit from intervention strategies.

BRCA1 testing and informed consent in a woman with mild retardation.

Cancer predisposition testing can pose complex genetic counseling issues. This case report discusses whether it is appropriate to provide BRCA1 testing to a woman with limited intellectual capacity and documented psychological distress. This case is one of several cancer counseling cases presented to our Genetic Counseling Supervision Group over the past three and a half years. The Supervision Group provided valuable feedback and support to proceed with this challenging case.

Correction of CSF motion artifact on MR images of the brain and spine by pulse sequence modification: clinical evaluation.

A modification of the standard spin-echo pulse sequence designed to suppress motion artifacts was clinically evaluated on T2-weighted MR images of the cervicocranial region. A retrospective study involving 40 patients, half of whom were examined with a standard T2-weighted multislice spin-echo sequence and half of whom were examined with a gradient waveform modification of the same sequence, uniformly demonstrated restoration of CSF signal intensity on images obtained with the gradient modified sequence. The cervical subarachnoid spaces, cisterna magna, medullary cistern, pontine cistern, fourth ventricle, and aqueduct were more consistently and brightly represented. However, the phase-encoding artifacts arising from CSF motion were not significantly reduced by using the gradient waveform modified pulse sequence. Digital subtraction of an image obtained with the standard sequence from an image of the same slice with the gradient modified sequence provides a direct image representation of CSF flow.

Recurrent postdiskectomy low back pain: MR-surgical correlation.

The preoperative MR findings in 11 patients, all of whom had developed recurrent low back pain after surgery for herniated lumbar intervertebral disk, were correlated with the surgical findings to determine possible criteria for distinguishing recurrent disk herniation from postoperative scar (extradural fibrosis). The preoperative MR findings agreed with the surgical findings in seven of eight patients with recurrent disk herniation and in six of nine individuals with extradural fibrosis. The most important parameters in differentiating recurrent herniated disk from extradural scar were the configuration and margination of the extradural mass rather than its signal characteristics. The most reliable MR sign for recurrent herniated disk was the presence of a sharply marginated focal polypoid disk protrusion beyond the posterior margins of the adjacent vertebral bodies shown to best advantage on sagittal T1- and T2-weighted and axial T1-weighted spin-echo MR images. Disk herniations usually maintained isointensity with the intervertebral disk of origin, while extradural fibrosis exhibited variable signal intensity. The preoperative diagnosis of extradural fibrosis on MR was based primarily on its irregular configuration and extension. This study suggests that preoperative differentiation between scar and recurrent herniated disk is possible with MR when morphology and topography are considered in addition to signal intensity.

Spontaneous dissection of the cervical internal carotid artery: correlation of arteriography, CT, and pathology.

Spontaneous dissection of the internal carotid artery is being recognized as a more frequent cause of acute neurologic deficit, particularly in young persons. Saccular pseudoaneurysm formation may be an associated finding, especially in the presence of tortuosity (coiling) of the cervical internal carotid artery. Of eight patients with nine vessels demonstrating internal carotid artery dissection on arteriography, pseudoaneurysms were found in five arteries. Four of the five pseudoaneurysms occurred in tortuous (coiled) arterial segments. Thin-section contrast-enhanced dynamic incremental CT showed close agreement with the findings on selective arteriography and provided additional information on the presence and configuration of arterial wall thickening as well as the extent of the pseudoaneurysm. Our experience indicates that CT may play an important role in the diagnosis, management, and follow-up of this lesion.

Recurrent post-discectomy pain. CT--surgical correlation.

Diagnostic evaluation of the patient with recurrent lumbosacral radiculopathy following lumbar laminectomy and discectomy represents a difficult task for the radiologist. Neither non-enhanced CT nor myelography have permitted reliable differentiation between postoperative extradural fibrosis (scarring) and recurrent disc herniation. However, CT following intravenous contrast infusion has been reported by several investigators to allow differentiation of these two entities. A series of 13 patients is reported with correlation between the findings on postcontrast CT and at reoperation. In 5 patients who exhibited variable contrast enhancement of an extradural soft tissue mass without a discreet lucent component on postcontrast CT, operative reexploration revealed only scar tissue. In 8 patients in whom postcontrast CT demonstrated a discreet non-enhancing extradural mass (partially surrounded by a thin enhancing rim of soft tissue in all but one), recurrent disc herniation together with an overlying band of scar was found and resected at reoperation. The strong positive correlation between CT and operative findings in this series suggests that postcontrast CT may well prove to be a reliable method for preoperative differentiation of recurrent disc herniation from extradural scarring.

Atheromatous extracranial carotid arteries: CT evaluation correlated with arteriography and pathologic examination.

Dynamic, rapid sequence, axial computed tomography (CT) was employed to evaluate the extracranial common and internal carotid arteries in 17 patients with clinical histories suggesting recent or remote ischemia in the territory supplied by the internal carotid artery. The CT findings were correlated with arteriographic observations and with gross and histologic evaluations of endarterectomy specimens. Areas of arterial wall thickening were evaluated on CT scans with regard to both degree of thickening and radiographic density (attenuation). The degree of vessel wall thickening secondary to atheromatous plaque demonstrated on CT scans corresponded closely to the severity of luminal compromise seen on arteriograms. Isodense or mildly hypodense focal mural thickening noted on CT scans of seven endarterectomy specimens proved to be primarily fibrotic (simple) atheromatous plaque on gross and histologic examination. Areas of markedly lucent focal mural thickening on CT scans of 11 specimens all demonstrated varying amounts of subintimal hemorrhage within loosely arranged and rather acellular (complex) atheromatous plaques on pathologic examination. While arteriography provides information regarding the status of the arterial lumen, CT offers the potential of accurate characterization of pathologic changes in the wall of the extracranial carotid arteries in patients with symptoms of cerebral ischemia.

Lumbar myelography with iohexol and metrizamide. A comparative multicenter prospective study.

Diagnostic quality and adverse reactions associated with metrizamide and iohexol as contrast agents for lumbar myelography were compared in a prospective randomized double-blind study in 350 patients at seven centers. Both contrast media were administered in comparable volumes at a concentration of 180 mg I/ml. Overall quality of radiographic visualization was graded as "good" or "excellent" in 95% of 175 metrizamide studies and in 98% of 175 iohexol myelograms. Ninety-three patients examined with metrizamide (53%) and 130 patients studied with iohexol (74%) experienced no discomfort during or after myelography. The incidence of postmyelographic headache was 38% with metrizamide and 21% with iohexol. Nausea and vomiting were also more common with metrizamide. Five patients examined with metrizamide (3%) experienced transient confusion and disorientation after lumbar myelography. No such reactions were observed after iohexol myelography.

Iopamidol and metrizamide for myelography: prospective double-blind clinical trial.

In a comparative randomized double-blind study, 73 patients underwent myelography using iopamidol (36 patients) or metrizamide (37 patients) as contrast medium. The overall diagnostic adequacy of iopamidol myelography was found to be comparable to that of metrizamide myelography. The incidence of examinations graded as superior (64%) or adequate (36%) with iopamidol was equivalent to that with metrizamide (57% superior, 43% adequate). Adverse reactions after iopamidol myelography were fewer, less severe, and generally of shorter duration than those associated with metrizamide. In the iopamidol group, adverse reactions occurred in nine (25%) patients, all of whom experienced mild or moderate headache, one with nausea, vomiting, and fatigue. In the metrizamide group, adverse reactions occurred in 17 (46%) patients, all of whom experienced mild or moderate headache, six with nausea and vomiting and four with back and leg pain. Of nine individuals who underwent myelography using 300 mg 1/ml metrizamide injected via lateral C1-C2 puncture, three experienced a toxic encephalopathy with confusion, dysphasia, headache, nausea, and vomiting, and a fourth individual suffered severe nausea, vomiting, fever, and irregular pulse. Encephalopathy was not observed in any of the 11 patients in whom myelography was performed via lateral C1-C2 puncture with a similar concentration of iopamidol. No seizures were encountered, and no clinically significant changes in laboratory studies were observed with either contrast medium.