Preliminary Diagnosis: Neurofibromatosis
I. What imaging technique is first-line for this diagnosis?
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MRI imaging of the brain and spine with contrast
II. Describe the advantages and disadvantages of this technique for diagnosis of neurofibromatosis.
Advantages
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Diagnostic in the appropriate clinical setting
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Able to determine both the extent and type of intracranial anomaly associated with NF1/NF2
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Does not utilize ionizing radiation
Disadvantages
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Expensive
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Time consuming
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Requires significant patient cooperation to minimize motion artifact
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Requires the patient have adequate renal function (ie, GFR > 30 )
III. What are the contraindications for the first-line imaging technique?
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Contraindicated in patients with poor renal function (ie, GFR < 30)
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Contraindicated in patients with non–MR-compatible metallic hardware or foreign bodies
IV. What alternative imaging techniques are available?
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Contrast-enhanced CT
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Catheter-based angiography
V. Describe the advantages and disadvantages of the alternative techniques for diagnosis of neurofibromatosis.
Contrast-enhanced CT
Advantages
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Quicker and less expensive than MR imaging
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Less prone to motion artifact
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More adept than MR at detecting associated osseous abnormalities such as sphenoid and occipital bone dysplasias, spinal scoliosis, etc
Disadvantages
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Has both a lower sensitivity and specificity in detecting associated intracranial abnormalities
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Not able to depict early parenchymal brain changes associated with neurofibromatosis and has less anatomic detail than MRI
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Exposes the patient to ionizing radiation
Catheter Angiography
Advantages
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Gold standard in detecting associated vascular lesions of NF such as aneurysms/AVMs, stenoses, etc
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Can be used as both diagnostic and therapeutic modality
Disadvantages
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Invasive procedure
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Limited to only vascular findings associated with NF
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Time consuming
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Exposes the patient to a high degree of ionizing radiation
VI. What are the contraindications for the alternative imaging techniques?
Contrast-enhanced CT
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Contraindicated in pregnant patients, especially during the first two trimesters
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Contraindicated in patients with poor renal function
Catheter Angiography
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Contraindicated in patients in a hypocoagulable state (ie, platelets < 50,000 and INR > 2)
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Contraindicated in pregnant patients
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Contraindicated in patients with poor renal function
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