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A 48-year-old, right-handed man was evaluated in the neurology clinic of this hospital because of weakness of his arms and legs.
When the patient was 18 years of age, a mass on the right side of his neck developed; a biopsy was performed at another hospital, and he was told he had von Recklinghausen's neurofibromatosis. At 45 years of age, pain and weakness in his left leg developed. A radiograph of the left knee performed elsewhere showed what were described as tumors, and he was referred to an orthopedist at this hospital. Magnetic resonance imaging (MRI) showed an enhancing lesion,
Differential Diagnosis
Classification and Diagnosis of Neurofibromatosis
Familial Spinal Neurofibromatosis
Genetic Testing in Neurofibromatosis
Diagnosis
Clinical Diagnosis
Dr. Bruce R. Korf's Diagnosis
Pathological Discussion
Anatomical Diagnosis
Source Information
From the Department of Genetics, University of Alabama at Birmingham (B.R.K.); and the Departments of Radiology and Neurology (J.W.H.) and Pathology (A.S.-R.), Massachusetts General Hospital and Harvard Medical School — both in Boston.
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