A 31-Year-Old Man With a Ring-Enhancing Brain Lesion.

A 31-year-old man with a history of appendicitis, bilateral femoral head avascular necrosis, impaired vision, headache, irritability, and pedal edema presented with a newonset seizure. At age 21 years, he underwent emergent appendectomy. Around that time, he developed blanchable angiomata over his left shoulder after sun exposure. Eight months later, he required total hip replacement for bilateral femoral head avascular necrosis. His vascular risk factors were rare intranasal cocaine use and smoking a half pack of cigarettes daily. At age 26, he developed scotoma in his left visual field. At age 28, he experienced severe weekly migraines without aura. At age 30, he developed an irritable mood, pedal edema, and visual blurring, and “dark spots” in his right visual field. He had no other medical history and took no medications. The patient’s family history was notable for cirrhosis and a reported diagnosis of an astrocytoma in his father. At age 27, his father had developed hypertension and gastrointestinal bleeding with abnormal liver function; he had an unremarkable hepatitis screen, ceruloplasmin level, and 24-hour urinary copper. Endoscopy showed esophageal varices, and angiography revealed portal hypertension. Liver biopsy showed cirrhosis of likely postnecrotic origin without iron or copper deposition. At age 31, his father developed headaches and complex partial seizures, at which time brain computed tomography (CT) showed a left frontal lobe mass. Cerebral angiography did not show a tumor blush. The brain mass was surgically resected and demonstrated necrosis and gliosis without evidence of malignancy. However, sites in the lesion bed not clearly part of the primary mass were reported as showing partial replacement by a Grade II astrocytoma with focal necrosis. The brain mass was presumed to be an astrocytoma, and he was treated with radiation therapy. Seizures were controlled, but he subsequently developed liver failure and died later that year. Upon presentation, our patient was hypertensive (170/90) and febrile (38.9°C). Examination was notable for lethargy, equally reactive pupils, bilateral pedal edema, and 3+ reflexes without Babinski sign. Initial laboratory evaluation revealed leukocytosis of 19,000 cells/mL, creatinine of 1.69 mg/dL (normal: 0.60–1.23 ng/dL), and elevated liver enzymes. Brain MRI was performed.