Hereditary Metabolic Diseases

Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS), a maternally

FIGURE 4.41

Complication of anticoagulation. A. CT scan of a 73-year-old man treated with Coumadin for chronic atrial fibrillation shows a recent left parietal infarct. B. CT scan repeated 3 days later because of mental changes shows an acute hemorrhage within the infarct.

FIGURE 4.41

Complication of anticoagulation. A. CT scan of a 73-year-old man treated with Coumadin for chronic atrial fibrillation shows a recent left parietal infarct. B. CT scan repeated 3 days later because of mental changes shows an acute hemorrhage within the infarct.

FIGURE 4.42

Bleeding within neoplasm mimicking a stroke. A 59-year-old man, in good health, suddenly collapsed. A few hours later, he was lethargic, his left side was paralyzed, a mild right ptosis was present, and the right pupil was slightly larger than the left, indicating incipient transtentorial uncal herniation. Three days later, he died. His medical history was significant for excision of a cutaneous melanoma 9 years earlier. A noncontrast CT scan of the head shows: (A) a large right frontal and (B) a small right occipital hyperdense lesion surrounded by hypodense edema with mass effect. The brain shows (C) circumscribed hemor-rhagic lesions corresponding to the large frontal and the small occipital lesions shown on the CT scan, and also a third small parietal lesion—histologically, all melanomas.

transmitted mitochondrial disease of young individuals, presents with recurrent ischemic events leading eventually to multiple infarctions.

Homocystinuria, an autosomal recessive disorder of methionine metabolism, affects chiefly infants and children and is associated with multiple ischemic strokes. The blood vessels display fibrous thickening and luminal occlusion.

Fabry's disease, a sex-linked recessive lysosomal metabolic disease, is characterized by cutaneous angio keratoma and deposits of glycosphingolipids in the neurons, visceral organs, and blood vessels. The disease predisposes to stroke in children and young adults.

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