Cerebral infarction in Menkes' disease

Menkes' disease is an X-linked disorder caused by impaired intracellular tr ansport of copper. Currently, no therapy effectively arrests the relentless neurodegeneration of Menkes' disease. Previous neuroimaging reports of pat ients with Menkes' disease describe a range of abnormalities, including int racranial vessel tortuosity and cerebral white matter changes. We report tw o infants with Menkes' disease who developed ischemic cerebrovascular disea se early in infancy. Magnetic resonance studies, including diffusion-weight ed imaging and proton magnetic resonance spectroscopy, demonstrated bilater al infarctions of deep gray matter nuclei, a finding not previously describ ed in Menkes' disease. Potential mechanisms for these cerebrovascular lesio ns in Menkes' disease include the susceptibility to free radical attack and inadequate energy supply from oxidative phosphorylation. These infarctions may play an unrecognized but important role in the neurodegeneration of ch ildren with Menkes' disease. The development of effective therapeutic agent s against this disease will require a more detailed understanding of such u nderlying mechanisms. (C) 2000 by Elsevier Science Inc. All rights reserved .