Abstract
We describe three cases of the rare syndrome of leukoencephalopathy, brain calcifications, and cysts. Conventional MRI, proton spectroscopy, and diffusion-weighted imaging yielded additional information on the disease. Imaging findings favor increased water content rather than a demyelinating process in the pathophysiology of this disease. Clinical features of Coats disease and consanguinity were also encountered.
Publication types
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Adolescent
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Aspartic Acid / analogs & derivatives*
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Aspartic Acid / metabolism
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Brain / metabolism
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Brain / pathology*
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Brain Diseases / complications
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Brain Diseases / diagnosis*
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Brain Diseases / pathology
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Calcinosis / complications
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Calcinosis / diagnosis*
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Central Nervous System Cysts / complications
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Central Nervous System Cysts / diagnosis*
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Child
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Choline / metabolism
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Creatine / metabolism
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Diffusion Magnetic Resonance Imaging
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Disease Progression
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Female
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Humans
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Lactic Acid / metabolism
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Magnetic Resonance Imaging
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Magnetic Resonance Spectroscopy
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Male
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Rare Diseases / diagnosis
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Retinal Diseases / complications
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Retinal Diseases / diagnosis*
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Syndrome
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Tomography, X-Ray Computed
Substances
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Aspartic Acid
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Lactic Acid
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N-acetylaspartate
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Creatine
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Choline