Abstract
We report the imaging findings in five patients with a unique dysmyelinating disorder. MR studies of these infants showed obstructive hydrocephalus caused by mass effect produced by an enlarged cerebellum. The white matter of an enlarged cerebrum and cerebellum showed delayed myelination. Proton spectroscopy showed normal N-acetylaspartate (NAA) levels. While the dysmyelinating disorder was clearly differentiated from Canavan disease by an absence of elevated NAA and differing histopathologic findings and autosomal-dominant inheritance pattern, there were similarities to this disease in the presentation and, to some extent, in the initial imaging findings.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Adolescent
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Adult
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Aspartic Acid / analogs & derivatives
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Aspartic Acid / analysis
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Brain / metabolism
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Brain / pathology
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Canavan Disease / diagnosis
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Cerebellar Diseases / diagnosis
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Cerebellar Diseases / genetics
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Cerebellar Diseases / metabolism
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Cerebellar Diseases / pathology
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Cerebral Cortex / metabolism
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Cerebral Cortex / pathology
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Choline / analysis
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Creatine / analysis
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Demyelinating Diseases / diagnosis
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Demyelinating Diseases / genetics*
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Demyelinating Diseases / metabolism
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Demyelinating Diseases / pathology
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Diagnosis, Differential
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Female
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Genes, Dominant / genetics
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Humans
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Hydrocephalus / genetics
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Infant
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Magnetic Resonance Imaging*
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Magnetic Resonance Spectroscopy
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Male
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Middle Aged
Substances
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Aspartic Acid
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N-acetylaspartate
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Creatine
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Choline