Abstract
PEHO syndrome is a rare symptom complex of severe progressive encephalopathy, edema, hypsarrhythmia, and optic atrophy. Disease onset is in early infancy. The current case report presents and discusses serial conventional MR imaging findings and serial functional studies including diffusion tensor imaging and quantitative MR spectroscopy findings in a 6-year-old child with PEHO.
MeSH terms
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Aspartic Acid / analogs & derivatives
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Aspartic Acid / analysis
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Atrophy
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Brain Diseases / diagnosis*
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Brain Edema / diagnosis
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Cerebellum / pathology
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Child
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Choline / analysis
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Creatine / analysis
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Diffusion Magnetic Resonance Imaging*
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Edema / diagnosis*
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Female
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Follow-Up Studies
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Humans
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Infant
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Lactic Acid / analysis
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Magnetic Resonance Imaging*
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Magnetic Resonance Spectroscopy*
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Neurodegenerative Diseases / diagnosis
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Optic Atrophy / diagnosis*
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Spasms, Infantile / diagnosis*
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Syndrome
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