Abstract
The authors present 2 girls with progressive encephalopathy, hypsarrhythmia, and optic atrophy syndrome. They describe a novel finding, precocious puberty, a feature not previously reported in this syndrome. The authors also present their clinical features and the results of investigations, including radiological findings, and compare the patients of this report to previously reported cases.
MeSH terms
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Abnormalities, Multiple / diagnostic imaging
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Abnormalities, Multiple / pathology
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Abnormalities, Multiple / physiopathology
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Adult
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Brain Damage, Chronic / etiology*
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Brain Damage, Chronic / pathology
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Brain Damage, Chronic / physiopathology
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Brain Edema / complications*
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Brain Edema / diagnosis
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Brain Edema / physiopathology
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Child
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Diagnosis, Differential
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Disease Progression
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Female
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Humans
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Infant
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Neurodegenerative Diseases / complications*
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Neurodegenerative Diseases / diagnosis
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Neurodegenerative Diseases / physiopathology
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Optic Atrophy / complications*
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Optic Atrophy / diagnosis
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Optic Atrophy / physiopathology
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Puberty, Precocious / diagnosis*
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Puberty, Precocious / etiology*
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Puberty, Precocious / physiopathology
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Radiography
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Spasms, Infantile / complications*
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Spasms, Infantile / diagnosis
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Spasms, Infantile / physiopathology