Abstract
PEHO syndrome is a rare progressive infantile encephalopathy, with variable age of onset of hypotonia, convulsions, mental retardation, oedema, and optic atrophy. Neuroimaging shows cerebellar and brainstem atrophy in most instances. A PEHO-like syndrome has been described in which those affected do not have the typical changes on neuroimaging. We report four new cases, two isolated cases and two sisters, who might be part of the PEHO-like syndrome.
Publication types
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Case Reports
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Comparative Study
MeSH terms
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Abnormalities, Multiple / classification*
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Abnormalities, Multiple / diagnosis
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Arrhythmias, Cardiac / classification*
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Arrhythmias, Cardiac / diagnosis
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Brain Diseases / classification*
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Brain Diseases / diagnosis
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Brain Edema / classification*
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Brain Edema / diagnosis
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Diagnosis, Differential
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Fatal Outcome
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Female
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Humans
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Infant
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Infant, Newborn
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Male
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Optic Atrophy / classification*
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Optic Atrophy / diagnosis
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Syndrome