Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy: Difference between revisions
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{{SK}} Infantile cerebello optic atrophy ; PEHO syndrome <ref>http://rarediseases.info.nih.gov/GARD/Condition/4264/PEHO_syndrome.aspx</ref> | {{SK}} Infantile cerebello optic atrophy ; PEHO syndrome <ref>http://rarediseases.info.nih.gov/GARD/Condition/4264/PEHO_syndrome.aspx</ref> | ||
==Overview== | ==Overview== |
Revision as of 19:50, 10 August 2012
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Synonyms and keywords: Infantile cerebello optic atrophy ; PEHO syndrome [1]
Overview
PEHO (Progressive encephalopathy with Edema, Hypsarrhythmia and Optic atrophy) syndrome is a rare neurodegenerative disorder belonging to the group of infantile progressive encephalopathies.[2]
Epidemiology
The incidence in Finland has been estimated at 1 in 78 000, but a few patients have been described from other countries including (The Netherlands, Spain France).[3]
Diagnosis
Symptoms
Onset occurs during the first few weeks or months of life with
- Poor feeding
- Drowsiness
- Abnormal movements
Physical Examination
Head
- Microcephaly
- Facial dysmorphism (including a 'Pear-shaped' face with a narrow forehead and full cheeks, receding chin, epicanthic folds, an open mouth with a curved upper lip, protruding ear lobes and a short nose with anteverted nostrils)
Eyes
- Visual loss
- Abnormal eye movements
- Optic atrophy also occur during infancy
Extremeties
- Edema
- Tapered fingers
Neurologic
- Infantile spasms
- Hypsarrhythmia
- Seizures
- Psychomotor development
- Intellectual deficit
- Hypotonia