Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy: Difference between revisions
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__NOTOC__ | __NOTOC__ | ||
{{SI}} | {{SI}} | ||
{{CMG | {{CMG}} | ||
{{SK}} Infantile cerebello optic atrophy ; PEHO syndrome <ref>http://rarediseases.info.nih.gov/GARD/Condition/4264/PEHO_syndrome.aspx</ref> | |||
==Overview== | ==Overview== | ||
PEHO (Progressive [[encephalopathy]] with [[Edema]], [[Hypsarrhythmia]] and [[Optic atrophy]]) syndrome is a rare neurodegenerative disorder belonging to the group of infantile progressive encephalopathies.<ref>http://www.ncbi.nlm.nih.gov/pubmed/8301648</ref> | PEHO (Progressive [[encephalopathy]] with [[Edema]], [[Hypsarrhythmia]] and [[Optic atrophy]]) syndrome is a rare neurodegenerative disorder belonging to the group of infantile progressive encephalopathies.<ref>http://www.ncbi.nlm.nih.gov/pubmed/8301648</ref> | ||
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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).<ref>http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2836</ref> | 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).<ref>http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2836</ref> | ||
== | ==Diagnosis== | ||
Onset occurs during the first few weeks or months of life with | ===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 retardation|Psychomotor]] development | |||
* Intellectual deficit | |||
* [[Hypotonia]] | |||
==References== | ==References== |
Latest 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