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== | |||
===Symptoms=== | ===Symptoms=== | ||
Onset occurs during the first few weeks or months of life with | Onset occurs during the first few weeks or months of life with | ||
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* [[Hypsarrhythmia]] | * [[Hypsarrhythmia]] | ||
* [[Seizures]] | * [[Seizures]] | ||
* [[Psychomotor retardation| | * [[Psychomotor retardation|Psychomotor]] development | ||
* Intellectual deficit | * Intellectual deficit | ||
* [[Hypotonia]] | * [[Hypotonia]] |
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