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syndroom van progressieve encefalopathie, oedeem, hypsaritmie en opticusatrofie (aandoening)
syndroom van progressieve encefalopathie, oedeem, hypsaritmie en opticusatrofie
PEHO
Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy syndrome
PEHO syndrome
PEHO (progressive encephalopathy with edema, hypsarrhythmia and optic atrophy) syndrome
A rare neurodegenerative disorder belonging to the group of infantile progressive encephalopathies. Onset occurs during the first few weeks or months of life with hypotonia, poor feeding, drowsiness and abnormal movements. Infantile spasms, hypsarrhythmia and seizures appear during the first year of life. Visual loss, abnormal eye movements and optic atrophy also occur during infancy. Transmission appears to be autosomal recessive. A significant number of patients have been described who displayed most of the diagnostic criteria and features of PEHO syndrome, but did not appear to have cerebral atrophy on MRI, lacked the ophthalmologic signs and showed no reduction in CSF IGF-1 levels. This group of patients was diagnosed with PEHO-like syndrome. The prognosis is poor and most patients die before 15 years of age, mainly as a result of pneumonia or aspiration.
Id442511009
StatusPrimitive
Associated morphologylymfoedeem
Clinical courseprogressief
referentieset met complexe 'mapping' naar ICD-10
TargetG31.8
RuleTRUE
AdviceALWAYS G31.8
CorrelationSNOMED CT source code to target map code correlation not specified