Abstract:
:We report on two Japanese siblings (one female and one male) with PEHO syndrome (progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy). They showed profound generalized hypotonia early in infancy and developed infantile spasms with hypsarrhythmia within the first year of life. Abnormal eye movement and visual failure with optic atrophy were also observed early in infancy. Psychomotor development was arrested and serial neuroradiological studies showed slight progressive brain atrophy, dominantly of the brainstem. This is the first case report of PEHO syndrome, other than those dealing with the Finnish population.
journal_name
Neuropediatricsjournal_title
Neuropediatricsauthors
Fujimoto S,Yokochi K,Nakano M,Wada Ydoi
10.1055/s-2007-979771subject
Has Abstractpub_date
1995-10-01 00:00:00pages
270-2issue
5eissn
0174-304Xissn
1439-1899journal_volume
26pub_type
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