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Progressive Encephalopathy with Edema, Hypsarrhythmia, and Optic Atrophy (PEHO syndrome) in Two Japanese Siblings -
Fujimoto et al report on two Japanese siblings with PEHO syndrome (progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy), the first case report of PEHO syndrome outside Finland.
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=8552220 PEHO syndrome -
Somer describes a number of Finnish cases.
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=8301648 Infantile Cerebello-Optic Atrophy -
Haltia and Somer describe eight cases of the progressive encephalopathy syndrome with edema, hypsarrhythmia and optic atrophy (PEHO syndrome).
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=8460530 Online Mendelian Inheritance in Man -
Summarizes the current understanding of Progressive Encephalopathy with edema, Hypsarrhythmia, and Optic atrophy (PEHO syndrome).
http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=260565 Cranial Magnetic Resonance Imaging Mistakenly Suggests Prenatal Ischaemia in PEHO-Like Syndrome -
Longman, Tolmie, McWilliam and MacLennan describe two sisters with a PEHO-like syndrome, for the eldest of whom cranial magnetic resonance imaging revealed periventricular white matter changes, whilst cerebellar hypoplasia, characteristic of true PEHO syndrome, was absent.
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=12868478
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