Document Detail

PEHO and PEHO-like syndromes: report of five Australian cases.
MedLine Citation:
PMID:  12949965     Owner:  NLM     Status:  MEDLINE    
PEHO syndrome is a rare progressive infantile encephalopathy with onset within the first few months of life. Few patients fulfilling the diagnostic criteria for PEHO syndrome have been reported outside Finland. Affected infants have facial dysmorphism and suffer from severe hypotonia, profound mental retardation, convulsions (often with a hypsarrhythmic EEG pattern), transient or persistent peripheral oedema, and optic atrophy. Cerebellar and brainstem atrophy are usually present on neuroimaging. A PEHO-like syndrome has been described, in which the affected individuals have neither optic atrophy nor the typical neuroradiological findings. We report five Australian patients, the first with classical features of PEHO syndrome, and four who have a PEHO-like disorder. We compare their features with other published cases. We suggest that PEHO or a PEHO-like syndrome may affect more patients than are currently identified, based on the original diagnostic criteria for this disorder.
M J Field; P Grattan-Smith; S M Piper; E M Thompson; E A Haan; M Edwards; S James; I Wilkinson; L C Adès
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  American journal of medical genetics. Part A     Volume:  122A     ISSN:  1552-4825     ISO Abbreviation:  Am. J. Med. Genet. A     Publication Date:  2003 Sep 
Date Detail:
Created Date:  2003-09-01     Completed Date:  2004-04-07     Revised Date:  2008-05-21    
Medline Journal Info:
Nlm Unique ID:  101235741     Medline TA:  Am J Med Genet A     Country:  United States    
Other Details:
Languages:  eng     Pagination:  6-12     Citation Subset:  IM    
Copyright Information:
Copyright 2003 Wiley-Liss, Inc.
Department of Clinical Genetics, The Children's Hospital at Westmead, New South Wales, Australia.
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MeSH Terms
Brain Diseases, Metabolic, Inborn / genetics,  physiopathology*
Child, Preschool
Edema / genetics,  physiopathology*
Optic Atrophy / genetics,  physiopathology*
Spasms, Infantile / genetics,  physiopathology*

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