A patient with hydranencephaly and PEHO-like dysmorphic features.
Ann Genet
; 46(1): 25-8, 2003.
Article
in En
| MEDLINE
| ID: mdl-12818526
ABSTRACT
Progressive encephalopathy with Edema, Hypsarrhythmia, and Optic atrophy (PEHO syndrome) is a rare recessive autosomal neurodegenerative condition essentially described in Finland. The term PEHO-like syndrome has been proposed for patients who share clinical features of PEHO syndrome but lack the cerebellar atrophy, one of its major diagnostic criteria. We describe a patient presenting with hypoxic-ischaemic encephalopathy and PEHO-like syndrome features.
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Database:
MEDLINE
Main subject:
Hypoxia-Ischemia, Brain
Limits:
Child, preschool
/
Humans
/
Male
/
Newborn
Language:
En
Year:
2003
Type:
Article