A patient with hydranencephaly and PEHO-like dysmorphic features.

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.

• Authors: Cyril Goizet, Caroline Espil-Taris, Marie Husson, Jean-François Chateil, Jean-Michel Pedespan, Didier Lacombe
• Journal: Annales de genetique (Ann Genet) Vol. 46 Issue 1 Pg. 25-8 ( 2003) ISSN: 0003-3995 [Print] Netherlands
• PMID: 12818526 (Publication Type: Case Reports, Journal Article)

Topics

• Brain (diagnostic imaging)
• Child, Preschool
• Edema (pathology)
• Face (abnormalities)
• Hand Deformities, Congenital (diagnostic imaging)
• Humans
• Hypoxia-Ischemia, Brain (diagnostic imaging, pathology)
• Infant, Newborn
• Male
• Optic Atrophy (pathology)
• Spasms, Infantile (pathology)
• Syndrome
• Tomography, X-Ray Computed