title: Zellweger syndrome, retinal involvement.
abstract: Progresses in biochemistry permit one to distinguish three biochemical forms of Zellweger Syndrome: 1) hyperpipecolic acidemia, 2) neonatal adrenoleukodystrophy, and 3) infantile Refsum's disease, which have similar clinical manifestations. A seven-month-old male patient with Zellweger Syndrome is presented. He had absence of peroxismes in the liver and elevated pipecolic acids and abnormal levels of bile acids in the blood. The child had a typical neurologic clinical manifestation with hepatomegaly. The ophthalmoscopy revealed grey disks and retinitis pigmentosa with extinguished ERG and law and delayed VEP. The importance of the constant retinal involvement in Zellweger Syndrome is discussed.
authors.affiliation: Service d'Ophtalmologie, Université Catholique de Louvain, Bruxelles 12, Belgium.
authors.forename: B
authors.initials: B
authors.lastname: Stanesu-Segal
authors.forename: P
authors.initials: P
authors.lastname: Evrard
mesh_terms: D001647:Bile Acids and Salts / Q000097:blood; D004596:Electroretinography; D005654:Fundus Oculi; D006801:Humans; D007223:Infant; D008297:Male; D010875:Pipecolic Acids / Q000097:blood; D012174:Retinitis Pigmentosa / Q000209:etiology*; D015211:Zellweger Syndrome / Q000097:blood / Q000150:complications*
chemical_list: D001647:Bile Acids and Salts; D010875:Pipecolic Acids; C031345:pipecolic acid