Child neurology: Zellweger syndrome.

TitleChild neurology: Zellweger syndrome.
Publication TypeJournal Article
Year of Publication2013
AuthorsLee PR, Raymond GV
JournalNeurology
Volume80
Issue20
Paginatione207-10
Date Published2013 May 14
Abstract

Zellweger syndrome (ZS) is a severe manifestation of disease within the spectrum of peroxisome biogenesis disorders that includes neonatal adrenoleukodystrophy, infantile Refsum disease, and rhizomelic chondroplasia punctata. Patients with ZS present in the neonatal period with a characteristic phenotype of distinctive facial stigmata, pronounced hypotonia, poor feeding, hepatic dysfunction, and often seizures and boney abnormalities. In patients with ZS, a mutation in one of the PEX genes coding for a peroxin (a peroxisome assembly protein) creates functionally incompetent organelles causing an accumulation of very long chain fatty acids (VLCFA), among other complications. Despite an absence of treatment options, prompt diagnosis of ZS is important for providing appropriate symptomatic care, definitive genetic testing, and counseling regarding family planning.

DOI10.1155/2013/405284
Alternate JournalNeurology