Glossary in Congenital Malformations

NeuroLearn NeuroHelp Malformations @ General Syndromes

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General:

Syndromes and Sequences:  Head

#Zellweger syndrome (cerebrohepatorenal syndrome): Zellweger syndrome is a peroxisomal disease with autosomal recessive transmission. Biochemically it is characterized by abnormal accumulation of very long chain fatty acid. The peroxisomal Beta-oxidation is impaired and lead to the accumulation of saturated very long chain (over 22 carbon) fatty acid (VLCFA). Pathologically, there is migration defect affecting both the cerebral hemisphere and cerebellar hemisphere. Zellweger syndrome, neonatal adrenoleukodystrophy (NALD), and infantile Refsum’s disease constitute a disease continuum of peroxisomal disorders. Migration disorders can be seen in both Zellweger syndrome and, less severely, in NALD. No malformation has been reported in infantile Refsum’s disease.

NeuroLearn NeuroHelp Malformations General Syndromes For Comment: KarMing-Fung@ouhsc.edu