Zellweger Syndrome

Zellweger (Cerebrohepatorenal) Syndrome is a generalized peroxisomal disorder that presents in the newborn period with severe cerebral, hepatic, and renal abnormalities. Perixosomes are especially abundant in the liver and kidney, which explains the "hepato" and "renal" manifestations of the syndrome, and peroxisomes catalyze the production of a key component of myelin (plasmalogen), which explains the cerebral component of the syndrome. Key Symptoms:

• Cognitive Impairment & Seizures
• Hypotonia
• Hearing & Vision Loss
• Facial & Skeletal Dysmorphism/Abnormalities: cranial suture or fontanelle abnormalities, nasal bridge depression, epicanthus (vertical skin fold on the side of the nose), stippled epiphysis (long bones).
• Organ Failure: "hepato" (liver - enlargement/failure), "renal" (kidney), and heart.

Key Radiographic findings:

• Germinolytic cysts: periventricular empty spaces, "pseudocysts".
• Germinolytic cysts, most notably, arise from necrosis of periventricular unmyelinated white matter.
• Pachygyria (large, flat gyri) with Peri-Sylvian Polymicrogyria (excessive, superficial gyral folding in the Insula and Sylvian fissure).

The Zellweger Spectrum encompasses: