Zellweger syndrome

Zellweger Syndrome

Zellweger syndrome, also known as cerebrohepatorenal syndrome, is a rare and severe genetic disorder characterized by the malfunction of peroxisomes, which are cellular structures involved in various metabolic processes. This syndrome belongs to a group of disorders called peroxisome biogenesis disorders (PBDs).

Symptoms:

• Neurological Impairment: Individuals with Zellweger syndrome typically experience severe neurological symptoms, including hypotonia (low muscle tone), developmental delay, intellectual disability, seizures, and impaired vision and hearing. These neurological issues often result from abnormal brain development.
• Hepatic (Liver) Dysfunction: Liver dysfunction is common in Zellweger syndrome, leading to hepatomegaly (enlarged liver) and impaired liver function. Jaundice (yellowing of the skin and eyes) may also occur.
• Renal (Kidney) Abnormalities: Kidney abnormalities, such as cysts or structural defects, can be present in individuals with Zellweger syndrome. These renal issues can contribute to complications and affect overall health.
• Distinctive Facial Features: Babies born with Zellweger syndrome may have characteristic facial features, including a high forehead, large fontanelles (soft spots on the head), flattened facial features, and a prominent forehead.
• Skeletal Abnormalities: Skeletal abnormalities, such as long bones that are slender and may be bowed, can be observed in some individuals with Zellweger syndrome.

Causes:

• Zellweger syndrome is caused by mutations in genes responsible for peroxisome biogenesis, including PEX1, PEX2, PEX3, PEX5, PEX6, PEX10, PEX12, PEX13, PEX14, and PEX16. These mutations lead to a deficiency or dysfunction of peroxisomes, which disrupts various metabolic pathways critical for normal cellular function.

Prognosis:

The prognosis for individuals with Zellweger syndrome is poor, as the condition is progressive and life-threatening. Most affected individuals do not survive beyond the first year of life.

Treatment:

Treatment for Zellweger syndrome is primarily supportive and aims to manage symptoms and complications as they arise. This may include nutritional support, seizure management, and supportive care for liver and kidney dysfunction.

Early diagnosis through genetic testing and supportive care can help improve the quality of life for affected individuals, but there is currently no cure for Zellweger syndrome.