E71.510 Zellweger syndrome

Name of the Condition

• Zellweger syndrome

Summary

Zellweger syndrome is a severe genetic disorder affecting peroxisome biogenesis, a critical cellular process for breaking down fatty acids, producing bile acids, and detoxifying harmful substances. This disruption leads to the accumulation of toxic compounds and deficiency of essential metabolites, resulting in widespread metabolic and neurological dysfunction.

Causes

Zellweger syndrome is caused by mutations in genes responsible for peroxisome formation or function. These mutations impair the organelle's ability to perform its metabolic roles, leading to the buildup of substances like very long-chain fatty acids or the deficiency of plasmalogens, which are vital for brain and lung function.

Risk Factors

• Family history of peroxisome biogenesis disorders due to autosomal recessive inheritance.
• Consanguineous relationships (parents who are closely related).

Symptoms

• Severe developmental delays or regression.
• Muscle weakness or hypotonia.
• Seizures or abnormal eye movements.
• Liver dysfunction or enlarged liver.
• Abnormal facial features (e.g., high forehead, flattened nasal bridge).
• Vision or hearing impairment.

Diagnosis

Diagnosis involves biochemical testing to measure levels of very long-chain fatty acids, plasmalogens, or other peroxisomal metabolites in blood or urine. Genetic testing may confirm specific mutations, and imaging studies may assess organ involvement.

Treatment Options

Treatment focuses on managing symptoms and complications, such as seizure control, nutritional support, and addressing liver or vision issues. No cure exists, and care is supportive.

Prognosis and Follow-Up

Prognosis is poor, with most affected individuals not surviving beyond the first year of life. Follow-up involves regular monitoring of organ function, developmental progress, and supportive care adjustments.

Complications

• Severe neurological impairment.
• Liver failure.
• Respiratory complications.
• Vision or hearing loss.

Lifestyle & Prevention

Genetic counseling is recommended for families with a history of peroxisome biogenesis disorders. Prenatal testing may be considered for at-risk pregnancies.

When to Seek Professional Help

Seek immediate medical attention for symptoms like seizures, severe lethargy, or unexplained organ dysfunction in infants.

Tips for Medical Coders

Use code E71.510 for Zellweger syndrome. Ensure documentation supports the diagnosis, including clinical findings, biochemical test results, or genetic confirmation. Avoid using this code for unspecified peroxisomal disorders or other subtypes.