Zellweger syndrome
ICD-10 E71.510 is a billable code used to indicate a diagnosis of zellweger syndrome.
Zellweger syndrome is a rare genetic disorder characterized by the absence of functional peroxisomes in the cells, leading to severe metabolic dysfunction. It is classified as a peroxisomal biogenesis disorder, primarily caused by mutations in genes responsible for peroxisome assembly. Clinically, patients present with a range of symptoms including hypotonia, developmental delays, seizures, and distinctive facial features such as a high forehead and broad nasal bridge. Other manifestations may include liver dysfunction, renal anomalies, and hearing loss. The disorder typically presents in infancy and is associated with a poor prognosis, with most affected individuals not surviving beyond early childhood. Diagnosis is often confirmed through biochemical testing that reveals elevated levels of very long-chain fatty acids and phytanic acid in the blood, alongside genetic testing to identify specific mutations. Management is supportive, focusing on symptomatic treatment and early intervention to address developmental delays. Due to its genetic basis, genetic counseling is recommended for affected families.
Detailed family history and genetic test results must be documented.
Genetic counseling sessions for families with a history of metabolic disorders.
Ensure accurate coding of genetic tests performed and results obtained.
Comprehensive developmental assessments and symptom tracking.
Routine follow-ups for developmental milestones in affected children.
Document all co-morbidities and interventions to support coding accuracy.
Used when confirming a diagnosis of Zellweger syndrome through genetic testing.
Document the specific tests performed and results.
Genetic specialists should ensure accurate coding of tests performed.
The prognosis for patients with Zellweger syndrome is generally poor, with most affected individuals not surviving beyond early childhood. Management focuses on supportive care and addressing specific symptoms.
