Zellweger-like syndrome
ICD-10 E71.541 is a billable code used to indicate a diagnosis of zellweger-like syndrome.
Zellweger-like syndrome is a rare genetic disorder characterized by a deficiency in peroxisomal biogenesis, leading to a spectrum of metabolic dysfunctions. This condition is part of the group of peroxisomal disorders, which are caused by mutations in genes responsible for the formation and function of peroxisomes, organelles that play a crucial role in lipid metabolism and the detoxification of reactive oxygen species. Patients with Zellweger-like syndrome often present with a combination of neurological impairment, hepatic dysfunction, and distinctive facial features. Common clinical manifestations include hypotonia, developmental delays, seizures, and liver abnormalities. The syndrome is typically diagnosed in infancy, and affected individuals may exhibit a range of symptoms that can vary in severity. Due to the complexity of the metabolic pathways involved and the overlap with other peroxisomal disorders, accurate diagnosis and coding are essential for appropriate management and treatment. Genetic testing can confirm the diagnosis, and management often involves supportive care and monitoring for associated complications.
Detailed family history, genetic test results, and clinical findings.
Evaluation of infants with developmental delays and metabolic abnormalities.
Ensure genetic testing results are clearly documented to support the diagnosis.
Growth and developmental assessments, neurological evaluations, and metabolic screening results.
Management of infants presenting with hypotonia and seizures.
Document all clinical findings and interventions to support the diagnosis and treatment plan.
Used when genetic confirmation of Zellweger-like syndrome is required.
Document the rationale for testing and results.
Genetics specialists should ensure comprehensive documentation of family history and clinical findings.
Common symptoms include hypotonia, developmental delays, seizures, liver dysfunction, and distinctive facial features. The severity of symptoms can vary widely among affected individuals.
