Wilson disease with hepatic presentation in an eight-month-old boy

Area of Science:

• Genetics
• Metabolic Disorders
• Pediatrics

Background:

• Wilson disease is an inherited autosomal recessive disorder affecting copper metabolism.
• Untreated Wilson disease can lead to severe neurological and hepatic complications.
• Early diagnosis and intervention are crucial for managing Wilson disease.

Observation:

• An 8-month-old Chinese boy presented with elevated liver enzymes and low serum ceruloplasmin.
• Genetic analysis identified two heterozygous mutations in the ATP7B gene (c.2621C>T/p.A874V and c.3809A>G/p.N1270S).
• This case represents the youngest reported patient with elevated liver enzymes due to Wilson disease.

Findings:

• The patient's persistent elevation of serum aminotransferase normalized after zinc therapy.
• Genetic testing confirmed compound heterozygous mutations in the ATP7B gene.
• Parental origin of the mutations was established.

Implications:

• This case underscores the importance of early Wilson disease diagnosis in infants presenting with liver enzyme abnormalities.
• Increased pediatrician awareness can lead to timely diagnosis and treatment, improving patient outcomes.
• Zinc therapy demonstrated efficacy in normalizing liver enzymes in this young patient.