Compound Heterozygous ABCG5 Mutations Confirm Sitosterolemia in a Patient Initially Reported as Necrobiotic Xanthogranuloma: A Final Diagnosis

Key Points

• To clarify the diagnosis of sitosterolemia through genetic analysis of ABCG5 mutations in a patient initially misdiagnosed.
• Genetic testing performed to identify mutations in the ABCG5 gene.
• Clinical evaluation of the patient’s symptoms and medical history.
• Analysis of patient records to track diagnosis history.
• Identification of compound heterozygous mutations in ABCG5 confirming sitosterolemia.
• Previous misdiagnosis of necrobiotic xanthogranuloma highlighted.
• Genetic findings align with symptoms consistent with sitosterolemia.