Diagnosis and treatment of children sitosterolemia caused by ABCG5 gene mutation：a case report and literatures review

Abstract:

Objective：To investigate the clinical characteristics of children sitosterolemia and its treatment，and to conduct the litera－ture review. Methods：In November 2018， a Chinese boy who presented as cutaneous xanthomatos for 9 months was admitted. Retro－spective analysis was conducted to collect his clinical case data and the clinical characteristics and treatment were summarized. Key words of “sitosterolemia”“xanthoma”，“phytosterol”，“hypercholesterolemia” and “ABCG5 gene” both in Chinese and English were retrieved and sitosterolemia literatures reviews were collected from China national knowledge infrastructure database and PubMed literatures database；the clinical characteristics of sitosterolemia from these literatures were summarized. Results：This patient presented with xanthoma and hyperlipidemia and diagnosed with sitosterolemia caused by ABCG5 gene mutation. After a 3-month dietary of strict phytosterol and animal sterol restrictions，the serum level of LC and LDH-C were significantly reduced，almost to the normal range. Skin xanthoma had no changes and some lipomas were going to be enlarged. Conclusion：The clinical features of sitos－terolemia are heterogeneous and xanthomas may be one specific feature. Therefore，pediatricians should enhance knowledge of this disease，avoiding missed diagnosis and misdiagnosis.