# Child with sitosterolemia initially presenting with hemolytic anemia and thrombocytopenia: a case repore and literrature review

## TL;DR

A child with sitosterolemia was initially misdiagnosed due to presenting with hemolytic anemia and thrombocytopenia, highlighting the need for comprehensive diagnostic approaches.

## Contribution

This case report highlights the diagnostic challenges of sitosterolemia and emphasizes the importance of molecular and biochemical analysis for accurate diagnosis.

## Key findings

- The child was found to have a homozygous mutation in the ABCG5 gene, confirming sitosterolemia.
- Initial misdiagnosis as pyruvate kinase deficiency underscores the non-specific clinical presentation of sitosterolemia.
- The case emphasizes the need for clinicians to consider rare lipid metabolism disorders in patients with hemolytic anemia and thrombocytopenia.

## Abstract

报道1例表现为溶血性贫血和血小板减少的儿童谷固醇血症病例。谷固醇血症是一种罕见的常染色体隐性脂质代谢障碍，由于其非典型临床表现，诊断具有挑战性。研究强调了识别此病的重要性，尤其是在表现为溶血性贫血和血小板减少的患者中。案例涉及1例最初被误诊为丙酮酸激酶缺乏的8岁儿童。进行了详细的生化和分子分析，包括基因测序。结果显示ABCG5基因的纯合突变，确诊为谷固醇血症。这一病例强调了需要综合诊断方法和提高临床的认识。通过分析1例儿童病例，展示了谷固醇血症的复杂性和诊断难度。这名8岁儿童最初被误诊为丙酮酸激酶缺乏症，后经过全面的生化和分子生物学分析，包括基因测序，最终确诊为谷固醇血症。该病例表明，对于表现为溶血性贫血和血小板减少的患者，医生需要考虑更广泛的诊断可能性，以减少误诊。这一研究强调了对谷固醇血症的认识和准确诊断的重要性。