新生儿史密斯-莱姆利-奥皮茨综合征伴发育异常和内源性胆固醇水平低。
Smith-Lemli-Opitz Syndrome in a newborn infant with developmental abnormalities and low endogenous cholesterol.
机构信息
Department of Pathology, Pritzker School of Medicine, The University of Chicago, United States.
Department of Pathology, Pritzker School of Medicine, The University of Chicago, United States.
出版信息
Clin Chim Acta. 2018 Apr;479:208-211. doi: 10.1016/j.cca.2018.01.027. Epub 2018 Jan 31.
BACKGROUND
Patients with Smith-Lemli-Opitz Syndrome (SLOS) have defective endogenous cholesterol synthesis, and present with decreased cholesterol levels and multiple developmental dysmorphologies.
CASE DESCRIPTION
A newborn infant with normal XY karyotype and normal microarray was born with multiple developmental defects and ambiguous genitalia. The patient was diagnosed with SLOS, following biochemical genetic analysis of serum 7-DHC concentrations. The clinical course of the patient was further complicated by the comorbidities associated with SLOS and the bacterial infections.
CONCLUSION
We provide a detailed biochemical profile of the SLOS patient. The report can help us further understand the pathological impacts of cholesterol synthesis deficiency and provide relevant clinical management with outcome of this rare genetic disorder.
背景
Smith-Lemli-Opitz 综合征（SLOS）患者内源胆固醇合成缺陷，胆固醇水平降低，表现为多种发育畸形。
病例描述
一名新生儿，核型为正常 XY，微阵列正常，存在多种发育缺陷和生殖器模糊。患者血清 7-DHC 浓度生化遗传分析后，诊断为 SLOS。该患者的临床病程进一步复杂化，与 SLOS 相关的合并症和细菌感染。
结论
我们提供了 SLOS 患者的详细生化特征。该报告有助于我们进一步了解胆固醇合成缺陷的病理影响，并提供相关的临床管理，改善这种罕见遗传疾病的预后。
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