Sanfilippo 综合征病例报告——漫长的诊断之路。
A case report of Sanfilippo syndrome - the long way to diagnosis.
机构信息
Center for Rare Diseases, University Hospital of Wuerzburg, Josef-Schneider-Strasse 2, 97080, Wuerzburg, Germany.
University Children's Hospital Wuerzburg, University Hospital of Wuerzburg, Josef-Schneider- Strasse 2, 97080, Wuerzburg, Germany.
出版信息
BMC Neurol. 2022 Mar 15;22(1):93. doi: 10.1186/s12883-022-02611-7.
BACKGROUND
Mucopolysaccharidosis type III (Sanfilippo syndrome) is a lysosomal storage disorder, caused by a deficiency in the heparan-N-sulfatase enzyme involved in the catabolism of the glycosaminoglycan heparan sulfate. It is characterized by early nonspecific neuropsychiatric symptoms, followed by progressive neurocognitive impairment in combination with only mild somatic features. In this patient group with a broad clinical spectrum a significant genotype-phenotype correlation with some mutations leading to a slower progressive, attenuated course has been demonstrated.
CASE PRESENTATION
Our patient had complications in the neonatal period and was diagnosed with Mucopolysaccharidosis IIIa only at the age of 28 years. He was compound heterozygous for the variants p.R245H and p.S298P, the latter having been shown to lead to a significantly milder phenotype.
CONCLUSIONS
The diagnostic delay is even more prolonged in this patient population with comorbidities and a slowly progressive course of the disease.
背景
黏多糖贮积症 III 型（Sanfilippo 综合征）是一种溶酶体贮积症，由参与糖胺聚糖硫酸乙酰肝素分解代谢的肝素-N-硫酸酯酶缺乏引起。其特征为早期非特异性神经精神症状，随后进行性神经认知功能障碍，同时仅有轻微的躯体特征。在具有广泛临床表现的这组患者中，已证明存在与某些突变相关的显著基因型-表型相关性，这些突变导致进展更缓慢、病情减轻。
病例介绍
我们的患者在新生儿期出现并发症，直到 28 岁时才被诊断为黏多糖贮积症 IIIa 型。他是 p.R245H 和 p.S298P 两种变异的复合杂合子，后者已被证明导致明显较轻的表型。
结论
在伴有合并症和疾病进展缓慢的患者群体中，诊断延迟更为延长。
Zotero 插件