Wang Yuming, Zhou Wenjing, Du Changqing, Tang Yimin, Zhu Kefu
Department of Geriatrics, the First Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou, Zhejiang Province, 310003, China.
Zhejiang Key Laboratory for Diagnosis and Treatment of Physic-chemical and Aging-related Injuries, 310000, Hangzhou, China.
BMC Neurol. 2025 Aug 13;25(1):330. doi: 10.1186/s12883-025-04354-7.
Sanfilippo A Syndrome (mucopolysaccharidosis [MPS] IIIA), an inherited lysosomal storage disorder, is mainly characterized by central nervous system degeneration that is characterized by neurocognitive decline and typically results in early death. Some Sanfilippo A Syndrome patients have heart diseases, which are typically not severe. Moreover, there have been no reported cases of patients with Sanfilippo A Syndrome who also have sick sinus syndrome (SSS).
This case describes a 44-year-old woman with a history of a preliminary clinical diagnosis of MPS. She had a mild respiratory infection and promptly recovered. Nevertheless, upon arriving at our hospital, she was found to have severe and persistent bradycardia. We conducted a detailed examination of her. The electrocardiogram monitoring revealed frequent sinus arrest with the maximum R-R interval of 5.47 s. Brain CT scan and cranial MRI showed global brain atrophy and ventricular enlargement. The urinary glycosaminoglycans level was 3.88 ± 0.11 ng/ml. The level of N - sulfoglucosamine sulfohydrolase (SGSH) enzyme activity was significantly reduced, and gene sequencing identified a heterozygous G > A change in the gene at nucleotide c.1063G > A. The diagnosis of SSS co-occurring with Sanfilippo A Syndrome was established.
This is the first reported case of SSS in an adult with Sanfilippo A Syndrome. This case suggests SSS may be a potential associated feature of Sanfilippo A Syndrome.
The online version contains supplementary material available at 10.1186/s12883-025-04354-7.
桑菲利波综合征A（黏多糖贮积症[MPS]IIIA型）是一种遗传性溶酶体贮积症，主要特征为中枢神经系统退化，表现为神经认知功能下降，通常导致早亡。部分桑菲利波综合征A患者患有心脏病，通常并不严重。此外，尚无桑菲利波综合征A患者同时患有病态窦房结综合征（SSS）的病例报道。
本病例描述了一名44岁女性，初步临床诊断为MPS。她曾患轻度呼吸道感染，很快康复。然而，到我院就诊时，发现她患有严重且持续的心动过缓。我们对她进行了详细检查。心电图监测显示频繁窦性停搏，最大R-R间期为5.47秒。脑部CT扫描和头颅MRI显示全脑萎缩和脑室扩大。尿糖胺聚糖水平为3.88±0.11 ng/ml。N-磺基葡糖胺硫酸酯酶（SGSH）酶活性水平显著降低，基因测序确定在核苷酸c.1063G>A处基因存在杂合性G>A改变。确诊为桑菲利波综合征A合并SSS。
这是首例报道的成年桑菲利波综合征A患者合并SSS的病例。该病例提示SSS可能是桑菲利波综合征A的一个潜在相关特征。
在线版本包含可在10.1186/s12883-025-04354-7获取的补充材料。
