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Background <p>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).</p> Case presentation <p>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&#xa0;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 &gt; A change in the <i>SGSH</i> gene at nucleotide c.1063G &gt; A. The diagnosis of SSS co-occurring with Sanfilippo A Syndrome was established.</p> Conclusions <p>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.</p>

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The first case of sick sinus syndrome with an adult Sanfilippo A syndrome: a case report with review of literature

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  • 发表日期：

    2025年8月13日

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  • Yuming Wang,
  • Wenjing Zhou,
  • Changqing Du,
  • Yimin Tang,
  • Kefu Zhu

摘要

Background

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).

Case presentation

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 SGSH gene at nucleotide c.1063G > A. The diagnosis of SSS co-occurring with Sanfilippo A Syndrome was established.

Conclusions

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.