Scholarlink

<p>A 15-year-old female presented with recurrent fever, hepatosplenomegaly, and pancytopenia. Bone marrow aspiration revealed numerous ‘sea-blue histiocytes’, raising suspicion for sea-blue histiocyte syndrome. Diagnosis was confirmed as Niemann-Pick disease based on the identification of a compound heterozygous mutation in the <i>SMPD1 </i>gene. This case highlights that the finding of sea-blue histiocytes in the marrow is a crucial clue for diagnosing Niemann-Pick disease, particularly type B.</p>

错误：搜索内容不能为空，请输入英文关键词
错误：关键词超出字数限制，请精简
高级检索

Niemann-Pick Disease Mimicking Sea-Blue Histiocyte Syndrome: A Diagnostic Pitfall

  • 期刊论文

  • 发表日期：

    2026年3月31日

查看全文
  • Huang Huang,
  • Xuebing Qiu,
  • Cuihua Ma,
  • Hongwei Chen

摘要

A 15-year-old female presented with recurrent fever, hepatosplenomegaly, and pancytopenia. Bone marrow aspiration revealed numerous ‘sea-blue histiocytes’, raising suspicion for sea-blue histiocyte syndrome. Diagnosis was confirmed as Niemann-Pick disease based on the identification of a compound heterozygous mutation in the SMPD1 gene. This case highlights that the finding of sea-blue histiocytes in the marrow is a crucial clue for diagnosing Niemann-Pick disease, particularly type B.