Suspected Niemann-Pick disease type B with sea-blue histiocytosis after splenectomy: A rare case report.

Journal of clinical lipidology 2026

Liu W, Qin L, Wang G

Abstract

BACKGROUND: Niemann-Pick disease (NPD) is a rare autosomal recessive lysosomal storage disorder caused by acid sphingomyelinase (ASM) deficiency, resulting in progressive lipid accumulation in multiple cell types and organs. OBJECTIVE: To describe a rare case of suspected NPD type B with secondary sea-blue histiocytosis and to explore its diagnostic implications. METHODS: Comprehensive clinical and laboratory evaluations were conducted to assess the patient’s condition. RESULTS: We report a rare case of Niemann-Pick disease type B accompanied with secondary sea-blue histiocytosis in a 32-year-old woman who had previously undergone splenectomy for congenital splenomegaly. She presented with abdominal distension, poor appetite and abdominal pain. Clinical evaluations revealed decompensated cirrhosis with no neurologic abnormalities. Transjugular liver biopsy demonstrated foamy cells infiltration, while bone marrow examination identified sea-blue histiocytes (approximately 4.5% of nucleated cells) and Niemann-Pick cells (approximately 2.5%). Although acid sphingomyelinase activity testing and SMPD1 sequencing were recommended, the patient declined further evaluation for financial reasons. CONCLUSION: This case highlights the significance of considering acid sphingomyelinase deficiency in patients with cryptogenic cirrhosis and underscores the diagnostic value of histopathology when definitive gene or enzyme testing is unavailable. It also raises the possibility that prior splenectomy may influence the clinical presentation of the disease.

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