[Sea-blue histiocyte syndrome (author's transl)]

Area of Science:

• Lipid metabolism disorders
• Histiocytosis
• Biochemical genetics

Context:

• Review of literature published before October 1977 on sea-blue histiocyte syndrome.
• Morphological characteristics: large histiocytes with sea-blue intracytoplasmic granules in reticuloendothelial system organs.
• Potential accumulation of gluco- and/or phosphosphingolipids, primarily sphingomyelin.

Purpose:

• To review the existing literature on the sea-blue histiocyte syndrome.
• To describe the morphological, biochemical, and clinical features of the condition.
• To highlight the unresolved aspects of the syndrome's etiology and pathophysiology.

Summary:

• Sea-blue histiocyte syndrome is a lipid thesaurismosis identified by characteristic sea-blue histiocytes.
• Etiology is suspected to involve sphingomyelin accumulation due to partial sphingomyelinase deficiency.
• Observed as both acquired and primary (sporadic or familial) conditions.
• Clinical spectrum includes hepatosplenomegaly, neurological symptoms, liver cirrhosis, bleeding diathesis, and respiratory issues.
• Prognosis is generally benign but poorer with early-onset and neurological manifestations.

Impact:

• Contributes to the understanding of rare lipid storage diseases.
• Highlights the need for further research into the precise biochemical defect and accumulated substance.
• Informs clinical diagnosis and management strategies for patients presenting with sea-blue histiocytes.