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Annales de Pathologie Mar 2024A 78-year-old woman with hypertrophic cardiomyopathy underwent a septal myomectomy and valve replacement. In the immediate postoperative period she developed shock of...
A 78-year-old woman with hypertrophic cardiomyopathy underwent a septal myomectomy and valve replacement. In the immediate postoperative period she developed shock of mixed etiology and died. At autopsy, hepatomegaly and splenomegaly were identified, with PAS and Giemsa positive intracellular ceroid granular deposits. Sea-blue histiocytosis is an extremely rare, chronic and benign deposit disease. It is characterized by hepatosplenomegaly, thrombocytopenia and lymphadenopathy. The presence of ceroid substance in granules in PAS and Giemsa stains should establish the diagnosis of suspicion.
Topics: Female; Humans; Aged; Sea-Blue Histiocyte Syndrome; Ceroid; Splenomegaly; Hepatomegaly
PubMed: 37865572
DOI: 10.1016/j.annpat.2023.10.001 -
Nigerian Journal of Clinical Practice Nov 2019Budd-Chiari syndrome (BCS) is a rare disease characterized by obstruction of hepatic venous outflow tract with diversified etiologies. Sea-blue histiocytosis (SBH) is a...
Budd-Chiari syndrome (BCS) is a rare disease characterized by obstruction of hepatic venous outflow tract with diversified etiologies. Sea-blue histiocytosis (SBH) is a kind of storage diseases defined by the deposition of abundant sea-blue histiocytes in various organs and can lead to hepatosplenomegaly, cirrhosis, or even liver failure. The association between BCS and SBH has never been reported before. Here, we report a patient with BCS presenting with hepatosplenomegaly, portal hypertension, and pancytopenia who was later confirmed to also have SBH.
Topics: Adult; Budd-Chiari Syndrome; Hepatomegaly; Humans; Hypertension, Portal; Male; Pancytopenia; Rare Diseases; Sea-Blue Histiocyte Syndrome; Splenomegaly; Vena Cava, Inferior
PubMed: 31719286
DOI: 10.4103/njcp.njcp_43_19 -
Haematologica Jan 2021
Topics: Bone Marrow; Humans; Sea-Blue Histiocyte Syndrome
PubMed: 33386710
DOI: 10.3324/haematol.2020.273755 -
Annales de Biologie Clinique Aug 2020
Topics: Anemia; Bone Marrow; Cognitive Dysfunction; Female; Histiocytes; Humans; Middle Aged; Mobility Limitation; Niemann-Pick Disease, Type C; Sea-Blue Histiocyte Syndrome; Weight Loss
PubMed: 32616471
DOI: 10.1684/abc.2020.1569 -
Indian Journal of Pathology &... 2020Sea-blue histiocytes in bone marrow can be associated with a number of conditions and have indeed often been reported in Niemann-Pick diseases, mostly in Niemann-Pick...
Sea-blue histiocytes in bone marrow can be associated with a number of conditions and have indeed often been reported in Niemann-Pick diseases, mostly in Niemann-Pick type B, but also Niemann-Pick type C. Rarely, it was reported to be related to a progressive neurological condition. In this work, early bone marrow aspirations in a boy following the discovery of hepatosplenomegaly at 1 month of age and later isolated splenomegaly did not reveal abnormal cells (which is not uncommon). Numerous sea-blue histiocytes were found in a repeated exam when the child was 10-year old, at a time he had developed a progressive neurological condition with frequent falls, clumsiness, slow and slurred speech, intellectual disability, dystonic movements, and dysphagia. Acquired sea-blue histiocytes should be considered initially on the basis of clinical symptoms. Whole-exome sequencing identified two variants in the NPC1 gene, leading to the diagnosis of Niemann-Pick type C1. This case points out the presence of sea-blue histiocytes in the bone marrow and has helped to reach a diagnosis of NPC1 which was very difficult to establish even after years of study. Given the rarity of this pathology and the variety of clinical presentations, it is important to communicate the possible forms of presentation of this syndrome.
Topics: Bone Marrow; Bone Marrow Cells; Child; Histiocytes; Humans; Intracellular Signaling Peptides and Proteins; Male; Mutation; Nervous System Diseases; Niemann-Pick C1 Protein; Niemann-Pick Disease, Type C; Sea-Blue Histiocyte Syndrome; Splenomegaly; Exome Sequencing
PubMed: 32317543
DOI: 10.4103/IJPM.IJPM_728_19 -
The Journal of Pediatric Pharmacology... 2015A syndrome of hepatosplenomegaly, thrombocytopenia, and anemia and the presence of sea-blue histiocytes in bone marrow has been associated with parenteral soybean oil...
A syndrome of hepatosplenomegaly, thrombocytopenia, and anemia and the presence of sea-blue histiocytes in bone marrow has been associated with parenteral soybean oil administration in patients receiving long-term total parenteral nutrition (TPN). A case is described here where this syndrome was observed in a pediatric patient who received long-term parenteral fish oil nutrition.
PubMed: 26170774
DOI: 10.5863/1551-6776-20.3.217 -
American Journal of Hematology May 2024Bone marrow smear showing histiocytes (black arrow) containing sea blue granules stained with May-Grünwald Giemsa.
Bone marrow smear showing histiocytes (black arrow) containing sea blue granules stained with May-Grünwald Giemsa.
Topics: Humans; Sea-Blue Histiocyte Syndrome; Pancytopenia; Parenteral Nutrition; Histiocytes
PubMed: 38115676
DOI: 10.1002/ajh.27185 -
Acta Haematologica 2015
Topics: Bone Marrow; Chronic Disease; Humans; Middle Aged; Sea-Blue Histiocyte Syndrome; Thrombocytopenia
PubMed: 25413372
DOI: 10.1159/000366189