-
British Journal of Haematology Jun 1997
Topics: Fat Emulsions, Intravenous; Humans; Parenteral Nutrition; Sea-Blue Histiocyte Syndrome
PubMed: 9207427
DOI: No ID Found -
The Journal of Laboratory and Clinical... Nov 1971
Topics: Bone Marrow Cells; Erythrocytes; Female; Histiocytes; Humans; Lipid Metabolism; Lipidoses; Lipids; Male; Staining and Labeling
PubMed: 4108510
DOI: No ID Found -
European Journal of Clinical... Aug 1978Deficient leucocyte sphingomyelinase activity has been demonstrated in a patient with the sea-blue histiocyte syndrome. Family studies revealed that two other cases...
Deficient leucocyte sphingomyelinase activity has been demonstrated in a patient with the sea-blue histiocyte syndrome. Family studies revealed that two other cases previously diagnosed on clinical and histochemical criteria also had a pronounced diminution of sphingomyelinase activity. Both parents of the affected individuals were carriers of the disease as indicated by sphingomyelinase activity intermediate between normal and diseased subjects. Additional heteroxygous carriers were found among the siblings and other relatives of the patients. This family study supports further the hypothesis that the sea-blue histiocyte syndrome and chronic Niemann-Pick (Type B) disease are the same.
Topics: Adolescent; Adult; Female; Histiocytes; Humans; Infant; Leukocytes; Male; Microscopy, Electron; Niemann-Pick Diseases; Pedigree; Sphingomyelin Phosphodiesterase
PubMed: 100330
DOI: 10.1111/j.1365-2362.1978.tb00860.x -
Developmental Neuroscience 1991Niemann-Pick type C disease diagnosed in adult neurology departments may be infantile or juvenile forms with prolonged life span or forms starting at adolescence or... (Review)
Review
Niemann-Pick type C disease diagnosed in adult neurology departments may be infantile or juvenile forms with prolonged life span or forms starting at adolescence or adulthood. The evolution is generally slower compared to the infantile cases. Psychomotor retardation is practically constant. Cerebellar ataxia and extrapyramidal manifestations are often found in opposition to pyramidal symptoms. Supranuclear ophthalmoplegia with a down-gaze failure is nearly constant. Cataplexy and other types of seizures may be found during the evolution of the disease. In some cases a psychosis may be the only manifestation for several years; the treatment by psychotropic drugs raises the question of a superimposition of a drug-induced lipidosis. Hepatosplenomegaly is often discrete, contrary to infantile cases. Foam cells or sea-blue histiocytes are a general feature of the disease. Although the primary defect is unknown, diagnosis must be confirmed by the defect in cholesterol esterification from exogenous cholesterol.
Topics: Cerebellar Ataxia; Cholesterol; Dystonia; Female; Foam Cells; Hepatomegaly; Histiocytes; Humans; Intellectual Disability; Male; Niemann-Pick Diseases; Ophthalmoplegia; Psychotic Disorders; Sea-Blue Histiocyte Syndrome; Seizures; Splenomegaly
PubMed: 1817035
DOI: 10.1159/000112177 -
Acta Haematologica 2015
Topics: Bone Marrow; Chronic Disease; Humans; Middle Aged; Sea-Blue Histiocyte Syndrome; Thrombocytopenia
PubMed: 25413372
DOI: 10.1159/000366189 -
Indian Journal of Pathology &... Jul 2005Primary sea-blue histiocytosis is a rare syndrome. Secondary or acquired sea-blue histiocytosis occurs in a wide array of hematologic and systemic disorders, rarely...
Primary sea-blue histiocytosis is a rare syndrome. Secondary or acquired sea-blue histiocytosis occurs in a wide array of hematologic and systemic disorders, rarely these cells have been found in cases of thalassemia. A case of sea-blue histiocytosis in a patient of thalassemia is being reported for its rarity.
Topics: Biopsy, Needle; Bone Marrow; Child; Female; Humans; Sea-Blue Histiocyte Syndrome; beta-Thalassemia
PubMed: 16761752
DOI: No ID Found -
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 Medical Journal of Malaysia Dec 2000A 27-year-old Indian woman at 23 weeks' gestation presented with decompensated liver cirrhosis, coagulopathy, restrictive lung disease with cor pulmonale and...
A 27-year-old Indian woman at 23 weeks' gestation presented with decompensated liver cirrhosis, coagulopathy, restrictive lung disease with cor pulmonale and preeclampsia. She was diagnosed to have sea-blue histiocyte syndrome (SBHS) at the age of 13 years and was treated conservatively. There was worsening liver, respiratory and bone marrow function as the pregnancy progressed. She underwent a successful pregnancy despite her poor medical condition and advanced disease state. We described the first case of familial SBHS in a pregnant patient from Asia.
Topics: Adult; Female; Histiocytes; Humans; Infant, Newborn; Male; Pregnancy; Pregnancy Complications; Pregnancy Outcome; Sea-Blue Histiocyte Syndrome; Spleen
PubMed: 11221166
DOI: No ID Found -
Clinical and Laboratory Haematology Sep 1997A 22-year-old female on chronic total parenteral nutrition for short bowel syndrome presented for investigation of pancytopaenia and hepatosplenomegaly. Bone marrow...
A 22-year-old female on chronic total parenteral nutrition for short bowel syndrome presented for investigation of pancytopaenia and hepatosplenomegaly. Bone marrow examination revealed an infiltrate of sea-blue histiocytes and cytochemistry confirmed these to be lipid laden macrophages. The total amount of fat in the feeding regimen was subsequently reduced, and there has been a partial haematological improvement. The occurrence of sea-blue histiocyte syndrome complicating the fat emulsion component of chronic total parenteral nutrition has been reported recently. To our knowledge this report is the first where reduction in the lipid content of the feeding regimem has resulted in an improvement in the degree of pancytopaenia.
Topics: Adult; Female; Humans; Pancytopenia; Parenteral Nutrition, Total; Sea-Blue Histiocyte Syndrome; Time Factors
PubMed: 9352150
DOI: No ID Found -
Journal of the American Academy of... Feb 2007Histiocytoses are a heterogeneous group of disorders that are characterized by the proliferation and accumulation of reactive or neoplastic histiocytes. Three classes of... (Review)
Review
Histiocytoses are a heterogeneous group of disorders that are characterized by the proliferation and accumulation of reactive or neoplastic histiocytes. Three classes of histiocytoses have been defined: class I, Langerhans cell disease; class II, non-Langerhans cell histiocytic disease without features of malignancy; and class III, malignant histiocytic disorders. Although the disorders in classes I and II usually have a benign appearance on histology and are commonly non-aggressive and self-healing, some can cause debilitating or even fatal outcomes. Such cases beg the question: what stimulates aggressive behavior of a classically benign disease? New molecular information may now provide insight into the driving force behind many of the aggressive histiocytoses. In this article, we review Langerhans cell disease and seven aggressive histiocytoses that can involve skin, discuss histologic features that may forecast a poor prognosis, and discuss the molecular findings that help to explain the pathophysiology of these aggressive histiocytic disorders.
Topics: Histiocytosis; Histiocytosis, Langerhans-Cell; Histiocytosis, Non-Langerhans-Cell; Humans; Lymphohistiocytosis, Hemophagocytic; Necrobiotic Disorders; Prognosis; Sea-Blue Histiocyte Syndrome; Skin Diseases; Xanthogranuloma, Juvenile
PubMed: 17097374
DOI: 10.1016/j.jaad.2006.06.010