Sea-blue histiocytosis is one of the six types of Niemann-Pick disease. It is characterized by childhood onset of hepatosplenomegaly, lack of neurological involvement and diminished sphingomyelinase activity. Pulmonary system is rarely involved sea-blue histiocytosis. In this paper, we present a 39-years-old male who had previously diagnosed as sea-blue histiocytosis at the age of 15. He was admitted to our clinic due to productive cough, hemoptysis, fever and weight loss. His symptoms did not resolve with the antibiotic treatment and further investigations revealed pulmonary involvement of sea-blue histiocytosis. After diagnostic bronchoalveolar lavage, his symptoms were improved, interestingly. This rare entity was discussed with literature survey.
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http://dx.doi.org/10.5578/tt.2215 | DOI Listing |
Pathol Res Pract
November 2024
Department of Pathology, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan. Electronic address:
Am J Hematol
May 2024
Service d'Hématologie Biologique, Hôpital Beaujon, AP-HP Nord Université de Paris, Clichy, France.
Bone marrow smear showing histiocytes (black arrow) containing sea blue granules stained with May-Grünwald Giemsa.
View Article and Find Full Text PDFAnn Pathol
March 2024
Pediatric Surgery Department, Complejo Asistencial Universitario de León, León, Spain.; Hospital Universitario de Navarra, Pamplona, Navarra, Spain. Electronic address:
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.
View Article and Find Full Text PDFBMC Med Genomics
September 2022
Graduate School of Clinical Medicine, Bengbu Medical College, Bengbu, 233000, Anhui Province, China.
Background: The chronic visceral subtype of acid sphingomyelinase deficiency, commonly known as Niemann Pick disease type B (NPDB), is a relatively rare autosomal recessive genetic disorder that is caused by mutations in the SMPD1 gene. NPDB with sea-blue histiocytes (SBH) clinically mimics Budd-Chiari syndrome (BCS), as it lacks specific clinical characteristics. This makes its diagnosis difficult.
View Article and Find Full Text PDFAm J Blood Res
February 2021
Osaka General Hospital of West Japan Railway Company 1-2-22 Matsuzaki-cho, Abeno-ku, Osaka 545-0053, Japan.
Although isolated trisomy 9, a form of chromosome aneuploidy, is rare in acute myeloid leukemia (AML), up to 30 cases of AML involving isolated trisomy 9 have been reported to date. We report the case of a 77-year-old female with AML, in which trisomy 9 was detected as an isolated aberration. In addition, the patient's bone marrow displayed so-called sea-blue histiocytosis.
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