Secondary Sea-Blue Histiocytosis in a Patient with Transfusion Dependent HbE-Beta Thalassaemia and Osteosarcoma

Bakheet, Omayma Saad Eldeen; Yusof, Nurasyikin; Zahratul, Azma Raja; Ithnin, Azlin; Aziz, Siti Asma Che; Alias, Hamidah

doi:10.1007/s12288-015-0582-6

Cited by 3 publications

(3 citation statements)

References 15 publications

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“…Sea-blue histiocytes can represent a rare primary disease, or a secondary finding in other conditions. Along with foam cells, they can be seen in diseases with high cell turnover, thrombocytopenia, and splenomegaly such as leukemia, polycythemia vera, and myelodysplastic syndrome, and in lipid and lysosomal disorders, such as NP-C and Gaucher disease [ 26 , 27 ].…”

Section: Discussionmentioning

confidence: 99%

Supranuclear Palsy as an Initial Presentation of the Adult-Onset Niemann-Pick Type C

Mohamed,

Gan,

Babici

et al. 2024

Neurology International

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(1) Background: Niemann–Pick type C1 (NP-C1) is a lysosomal storage disorder that results in the defective trafficking of cholesterol and other cellular lipids in the endosomal–lysosomal pathway. This rare autosomal recessive disorder presents in three forms based on the age of onset. The adult form presents in patients greater than 15 years of age but is rarely seen after the age of 30. Common symptoms of the late adult-onset category of NP-C1 include progressive cognitive impairment and ataxia, with psychiatric and movement disorders presenting less frequently than in other forms of NP-C1. Dystonic movement disorders present most frequently, along with chorea, myoclonus, and parkinsonism. Herein, we present a rare case of NP-C1, diagnosed at age 35 with an initial symptom of supranuclear palsy. The goal of the presented case is to highlight the importance of the neurological examination and an inclusive differential diagnosis in patients with new-onset supranuclear palsy. (2) Methods: A single case report. (3) Results: A 46-year-old male with a past medical history of NP-C1 was admitted to the hospital for respiratory distress. He was noted to have a supranuclear gaze palsy with partially preserved voluntary saccades to the right. His mother revealed that he first had difficulty moving his eyes at the age of 34. After multiple consultations and genetic testing one year later, he was diagnosed with NP-C1. (4) Conclusions: Because NP-C1 affects many regions of the brain responsible for eye movements, neurological eye assessments can be a useful tool in diagnoses. Furthermore, eye movement abnormalities may be the initial presenting symptom of NP-C1, predisposing patients to misdiagnosis with progressive supranuclear palsy and other conditions that may mimic early-stage NP-C1. Definitive diagnosis is achieved through genetic testing. Filipin staining test was the gold standard in the past. The NP-C Suspicion Index was developed to assist in diagnoses, but its efficacy is unclear with late adult-onset NP-C1. Although no cure exists, early identification can facilitate an improved symptom management course for patients. Miglustat, a glucosylceramide synthase (GCS) inhibitor, is the approved therapy in Europe specific to NP-C1 for slowing and preventing the neurological manifestations of NP-C1. Delays between symptom onset and treatment initiation are likely to result in poorer outcomes and a progression of neurological symptoms. High doses may present tolerance concerns, especially in cases of delayed treatment and advanced neurological deficit.

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Section: Discussionmentioning

confidence: 99%

Supranuclear Palsy as an Initial Presentation of the Adult-Onset Niemann-Pick Type C

Mohamed,

Gan,

Babici

et al. 2024

Neurology International

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“…This method is diagnostic because Gaucher cells have diffused iron staining, whereas Gaucher-like cells do not. Additionally, the ultrastructure of the crystalline inclusions on electron microscopic examination may also help to distinguish these two types of cells, Gaucher-like cells from true Gaucher cells, since Gaucher-like cells do not contain typical tubular cytoplasmic inclusions, which are present in Gaucher cells [9,15,16]. Upon the identification of Gaucher-like cells in hematopoietic biopsies, iron staining as a routine method could be an important and feasible diagnostic tool.…”

Section: Discussionmentioning

confidence: 99%

Gaucher-like Cells in Thalassemia Intermedia: Is It a Challenge?

Komninaka,

Flevari,

Karkaletsis

et al. 2023

Diseases

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We describe two cases of thalassemia intermedia (TI) patients with the presence of Gaucher-like cells in hematopoietic tissue biopsies, raising diagnostic dilemmas. The first is a 56-year-old female with bone lesions, splenomegaly, hypochromic microcytic anemia and Gaucher-like cells in the bone marrow, with a final diagnosis of TI, and the second is a 69-year-old male with TI, monoclonal gammopathy of undetermined significance (MGUS) that accelerated to multiple myeloma (MM) requiring treatment, bone disease and Gaucher-like cells in the bone marrow and the spleen, and heterozygoty of Gaucher disease (GD). Gaucher-like cells are difficult to differentiate from true Gaucher cells, that are the hallmark of GD suspicion. These cells are usually reported in the lymphohematopoietic system. They have been described in myeloproliferative disorders, hematological malignancies, infectious diseases, hemoglobinopathies and other hemolytic anemias. The presence of Gaucher-like cells in patients with thalassemia major has been well documented, whereas there are limited references regarding cases with thalassemia intermedia. The identification of these cells in thalassemia probably reflects the high cell turnover. The bony complications in GD and TIare not yet fully explained in the literature, and this raises the question of whether Gaucher-like cells could play a pathogenetic role in the bone disease of thalassemia, as Gaucher cells are considered to play a similar role in bone complications of GD. Moreover, given the rarity and similarity of Gaucher and Gaucher-like cells, we would like to highlight that the presence of Gaucher-like cells in the bone marrow should not be overlooked, as they might be obscuring an underlying pathology, in order to ensure that hematologists, internists and hematopathologists will be promptly and accurately diagnosed.

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“…The sea-blue histiocytes are macrophages, varying from 20 to 60 um in diameter with a single eccentric nucleus, large cytoplasm, and sea-blue granules containing lipofuscin or ceroid. 1 Sea blue histiocytes are a common feature of CML and that their accumulation seems to be associated with a prolonged increase in leucocyte turnover thus, pointing towards the chronic phase of CML, although this finding has no prognostic importance in the era of tyrosine kinase inhibitors (TKI). Besides CML, sea-bluehistiocytes have also been described in other conditions such as myelodysplastic syndromes, lymphomas, idiopathic thrombocytopenic purpura, lipid storage diseases and ß-thalassemia major.…”

Section: What Is the Bone Marrow Aspirate Smear Suggestive Of?mentioning

confidence: 99%