Fatal juvenile xanthogranuloma presenting as a sellar lesion: case report and literature review

Ferguson, Sherise D.; Waguespack, Steven G.; Langford, Lauren A.; Ater, Joann L.; McCutcheon, Ian E.

doi:10.1007/s00381-014-2604-3

Cited by 19 publications

(19 citation statements)

References 44 publications

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“…There are few case reports describing endocrine dysfunction and/or visual impairment in patients with JXG of the sellar region. 6,24,25 All pituitary dysfunctions in the four patients in our series were present at the time of JXG diagnosis. In patients with LCH, CDI usually develops at two or three years after the diagnosis of LCH, followed by anterior pituitary dysfunction.…”

Section: Discussionmentioning

confidence: 66%

“…2,3 JXG presenting with intracranial lesions is extremely rare, accounting for 1%-2% of JXG cases. 2,3 The outcomes of these patients are often dismal, [4][5][6][7] and aggressive therapy may be The outcomes, including late sequelae, of patients with extracutaneous JXG remain unclear because of the paucity of published case reports. [4][5][6][7]9 Here, we report the results of a retrospective observational study of extracutaneous JXG in Japan.…”

Section: Jxg Is the Most Common Non-langerhans Cellmentioning

confidence: 99%

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Long‐term outcomes of children with extracutaneous juvenile xanthogranulomas in Japan

Maeda

Morimoto

Shibata

et al. 2020

Pediatric Blood & Cancer

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Background: Juvenile xanthogranuloma (JXG) is the most common non-Langerhans cell histiocytosis in children. The mortality and morbidity of JXG with extracutaneous lesions remain unclear. Methods: Data of patients aged < 18 years who were diagnosed with JXG between 2001 and 2010 were retrospectively collected through a nationwide survey.Results: Twenty patients (11 male and nine female) had extracutaneous lesions. The median observation time was 10 years (range, 0-17). Six patients presented with symptoms at birth. The median age at diagnosis was 8.5 months (range, 0 month-13 years). Fifteen patients underwent treatment for JXG, including chemotherapy (n = 11), and five did not receive treatment. All patients except one survived; 17 were disease-free and two survived with disease. One newborn-onset patient with liver, spleen, and bone marrow involvement died of the disease. Permanent sequelae included central diabetes insipidus, growth hormone deficiency, and panhypopituitarism detected at diagnosis in three, one, and two patients, respectively. Four patients had visual impairment (optic nerve compression and intraocular invasion in two each), three had epilepsy, one had mental retardation, and one had a skin scar. Eight patients who had intracranial lesions were older at diagnosis, and had a higher frequency of disease-related comorbidities and permanent sequelae than those without intracranial involvement. Conclusions:Patients with extracutaneous JXG had good outcomes, although those with intracranial lesions had serious permanent sequelae. Effective and safe treatment regimens for patients with intracranial JXG need to be developed.

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Section: Discussionmentioning

confidence: 66%

Section: Jxg Is the Most Common Non-langerhans Cellmentioning

confidence: 99%

Long‐term outcomes of children with extracutaneous juvenile xanthogranulomas in Japan

Maeda

Morimoto

Shibata

et al. 2020

Pediatric Blood & Cancer

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“…Although up to 90% of juvenile xanthogranulomas manifest with nodular cutaneous lesions, 4% develop aggressive extracutaneous disease that can affect multiple organ systems. [5][6][7] Juvenile xanthogranuloma involves the liver by a portal infiltrate sparing bile ducts. 7 In contrast, ALK-positive histiocytosis has always displayed a sinusoidal infiltrate that pushes aside the neighboring hepatocytes with variable portal involvement.…”

Section: Discussionmentioning

confidence: 99%

Expanding the Phenotype of ALK-positive Histiocytosis: A Report of 2 Cases

et al. 2017

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ALK-positive histiocytosis is a recently described rare histiocytic proliferative disorder of early infancy. When infants present with anemia, thrombocytopenia, and hepatosplenomegaly, this entity should be included in the differential diagnosis along with hemophagocytic lymphohistiocytosis, metabolic/storage diseases, hematopoietic malignancies, and autoimmune thrombocytopenia. We report 2 new cases of ALK-positive histiocytosis, one with kidney involvement and the other with extensive bone marrow involvement in addition to an overt liver disease. Renal involvement by ALK-positive histiocytosis has not been reported. The infiltrating histiocytes in this case showed Rosai-Dorfman disease-like morphology including emperipolesis. The histiocytes in the second case with extensive bone marrow involvement had foamy cytoplasm initially suggesting storage disease. Our 2 cases highlight previously unrecognized diversity of ALK-positive histiocytosis in clinical manifestation, organ involvement, and cytomorphologic features and further elucidate the diagnostic challenges of this rare entity.

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“…The limited form of xanthogranuloma known to most ophthalmologists is exemplified by juvenile xanthogranuloma [6], which, in addition to involvement of the iris with the production of a hyphema, can exceptionally and limitedly involve internal organs [7-9]. Xanthogranulomas must be distinguished from lipogranulomas.…”

Section: Discussionmentioning

confidence: 99%

The Significance of Extracellular Cholesterol Crystals or a Cholesterol Granuloma in Xanthelasma

Wolkow

Sutula

et al. 2018

Ocul Oncol Pathol

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Background/Aims: Xanthelasma is an unreliable indicator of systemic hyperlipidemia. A review in search of unusual histopathologic features of cellular composition that might correlate with systemic hyperlipidemia was conducted. Methods: An observational case series of 3 cases was performed. Slides were stained and analyzed with hematoxylin and eosin, Masson trichrome, and periodic acid-Schiff as well as for iron. Three lesions displayed an atypical morphologic finding and were subjected to immunohistochemical analysis for CD3, CD20, CD68, CD163, S100, and adipophilin. Results: The three lesions comprised in this study had classical xanthoma cells with densely packed fine vacuoles. The xanthoma cells were CD68, CD163, and adipophilin positive and S100 negative. In case 1, extracellular, nonpolarizing cholesterol crystalloids displayed totally negative staining for all biomarkers. In cases 2 and 3, the cholesterol granulomas were surrounded and permeated by CD68- or CD163-positive epithelioid and giant cells and by CD3-positive T lymphocytes. The 3 cases each harbored squamous cysts. Conclusion: In case 1, the uninflamed extracellular cholesterol crystalloids were associated with severely dysregulated systemic hyperlipidemia. In cases 2 and 3, the cholesterol granulomas were interpreted as a local manifestation of a cyst that might have partially ruptured and did not portend serious hyperlipidemia.

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Fatal juvenile xanthogranuloma presenting as a sellar lesion: case report and literature review

Abstract: This is a rare case of fatal disseminated intracranial JXG without cutaneous manifestations. Additionally, the initial presentation as a sellar lesion is particularly unusual and seldom described in the literature.

Cited by 19 publications

References 44 publications

Long‐term outcomes of children with extracutaneous juvenile xanthogranulomas in Japan

Long‐term outcomes of children with extracutaneous juvenile xanthogranulomas in Japan

Expanding the Phenotype of ALK-positive Histiocytosis: A Report of 2 Cases

The Significance of Extracellular Cholesterol Crystals or a Cholesterol Granuloma in Xanthelasma

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