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Symptomatic empty sella syndrome: an unusual manifestation of Erdheim-Chester disease.

Loh WJ, Sittampalam K, Tan SC, Chandran M - Endocrinol Diabetes Metab Case Rep (2015)

Bottom Line: The diagnosis of ECD was confirmed by bone biopsy.ECD is a multisystemic disease that can affect the pituitary and other organs.The diagnosis of ECD is based on clinical and radiological features and histology, showing lipid-laden CD68(+) CD1a(-) S100(-) histiocytes surrounded by fibrosis.The finding of xanthelasmas especially in the presence of normal lipid levels in the presence of a multisystem infiltrative disorder should raise the suspicion of ECD.Systemic perturbation of autoimmunity may play a role in the pathogenesis of ECD and is an area that merits further research.

View Article: PubMed Central - PubMed

Affiliation: Osteoporosis and Bone Metabolism Unit, Department of Endocrinology, Singapore General Hospital , Academia, 20, College Road, Singapore, 169856 , Singapore.

ABSTRACT

Unlabelled: Erdheim-Chester disease (ECD) is a potentially fatal condition characterized by infiltration of multiple organs by non-Langerhans histiocytes. Although endocrine dysfunction has been reported in association with ECD, to date, there have been no previous reports of empty sella syndrome (ESS) associated with it. We report the case of a patient with ECD who had symptomatic ESS. A 55-year-old man of Chinese ethnicity initially presented with symptoms of heart failure, fatigue and knee joint pain. Physical examination revealed xanthelasma, gynaecomastia, lung crepitations, hepatomegaly and diminished testicular volumes. He had laboratory evidence of hypogonadotrophic hypogonadism, secondary hypoadrenalism and GH deficiency. Imaging studies showed diffuse osteosclerosis of the long bones on X-ray, a mass in the right atrium and thickening of the pleura and of the thoracic aorta on fusion positron emission tomography-computed tomography. Magnetic resonance imaging (MRI) of the brain showed an empty sella. The diagnosis of ECD was confirmed by bone biopsy.

Learning points: ECD is a multisystemic disease that can affect the pituitary and other organs. The diagnosis of ECD is based on clinical and radiological features and histology, showing lipid-laden CD68(+) CD1a(-) S100(-) histiocytes surrounded by fibrosis.The finding of xanthelasmas especially in the presence of normal lipid levels in the presence of a multisystem infiltrative disorder should raise the suspicion of ECD.Systemic perturbation of autoimmunity may play a role in the pathogenesis of ECD and is an area that merits further research.

No MeSH data available.


Related in: MedlinePlus

Histology of bone biopsy specimen. (A) High power view of foamy macrophages in the interlamellar spaces (thin arrow), using CD163+ CD68+ CD1a− S100− immunostain; 200× magnification. (B) Low-power view of trabeculae of woven and lamellar bone, 100× magnification.
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fig3: Histology of bone biopsy specimen. (A) High power view of foamy macrophages in the interlamellar spaces (thin arrow), using CD163+ CD68+ CD1a− S100− immunostain; 200× magnification. (B) Low-power view of trabeculae of woven and lamellar bone, 100× magnification.

Mentions: The patient underwent a bone biopsy of the femur, which showed small clusters of CD68 and CD163 immunopositive foamy macrophages. S100 and CD1a immunostaining was negative (Fig. 3). This is diagnostic of ECD (1).


Symptomatic empty sella syndrome: an unusual manifestation of Erdheim-Chester disease.

Loh WJ, Sittampalam K, Tan SC, Chandran M - Endocrinol Diabetes Metab Case Rep (2015)

Histology of bone biopsy specimen. (A) High power view of foamy macrophages in the interlamellar spaces (thin arrow), using CD163+ CD68+ CD1a− S100− immunostain; 200× magnification. (B) Low-power view of trabeculae of woven and lamellar bone, 100× magnification.
© Copyright Policy - license
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4372670&req=5

fig3: Histology of bone biopsy specimen. (A) High power view of foamy macrophages in the interlamellar spaces (thin arrow), using CD163+ CD68+ CD1a− S100− immunostain; 200× magnification. (B) Low-power view of trabeculae of woven and lamellar bone, 100× magnification.
Mentions: The patient underwent a bone biopsy of the femur, which showed small clusters of CD68 and CD163 immunopositive foamy macrophages. S100 and CD1a immunostaining was negative (Fig. 3). This is diagnostic of ECD (1).

Bottom Line: The diagnosis of ECD was confirmed by bone biopsy.ECD is a multisystemic disease that can affect the pituitary and other organs.The diagnosis of ECD is based on clinical and radiological features and histology, showing lipid-laden CD68(+) CD1a(-) S100(-) histiocytes surrounded by fibrosis.The finding of xanthelasmas especially in the presence of normal lipid levels in the presence of a multisystem infiltrative disorder should raise the suspicion of ECD.Systemic perturbation of autoimmunity may play a role in the pathogenesis of ECD and is an area that merits further research.

View Article: PubMed Central - PubMed

Affiliation: Osteoporosis and Bone Metabolism Unit, Department of Endocrinology, Singapore General Hospital , Academia, 20, College Road, Singapore, 169856 , Singapore.

ABSTRACT

Unlabelled: Erdheim-Chester disease (ECD) is a potentially fatal condition characterized by infiltration of multiple organs by non-Langerhans histiocytes. Although endocrine dysfunction has been reported in association with ECD, to date, there have been no previous reports of empty sella syndrome (ESS) associated with it. We report the case of a patient with ECD who had symptomatic ESS. A 55-year-old man of Chinese ethnicity initially presented with symptoms of heart failure, fatigue and knee joint pain. Physical examination revealed xanthelasma, gynaecomastia, lung crepitations, hepatomegaly and diminished testicular volumes. He had laboratory evidence of hypogonadotrophic hypogonadism, secondary hypoadrenalism and GH deficiency. Imaging studies showed diffuse osteosclerosis of the long bones on X-ray, a mass in the right atrium and thickening of the pleura and of the thoracic aorta on fusion positron emission tomography-computed tomography. Magnetic resonance imaging (MRI) of the brain showed an empty sella. The diagnosis of ECD was confirmed by bone biopsy.

Learning points: ECD is a multisystemic disease that can affect the pituitary and other organs. The diagnosis of ECD is based on clinical and radiological features and histology, showing lipid-laden CD68(+) CD1a(-) S100(-) histiocytes surrounded by fibrosis.The finding of xanthelasmas especially in the presence of normal lipid levels in the presence of a multisystem infiltrative disorder should raise the suspicion of ECD.Systemic perturbation of autoimmunity may play a role in the pathogenesis of ECD and is an area that merits further research.

No MeSH data available.


Related in: MedlinePlus