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

[摘要] Erdheim–Chester disease (ECD) is a potentially fatal condition characterized by infiltration of multiple organs by nonLangerhans histiocytes. Although endocrine dysfunction has been reported in association with ECD, to date, there have beenno previous reports of empty sella syndrome (ESS) associated with it. We report the case of a patient with ECD who hadsymptomatic ESS. A 55-year-old man of Chinese ethnicity initially presented with symptoms of heart failure, fatigue and kneejoint pain. Physical examination revealed xanthelasma, gynaecomastia, lung crepitations, hepatomegaly and diminishedtesticular volumes. He had laboratory evidence of hypogonadotrophic hypogonadism, secondary hypoadrenalism andGH deficiency. Imaging studies showed diffuse osteosclerosis of the long bones on X-ray, a mass in the right atrium andthickening 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.

[学科分类] 血液学

[关键词] Adult;Male;Asian - Chinese;Singapore;Adrenal;Bone;Pituitary;Thyroid;Adrenal;IGF1;Thyroxine (T4);TSH;FSH;LH;Oestradiol (E2);Testosterone;Prolactin;Empty sella syndrome;Hypopituitarism;Hashimoto's disease;Heart failure;Dyspnoea;Fatigue;Arthralgia;Gynaecomastia;Crackles;Hepatomegaly;Hypogonadotrophic hypogonadism;Hypogonadism;Atrial fibrillation;Polydipsia;Polyuria;Libido reduction/loss;Hypoadrenalism;Growth hormone deficiency;Osteosclerosis;CT scan;HDL cholesterol;LDL cholesterol;Echocardiogram;FT4;TSH;Thyroid antibodies;MRI;PET scan;FSH;LH;Testosterone;Oestradiol (E2);IGF1;Prolactin;Sex hormone binding globulin;Bone biopsy;Holter monitoring;Cardiac pacemaker;Interferon;Prednisolone;Glucocorticoids;Testosterone;Levothyroxine;Thyroxine (T4);Unique/unexpected symptoms or presentations of a disease;March;2015