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

Endocrinology, Diabetes & Metabolism Case Reports

article

Wann Jia Loh¹  Kesavan Sittampalam¹  Suan Cheng Tan¹  Manju Chandran¹ 

[1] Singapore General Hospital, Academia, 20, College Road

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;   

DOI  :  10.1530/EDM-14-0122

学科分类：血液学

来源: Bioscientifica Ltd.

【 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.

【 授权许可】

CC BY-NC-ND