Hypothalamic-pituitary sarcoidosis with vision loss and hypopituitarism: case series and literature review.
OBJECTIVE
Hypothalamic-pituitary (HP) neurosarcoidosis (NS) accounts for 0.5 % cases of sarcoidosis and 1 % of HP masses. Correlative data on endocrine and neurological outcomes is lacking.


METHODS
Retrospective case series and literature review of presentation, treatment and outcome of HP NS.


RESULTS
Our series includes 4 men, ages 34-59, followed for a median of 7.3 years (range 1.5-17). All had optic neuropathy, multiple pituitary hormone abnormalities (PHAs) and other organ involvement by sarcoidosis (lung, sino-nasal, brain/spine and facial nerve). Two patients had central diabetes insipidus and one impaired thirst with polydipsia. After treatment with high-dose glucocorticoids, optic neuropathy improved in one case and stabilized in the others. After treatment, HP lesions improved radiologically, but PHAs persisted in all cases. Review of four published series on HP NS in addition to ours yielded 46 patients, age 37 ± 11.8 years, 65 % male. PHAs consisted of anterior hypopituitarism (LH/FSH 88.8 %, TSH 67.4 %, GH 50.0 %, ACTH 48.8 %), hyperprolactinemia (48.8 %) and diabetes insipidus (65.2 %). PHAs were the first sign of disease in 54.3 % patients. Vision problems occurred in 28.3 % patients, but optic neuropathy was not well documented in previous series. Most patients (93.5 %) received high-dose glucocorticoids followed by taper; 50 % also received other immunomodulators, including methotrexate, mycophenolate mofetil, cyclosporine, azathioprine, infliximab and hydrochloroquine. Only 13 % patients showed improvement in PHAs. All-cause mortality was 8.7 %.


CONCLUSIONS
HP NS is a serious disease requiring multidisciplinary treatment and lifelong follow-up. Prospective multicentric studies are needed to determine a more standardized approach to HP NS and outline predictors of disease outcome.
Specialty Care, Atlanta Veterans Affairs Medical Center, Decatur, GA, USA.|Division of Endocrinology, Department of Medicine, Emory University, 1365 B Clifton Rd., NE, B6209, Atlanta, GA, 30322, USA.
Jeremy
J
Anthony
Department of Neurology, Emory University, Atlanta, GA, USA.
Gregory J
GJ
Esper
Division of Endocrinology, Department of Medicine, Emory University, 1365 B Clifton Rd., NE, B6209, Atlanta, GA, 30322, USA. aioachi@emory.edu.|Department of Neurosurgery, Emory University, Atlanta, GA, USA. aioachi@emory.edu.
Adriana
A
Ioachimescu
D000328:Adult; D005938:Glucocorticoids / Q000627:therapeutic use; D006801:Humans; D007018:Hypopituitarism / Q000175:diagnosis* / Q000188:drug therapy / Q000209:etiology; D007031:Hypothalamus / Q000473:pathology; D007155:Immunologic Factors / Q000627:therapeutic use; D008297:Male; D008875:Middle Aged; D010900:Pituitary Diseases / Q000150:complications / Q000175:diagnosis* / Q000188:drug therapy; D010902:Pituitary Gland / Q000473:pathology*; D012189:Retrospective Studies; D012507:Sarcoidosis / Q000150:complications / Q000175:diagnosis*; D014786:Vision Disorders / Q000188:drug therapy / Q000209:etiology / Q000473:pathology
D005938:Glucocorticoids; D007155:Immunologic Factors
Hypopituitarism; Hypothalamic; Neurosarcoidosis; Pituitary; Vision loss