Magnetic resonance imaging and symptoms in patients with neurosarcoidosis and central diabetes insipidus

Abstract

Introduction: In the clinical setting, the diagnosis of neurosarcoidosis in patients with central diabetes insipidus (CDI) is typically based both on symptoms (i.e. polydipsia or polyuria) and brain magnetic resonance imaging (MRI) findings (e.g. pituitary abnormality). However, inconsistent changes in the patient's symptoms and brain MRI findings may occur during the clinical course of the disease. This review was performed to summarise the relationship between symptoms and brain MRI findings in previously reported cases of neurosarcoidosis with CDI. Material and methods: Case studies of patients diagnosed with neurosarcoidosis with CDI were collected via a PubMed search of studies published through 30 June 2018. Results: Thirteen eligible studies were reviewed (20 patients; 12 men, 8 women; mean age 33 years). Polydipsia or polyuria was the first symptom in 13 patients. The mean duration from disease onset to diagnosis was 3.4 months. Brain MRIs showed abnormal findings in the hypothalamus and pituitary for 17 patients. Immunosuppressive drugs were used in 17 patients. For 14 patients, MRI findings improved, while symptoms did not. Conclusion: Patients with both neurosarcoidosis and CDI symptoms often do not improve, despite the fact that brain MRI findings often improve following treatment. More studies involving detailed pathological analyses and longer follow-up periods are necessary.

Hypothalamic-Pituitary Axis Dysfunction, Central Diabetes Insipidus, and Syndrome of Inappropriate Antidiuretic Hormone Secretion as the First Clinical Presentation of Neurosarcoidosis: Why Early Diagnosis and Treatment is Important?

“…Out of 20 patients, 17 showed MRI abnormalities of the hypothalamus and pituitary, and those patients were treated with immunosuppressants. For 14 patients in therapy, MRI findings improved while symptoms of DI persisted [4]. The mean duration from symptoms onset to diagnosis was 3.4 months and remains unclear if a lack of prompt diagnosis and treatment contributed to these findings.…”

“…Neurosarcoidosis is a rare condition, occurring in approximately 5-15% of patients diagnosed with systemic sarcoidosis. Of those cases, 52% initially present with neurological symptoms [4,5]. Hypothalamic-pituitary (HP) involvement in neurosarcoidosis is often asymptomatic; however, it can present clinically in the form of endocrine dysfunction ( Figure 1).…”

“…Hypothalamic-pituitary (HP) involvement in neurosarcoidosis is often asymptomatic; however, it can present clinically in the form of endocrine dysfunction ( Figure 1). The granuloma formation affecting HP may also lead to irreversible damage and hormone deficiencies [4][5][6]. However, this condition is rarely observed and has a prevalence of only 2.5% [7].…”

“…Brain magnetic resonance imaging (MRI) is the diagnostic study of choice due to its relatively high sensitivity at approximately 82-97% but lacks the specificity for diagnosing neurosarcoidosis [4,8]. Tissue biopsy is essential for definitive diagnosis, but it is not always the safest option; instead, a classification system which includes 'definitive,' 'probable' and 'possible' sarcoidosis is accepted.…”

“…Furthermore, hypothalamic and/or pituitary lesions were found in 8.5% of patients diagnosed with neurosarcoidosis in an earlier cohort study from 2019 including 82 patients [1]. MRI findings in HP sarcoidosis most frequently include infiltrative lesions of the hypothalamus or pituitary gland and pituitary stalk thickening; however, normal MRI findings are reported in some cases which further can delay the diagnosis [1,4,24]. Despite the improvement in MRI findings after treatment, most hormonal deficiencies are permanent [24].…”