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?

Blazin, Tatjana; Prajapati, Dhruvil; Mohammed, Linha Lina M; Dhavale, Meera; Abdelaal, Mohamed K; Alam, Amit; Ballestas, Natalia P; Mostafa, Jihan A

doi:10.7759/cureus.11481

Cited by 5 publications

(5 citation statements)

References 46 publications

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“…This is a rare symptom of neurosarcoidosis that has been reported in case studies, although the exact mechanism and whether it involves the syndrome of inappropriate antidiuretic hormone (SIADH) secretion are still unclear. There have additionally been reports of diabetes insipidus in sarcoid patients, and the pathology behind how sarcoidosis can lead to deficiency and excess of antidiuretic hormone (ADH) is not well understood [ 8 ]. This is a topic that would benefit from further research.…”

Section: Discussionmentioning

confidence: 99%

An Unusual Presentation of Neurosarcoidosis in a 64-Year-Old Man: A Case Report

Gopal,

Howard,

Ramaraj

et al. 2024

Cureus

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Sarcoidosis is a multisystem granulomatous disorder with an unknown etiology that typically involves the lungs, skin, and lymph nodes, with neurological involvement being relatively rare. We discuss a case of neurosarcoidosis in a 64-year-old man who initially presented with unexplained cognitive impairment, insomnia, hyponatremia, paresthesias, and weight loss and later developed uveitis, diplopia, and dysphagia. Ultimately, findings of hilar and mediastinal lymphadenopathy on chest computed tomography (CT) resulted in bronchoscopy, which led to the diagnosis. This case highlights a rare presentation of sarcoidosis with an unusual constellation of symptoms. We discuss the difficulty involved in diagnosing this disorder as well as its highly variable course.

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Section: Discussionmentioning

confidence: 99%

An Unusual Presentation of Neurosarcoidosis in a 64-Year-Old Man: A Case Report

Gopal,

Howard,

Ramaraj

et al. 2024

Cureus

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“…Hypothalamus, pituitary gland, and optic chiasma are among the predilection sites for neurosarcoidosis. Patients belonging to this category usually present with features of hypopituitarism such as central diabetes insipidus, hyperprolactinemia, and other endocrinopathies arising from inflammation of the pituitary gland or a sellar mass lesion 20 , 21 . Gadolinium enhanced MRI of the pituitary gland shows either asymmetrical pituitary enlargement with stalk deviation, as in the case of adenoma, or symmetrical enlargement of the pituitary gland and pituitary stalk, as in the case of lymphocytic hypophysitis.…”

Section: Discussionmentioning

confidence: 99%

A comprehensive diagnostic approach in suspected neurosarcoidosis

Berntsson

Elmgren

Gudjonsson

et al. 2023

Sci Rep

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Neurosarcoidosis presents a diagnostic challenge in clinical settings, as it has no pathognomonic symptoms or signs and a wide range of differential diagnoses. The aim of this report is to present the pathological features of our group of patients, obtained through a systematic diagnostic approach. This retrospective cohort study enrolled all adult patients primarily diagnosed with neurosarcoidosis at the neurology department of a tertiary center in Sweden over a period of 30 years, from 1990 to 2021. We identified 90 patients, 54 with possible neurosarcoidosis and 36 with probable neurosarcoidosis. CNS biopsy revealed an alternative diagnosis for 24 patients, who were then excluded. The collected data from medical records included demographic and clinical characteristics, systemic and/or neurological isolated involvement, various laboratory tests, including cerebrospinal fluid (CSF), serum analysis, imaging studies (MRI, FDG-PET/CT, and HRCT), nerve conduction studies, electromyography, and pathology reports of central nervous system (CNS), and extra-neural tissue biopsies. Sixty-six patients were included in our cohort. The median age at onset of symptoms was 49 years, with a similar sex distribution. Cranial neuropathies (38%), motor deficit (32%), headache (16%), and pituitary dysfunction (12%) were the most common presenting features. CSF studies were abnormal in 77% of the patients, who showed lymphocytosis (57%), elevated protein (44%), oligoclonal bands (40%), elevated ACE (28%), and raised T lymphocyte CD4+/CD8+ ratios (13%). Strikingly, MRI showed that 17% of the patients presented with isolated pituitary gland lesions. FDG-PET/CT was performed in 22 patients (33%) and confirmed systemic sarcoidosis in 11. Despite our extensive workup, the final classification for our patients only allowed for a definite diagnosis in 14 patients; the remainder were classified as probable (32) or possible (20) neurosarcoidosis. Since 2007, the employment of a structured laboratory and imaging approach and the increasing number of CNS biopsies have facilitated and improved the process of correct attribution in patients with presumptive neurosarcoidosis, especially in patients with isolated neurological lesions. We highlight a higher frequency of pituitary lesions due to neurosarcoidosis than has been classically described. A detailed laboratory diagnostic workup is included.

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“…Recovery of thirst is unusual. 88,97 These patients do not feel an urge to compensate for the fluid loss by drinking water, and are rendered at high risk of hypernatraemia and severe dehydration.…”

Section: Hypoxic Encephalopathymentioning

confidence: 99%

“…It may be also caused by neurosurgical clipping of anterior communicating artery aneurysms. Recovery of thirst is unusual 88,97 . These patients do not feel an urge to compensate for the fluid loss by drinking water, and are rendered at high risk of hypernatraemia and severe dehydration.…”

Section: Pathogenesis and Molecular Genetics Of DImentioning

confidence: 99%

“…Hypothalamic-pituitary involvement in neurosarcoidosis is often asymptomatic, although, occasionally, it may be the first manifestation of sarcoidosis (< 5% of cases). 97 Granuloma formation affecting the hypothalamic-pituitary-axis may lead to irreversible damage and hormonal deficiencies, and can also lead to the loss of thirst sensation, thus causing adipsic CDI. Polyuria in patients with sarcoidosis may also be a result of NDI, induced by hypercalcaemia.…”

Section: Systemic and Infiltrative Diseasesmentioning

confidence: 99%

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New developments and concepts in the diagnosis and management of diabetes insipidus (AVP‐deficiency and resistance)

Angelousi

Alexandraki

Mytareli

et al. 2023

J Neuroendocrinology

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Diabetes insipidus (DI) is a disorder characterised by the excretion of large amounts of hypotonic urine, with a prevalence of 1 per 25,000 population. Central DI (CDI), better now referred to as arginine vasopressin (AVP)‐deficiency, is the most common form of DI resulting from deficiency of the hormone AVP from the pituitary. The less common nephrogenic DI (NDI) or AVP‐resistance develops secondary to AVP resistance in the kidneys. The majority of causes of DI are acquired, with CDI developing when more than 80% of AVP‐secreting neurons are damaged. Inherited/familial CDI causes account for approximately 1% of cases. Although the pathogenesis of NDI is unclear, more than 280 disease‐causing mutations affecting the AVP2 protein or AVP V2 receptor, as well as in aquaporin 2 (AQP2), have been described. Although the cAMP/protein kinase A pathway remains the major regulatory pathway of AVP/AQP2 action, in vitro data have also revealed additional cAMP independent pathways of NDI pathogenesis. Diagnosing partial forms of DI, and distinguishing them from primary polydipsia, can be challenging, previously necessitating the use of the water deprivation test. However, measurements of circulating copeptin levels, especially after stimulation, are increasingly replacing the classical tests in clinical practice because of their ease of use and high sensitivity and specificity. The treatment of CDI relies on desmopressin administration, whereas NDI requires the management of any underlying diseases, removal of offending drugs and, in some cases, administration of diuretics. A better understanding of the pathophysiology of DI has led to novel evolving therapeutic agents that are under clinical trial.

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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?

Cited by 5 publications

References 46 publications

An Unusual Presentation of Neurosarcoidosis in a 64-Year-Old Man: A Case Report

An Unusual Presentation of Neurosarcoidosis in a 64-Year-Old Man: A Case Report

A comprehensive diagnostic approach in suspected neurosarcoidosis

New developments and concepts in the diagnosis and management of diabetes insipidus (AVP‐deficiency and resistance)

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