Pituitary Imaging Abnormalities and Related Endocrine Disorders in Erdheim–Chester Disease

Shekhar, Skand; Irizarry-Caro, Jorge A.; Sinaii, Ninet; Gahl, William A.; Estrada-Veras, Juvianee; Dave, Rahul; Gochuico, Bernadette R.; Papadakis, Georgios Z.; Patronas, Nicholas J.; Stratakis, Constantine A.; O’Brien, Kevin; Hannah‐Shmouni, Fady

doi:10.3390/cancers13164126

Cited by 6 publications

(5 citation statements)

References 37 publications

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“…ECD staging should exclude heart, central nervous system and endocrine system involvement with implications for treatment. Hypothyroidism is highly prevalent in ECD patients and may also constitute an adverse event of ECD treatment with interferon-alpha [ 15 , 16 ]. In our case, the primary involvement was the perirenal tissue infiltration with a risk for hydronephrosis and interferon-alpha was proposed as first line treatment.…”

Section: Discussionmentioning

confidence: 99%

Diagnosing a Patient with Erdheim-Chester Disease during the COVID-19 Pandemic

et al. 2021

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Background: Erdheim-Chester disease (ECD) is a rare hematopoietic neoplasm of histiocytic origin characterized by an insidious course. The coronavirus disease 2019 (COVID-19) pandemic has put an enormous strain on healthcare systems worldwide both directly and indirectly, resulting in the disruption of healthcare services to prevent, diagnose and manage non-COVID-19 disease. Case Presentation: We describe the case of a 58-year-old male patient with sporadic episodes of self-resolving mild fever and anemia of chronic disease with onset two years before the current presentation. Positron emission/computed tomography scan revealed the presence of moderately hypermetabolic perirenal tissue masses. In order to achieve diagnosis, repeated perirenal tissue biopsies were performed, and the diagnostic evaluation was complicated by the strain put on the healthcare system by the COVID-19 pandemic. The patient contracted SARS-CoV-2 and required hospitalization, but recovered fully. No further ECD target organ involvement was documented. Treatment options were presented, but the patient chose to defer treatment for ECD. Conclusion: A high index of suspicion and multidisciplinary team collaboration is paramount to achieve diagnosis in rare conditions such as ECD. Disruptions in healthcare services in the pandemic milieu may disproportionately affect people with rare diseases and further study and effort is required to better meet their needs in the pandemic setting.

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Section: Discussionmentioning

confidence: 99%

Diagnosing a Patient with Erdheim-Chester Disease during the COVID-19 Pandemic

et al. 2021

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“…A thickened pituitary stalk was defined when the thickness was ≥ 4 mm at the median eminence level or ≥ 3 mm at the midpoint level [9]. The pituitary gland was considered to show atrophy if the largest vertical dimension of the pituitary was ≤ 4 mm [10]. Abnormal pituitary enhancement was defined as heterogeneous signal intensity of the entire pituitary parenchyma on enhanced T1WI [10].…”

Section: Image Analysismentioning

confidence: 99%

“…The pituitary gland was considered to show atrophy if the largest vertical dimension of the pituitary was ≤ 4 mm [10]. Abnormal pituitary enhancement was defined as heterogeneous signal intensity of the entire pituitary parenchyma on enhanced T1WI [10]. Physiological changes in the pituitary size and Rathke's cyst were considered to be normal.…”

Section: Image Analysismentioning

confidence: 99%

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Comparison of neuroimaging features of histiocytic neoplasms with central nervous system involvement: a retrospective study of 121 adult patients

et al. 2023

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Objectives To compare neuroimaging characteristics of three types of histiocytoses, namely Langerhans cell histiocytosis (LCH), Erdheim-Chester disease (ECD), and Rosai-Dorfman disease (RDD), with central nervous system (CNS) involvement. Methods A total of 121 adult patients with histiocytoses (77 LCH, 37 ECD, and 7 RDD) and CNS involvement were retrospectively included. Histiocytoses were diagnosed based on histopathological findings combined with suggestive clinical and imaging features. Brain and dedicated pituitary MRIs were systematically analyzed for tumorous, vascular, degenerative lesions, sinus, and orbital involvement and for hypothalamic pituitary axis involvement. Results Endocrine disorders, including diabetes insipidus and central hypogonadism, were more common in LCH patients than in ECD and RDD patients (p < 0.001). In LCH, tumorous lesions were mostly solitary (85.7%), located in the hypothalamic pituitary region (92.9%), and without peritumoral edema (92.9%), while in ECD and RDD, tumorous lesions were often multiple (ECD: 81.3%, RDD: 85.7%), their distribution was more widespread with meninges mostly involved (ECD: 75%, RDD: 71.4%), and they most likely presented with peritumoral edema (ECD: 50%, RDD: 57.1%; all p ≤ 0.020). Vascular involvement was an exclusive imaging characteristic of ECD (17.2%), which was not observed in LCH or RDD; this was also associated with a higher risk of death (p = 0.013, hazard ratio = 11.09). Conclusion The typical characteristic of adult CNS-LCH was endocrine disorders with radiological findings limited to the hypothalamic pituitary axis. The pattern of multiple tumorous lesions with predominant involvement of meninges was the main manifestation of CNS-ECD and CNS-RDD, while vascular involvement was pathognomonic for ECD and associated with poor prognosis. Clinical relevance statement Involvement of the hypothalamic-pituitary axis is the typical imaging characteristic of Langerhans cell histiocytosis. Multiple tumorous lesions, predominantly involving but not limited to meninges, occur in most Erdheim-Chester disease and Rosai-Dorfman disease patients. Vascular involvement occurs only in Erdheim-Chester disease patients. Key Points • The different distribution patterns of brain tumorous lesions can help differentiate among LCH, ECD, and RDD. • Vascular involvement was an exclusive imaging finding of ECD and was associated with high mortality. • Some cases with atypical imaging manifestations were reported to further expand the knowledge on these diseases.

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“…4 Often, ECD also affects the pituitary gland and manifests clinically as diabetes insipidus, polydipsia, and electrolyte disturbances. 5 Was there evidence of pituitary involvement, such as diabetes insipidus?…”

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confidence: 99%