Whole body positron emission tomography-MRI of Erdheim-Chester disease: a case report

Erdheim-Chester disease (ECD) is a rare non-Langerhans cells histiocytosis characterized by multiorgan involvement, with renal-ECD documented in over one-third of patients. Renal disease is generally asymptomatic, rarely causing hydronephrosis and kidney impairment. In addition, the diverse clinical picture of Erdheim-Chester disease arises slowly with sequential manifestations. We present a rare case of a 75-year-old woman on long-term treatment for panhypopituitarism and steroid therapy for vasculitis, presenting to the emergency department with bilateral renal colic and acute kidney injury. Abdominopelvic CT scan revealed renal infiltration with signs of retroperitoneal fibrosis and hydronephrosis. Kidney CT-guided biopsy and 18-fluorodeoxyglucose (FDG) positron emission tomography whole body scan as well as the history of hypopituitarism and vasculitis confirmed the diagnosis of Erdheim-Chester disease. Proper therapy with interferon-α was started. This case describes the multifaced manifestation of this disease and the difficulty to establish the diagnosis, as well as the pivotal role that a urologist can play in its management.

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Cerebellar ataxia and exercise intolerance in Erdheim-Chester disease

Cerebellum & Ataxias ◽

10.1186/s40673-020-00125-x ◽

2021 ◽

Vol 8 (1) ◽

Author(s):

Eleonora Lauricella ◽

Antonio d’Amati ◽

Giuseppe Ingravallo ◽

Maurizio Foresio ◽

Domenico Ribatti ◽

...

Keyword(s):

Cerebellar Atrophy ◽

Exercise Intolerance ◽

Whole Body ◽

Diffuse Infiltration ◽

Erdheim Chester Disease ◽

Positron Emission ◽

Fluid Attenuated Inversion Recovery ◽

Cd 68 ◽

Erdheim Chester ◽

Chester Disease

Abstract Background Erdheim-Chester disease (ECD), a rare disorder of monocyte/macrophage lineage, has been related to cerebellar dysfunction. To increase the awareness of this rare, protean disease, an unusual, myasthenia-like onset of ECD is reported. Case presentation A 42-year-old man presented with a 6-year history of mild evening fatigability in his four limbs followed by motor and cognitive symptoms associated with cerebellar atrophy, dentate nuclei and dentato-thalamic pathway degeneration. Magnetic resonance imaging revealed hyperintense signals in T2 and fluid-attenuated inversion recovery sequences within the pons, cerebellar white matter, dentate nuclei and globi pallidi in the absence of any contrast enhancement. Whole-body bone scintigraphy with 99Technetium - methylene diphosphonate and fluorodeoxyglucose-positron emission tomography both revealed symmetric uptake in the lower extremities a finding suggestive of a diagnosis of ECD. Histological examination revealed diffuse infiltration of CD 68+ histiocytes with foamy cytoplasms in the presence of B-type of Rapidly Accelerated Fibrosarcoma protein kinase (BRAF)V600E activating mutation in tumor cells. Conclusion In patients with myasthenia-like symptoms who test negatively for myasthenia gravis, neurodegenerative diseases, and disorders of the hypothalamus, a diagnosis of ECD should be taken into consideration.

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An Unusual Case of Myasthenia-Like Presentation in Erdheim-Chester Disease

10.21203/rs.3.rs-81994/v1 ◽

2020 ◽

Author(s):

Eleonora Lauricella ◽

Antonio d'Amati ◽

Giuseppe Ingravallo ◽

Maurizio Foresio ◽

Domenico Ribatti ◽

...

Keyword(s):

Cerebellar Atrophy ◽

Whole Body ◽

Diffuse Infiltration ◽

Erdheim Chester Disease ◽

Positron Emission ◽

Fluid Attenuated Inversion Recovery ◽

History Of ◽

Cd 68 ◽

Erdheim Chester ◽

Chester Disease

Abstract Background: Erdheim-Chester disease (ECD), a rare disorder of monocyte/macrophage lineage, has been related to cerebellar dysfunction. To increase the awareness of this rare, protean disease, an unusual, myasthenia-like onset of ECD is reported.Case presentation: A 42-year-old man presented with a 6-year history of mild evening fatigability in his four limbs followed by motor and cognitive symptoms associated with cerebellar atrophy, dentate nuclei and dentato-thalamic pathway degeneration. Magnetic resonance imaging revealed hyperintense signals in T2 and fluid-attenuated inversion recovery sequences within the pons, cerebellar white matter, dentate nuclei and globi pallidi in the absence of any contrast enhancement. Whole-body bone scintigraphy with 99Technetium - methylene diphosphonate and fluorodeoxyglucose-positron emission tomography both revealed symmetric uptake in the lower extremities a finding suggestive of a diagnosis of ECD. Histological examination revealed diffuse infiltration of CD 68+ histiocytes with foamy cytoplasms in the presence of B-type of Rapidly Accelerated Fibrosarcoma protein kinase (BRAF)V600E activating mutation in tumor cells.Conclusion: In patients with myasthenia-like symptoms who test negatively for myasthenia gravis, neurodegenerative diseases, and disorders of the hypothalamus, a diagnosis of ECD should be taken into consideration.

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Extremely low 18F-fluorodeoxyglucose uptake in the brain of a patient with metastatic neuroblastoma and its recovery after chemotherapy: A case report

Acta Radiologica Open ◽

10.1177/20584601211026810 ◽

2021 ◽

Vol 10 (7) ◽

pp. 205846012110268

Author(s):

Yutaka Hoshino ◽

Minako Sugiyama ◽

Kenji Hirata ◽

Shohei Honda ◽

Hitoshi Saito ◽

...

Keyword(s):

Positron Emission Tomography ◽

Central Nervous System ◽

Nervous System ◽

Case Report ◽

Emission Tomography ◽

Whole Body ◽

Fdg Uptake ◽

Positron Emission ◽

The Brain ◽

Abnormal Uptake

Commonly, physiological 18F-fluorodeoxyglucose (FDG) uptake in the brain can be observed in 18F-FDG positron emission tomography. Abnormal uptake of 18F-FDG in the brain suggests disorders of central nervous system. Here, we present a case of extremely low 18F-FDG uptake in the brain of a 4-year-old girl with whole-body metastatic neuroblastoma. Almost missing of physiological 18F-FDG uptake in the brain was ascribed at least partly to the metastatic neuroblastoma. The brain could regain physiological 18F-FDG uptake after chemotherapy.

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