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

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.

scholarly journals Cerebellar ataxia and exercise intolerance in Erdheim-Chester disease

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.

scholarly journals Bilateral Renal Colic as an Initial Presentation of Erdheim-Chester Disease

2019 ◽  
Vol 2019 ◽  
pp. 1-4
Author(s):  
Julien Sarkis ◽  
Fady Haddad ◽  
Sarah Nasr ◽  
Elie Hanna ◽  
Ahmad Mroueh ◽  
...  
Keyword(s):  
Renal Colic ◽  
Kidney Injury ◽  
Term Treatment ◽  
Whole Body ◽  
Ct Guided ◽  
Erdheim Chester Disease ◽  
Positron Emission ◽  
Long Term Treatment ◽  
Erdheim Chester ◽  
Chester Disease

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.

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

2020 ◽  
Vol 10 (12) ◽  
pp. 2379-2386
Author(s):  
Nunzia Garbino ◽  
Bruna Punzo ◽  
Antonio Todisco ◽  
Giovanni Cirillo ◽  
Carlo Cavaliere
Keyword(s):  
Positron Emission Tomography ◽  
Case Report ◽  
Emission Tomography ◽  
Whole Body ◽  
Erdheim Chester Disease ◽  
Positron Emission ◽  
Erdheim Chester ◽  
Chester Disease

scholarly journals Erdheim-Chester Disease: The Importance of Information Integration

2017 ◽  
Vol 10 (2) ◽  
pp. 613-619 ◽  
Author(s):  
Anna Nikonova ◽  
Khashayar Esfahani ◽  
Guillaume Chausse ◽  
Stephan Probst ◽  
Tina Petrogiannis-Haliotis ◽  
...  
Keyword(s):  
Retroperitoneal Fibrosis ◽  
Braf V600e Mutation ◽  
Braf V600e ◽  
High Dose ◽  
Related Disease ◽  
Igg4 Related Disease ◽  
Erdheim Chester Disease ◽  
History Of ◽  
Erdheim Chester ◽  
Chester Disease

Background: Erdheim-Chester disease (ECD) is a rare non-Langerhans cell histiocytosis disorder that utilizes the RAS-RAF-MEK-ERK pathway. It has a highly variable clinical presentation, where virtually any organ can be involved, thus having the potential of posing a great diagnostic challenge. Over half of the reported cases have the BRAF V600E mutation and have shown a remarkable response to vemurafenib. Case Presentation: We describe herein a patient with a history of stroke-like symptoms and retroperitoneal fibrosis that on initial pathology raised the possibility of IgG4-related disease. However, the patient was refractory to high-dose steroids and progressed further, developing an epicardial soft tissue mass and recurrent neurological symptoms. Integration of the above findings with new information at another hospital about a radiological history of symmetrical lower extremities long bone lesions raised the differential diagnosis of ECD. Molecular analysis of formalin-fixed paraffin-embedded tissue of both of the patient’s retroperitoneal biopsies (the second one of which had shown a small focus of foamy histiocytes, CD68+/CD1a–) was positive for BRAF mutation, confirming the diagnosis of ECD. The patient demonstrated a dramatic and sustained metabolic response to vemurafenib on follow-up positron emission tomography scans. Conclusion: This case highlights the need for developing a high index of suspicion for presentations of retroperitoneal fibrosis that could represent IgG4-related disease but fail to respond to steroids. When unusual multisystem involvement occurs, one should consider a diagnosis of a rare histiocytosis. Vemurafenib appears to be an effective treatment for even advanced cases of both ECD and Langerhans histiocytosis bearing the BRAF V600E mutation.

Erdheim-Chester Disease: Case Report with Aggressive Multiple Organ Manifestations

2020 ◽  
Vol 1 (1) ◽  
pp. 01-03
Author(s):  
Luís Teles
Keyword(s):  
Delayed Diagnosis ◽  
Multiple Organ ◽  
Braf V600e ◽  
High Morbidity ◽  
Diffuse Infiltration ◽  
Erdheim Chester Disease ◽  
Disease Case ◽  
Organ Manifestations ◽  
Erdheim Chester ◽  
Chester Disease

Erdheim-Chester disease (ECD) is a rare non-Langerhans cell, lipid-laden histiocytosis with specific histological and radiological findings. The diagnosis sometimes is established lately in the course of the disease. We present a case of a 64-year-old female with elevated inflammatory markers for one year and symptoms related with her comorbidities, particularly bone pain and short of breath. Past medical history includes a stage III chronic kidney disease, central diabetes diagnosed when she was 38 years old, Paget Disease, metabolic syndrome and ischemic cardiopathy. Computed tomography in the near past showed a tissue densification in the thoracic vertebral column and kidneys with hairy aspect. X-ray of the arms, legs, skullcap, and demonstrated sclerotic changes. F-fluorodeoxyglucose positron emission tomography showed uptake in the skull, mediastinum, abdomen and long bones from arms and legs. Biopsy of the hairy kidney was consent after 4 years of an unknown disease in progression. Histological findings of the biopsy reported a diffuse infiltration by foamy histiocytes. On immunohistochemical staining, the histiocytes were positive for CD68 and negative for CD1 and S100. Mutation of BRAF V600E was present and ECD was established. Tocilizumab was initiated off label due to psychiatric contra indication for interferon use and no clinical conditions for BRAF inhibitors and symptoms started being controlled. The diagnosis of ECD is usually challenging due to the rarity of the disease and clinical overlapping with many other conditions. The rarity and variable presentation of this disease usually leads to delayed diagnosis and to high morbidity and mortality rates from associated complications.

scholarly journals Erdheim-Chester Disease with No Skeletal Bone Involvement and Massive Weight Loss

2017 ◽  
Vol 2017 ◽  
pp. 1-6 ◽  
Author(s):  
Hind Salama ◽  
Suleiman Kojan ◽  
Shaima Abdulrahman ◽  
Fahad Azzumeea ◽  
Ayman Alhejazi
Keyword(s):  
Cerebellar Atrophy ◽  
Braf V600e Mutation ◽  
Braf V600e ◽  
Long Bone ◽  
Common Symptom ◽  
Rare Type ◽  
Skeletal Involvement ◽  
Erdheim Chester Disease ◽  
Erdheim Chester ◽  
Chester Disease

Erdheim-Chester disease (ECD) is a rare type of non-Langerhans cell histiocytosis, with only 550 cases reported worldwide. ECD is characterized by diffuse histiocytic infiltration of multiorgans. The age of presentation of this disease is typically between 40 and 70 years. Bone disease is the most common symptom, as unique radiological findings of long bone sclerosis occur in 96% of cases. Furthermore, BRAF V600E mutation is detected in 60% of ECD cases. In this manuscript, we are describing a unique case of ECD; the patient is younger than most reported cases and has no bone pain or any skeletal involvement. This patient has unintentionally lost about 50% of his body mass and is suffering from progressive cerebellar manifestations with radiological evidence of cerebellar atrophy, in contrast to the usual ECD manifestation of cerebellar infiltration. In addition, the patient has cardiac, retroperitoneal, and perinephric involvement, but he retains his sexual drive and fertility. A tissue biopsy from the retroperitoneal mass displayed typical morphological and immunohistochemical features of ECD, and BRAF V600E mutation was detected. He was treated with pegylated interferon alpha, but his disease progressed and the treatment was changed to vemurafenib to which he had an excellent response at 6 weeks.

Erdheim-Chester disease: an unusual aetiology of bilateral lipomatous perinephric masses

2021 ◽  
Vol 14 (4) ◽  
pp. e239137
Author(s):  
Rashmi Singh ◽  
Priyanka Naranje ◽  
Prashant Ramateke ◽  
Nishikant Avinash Damle
Keyword(s):  
Plasma Cells ◽  
Symptomatic Improvement ◽  
Interferon Α ◽  
Tissue Mass ◽  
Orbital Roof ◽  
Erdheim Chester Disease ◽  
Contrast Enhanced Ct ◽  
Positron Emission ◽  
Erdheim Chester ◽  
Chester Disease

A 53-year-old man presented with a history of progressive abdominal distention for 1 year. Physical examination revealed large palpable masses in the bilateral flank regions. Contrast-enhanced CT of the abdomen showed bilateral, symmetrical large perinephric masses with fat attenuating areas, which was further confirmed on MRI. CT of the paranasal sinuses revealed circumscribed extraconal soft tissue mass in the left orbit, causing scalloping and erosion of the left orbital roof. Fluorine-18 fluorodeoxyglucose (FDG) positron emission tomography/CT showed FDG uptake in the bilateral perinephric masses. Based on imaging appearance, a diagnosis of Erdheim-Chester disease (ECD) was suggested. Ultrasound-guided biopsy from perinephric masses revealed a sheet of histiocytes with sprinkled lymphocytes and plasma cells in the background. The histiocytes were immunopositive for CD68, S100 and immunonegative for CD1a, which confirmed the diagnosis of ECD. The patient was started on interferon-α-2a and showed symptomatic improvement.

scholarly journals Diverse cutaneous manifestations of Erdheim-Chester disease in a woman with a history of Langerhans cell histiocytosis

2016 ◽  
Vol 2 (2) ◽  
pp. 128-131 ◽  
Author(s):  
Julia Pettersen Neckman ◽  
Joyce Kim ◽  
Mahan Mathur ◽  
Peggy Myung ◽  
Michael Girardi
Keyword(s):  
Langerhans Cell Histiocytosis ◽  
Langerhans Cell ◽  
Cutaneous Manifestations ◽  
Erdheim Chester Disease ◽  
History Of ◽  
Erdheim Chester ◽  
Chester Disease
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