Eleonora Lauricella1, Antonio d'Amati2, Giuseppe Ingravallo2, Maurizio Foresio3, Domenico Ribatti4, Marina de Tommaso4, Mauro Cives1,5, Francesco Girolamo6. 1. Department of Biomedical Sciences and Human Oncology, Clinical Oncology Section, University of Bari School of Medicine, Bari, Italy. 2. Department of Emergency and Organ Transplantation (D.E.T.O.), Pathology Section, University of Bari School of Medicine, Bari, Italy. 3. U.O.C. Urologia, Ospedale SS Annunziata, Taranto, Italy. 4. Department of Basic Medical Sciences, Neurosciences and Sense Organs, Human Anatomy Section, University of Bari School of Medicine, Policlinico Universitario, Piazza Giulio Cesare, 11, 70124, Bari, Italy. 5. National Cancer Research Center, Tumori Institute "Giovanni Paolo II", Bari, Italy. 6. Department of Basic Medical Sciences, Neurosciences and Sense Organs, Human Anatomy Section, University of Bari School of Medicine, Policlinico Universitario, Piazza Giulio Cesare, 11, 70124, Bari, Italy. francesco.girolamo@uniba.it.
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.
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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