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Recurrent petit mal seizures in Erdheim-Chester disease mimicking an intra-axial brain tumor: illustrative case

BACKGROUND: Erdheim-Chester disease (ECD) is a rare non–Langerhans cell histiocytosis characterized histologically by foamy histiocytes and Touton giant cells in a background of fibrosis. Bone pain with long bone osteosclerosis is highly specific for ECD. Central nervous system involvement is rare,...

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Autores principales: Stuebe, Caren M, Jenson, Amanda V, Lines, Tanner W, Holloman, Ashley M, Cykowski, Matthew D, Fung, Steve H, Fisher, Ronald E, McClain, Kenneth L, Baskin, David S
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Association of Neurological Surgeons 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10584085/
https://www.ncbi.nlm.nih.gov/pubmed/37870750
http://dx.doi.org/10.3171/CASE23248
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author Stuebe, Caren M
Jenson, Amanda V
Lines, Tanner W
Holloman, Ashley M
Cykowski, Matthew D
Fung, Steve H
Fisher, Ronald E
McClain, Kenneth L
Baskin, David S
author_facet Stuebe, Caren M
Jenson, Amanda V
Lines, Tanner W
Holloman, Ashley M
Cykowski, Matthew D
Fung, Steve H
Fisher, Ronald E
McClain, Kenneth L
Baskin, David S
author_sort Stuebe, Caren M
collection PubMed
description BACKGROUND: Erdheim-Chester disease (ECD) is a rare non–Langerhans cell histiocytosis characterized histologically by foamy histiocytes and Touton giant cells in a background of fibrosis. Bone pain with long bone osteosclerosis is highly specific for ECD. Central nervous system involvement is rare, although dural, hypothalamic, cerebellar, brainstem, and sellar region involvement has been described. OBSERVATIONS: A 59-year-old man with a history of ureteral obstruction, medically managed petit mal seizures, and a left temporal lesion followed with serial magnetic resonance imaging (MRI) presented with worsening seizure control. Repeat MRI identified bilateral amygdala region lesions. Gradual growth of the left temporal lesion over 1 year with increasing seizure frequency prompted resection. A non–Langerhans cell histiocytosis with a BRAF V600E mutation was identified on pathology. Imaging findings demonstrated retroperitoneal fibrosis and long bone osteosclerosis with increased fluorodeoxyglucose uptake that, together with the neuropathologic findings, were diagnostic of ECD. LESSONS: This case of biopsy-proven ECD is unique in that the singular symptom was seizures well controlled with medical management in the presence of similarly located bilateral anterior mesial temporal lobe lesions. Although ECD is rare intracranially, its variable imaging presentation, including the potential to mimic seizure-associated medial temporal lobe tumors, emphasizes the need for a wide differential diagnosis.
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spelling pubmed-105840852023-10-19 Recurrent petit mal seizures in Erdheim-Chester disease mimicking an intra-axial brain tumor: illustrative case Stuebe, Caren M Jenson, Amanda V Lines, Tanner W Holloman, Ashley M Cykowski, Matthew D Fung, Steve H Fisher, Ronald E McClain, Kenneth L Baskin, David S J Neurosurg Case Lessons Case Lesson BACKGROUND: Erdheim-Chester disease (ECD) is a rare non–Langerhans cell histiocytosis characterized histologically by foamy histiocytes and Touton giant cells in a background of fibrosis. Bone pain with long bone osteosclerosis is highly specific for ECD. Central nervous system involvement is rare, although dural, hypothalamic, cerebellar, brainstem, and sellar region involvement has been described. OBSERVATIONS: A 59-year-old man with a history of ureteral obstruction, medically managed petit mal seizures, and a left temporal lesion followed with serial magnetic resonance imaging (MRI) presented with worsening seizure control. Repeat MRI identified bilateral amygdala region lesions. Gradual growth of the left temporal lesion over 1 year with increasing seizure frequency prompted resection. A non–Langerhans cell histiocytosis with a BRAF V600E mutation was identified on pathology. Imaging findings demonstrated retroperitoneal fibrosis and long bone osteosclerosis with increased fluorodeoxyglucose uptake that, together with the neuropathologic findings, were diagnostic of ECD. LESSONS: This case of biopsy-proven ECD is unique in that the singular symptom was seizures well controlled with medical management in the presence of similarly located bilateral anterior mesial temporal lobe lesions. Although ECD is rare intracranially, its variable imaging presentation, including the potential to mimic seizure-associated medial temporal lobe tumors, emphasizes the need for a wide differential diagnosis. American Association of Neurological Surgeons 2023-10-16 /pmc/articles/PMC10584085/ /pubmed/37870750 http://dx.doi.org/10.3171/CASE23248 Text en © 2023 The authors https://creativecommons.org/licenses/by-nc-nd/4.0/CC BY-NC-ND 4.0 (http://creativecommons.org/licenses/by-nc-nd/4.0/ (https://creativecommons.org/licenses/by-nc-nd/4.0/) )
spellingShingle Case Lesson
Stuebe, Caren M
Jenson, Amanda V
Lines, Tanner W
Holloman, Ashley M
Cykowski, Matthew D
Fung, Steve H
Fisher, Ronald E
McClain, Kenneth L
Baskin, David S
Recurrent petit mal seizures in Erdheim-Chester disease mimicking an intra-axial brain tumor: illustrative case
title Recurrent petit mal seizures in Erdheim-Chester disease mimicking an intra-axial brain tumor: illustrative case
title_full Recurrent petit mal seizures in Erdheim-Chester disease mimicking an intra-axial brain tumor: illustrative case
title_fullStr Recurrent petit mal seizures in Erdheim-Chester disease mimicking an intra-axial brain tumor: illustrative case
title_full_unstemmed Recurrent petit mal seizures in Erdheim-Chester disease mimicking an intra-axial brain tumor: illustrative case
title_short Recurrent petit mal seizures in Erdheim-Chester disease mimicking an intra-axial brain tumor: illustrative case
title_sort recurrent petit mal seizures in erdheim-chester disease mimicking an intra-axial brain tumor: illustrative case
topic Case Lesson
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10584085/
https://www.ncbi.nlm.nih.gov/pubmed/37870750
http://dx.doi.org/10.3171/CASE23248
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