Skull Base Manifestations of Erdheim-Chester Disease: A Case Series and Systematic Review

John P. Marinelli, Pierce A. Peters, Augusto Vaglio, Jamie J. Van Gompel, John I. Lane, Matthew L. Carlson

Research output: Contribution to journalArticle

Abstract

BACKGROUND: Erdheim-Chester disease (ECD) is a rare, non-Langerhans cell histiocytosis. Up to 50% of patients develop central nervous system involvement, and a subset of these patients can present with isolated tumor-like masses. OBJECTIVE: To describe the skull base manifestations of ECD with an emphasis on aspects most pertinent to surgeons who may be referred such patients for primary evaluation. METHODS: Scopus, Web of Science, and PubMed were searched from database inception to May 1, 2018 for articles reporting skull base ECD. An institutional retrospective analysis of all patients treated at the authors' institution since January 1, 1996 was also performed to supplement these data. RESULTS: Of 465 retrieved articles, 18 studies totaling 20 patients met inclusion criteria. Institutional review identified an additional 7 patients. Collectively, the median age at diagnosis was 49 yr (interquartile range, 42-58) with a 4:1 male-to-female ratio. Patients frequently presented with diplopia (48%), headache (30%), dysarthria (22%), and vertigo or imbalance (22%), though trigeminal hypesthesia (11%), facial nerve paresis (7%), hearing loss (7%), and trigeminal neuralgia (7%) were also observed. ECD commonly mimicked meningioma (33%), trigeminal schwannoma (8%), neurosarcoidosis (8%), and skull base lymphoma (8%). CONCLUSION: Discrete skull base lesions frequently mimic more common pathology such as meningioma or cranial nerve schwannomas. Medical therapy comprises the initial treatment for symptomatic skull base disease. Surgical resection is not curative and the utility of surgical intervention is largely limited to biopsy to establish diagnosis and/or surgical debulking to relieve mass effect.

Original languageEnglish (US)
Pages (from-to)E693-E701
JournalClinical neurosurgery
Volume85
Issue number4
DOIs
StatePublished - Oct 1 2019

Fingerprint

Erdheim-Chester Disease
Skull Base
Neurilemmoma
Meningioma
Non-Langerhans-Cell Histiocytosis
Dysarthria
Trigeminal Neuralgia
Diplopia
Hypesthesia
Cranial Nerves
Facial Paralysis
Vertigo
Facial Nerve
Hearing Loss
PubMed
Headache
Lymphoma
Central Nervous System
Databases
Pathology

Keywords

  • cranial base
  • cranial neuropathy
  • Erdheim-Chester disease
  • histiocytosis
  • meningioma
  • schwannoma
  • skull base

ASJC Scopus subject areas

  • Surgery
  • Clinical Neurology

Cite this

Skull Base Manifestations of Erdheim-Chester Disease : A Case Series and Systematic Review. / Marinelli, John P.; Peters, Pierce A.; Vaglio, Augusto; Van Gompel, Jamie J.; Lane, John I.; Carlson, Matthew L.

In: Clinical neurosurgery, Vol. 85, No. 4, 01.10.2019, p. E693-E701.

Research output: Contribution to journalArticle

Marinelli, John P. ; Peters, Pierce A. ; Vaglio, Augusto ; Van Gompel, Jamie J. ; Lane, John I. ; Carlson, Matthew L. / Skull Base Manifestations of Erdheim-Chester Disease : A Case Series and Systematic Review. In: Clinical neurosurgery. 2019 ; Vol. 85, No. 4. pp. E693-E701.
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abstract = "BACKGROUND: Erdheim-Chester disease (ECD) is a rare, non-Langerhans cell histiocytosis. Up to 50{\%} of patients develop central nervous system involvement, and a subset of these patients can present with isolated tumor-like masses. OBJECTIVE: To describe the skull base manifestations of ECD with an emphasis on aspects most pertinent to surgeons who may be referred such patients for primary evaluation. METHODS: Scopus, Web of Science, and PubMed were searched from database inception to May 1, 2018 for articles reporting skull base ECD. An institutional retrospective analysis of all patients treated at the authors' institution since January 1, 1996 was also performed to supplement these data. RESULTS: Of 465 retrieved articles, 18 studies totaling 20 patients met inclusion criteria. Institutional review identified an additional 7 patients. Collectively, the median age at diagnosis was 49 yr (interquartile range, 42-58) with a 4:1 male-to-female ratio. Patients frequently presented with diplopia (48{\%}), headache (30{\%}), dysarthria (22{\%}), and vertigo or imbalance (22{\%}), though trigeminal hypesthesia (11{\%}), facial nerve paresis (7{\%}), hearing loss (7{\%}), and trigeminal neuralgia (7{\%}) were also observed. ECD commonly mimicked meningioma (33{\%}), trigeminal schwannoma (8{\%}), neurosarcoidosis (8{\%}), and skull base lymphoma (8{\%}). CONCLUSION: Discrete skull base lesions frequently mimic more common pathology such as meningioma or cranial nerve schwannomas. Medical therapy comprises the initial treatment for symptomatic skull base disease. Surgical resection is not curative and the utility of surgical intervention is largely limited to biopsy to establish diagnosis and/or surgical debulking to relieve mass effect.",
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N2 - BACKGROUND: Erdheim-Chester disease (ECD) is a rare, non-Langerhans cell histiocytosis. Up to 50% of patients develop central nervous system involvement, and a subset of these patients can present with isolated tumor-like masses. OBJECTIVE: To describe the skull base manifestations of ECD with an emphasis on aspects most pertinent to surgeons who may be referred such patients for primary evaluation. METHODS: Scopus, Web of Science, and PubMed were searched from database inception to May 1, 2018 for articles reporting skull base ECD. An institutional retrospective analysis of all patients treated at the authors' institution since January 1, 1996 was also performed to supplement these data. RESULTS: Of 465 retrieved articles, 18 studies totaling 20 patients met inclusion criteria. Institutional review identified an additional 7 patients. Collectively, the median age at diagnosis was 49 yr (interquartile range, 42-58) with a 4:1 male-to-female ratio. Patients frequently presented with diplopia (48%), headache (30%), dysarthria (22%), and vertigo or imbalance (22%), though trigeminal hypesthesia (11%), facial nerve paresis (7%), hearing loss (7%), and trigeminal neuralgia (7%) were also observed. ECD commonly mimicked meningioma (33%), trigeminal schwannoma (8%), neurosarcoidosis (8%), and skull base lymphoma (8%). CONCLUSION: Discrete skull base lesions frequently mimic more common pathology such as meningioma or cranial nerve schwannomas. Medical therapy comprises the initial treatment for symptomatic skull base disease. Surgical resection is not curative and the utility of surgical intervention is largely limited to biopsy to establish diagnosis and/or surgical debulking to relieve mass effect.

AB - BACKGROUND: Erdheim-Chester disease (ECD) is a rare, non-Langerhans cell histiocytosis. Up to 50% of patients develop central nervous system involvement, and a subset of these patients can present with isolated tumor-like masses. OBJECTIVE: To describe the skull base manifestations of ECD with an emphasis on aspects most pertinent to surgeons who may be referred such patients for primary evaluation. METHODS: Scopus, Web of Science, and PubMed were searched from database inception to May 1, 2018 for articles reporting skull base ECD. An institutional retrospective analysis of all patients treated at the authors' institution since January 1, 1996 was also performed to supplement these data. RESULTS: Of 465 retrieved articles, 18 studies totaling 20 patients met inclusion criteria. Institutional review identified an additional 7 patients. Collectively, the median age at diagnosis was 49 yr (interquartile range, 42-58) with a 4:1 male-to-female ratio. Patients frequently presented with diplopia (48%), headache (30%), dysarthria (22%), and vertigo or imbalance (22%), though trigeminal hypesthesia (11%), facial nerve paresis (7%), hearing loss (7%), and trigeminal neuralgia (7%) were also observed. ECD commonly mimicked meningioma (33%), trigeminal schwannoma (8%), neurosarcoidosis (8%), and skull base lymphoma (8%). CONCLUSION: Discrete skull base lesions frequently mimic more common pathology such as meningioma or cranial nerve schwannomas. Medical therapy comprises the initial treatment for symptomatic skull base disease. Surgical resection is not curative and the utility of surgical intervention is largely limited to biopsy to establish diagnosis and/or surgical debulking to relieve mass effect.

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