Abstract

BackgroundMultiple hereditary exostoses (MHE) is a rare disease characterized by multiple osteochondromas. Osteochondromas growing into the spinal canal can produce devastating consequences, including permanent neurologic deficits and even death. Routine screening of the entire spinal canal with magnetic resonance imaging (MRI) is a controversial topic lacking a clear consensus or recommendation to guide decision-making. This study presents a case of an intracanal osteochondroma at C1 identified by routine screening and a survey describing current practices of MHE experts.MethodsMHE experts were surveyed. Survey questions addressed multiple aspects of care, including the type of practice center, the volume of patients with MHE, and current screening practices.ResultsA total of 104 experts were contacted, with a total of 26 experts participating in the survey and 23 completing the entire survey. Seventy-two percent of respondents do not perform a routine MRI screen of the spine. For experts that routinely screen, screening is performed across a wide/variable age range (4-18 years).ConclusionScreening protocols for MHE patients to identify osteochondromas within the spinal canal has struggled to reach consensus due to the rarity of the disease. Recent literature provides conflicting advice for patients without neurological symptoms. Our study demonstrates that even experts who are leading the field demonstrate wide practice variability. Most respondents do not routinely perform screening spinal MRI. Due to the wide variability, a national guideline is needed to help guide physician and parental decision-making for patients with MHE. Our case illustrates the potential benefit of identifying an osteochondroma within the spinal canal at a location where further growth could have devastating neurological sequelae.

Highlights

  • Multiple hereditary exostoses (MHE) is a rare disease characterized by multiple osteochondromas

  • This study presents a case of an intracanal osteochondroma at C1 identified by routine screening and a survey describing current practices of MHE experts

  • Screening spinal magnetic resonance imaging (MRI) can be performed in asymptomatic patients with MHE to assess for spinal and intracanal osteochondromas

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Summary

Introduction

Multiple hereditary exostoses (MHE) is a rare autosomal dominant disease characterized by multiple osteochondromas [1]. Osteochondromas invading the spinal canal (intracanal) occur in 4%-27% of patients and can lead to severe neurologic sequelae and even death [5,9,10,11,12]. Isolated healthcare providers must decipher the conflicting body of evidence and make an independent decision regarding whether to perform a screening MRI for their patients with this rare disease. Routine screening of the entire spinal canal with magnetic resonance imaging (MRI) is a controversial topic lacking a clear consensus or recommendation to guide decision-making. This study presents a case of an intracanal osteochondroma at C1 identified by routine screening and a survey describing current practices of MHE experts

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