Related Experiment Video

Updated: Mar 17, 2026

Multi-exon Skipping Using Cocktail Antisense Oligonucleotides in the Canine X-linked Muscular Dystrophy
10:30

Multi-exon Skipping Using Cocktail Antisense Oligonucleotides in the Canine X-linked Muscular Dystrophy

Published on: May 24, 2016

19.3K

Syringomyelia in hereditary multiple exostosis

Janet M Legare1, Peggy Modaff2, Bermans J Iskandar3

  • 1Division of Genetics and Metabolism, Department of Pediatrics, University of Wisconsin, Madison, Wisconsin. jmlegare@pediatrics.wisc.edu.

American Journal of Medical Genetics. Part A
|August 3, 2016
PubMed

Insights

Hereditary Multiple Exostosis (HME) patients may have a higher incidence of syringomyelia, often linked to tethered cords. Spinal MRI is recommended for early detection in HME patients exhibiting neurological symptoms.

Area of Science:

  • Medical Genetics
  • Neurology
  • Orthopedics

Background:

  • Hereditary Multiple Exostosis (HME) is a genetic disorder characterized by multiple bone tumors (exostoses).
  • Syringomyelia, a fluid-filled cyst within the spinal cord, can cause neurological deficits.
  • The association between HME and syringomyelia, particularly without spinal osteochondromas, requires further investigation.

Purpose of the Study:

  • To investigate the incidence and characteristics of syringomyelia in children with Hereditary Multiple Exostosis.
  • To determine the relationship between syringomyelia, tethered cord, and spinal osteochondromas in HME patients.
  • To assess the utility of spinal MRI in diagnosing neurological complications in HME.

Main Methods:

  • Retrospective review of patients diagnosed with Hereditary Multiple Exostosis (HME) at a specialized clinic.
  • Analysis of clinical data, neurological symptoms, and imaging findings (MRI) of the spine.
  • Correlation of syringomyelia and tethered cord/fibrolipoma presence with HME diagnosis.

Main Results:

  • Five children with HME were identified with co-existing syringomyelia; four also had a tethered cord/fibrolipoma.
  • No spinal osteochondromas were found in these HME patients with syringomyelia.
  • Approximately 13% of HME patients in the study cohort had syringomyelia, suggesting an increased incidence.

Conclusions:

  • Syringomyelia appears to be more common in patients with Hereditary Multiple Exostosis, independent of spinal osteochondromas.
  • Tethered cord/fibrolipoma may be associated with syringomyelia in the HME population.
  • A low threshold for spinal MRI is warranted in HME patients presenting with neurological signs or symptoms.

Keywords:
EXTHMEexostosesfibrolipomahereditary multiple exostosesosteochondromasyrinxtethered cord

More Related Videos

Author Spotlight: Genetically Engineered Mouse Models and Pathological Characterization of Neurofibromatosis Type 1 Associated Tumors08:57

Author Spotlight: Genetically Engineered Mouse Models and Pathological Characterization of Neurofibromatosis Type 1 Associated Tumors

Published on: May 17, 2024

2.7K
Evaluation of Exon Inclusion Induced by Splice Switching Antisense Oligonucleotides in SMA Patient Fibroblasts07:02

Evaluation of Exon Inclusion Induced by Splice Switching Antisense Oligonucleotides in SMA Patient Fibroblasts

Published on: May 11, 2018

14.5K

Related Concept Videos

Pleiotropy01:33

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
43.9K
Pedigree Analysis01:35

Pedigree Analysis

Overview
90.5K
Lysosomal Hydrolases01:22

Lysosomal Hydrolases

Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...
4.7K
Multiple Allele Traits01:49

Multiple Allele Traits

The Concept of Multiple Allelism
38.6K
Satellite Stem Cells and Muscular Dystrophy01:21

Satellite Stem Cells and Muscular Dystrophy

Satellite stem cells or myosatellite cells are quiescent stem cells that Alexander Mauro first identified in 1961. These cells are located between the sarcolemma, the plasma membrane of muscle fibers, and the basal lamina, the connective tissue sheath covering it. These mononucleated cells are activated in response to muscle injury, can transform into myoblasts, and may form or repair muscle fibers. Myosatellite cells can provide additional myonuclei for muscle regeneration or return to a...
2.5K
X-linked Traits01:19

X-linked Traits

In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.
59.3K