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Neurofibromatosis Type 1 Differential Diagnoses

  • Author: David T Hsieh, MD, FAAP; Chief Editor: Amy Kao, MD  more...
 
Updated: Jul 27, 2016
 
 

Diagnostic Considerations

See the list below:

  • Café-au-lait spots
  • Legius syndrome (SPRED1 -related café-au-lait spots and freckles)[18]
  • McCune-Albright syndrome
  • Acoustic neuroma
  • Brainstem syndromes
  • Spinal injury

Differential Diagnoses

 
 
Contributor Information and Disclosures
Author

David T Hsieh, MD, FAAP Assistant Professor of Pediatrics, Assistant Professor of Neurology, Uniformed Services University of the Health Sciences, F Edward Hebert School of Medicine; Adjunct Assistant Professor of Pediatrics, Adjunct Assistant Professor of Neurology, University of Texas Health Science Center at San Antonio School of Medicine

David T Hsieh, MD, FAAP is a member of the following medical societies: American Academy of Neurology, American Academy of Pediatrics, American Epilepsy Society, Child Neurology Society

Disclosure: Nothing to disclose.

Coauthor(s)

Luis O Rohena, MD Chief, Medical Genetics, San Antonio Military Medical Center; Assistant Professor of Pediatrics, Uniformed Services University of the Health Sciences, F Edward Hebert School of Medicine; Assistant Professor of Pediatrics, University of Texas Health Science Center at San Antonio

Luis O Rohena, MD is a member of the following medical societies: American Academy of Pediatrics, American Chemical Society, American College of Medical Genetics and Genomics, American Society of Human Genetics

Disclosure: Nothing to disclose.

Specialty Editor Board

Francisco Talavera, PharmD, PhD Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Received salary from Medscape for employment. for: Medscape.

Kenneth J Mack, MD, PhD Senior Associate Consultant, Department of Child and Adolescent Neurology, Mayo Clinic

Kenneth J Mack, MD, PhD is a member of the following medical societies: American Academy of Neurology, Child Neurology Society, Phi Beta Kappa, Society for Neuroscience

Disclosure: Nothing to disclose.

Chief Editor

Amy Kao, MD Attending Neurologist, Children's National Medical Center

Amy Kao, MD is a member of the following medical societies: American Academy of Neurology, American Epilepsy Society, Child Neurology Society

Disclosure: Have stock from Cellectar Biosciences; have stock from Varian medical systems; have stock from Express Scripts.

Additional Contributors

Ann M Neumeyer, MD Medical Director, Lurie Center for Autism; Assistant Professor of Neurology, Harvard Medical School; Child Neurologist, Massachusetts General Hospital

Ann M Neumeyer, MD is a member of the following medical societies: American Academy of Neurology, Child Neurology Society, Massachusetts Medical Society

Disclosure: Nothing to disclose.

Acknowledgements

The view(s) expressed herein are those of the author(s) and do not reflect the official policy or position of Brooke Army Medical Center, the U.S. Army Medical Department, the U.S. Army Office of the Surgeon General, the Department of the Army, the Department of the Air Force, Department of Defense or the U.S. Government.

Beth A Pletcher, MD Associate Professor, Co-Director of The Neurofibromatosis Center of New Jersey, Department of Pediatrics, University of Medicine and Dentistry of New Jersey

Beth A Pletcher, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics, American Medical Association, and American Society of Human Genetics

Disclosure: Nothing to disclose.

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Previous
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Café-au-lait spots in a 4-year-old boy.
Axillary freckles.
Inguinal freckles.
Multiple neurofibromas in a 28-year-old man.
Plexiform neurofibroma of the right thigh.
Lisch nodules.
Radial and ulnar bowing and obliteration of the intramedullary spaces.
Unidentified bright object (UBO) within the brain parenchyma.
Left optic nerve glioma with thickening of the nerve and proptosis.
Below-the-knee amputation for tibial pseudarthrosis.
The young woman pictured here has a plexiform neurofibroma of the eyelid.
 
 
 
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