eMedicine Specialties > Pediatrics: Genetics and Metabolic Disease > Metabolic Diseases

Wilson Disease: Multimedia

Author: Beth A Carter, MD, Assistant Professor of Pediatrics, Department of Pediatric Gastroenterology, Hepatology and Nutrition, Medical Director, Pediatric Intestinal Rehabilitation Program, Texas Children's Hospital and Baylor College of Medicine
Contributor Information and Disclosures

Updated: Nov 9, 2009

Multimedia

CT scan in a 15-year-old adolescent boy who prese...
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Media file 1: CT scan in a 15-year-old adolescent boy who presented with CNS findings consistent with Wilson disease. CT scan reveals hypodense regions in the basal ganglia (caudate nucleus, putamen, globus pallidus). Differential diagnoses based on this image alone included leukodystrophy, vasculitis, and, less likely, infection. Ventricular enlargement and posterior fossa atrophy may also be seen on brain CT scans in a patient with Wilson disease. The extent of involvement as depicted on CT scans does not provide prognostic information.
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CT scan in a 15-year-old adolescent boy who prese...

CT scan in a 15-year-old adolescent boy who presented with CNS findings consistent with Wilson disease. CT scan reveals hypodense regions in the basal ganglia (caudate nucleus, putamen, globus pallidus). Differential diagnoses based on this image alone included leukodystrophy, vasculitis, and, less likely, infection. Ventricular enlargement and posterior fossa atrophy may also be seen on brain CT scans in a patient with Wilson disease. The extent of involvement as depicted on CT scans does not provide prognostic information.

More on Wilson Disease

Overview: Wilson Disease
Differential Diagnoses & Workup: Wilson Disease
Treatment & Medication: Wilson Disease
Follow-up: Wilson Disease
Multimedia: Wilson Disease
References
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References

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  2. Stuehler B, Reichert J, Stremmel W, Schaefer M. Analysis of the human homologue of the canine copper toxicosis gene MURR1 in Wilson disease patients. J Mol Med. Sep 2004;82(9):629-34. [Medline].

  3. Stapelbroek JM, Bollen CW, van Amstel JK, et al. The H1069Q mutation in ATP7B is associated with late and neurologic presentation in Wilson disease: results of a meta-analysis. J Hepatol. Nov 2004;41(5):758-63. [Medline].

  4. Yoshitoshi EY, Takada Y, Oike F, Sakamoto S, Ogawa K, Kanazawa H. Long-term outcomes for 32 cases of Wilson's disease after living-donor liver transplantation. Transplantation. Jan 27 2009;87(2):261-7. [Medline].

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  6. Leiros da Costa MD, Spitz M, Bacheschi LA, Leite CC, Lucato LT, Barbosa ER. Wilson's disease: two treatment modalities. Correlations to pretreatment and posttreatment brain MRI. Neuroradiology. May 29 2009;[Medline].

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  9. Bull PC, Thomas GR, Rommens JM, Forbes JR, Cox DW. The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene. Nat Genet. Dec 1993;5(4):327-37. [Medline].

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  17. McCullough AJ, Fleming CR, Thistle JL, et al. Diagnosis of Wilson's disease presenting as fulminant hepatic failure. Gastroenterology. Jan 1983;84(1):161-7. [Medline].

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  19. Menkes JH. Menkes disease and Wilson disease: two sides of the same copper coin. Part II: Wilson disease. Eur J Paediatr Neurol. 1999;3(6):245-53. [Medline].

  20. National Digestive Diseases Information Clearinghouse (NDDIC). Available at http://digestive.niddk.nih.gov/ddiseases/pubs/wilson/.

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  26. Wilson's Disease Association. Available at http://www.wilsonsdisease.org/.

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Further Reading

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Keywords

Wilson disease, hepatolenticular degeneration, WD, Wilson's disease, ceruloplasmin, copper accumulation, copper metabolism dysfunction, CNS disorder, cirrhosis, liver disease, hepatic disease, Kayser-Fleischer rings, neurologic disorder, copper deposition

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Contributor Information and Disclosures

Author

Beth A Carter, MD, Assistant Professor of Pediatrics, Department of Pediatric Gastroenterology, Hepatology and Nutrition, Medical Director, Pediatric Intestinal Rehabilitation Program, Texas Children's Hospital and Baylor College of Medicine
Beth A Carter, MD is a member of the following medical societies: American Gastroenterological Association, American Liver Foundation, and North American Society for Pediatric Gastroenterology, Hepatology and Nutrition
Disclosure: Nothing to disclose.

Medical Editor

Erawati V Bawle, MD, FAAP, FACMG, Division of Genetic and Metabolic Disorders, Children's Hospital of Michigan; Professor (Clinician-Educator), Department of Pediatrics, Wayne State University School of Medicine
Erawati V Bawle, MD, FAAP, FACMG 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.

Pharmacy Editor

Mary L Windle, PharmD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy, Pharmacy Editor, eMedicine
Disclosure: Pfizer Inc Stock Investment from financial planner; Avanir Pharma Stock Investment from financial planner ; WebMD Salary and stock Employment and investment from financial planner

Managing Editor

Robert Anthony Saul, MD, Clinical Professor, Department of Pediatrics, University of South Carolina; Senior Clinical Geneticist, Greenwood Genetic Center
Robert Anthony Saul, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics, and American College of Physician Executives
Disclosure: Nothing to disclose.

CME Editor

Paul D Petry, DO, FACOP, FAAP, Consulting Staff, Freeman Pediatric Care, Freeman Health System
Paul D Petry, DO, FACOP, FAAP is a member of the following medical societies: American Academy of Osteopathy, American Academy of Pediatrics, American College of Osteopathic Pediatricians, and American Osteopathic Association
Disclosure: Nothing to disclose.

Chief Editor

Bruce Buehler, MD, Professor, Department of Pediatrics, Pathology and Microbiology, Executive Director, Hattie B Munroe Center for Human Genetics, University of Nebraska Medical Center
Bruce Buehler, MD is a member of the following medical societies: American Academy for Cerebral Palsy and Developmental Medicine, American Academy of Pediatrics, American Association on Mental Retardation, American College of Medical Genetics, American College of Physician Executives, American Medical Association, and Nebraska Medical Association
Disclosure: Nothing to disclose.

 
 
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