We have located links that may give you full text access.
CASE REPORTS
ENGLISH ABSTRACT
JOURNAL ARTICLE
[Menkes disease: experience in copper salts therapy].
Revista de Neurologia 1999 July 17
INTRODUCTION: Menkes disease is an X linked genetic disorder of copper intracellular transport. The clinical effects are explainable by impaired activity of various copper-dependent enzymes. The classic form of the disease is characterized by: low temperature, impairment of growth, characteristic hair abnormalities (thin, breakable and grey-haired) and seizures with severe developmental retardation from birth. Treatment with various forms of copper salts has been used, but none of them effective.
CLINICAL CASE: We report a patient diagnosed of Menkes disease at 12 months of age. Copper treatment was commenced at 14 months with 100 micrograms/kg daily intravenous infusion of copper sulphate. On the basis of copper and ceruloplasmin plasma levels, doses of treatment were controlled until a maintained dose of 1,000 micrograms intramuscular of copper sulphate every 17 days, until the age of 6 years. The effects of the treatment were marked by the normalization of the biochemical parameters, the growth development and the hair characteristics. However, no significant effect was shown on the seizures or the neurologic impairment. The patient died at the age of 7 years old.
CONCLUSION: Parenteral therapy for Menkes disease with various inorganic copper salts has been shown to get longer clinical course, but no successful effect on the devastating neurodegenerative progression of the disease.
CLINICAL CASE: We report a patient diagnosed of Menkes disease at 12 months of age. Copper treatment was commenced at 14 months with 100 micrograms/kg daily intravenous infusion of copper sulphate. On the basis of copper and ceruloplasmin plasma levels, doses of treatment were controlled until a maintained dose of 1,000 micrograms intramuscular of copper sulphate every 17 days, until the age of 6 years. The effects of the treatment were marked by the normalization of the biochemical parameters, the growth development and the hair characteristics. However, no significant effect was shown on the seizures or the neurologic impairment. The patient died at the age of 7 years old.
CONCLUSION: Parenteral therapy for Menkes disease with various inorganic copper salts has been shown to get longer clinical course, but no successful effect on the devastating neurodegenerative progression of the disease.
Full text links
Related Resources
Trending Papers
Heart failure with preserved ejection fraction: diagnosis, risk assessment, and treatment.Clinical Research in Cardiology : Official Journal of the German Cardiac Society 2024 April 12
Proximal versus distal diuretics in congestive heart failure.Nephrology, Dialysis, Transplantation 2024 Februrary 30
Efficacy and safety of pharmacotherapy in chronic insomnia: A review of clinical guidelines and case reports.Mental Health Clinician 2023 October
World Health Organization and International Consensus Classification of eosinophilic disorders: 2024 update on diagnosis, risk stratification, and management.American Journal of Hematology 2024 March 30
Get seemless 1-tap access through your institution/university
For the best experience, use the Read mobile app
All material on this website is protected by copyright, Copyright © 1994-2024 by WebMD LLC.
This website also contains material copyrighted by 3rd parties.
By using this service, you agree to our terms of use and privacy policy.
Your Privacy Choices
You can now claim free CME credits for this literature searchClaim now
Get seemless 1-tap access through your institution/university
For the best experience, use the Read mobile app