Dermatologic Manifestations of Menkes Kinky Hair Disease Treatment & Management

Updated: Jun 25, 2018
  • Author: Suguru Imaeda, MD; Chief Editor: William D James, MD  more...
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Treatment

Medical Care

Medical care is mainly supportive for Menkes kinky hair syndrome patients.

The administration of parenteral copper is ineffective at influencing the clinical course and fatal outcome. However, early parenteral administration has been demonstrated to prevent some neurological disturbances. [26] Some patients who receive copper-histidinate supplementation have serum copper and ceruloplasmin levels in the reference range. [27, 28] Despite these levels, their clinical features are unaltered. A copper and disulfiram complex is currently being developed to enhance the delivery of copper via the intestinal route. [29]

Intracerebroventricular copper histidine injection in a rat model of Menkes disease restored the brain copper concentration, suggesting the possibility of this method as a novel treatment approach in Menkes disease infants with severe mutations. [30]

The use of antiseizure medications may be indicated.

One clinical trial measured plasma dopamine, norepinephrine, dihydroxyphenylacetic acid, and dihydroxyphenylglycol levels in 81 infants at risk. In 12 newborns who met the eligibility criteria, copper-replacement therapy was begun within 22 days after birth. Survival and neurodevelopment was tracked longitudinally for 1.5-8 years; survival at a median follow-up of 4.6 years was 92%, compared with 13% at a median follow-up of 1.8 years for a historical control group of 15 late-diagnosis and late-treatment patients. Two of the 12 patients had normal neurodevelopment and brain myelination. [31]

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Surgical Care

Patients with Menkes kinky hair syndrome frequently have multiple issues that complicate anesthetic management. [32, 33] Physical characteristics (eg, small chin, prominent upper incisors) alter airway anatomy, and marked dental fragility make airway management potentially difficult. Alternatives to traditional direct laryngoscopy may be more suitable for these patients. The propensity for tooth fracture during laryngoscopic manipulation may be related to the defective collagen and connective-tissue formation that are characteristic of Menkes kinky hair syndrome. [34]

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Consultations

Consult a neurologist for seizure management. [35]

Consult a geneticist for counseling and prenatal testing. Prenatal diagnosis by means of DNA mutational analysis (preferred method) may be performed. Copper-64 incorporation by cultured chorionic villus cells or amniocytes may be observed.

Carrier status can be determined by observing copper-64 uptake in cultured fibroblasts or by means of DNA mutational analysis, which is the preferred method. Denaturing high-performance liquid chromatography has been used effectively for mutation screening in patients with Menkes disease. [36]

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Long-Term Monitoring

Seizure management is the most important aspect of outpatient care in Menkes kinky hair syndrome.

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