Further Outpatient Care

Several points can be made concerning the general care of patients with Menkes kinky hair disease (MKHD) and their families.

Genetic counseling is a very important element. As an X-linked recessive trait, the Menkes gene is transmitted by asymptomatic females who are carriers to 50% of their male offspring (who are affected) and to 50% of their female offspring (who are gene carriers). Conversely, 50% of both male and female offspring are healthy. Thus, the overall risk of a child with Menkes kinky hair disease for a woman who is a documented female carrier is 1 in 4 (25%) for each pregnancy (ie, 1 in 2 chance that the sex is male, multiplied times the 1 in 2 chance that the male inherits the Menkes gene). Offer counseling, carrier testing, and, if indicated, prenatal diagnosis to female relatives of a documented gene carrier.

Concerning pediatric immunizations in infants with Menkes kinky hair disease, no specific contraindications are noted, now that the pertussis component is acellular. Seasonal vaccination against influenza is recommended.

Prophylaxis against urinary tract infections (eg, Bactrim at 2 mg/kg orally every day) is warranted in patients with bladder diverticula.

Physical and/or occupational therapy is useful stimulation and can maximize developmental attainment in patients with Menkes kinky hair disease. Such therapy is tailored to the specific child based on his level of neurologic function. Aspects of physical and/or occupational therapy can also be taught to parents for application in the home.

Menkes kinky hair disease has a substantial emotional impact on the family, and psychosocial support often can be valuable. Just as no health is as vibrant as that of a child, no sickness is as dramatic. Parents of patients with Menkes kinky hair disease often have the pain of watching the transition from apparent good health to essentially irrevocable illness within the first several months of life. Anger, disbelief, guilt, and anxiety regarding an uncertain future are common reactions. Concerning the latter, no reliable way to predict the life span of children with Menkes kinky hair disease is known; however, most of these children die by the time they are aged 3 years. Pneumonia leading to respiratory failure is a common cause of death, although some patients with Menkes kinky hair disease die suddenly in the absence of any acute medical process.

Deterrence/Prevention

Genetic counseling and prenatal diagnosis (when available and desired) can be helpful in preventing Menkes kinky hair disease. However, an estimated one third of all incidents of Menkes kinky hair disease result from new mutations. Guidelines for prenatal screening and diagnosis have been established.^[19]

Reliable prenatal diagnosis of Menkes kinky hair disease on biochemical grounds has been offered by the John F. Kennedy Institute in Glostrup, Denmark, for nearly 25 years. This testing is indicated for pregnancies in known or suspected female carriers. Carrier status must be suspected in a woman and her female relatives (mother, sisters, daughters) following the diagnosis of Menkes kinky hair disease in a son. Recurrence risk in future pregnancies of such women may be as high as 25%.

Abnormal egress of radiolabeled copper in cultured amniocytes (reduced compared to normal, ie, a higher percentage of copper retained by cells) was the basis of the original prenatal testing. When techniques for obtaining fetal tissue earlier in gestation (ie, chorionic villus sampling) became available, diagnostic criteria derived from analysis of those tissues were developed (elevated copper content and abnormal copper egress in cultured chorionic cells). In using chorionic villus copper content as the marker, avoiding contamination from the instrument used to obtain the sample or from incomplete separation of the maternal decidua is necessary. The most reliable biochemical marker using chorionic villus specimens has been retention of radiolabeled copper in cultured chorionic cells after a 20-hour pulse and 24-hour chase. Knowledge of the gene for Menkes kinky hair disease enables prenatal testing by molecular means for families in which the proband's mutation has been characterized.

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Media Gallery

Classic Menkes kinky hair disease in an 8-month-old male infant. Note the abnormal hair, eyelid ptosis, and jowly facial appearance.
Adolescent patient with typical occipital horn syndrome. Note elbow dislocations and genu valgum. Radiographs exhibited bilateral occipital exostoses of the skull and club-shaped distal clavicles.
Successfully treated classic Menkes kinky hair disease. Diagnosis at birth enabled copper therapy to begin when the infant was aged 8 days. The child walked independently when aged 14 months. This patient's mutation (IVS8,AS,dup5) was associated with a transcript harboring a small in-frame deletion, potentially encoding a functional copper adenosine triphosphatase (ATPase).
Menkes kinky hair disease copper adenosine triphosphatase (see text for detailed discussion).