Medical genetics / edited by Victor A. McKusick and Robert Claiborne.

Date:
[1973]
Catalogue details

Licence: Attribution-NonCommercial 4.0 International (CC BY-NC 4.0)

Credit: Medical genetics / edited by Victor A. McKusick and Robert Claiborne. Source: Wellcome Collection.

    125/328 (page 103)
    LESCH-NYHAN SYNDROME AND THE X-LINKED URIC ACIDURIAS Arm restraints are often required to protect affected child against his compulsion to self- injury, as seen above. Although standard tests usually indicate mental retardation, such children often appear lively and bright (photo courtesy of Dr. Joseph Dancis). between the ages of six and nine months. A child's mother may notice flecks of brownish-orange crystals in the diaper, because uric acid has pre¬ cipitated out of the urine. A sign of the neurologic deficit is that the child cannot hold up his head as well as a normal child. Athetosis or choreoathe- tosis may develop subsequently; virtu¬ ally all have dysarthria. Another early symptom of the dis¬ ease is frequent vomiting. One mother who carried this genetic defect re¬ called that her two male children who died in infancy vomited repeatedly. She thought they were suffering from some sort of food intolerance and tried all sorts of foods without success. Many children actually have dys¬ phagia. But, in addition, vomiting may also be related to compulsive, aggressive behavior, for the children often throw up when they become up¬ set, frequently drenching those caring for them. The compulsive self-mutilation may begin very early or be considerably delayed. In one of our patients, it did not begin until age 14. Two older pa¬ tients examined by Dr. Nyhan had the enzyme deficiency and were extremely hyperuricemic but neither had mutil¬ ated himself. One, aged 14, had only joint aches, while the other, 27, had gouty arthritis and tophi. They also manifested less choreoathetosis than other patients with the syndrome. Thus a considerable range of expres¬ sion is possible, perhaps reflecting the level of residual enzyme activity. Although these children are men¬ tally retarded by standard tests, one gets the impression they have consid¬ erable intelligence. Their motor han¬ dicap, particularly as far as speech is concerned, is so great that communi¬ cation is difficult. We do know, how¬ ever, that they are fully aware of the painful consequences of their compul¬ sion for mutilation. They want to be protected against self-destruction and they welcome restraints such as pro¬ tective mittens or having their hands tied down. We have found that splints on the elbows are useful, for they pro¬ tect the hands but still allow the pa¬ tient to use them. Once a patient realizes he cannot put his hands in his mouth he relaxes and becomes peace¬ able. If someone is taking the restraint away, on the other hand, a child may shriek in fear because he knows what he is going to do to himself. It appears that psychologic stress is involved in the child's behavior, too. One of these children was in our hospital at the National Institutes of Health for more than a year, and we were finally able to understand his difficult, dysarthric speech. He said that the compulsion to chew his fin¬ gers and lips came on whenever he became anxious or upset. During one period when this boy felt very secure he went for six months without splints on his elbows. When he felt he needed them, he would announce the fact. I came in one morning and found he was wearing them again. I asked him what was the matter and he said, My mother's sick and I'm worried about her. Onç is sometimes tempted to think of this abnormal behavior of the Lesch-Nyhan syndrome patient as fin¬ gernail biting with the volume turned up. These patients are also very aggres¬ sive. When they are younger they bite or pinch others, and learn to swear early. Later on they delight in kicking and hitting people, including their doctors. It is amazing that while their choreoathetosis makes so much of their motion aimless, they can still home in on the physicians' eyeglasses and send them flying across the room. Despite this perverse streak, chil¬ dren with the syndrome are generally well liked by hospital personnel. Com¬ pared with the usual patients in schools or institutions for the retarded, they are bright. They apologize quickly for what they have done, and they laugh whenever something funny occurs. Although one might expect these patients to develop symptoms of gout at an early age, it usually occurs fairly late in the disease. Some develop gouty arthritis; as a group they are also susceptible to kidney damage. We seek to prevent kidney damage and the onset of gout by administer¬ ing allopurinol to block uric acid for- 103