Complications
If dystonia and spasticity are present, contractures are likely to occur. Contractures can be prevented by optimizing pharmacologic treatment and by physical therapy.
Allopurinol and generous fluid intake are key to controlling hyperuricemia and preventing nephrolithiasis. However, persistent nephrolithiasis may still occur, possibly leading to renal failure.
If hyperuricemia persists, arthritis may occur as a result of the formation of uric acid crystals in synovial fluid. This can be prevented by carefully controlling the hyperuricemia.
Persistent nephrolithiasis may lead to urinary infections and urosepsis. Adequate treatment with allopurinol and generous fluid intake are mandatory, and preventive antibiotics are sometimes helpful.
Skin abrasions and soft tissue defects may occur as a result of self-injurious behavior. Subsequently, wound infections may occur.
Hip dysplasia may occur in Lesch-Nyhan disease (LND), presumably caused by muscle imbalance. Hip subluxation and luxation, sometimes caused by self-injurious behavior, may require surgical intervention.[66]
Patients might experience progressive dysphagia and die after aspiration and pneumonia. Percutaneous endoscopic gastrostomy (PEG) should be considered in patients with frequent choking or insufficient intake.
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