Complications
If dystonia and spasticity are present, contractures are likely to occur. Contractures can be prevented by optimising pharmacological treatment and by physiotherapy.
Allopurinol and generous fluid intake are key to controlling hyperuricaemia and preventing nephrolithiasis. However, persistent nephrolithiasis may still occur, possibly leading to renal failure.
If hyperuricaemia 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 hyperuricaemia.
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 behaviour. 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 behaviour, 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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