Lesch Nyhan Syndrome: Clinical Presentation and Biochemical Diagnosis A 3-year-old child was brought to the hospital with a complaint of self-mutilation. He had a chronic ulcer on the buccal surface of his lips, and self-inflicted trauma by biting his finger. History revealed that severe motor retardation was apparent at the age 6 months old and he has never been able to lift or support his trunk. The growth chart showed that he has growth retardation. Biochemical analysis was performed which is represented below : Serum Uric acid: 9.0 mg/dL Blood Urea : 32 mg/dL Serum Sodium : 139 mmol/l Potassium: 5.1 mmol/l Calcium 39 mmol/l Total Protein: 70 g/L Albumin: 23 g/L Urinary Uric acid: 160mg/100 ml Urinary Glucose: Absent Urinary Protein: Absent Microscopic urine examination: triphosphate crystals Diagnosis? Provisional Diagnosis : Based on the behavioral pattern of self-mutilation, growth retardation, dystonia, and increased serum and ...