LESCH-NYHAN SYNDROME IN A PEDIATRIC PATIENT

Abstract

Introduction: Lesch-Nyhan syndrome is a rare hereditary congenital pathology linked to the X chromosome that leads to a deficiency of the enzyme hypoxanthine-guanine phosphoribosyl transferase, resulting in hyperuricemia. Description: The patient studied to elucidate the theme was a 6-year-old male child, who through his clinical record, interviews with the patient's legal guardians, photographic record to illustrate the clinical manifestations and literary review about the dysfunction. Discussion: The presence and severity of symptoms are relevant to the prognosis, which may be: neurodevelopmental abnormalities with global developmental delay, involuntary movements, dystonia and self-injurious behavior, with self-injury being the most worrying. The patient studied here presents complete enzyme deficiency. Conclusion: The clinical and laboratory findings found both in the literature and in the patient reinforce the importance of monitoring with a multidisciplinary team so that they can define a diagnosis early and outline possible therapeutic plans.