Lesch-Nyhan Syndrome: Causes, Symptoms, Diagnosis & Treatment | High-Yield Neurology
Lesch-Nyhan Syndrome: Pathophysiology, Clinical Features & Management
Lesch-Nyhan Syndrome (LNS) is a rare X-linked recessive metabolic disorder caused by HGPRT enzyme deficiency, leading to excessive uric acid production. This results in neurological dysfunction, self-mutilation, and gout-like symptoms. Early recognition is crucial for symptom management and improving quality of life. In this high-yield medical video, we cover:
Pathophysiology – HGPRT deficiency & impaired purine salvage pathway
Clinical Presentation – Self-injurious behavior, dystonia, hyperuricemia, kidney stones, and intellectual disability
Genetics & Risk Factors – X-linked recessive inheritance affecting males
Diagnostic Approach – Serum uric acid levels, HGPRT enzyme assay, and genetic testing
Treatment & Management – Allopurinol for hyperuricemia, symptom control for dystonia, and behavioral therapies
Clinical Vignettes – Case-based learning to reinforce key concepts
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