[LORENZO'S OIL AND ADRENOLEUKODYSTROPHY EXAMINING AN ARTIFICIAL INTELLIGENCE TOOL INTENDED FOR CONDUCTING LITERATURE SEARCHES AND ANALYSES].
Journal:
Harefuah
PMID:
39692366
Abstract
Adrenoleukodystrophy is a genetic metabolic disorder characterized by a heterogeneous phenotype. Its severe form, known as cerebral adrenoleukodystrophy, involves unpredictable cerebral damage and progressive central nervous system deterioration. This rare condition became famous because of a Hollywood movie in which the Italian parents of a child with the condition supposedly discovered a medication for treating the condition. But real life does not emulate movies and hematopoietic stem cell transplantation remains the standard of care for patients diagnosed at an early disease stage. This article describes a patient with cerebral adrenoleukodystrophy diagnosed at an advanced disease stage. The literature search aimed to identify therapies to prevent further deterioration suggested autologous hematopoietic stem cell-based gene therapy and metabolic therapies. Consensus is a Chat GPT-based AI tool trained on millions of scientific publications, intended for conducting evidence-based literature searches and analyses. The case presented was used to conduct a parallel literature review using Consensus. While the generated output contained no hallucinations (a problem often seen with other large language models), the quality of the selected articles and their interpretation in the context of the specific case fell short of that achieved by experienced researchers or physicians.