Keywords
Genetic testing
Patient care team
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Abstract
Objective: To highlight the contributions of genetic counseling and multidisciplinary support in a case report of adrenoleukodystrophy in the public health service. Case description: This study was conducted through the follow-up and analysis of medical records in the electronic health record system of patients at a public reference hospital for rehabilitation in Goiás, as a retrospective and observational study. It is a case of a 5-year-old male child with a history of neurological and behavioral disorders, clinical regression, and a clinical diagnosis of autism spectrum disorder (ASD). A comprehensive collection of clinical information was conducted, as well as relevant data from the genetic investigation, where a specific alteration in the ABCD1 gene was observed. After genetic counseling, the hypothesis of a rare genetic alteration was confirmed, requiring multidisciplinary support and follow-up with specific protocols and individualized treatments to stabilize and monitor clinical progression. Comments: Given the complexity and genetic etiology of the disease, genetic counseling provided essential information for genetic diagnosis, management by the multidisciplinary team, facilitating informed decisions, emotional support, and access to specialized care.
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