X-LINKED ADRENOLEUKODYSTROPHY IN A CHILD: CASE REPORT AND LITERATURE REVIEW
DOI:
https://doi.org/10.47820/recima21.v4i5.3098Keywords:
Adrenoleukodystrophy, Peroxisome Disorders, Lipid Metabolism, Hereditary DiseaseAbstract
Adrenoleukodystrophy is a genetic disease linked to the X chromosome that affects almost exclusively males, with an incidence of 1:20,000 live births. The enzymatic error can cause a very variable clinical picture and several disturbances may occur. The symptomatology is quite nonspecific, which delays the identification of the pathology. The diagnosis is made by checking serum levels of very long-chain fatty acids, changes in central nervous system imaging and/or genetic testing. A cure is not guaranteed, but early diagnosis and bone marrow transplantation can lead to a relatively normal life. Methodology: Case study of a child with adrenoleukodystrophy, based on information gathered from medical records and complementary exams, organized in chronological order. Results: The child had a family history of leukodystrophy in a maternal uncle who died in childhood. Symptoms began at age six, initially with mood swings. After one year, he presented ataxic gait, significant reduction in visual acuity, language disorders and psychomotor involution. Neuroimaging exams detected white matter lesions in both cerebral hemispheres and there were clinical and laboratory signs of adrenal insufficiency. Measurement of very long chain fatty acids confirmed the diagnosis. Bone marrow transplantation was no longer viable due to the severity of the symptoms. Due to infectious complications, he died at seven years and eight months. Conclusions: Genetic counseling could have been useful in preventing or contributing to earlier detection and more assertive treatment.
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