Саратовский научно-медицинский журнал (Mar 2018)
On the clinical picture and diagnosis of rare neurological diseases
Abstract
The article presents clinical observation of patient H, 2007 year of birth., with X-linked adrenoleukodystrophy (X-ALD). This is a rare hereditary metabolic disease, not only in Russia but also worldwide. It belongs to the group of peroxisomal diseases, is associated with the accumulation of fatty acids with a very long chain and is characterized by a combined lesion of the nervous system and adrenal glands. X-ALD in neurology and Pediatrics require a targeted individual approach to each patient, genetic tests in relatives and prenatal diagnosis among patients at risk.
