Saratov JOURNAL of Medical and Scientific Research

genetic disease

On the clinical picture and diagnosis of rare neurological diseases

Year: 2018, volume 14 Issue: №1 Pages: 174-177
Heading: Neurology Article type: Case report
Authors: Ulyanova O.V., Kutashov V.A., Brezhneva N.V.
Organization: Regional Children's Clinical Hospital No. 1 (Voronezh), Voronezh State Medical University n.a. N.N. Burdenko

 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.

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