Saratov JOURNAL of Medical and Scientific Research

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.

1 Federal clinical guidelines for the diagnosis and treatment ofX-linked adrenoleukodystrophy. Moscow, 2013; 20 p.
2 Vyazova LS, Solntseva AV. A clinical case of adrenoleukodystrophy in a ten-year-old boy. Reproductive Health in Belarus 2011; 1: 71-8
3 Eremina ER X-linked adrenoleukodystrophy: some information about the disease. Bulletin of the Buryat State University 2015; 12: 57-62
4 Guzeva VI, ed. The Federal Manual for Pediatric Neurology. Moscow: Special publishing house of medical books, 2016; 696 p.
5 Zakharova EYu, Mikhailova SV, Rudenskaya GE, Dadali EL. Differential diagnosis of leukodystrophies. Medical Genetics 2004; 10: 453-9
6 Lomonosova EZ, Rudenskaya GE, Shekhter OV, et al. Clinical-genealogical, biochemical and molecular-genetic characteristics of X-linked adrenoleukodystrophy. Medical Genetics 2006; 5: 6
7 Mikhaylova SV, Zakharova EYu, Petrukhin AS. Neurometabolic diseases in children and adolescents: Diagnosis and treatment approaches. Moscow: Littera, 2011; 356 p.
8 Yevtushenko SK, Perepechayenko YuM. Family case of X-linked adrenoleicodystrophy and an attempt at Lorenzo's Oil treatment. International Neurological Journal 2005; 4 (4): 11-4
9 Ulyanova OV, Kutashov VA. A modern view of the characteristics of interaction in families where patients have neurological or psychiatric disorders. System analysis and management in biomedical systems 2015; 14 (3): 663-5.

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