Saratov JOURNAL of Medical and Scientific Research

heredity

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 Academy
Summary:

 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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Ichthyosis: the question of inheritance

Year: 2016, volume 12 Issue: №3 Pages: 513-517
Heading: Dermatovenerology Article type: Review
Authors: Talnikova Е.Е., Sherstneva V.N., Morrison A.V., Utz S.R.
Organization: Saratov State Medical University
Summary:

This review summarizes the literature, specifically describing etiology, pathogenesis, classification and inheritance of ichthyosiform dermatoses. A case of ichthyosis vulgaris inherited in three generations of a family is described.

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2016_03-1_513-517.pdf915.64 KB

Progeria

Year: 2014, volume 10 Issue: №3 Pages: 522-524
Heading: Skin Diseases Article type: Review
Authors: Utz S.R., Talnikova Е.Е., Sherstneva V.N., Rumyantseva E.V..
Organization: Saratov State Medical University
Summary:

The data of literature, reflecting etiology, clinical features and differential diagnosis of progeria of childhood and adult are presented

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2014_03-01_522-524.pdf364.08 KB