Peroxisomal disorders: challenging diagnosis in a child with early disease
E.V. Shishkina1, M.V. Barkhatov1,2, G.V. Denisova2, A.V. Nosyrev2, T.N. Bazilevskaya3, I.V. Novikova3, D.A. Maiseenko1
1V.F. Voino-Yasenetsky Krasnoyarsk State Medical University
2Krasnoyarsk Territorial Clinical Center of Protection for Motherhood and Childhood
3Krasnoyarsk Regional Children Clinical Hospital No. 1
Peroxisomal disorders belonging to a group of hereditary metabolic disorders vary in their clinical course and manifestations and are often fatal. These disorders manifest at the age of 2 to 10 years and can lead to death within the first two years. If treatment (i.e., bone marrow transplantation) is successful, life can be prolonged to several decades. Currently, there are three classes of peroxisomal disorders. Among them, X-linked adrenoleukodystrophy is characterized by the dramatic course. This rare X-linked recessive hereditary disorder is characterized by the progressive course and affects both central and peripheral nervous system and adrenal glands. X-linked disorders are observed primarily in male patients (since they have only one X-chromosome). Typically, a healthy man and a woman who is a carrier have a son with X-linked adrenoleukodystrophy. A c hance of having X-linked adrenoleukodystrophy in sons as well as a chance of being a carrier in daughters is 50%. This paper describes in detail the development of a 3-year old boy with X-linked adrenoleukodystrophy. Non-typical disease manifestation has made the diagnosis challenging. The diagnosis was verified by characteristic markers only, i.e., elevated concentrations of very long-chain fatty acids and mutations in the АBCD1 gene.
Keywords: peroxisomal disorders, X-linked adrenoleukodystrophy, АBCD1 gene, very long-chain fatty acids.
For citation: Shishkina E.V., Barkhatov M.V., Denisova G.V. et al. Peroxisomal disorders: challenging diagnosis in a child with early disease. RMJ. Medical Review. 2019;8:48–51.
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