PERINATOLOGIYA I PEDIATRIYA.2015.4(64):94-97; doi 10.15574/PP.2015.64.94 
 

Rhizomelic osteochondrodysplasia punctata: modern concepts of the pathogenesis, treatment and diagnosis (сase study) 
 

Tsymbalista O. L., Semkovych M. Ya., Valchyshyn V. P., Kurtash O. O., Semkovych Ya. V., L.Ye. Matviiv, Melnyk T. M., Stefanyshyn A. B., Dziubynskyi Ya. S., Sytnyk O. D., Tsiutsiak O. M.

Ivano-Frankivsk National Medical University, Ivano-Frankivsk, Ukraine

Ivano-Frankivsk Regional Children's Clinical Hospital, Ivano-Frankivsk, Ukraine 
 

The objective of the research was to familiarize pediatricians with a rare hereditary disease — rhizomelic osteochondrodysplasia punctata making an analysis of one clinical case. 
 

Results and conclusions. Osteochondrodysplasia belongs to the group of peroxisomal disorders. Peroxisomes are small organelles found in the cell cytoplasm of all body tissues with the largest number in the liver and kidneys. Peroxisomes are one of the main centers of oxygen utilization at the cellular level, contain around 40 enzymes and are involved in the synthesis of phospholipid plasmalogens that are necessary to make up the nervous tissue. The autosomal recessive form of rhizomelic osteochondrodysplasia is the most severe manifestation of osteochondrodysplasia punctata. Peroxisomal biogenesis disorders are accompanied by absence or reduction in the number of peroxisomes in body tissues leading to tissue hypoxia and further violation of the metabolism. The disease manifests itself as respiratory infections being lethal mainly in the neonatal period. The phenotypic expression of osteochondrodysplasia consists of limb shortening, joint thickening, clubfoot, flexion contractures, and congenital malformations (heart, vision, brain). 
 

Key words: children, osteochondrodysplasia, peroxisomes, tissue breathing/internal respiration, congenital malformations. 
 

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