SOVREMENNAYA PEDIATRIYA.2019.2(98):53-56; doi 10.15574/SP.2019.98.53

Chernik–Bulent A. F., Hajiyeva F. F., Mamedova F. M.
Azerbaijan Medical University, Baku

The article presents modern information about the prevalence, etiology, pathogenesis and the clinical symptoms of the Maroteaux–Lamy disease (mucopolysaccharidosis type VI; MPS VI). It contains a analysis of the main causes of errors in the differential diagnosis of this disease with another pathology similar in presented.clinical manifestations. The example of own observation of a child with Maroteaux–Lamy disease describes the characteristic clinical signs. Also indicated the importance of the medical genetic counseling and prenatal diagnosis for the primary prevention of this disease.

Key words: accumulation diseases, mucopolysaccharidosis, Maroteaux–Lamy disease, children/

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Article received: Oct 28, 2018. Accepted for publication: Mar 09, 2019.