Advances in Clinical and Experimental Medicine

Title abbreviation: Adv Clin Exp Med
JCR Impact Factor (IF) – 1.736
5-Year Impact Factor – 2.135
Index Copernicus  – 168.52
MEiN – 70 pts

ISSN 1899–5276 (print)
ISSN 2451-2680 (online)
Periodicity – monthly

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Advances in Clinical and Experimental Medicine

2006, vol. 15, nr 2, March-April, p. 399–403

Publication type: clinical case

Language: Polish

Mukopolisacharydoza typu II (zespół Huntera) – opis przypadku

Mucopolysaccharidosis II (Hunter Syndrome) – Case Report

Tomasz Pytrus1,, Barbara Iwańczak1,, Józef Wawro2,, Barbara Czartoryska3,, Franciszek Iwańczak1,

1 II Katedra i Klinika Pediatrii, Gastroenterologii i Żywienia AM we Wrocławiu

2 Katedra i Zakład Radiologii AM we Wrocławiu

3 Zakład Genetyki, Pracownia Metaboliczna Instytutu Psychiatrii i Neurologii w Warszawie

Streszczenie

Autorzy przedstawiają chłopca, u którego w 7. r.ż. rozpoznano mukopolisacharydozę typu II (zespół Huntera). Podkreślono konieczność wcześniejszej diagnostyki dzieci z upośledzeniem umysłowym, zwłaszcza gdy z wywiadu wynika, że w rodzinie zdarzyły się przypadki upośledzenia umysłowego.

Abstract

We report one the case of a 6−year−old boy in whom mucopolysaccharidosis II (Hunter syndrome) was diagnosed. This case emphasizes the importance of recognizing the differential diagnosis in children with mental retardation, especially in cases with positive familiar history.

Słowa kluczowe

mukopolisacharydoza, zespół Huntera, dzieci

Key words

mucopolisaccaridosis, Hunter syndrome, children

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