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eISSN: 2083-8441
ISSN: 2081-237X
Pediatric Endocrinology Diabetes and Metabolism
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2/2017
vol. 23
 
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abstract:
Case report

Early enzyme replacement therapy – hope for patients with mucopolysaccharidosis Type II

Karolina Orchel-Szastak
,
Katarzyna Ptak
,
Katarzyna Hrnciar
,
Bożena Pilch
,
Urszula Kania
,
Mirosław Bik-Multanowski

Pediatr Endocrino Diabetes Metab 2017;23,2:111-116
Online publish date: 2017/10/11
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We present an unexpected outcome of 10 years of enzyme replacement therapy of a boy with mucopolysaccharidosis type II. Due to a positive familiar history (severe disease course in a sibling) the diagnosis was established in the first month of life. Treatment with Elaprase was introduced two months later. Since then normal physical and mental development is observed. The patient presents only relatively large head circumference (+2.1 SD) and slight decrease of joints mobility. In our opinion, early introduction of enzyme replecement therapy could attenuate the disease course.
keywords:

mucopolysaccharidosis type II, Hunter disease, enzyme replacement therapy, idursulfase

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