[Clinical aspects of mucopolysaccharidosis type II].
OBJECTIVE
To review the clinical and diagnostic aspects of mucopolysaccharidosis type II (Hunter syndrome).


METHODS
The different phenotypes are described and the multisystem clinical symptoms are considered, with special emphasis on skeletal deformities and cardiorespiratory and neurological complications.


CONCLUSIONS
Paediatricians and certain specialists (in neurology, ORL, rheumatology and cardiology) must be aware of the need to increase the clinical suspicion of this condition, which can nowadays be treated using enzyme replacement therapy.
Sanjurjo-Crespo
P
P
Hospital de Cruces, 48903 Barakaldo, Espana. psanjurjo@hcru.osakidetza.net
D006801:Humans; D016532:Mucopolysaccharidosis II / Q000175:diagnosis*