Open AccessA rare case of mucopolysaccharidosis: Hunter syndrome
Author(s) -
Prathima Gajula,
Karthikeyan Ramalingam,
Dinesh Bhadrashetty
Publication year - 2012
Publication title -
journal of natural science, biology and medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.236
H-Index - 30
eISSN - 2229-7707
pISSN - 0976-9668
DOI - 10.4103/0976-9668.95984
Subject(s) - mucopolysaccharidosis , medicine , presentation (obstetrics) , hunter syndrome , pediatrics , dermatology , case presentation , mucopolysaccharidosis type ii , rare disease , surgery , pathology , enzyme replacement therapy , disease
We report a rare case of Hunter syndrome-mucopolysaccharidosis type II (MPS II) with atypical presentation of mild mental retardation, acrocephalic head without corneal clouding, and multiple skin eruptions along with oral, dental, and radiographic findings. It is a rare syndrome with a very low prevalence of 1:100,000 births and as such the clinician should be aware of this syndrome.