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Case Reports
. 2012 Jan;3(1):97-100.
doi: 10.4103/0976-9668.95984.

A rare case of mucopolysaccharidosis: Hunter syndrome

Prathima Gajula  1 , Karthikeyan Ramalingam, Dinesh Bhadrashetty
Affiliations
Case Reports

A rare case of mucopolysaccharidosis: Hunter syndrome

Prathima Gajula et al. J Nat Sci Biol Med. 2012 Jan.

Abstract

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.

Keywords: Hunter syndrome; mucopolysaccharidosis; skin eruptions.

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Conflict of interest statement

Conflict of Interest: None declared.

Figures

Figure 1
Figure 1
Extra oral picture showing the facial features and skin eruptions on the forehead
Figure 2
Figure 2
Picture showing the skin lesions on the forehand
Figure 3
Figure 3
Intraoral picture revealing hypoplastic enamel and carious teeth
Figure 4
Figure 4
IOPA radiograph revealing a cystic lesion with an associated carious root stump of deciduous second molar
Figure 5
Figure 5
OPG showing the radiolucency in relation to right mandibular deciduous second molar
See this image and copyright information in PMC

References

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    1. Martin R, Beck M, Eng C, Giugliani R, Harmatz P, Mufioz V, et al. Recognition and diagnosis of mucopolysaccharidosis II (Hunter syndrome) Pediatrics. 2008;121:377–86. - PubMed
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