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Case Reports
. 2018 May 13:2018:4252696.
doi: 10.1155/2018/4252696. eCollection 2018.

Hunter Syndrome Diagnosed by Otorhinolaryngologist

Ayako Hashimoto  1 , Tadayuki Kumagai  2 , Hiroyuki Mineta  3
Affiliations
Case Reports

Hunter Syndrome Diagnosed by Otorhinolaryngologist

Ayako Hashimoto et al. Case Rep Otolaryngol. .

Abstract

Hunter syndrome is a lysosomal disease characterized by deficiency of the lysosomal enzyme iduronate-2-sulfatase (I2S). It has an estimated incidence of approximately 1 in 1,62,000 live male births. We report a case of Hunter syndrome diagnosed by an otorhinolaryngologist. To our knowledge, this is the first study diagnosed by an otorhinolaryngologist despite the fact that otorhinolaryngological symptoms manifest at a young age in this disease. The patient was a 4-year-old boy. He underwent adenotonsillectomy. Intubation was difficult, and he had some symptoms which are reasonable as a mucopolysaccharidosis. The otorhinolaryngologist should play an integral role in the multidisciplinary approach to the diagnosis and management of many children with MPS (mucopolysaccharidoses) disorders.

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Figures

Figure 1
Figure 1
Hand X-ray imaging the clawhand deformity.
Figure 2
Figure 2
Lateral neck X-ray. Obstruction of the nasopharyngeal airway due to adenoid hypertrophy is apparent.
Figure 3
Figure 3
Laryngeal endoscopy revealing swelling in the arytenoid.
Figure 4
Figure 4
Mongolian spot.
Figure 5
Figure 5
Chest X-ray image revealing oar-like ribs.
Figure 6
Figure 6
Chest X-ray image revealing egg-shaped vertebra.
Figure 7
Figure 7
X-ray image of the fingers revealing sharp metacarpals.
Figure 8
Figure 8
Genu valgum.
Figure 9
Figure 9
Head magnetic resonance image revealing an enlarged Virchow-Robin space.
See this image and copyright information in PMC

References

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