Journal of The Korean Society of Inherited Metabolic disease (대한유전성대사질환학회지)

The Korea Society of Inherited Metabolic Disease (대한유전성대사질환학회)
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A Case of Early Diagnosed Hunter Syndrome Detected by Large Head on Routine Examination

큰 두위를 주소로 내원하여 헌터 증후군으로 일찍 진단된 증례 1례

  • Lee, Seung Ho (Department of Pediatrics, Dankook University Hospital) ;
  • Park, Woo Sung (Department of Pediatrics, Dankook University Hospital) ;
  • Lee, Young Seok (Department of Radiology, Dankook University Hospital) ;
  • Yu, Jeesuk (Department of Pediatrics, Dankook University Hospital)
  • 이승호 (단국대학교병원 소아청소년과) ;
  • 박우성 (단국대학교병원 소아청소년과) ;
  • 이영석 (단국대학교병원 영상의학과) ;
  • 유지숙 (단국대학교병원 소아청소년과)
  • Published : 2014.12.25
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Abstract

A 25-month-old boy was referred to the hospital due to large head detected on routine physical examination. At visit, dysmorphic facial appearances, including broad nose, prominent forehead, and coarse face, were noted. Nasal obstruction with nasal voice, prominent adenoids, and bilateral middle ear effusions were detected. His abdomen was distended, and liver and spleen were palpated about 3 finger and 2 finger breadths, respectively. He was operated for bilateral inguinal hernias. The motion of both elbow joints was mildly limited on supination and pronation. Urinary level of glycosaminoglycan was elevated and the enzyme activity of iduronate sulfatase in leukocytes was decreased. The mutational analysis of the gene iduronate 2-sulfatase (IDS) revealed c.263G>A (p.Arg88His) mutation. His developmental scale showed delayed development and there was cardiac valvular involvement (tricuspid regurgitation and mitral valve prolapse). After the diagnosis of Hunter syndrome, enzyme replacement therapy started on a weekly basis without progression of any clinical features. Here we report a case of early diagnosed Hunter syndrome detected by large head on routine examination. Thus, it is important to associate Hunter syndrome in the patient with large head especially, if there is the history of bilateral inguinal hernia and prominent adenoids to increase the possibility of early diagnosis and treatment.

Keywords

References

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