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Case Reports
. 2015 Apr;9(4):ZD23-6.
doi: 10.7860/JCDR/2015/13251.5858. Epub 2015 Apr 1.

A rare case of mucopolysaccharidosis: hunter syndrome

Jayaprasad Anekar  1 , Deepa Narayanan C  2 , Raj A C  3 , Sandeepa N C  4 , Deepika Nappalli  4
Affiliations
Case Reports

A rare case of mucopolysaccharidosis: hunter syndrome

Jayaprasad Anekar et al. J Clin Diagn Res. 2015 Apr.

Abstract

Hunter syndrome, or mucopolysaccharidosis type II (MPS II), is a member of a group of inherited metabolic disorders together termed mucopolysaccharidosis (MPSs). It is a rare, X-linked disorder caused by a deficiency of the lysosomal enzyme iduronate-2-sulfatase. The prevalence of this syndrome is 1:100,000 births. Insufficient enzyme activity results in accumulation of glycosaminoglycans (GAGS) in the lysosomes of various tissues and organs and leading to progressive multisystem pathologies. Here, we report a case of 13-year-old boy who presented with typical facial, skeletal and dental features without corneal clouding. It is possible that thorough and systematic clinical and radiological examination alone can help in diagnosis of this complex disorder.

Keywords: Coarse facial features; Delayed eruption; Macroglossia.

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Figures

[Table/Fig-1a-f]:
[Table/Fig-1a-f]:
(a) Shows typical coarse facial features, depressed nasal bridge with wide nostrils, bilateral periorbital oedema, bushy eyebrows and puffy eyelids.(b) Shows patient’s claw like hand (c) Shows abnormal lower extremity of the patient (d) Shows protruded abdomen and chest (e) Intraoral photograph showing macroglossia (f) Intra oral photograph showing anterior open bite
[Table/Fig-2a-f]:
[Table/Fig-2a-f]:
(a) PA skull view showing thickened skull vault with parietal protuberance bilaterally with a dolicocephalic shape (b) Lateral cephalogram showing thickened skull vault and J shaped deepened sella turcica (c) Chest radiograph showing thickened clavicle with oar shaped ribs (d) AP spine view showing anterior beaking of lumbar vertebrae (e) Hand wrist radiograph showing proximal pointing of metacarpals (f) Panoramic view showing multiple retained and impacted teeth and enlarged pulp chamber
[Table/Fig-3]:
[Table/Fig-3]:
Pedigree chart of the patient showing x linked inheritance in the family
[Table/Fig-4a-c]:
[Table/Fig-4a-c]:
(a) Patient’s sibling showing coarse facial features, depressed nasal bridge with wide nostrils, bushy eyebrows and puffy eyelids (b) Shows abnormal chest and abdomen (c) Shows macroglossia
See this image and copyright information in PMC

References

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    1. Chinawa JM, Adimora GN, Obu HA, Tagbo B, Ujunwa F, Onubogu I. Clinical Presentation of Mucopolysaccharidosis Type II (Hunter's Syndrome) Ann Med Health Sci. 2012;2(1):87–90. - PMC - PubMed
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    1. Young ID, Harper PS, Newcombe RG, Archer IM. A clinical and genetic study of Hunter’s syndrome. 2. Differences between the mild and severe forms. J Med Genet. 1982;19:408–11. - PMC - PubMed

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