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Case Reports
. 2021 Nov 11;14(11):e246765.
doi: 10.1136/bcr-2021-246765.

Hurler holes in Hunter syndrome

Rajaram Sharma  1   2 , Vikash Sharma  3 , Tapendra Tiwari  3 , Saurabh Goyal  3
Affiliations
Case Reports

Hurler holes in Hunter syndrome

Rajaram Sharma et al. BMJ Case Rep. .
No abstract available

Keywords: congenital disorders; neurogenetics; radiology.

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Conflict of interest statement

Competing interests: None declared.

Figures

Figure 1
Figure 1
Clinical photograph of the patient with Hunter syndrome having classic features such as scoliosis, distended abdomen, umbilical hernia and flexion deformities in extremities.
Figure 2
Figure 2
MRI findings in a 16-year-old male with Hunter syndrome: (A) Sagittal T2-weighted image of the brain demonstrates multiple well-defined rounded cystic lesions (Hurler holes) involving the corpus callosum (black arrow), and (B) axial fluid-attenuated inversion recovery image of the brain revealed symmetric periventricular and deep white matter involvement (black arrows). There is associated mild ventriculomegaly. (C) Coronal T2-weighted image of the brain shows prominent cerebrospinal fluid (CSF) in the dural sheath over bilateral optic nerves (black arrow), and (D) three-dimensional constructive interference in steady-state image shows extra-axial CSF signal intensity area in the right temporal region (white arrow).
See this image and copyright information in PMC

References

    1. Gupta A, Uttarilli A, Dalal A, et al. . Hunter syndrome with late age of presentation: clinical description of a case and review of the literature. BMJ Case Rep 2015;2015:bcr2015209305. 10.1136/bcr-2015-209305 - DOI - PMC - PubMed
    1. Reichert R, Campos LG, Vairo F, et al. . Neuroimaging findings in patients with mucopolysaccharidosis: what you really need to know. Radiographics 2016;36:1448–6210.1148/rg.2016150168 - DOI - PubMed
    1. Zafeiriou DI, Batzios SP. Brain and spinal MR imaging findings in mucopolysaccharidoses: a review. AJNR Am J Neuroradiol 2013;34:5–13. 10.3174/ajnr.A2832 - DOI - PMC - PubMed

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