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[Hurler syndrome (a case report)].

L Zeng1, F Xu, Q Ma

  • 1Zhongshan Ophthalmic Center, Sun Yat-Sen University of Medical Sciences, Guangzhou, China.

Yan Ke Xue Bao = Eye Science
|December 1, 1992
PubMed
Summary
This summary is machine-generated.

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This case report details Hurler syndrome diagnosis using clinical and lab findings. Visual electrophysiological tests are crucial for assessing vision in patients with opaque ocular media.

Area of Science:

  • Medical Genetics
  • Ophthalmology
  • Pediatrics

Background:

  • Hurler syndrome, a rare genetic lysosomal storage disorder, results from alpha-L-iduronidase deficiency.
  • It leads to progressive multi-systemic complications, including skeletal, ocular, and neurological impairments.

Observation:

  • A patient presented with characteristic skeletal anomalies (dystrophies, lace-shaped ribs, boat-shaped cranium) and ocular findings.
  • Ocular manifestations included bilateral corneal opacities and elevated intraocular pressure.
  • Visual evoked potential (VEP) measurements indicated optic nerve dysfunction.

Findings:

  • Clinical and laboratory examinations confirmed the diagnosis of Hurler syndrome.
  • Radiographic findings revealed typical mucopolysidosis skeletal changes.

Related Experiment Videos

  • VEP testing proved essential for evaluating visual pathway integrity despite corneal opacity.

    • Implications:

    • This case underscores the importance of integrating clinical, radiological, and electrophysiological assessments for accurate Hurler syndrome diagnosis.
    • Visual electrophysiological examinations are vital for functional vision assessment in patients with opaque ocular media.
    • Early diagnosis and management are critical for mitigating the severe, progressive complications of Hurler syndrome.