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Hurler syndrome: a case report.

S Thomas1, S Tandon

  • 1Department of Pedodontics and Preventive Dentistry, College of Dental Surgery, Manipal 5761 19, India.

The Journal of Clinical Pediatric Dentistry
|April 21, 2001
PubMed
Summary
This summary is machine-generated.

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Hurler syndrome, a rare inherited metabolic disorder, results from defects in lysosomal degradation pathways. This case highlights a child with a unique combination of skeletal, neurological, ophthalmologic, and dental symptoms.

Area of Science:

  • Genetics
  • Biochemistry
  • Pediatrics

Background:

  • Hurler syndrome is an inherited mucopolysaccharide storage disease.
  • It stems from defects in lysosomal degradation pathways.
  • It is the classical prototype of mucopolysaccharide disorders.

Observation:

  • A case report of a three-and-a-half-year-old boy is presented.
  • The patient exhibited a rare combination of clinical manifestations.
  • Findings included skeletal, neurological, ophthalmologic, and dental abnormalities.

Findings:

  • The case illustrates the diverse clinical spectrum of Hurler syndrome.
  • It emphasizes the importance of recognizing this rare condition.

Implications:

Related Experiment Videos

  • Early diagnosis and awareness of Hurler syndrome are crucial for management.
  • This case underscores the need for comprehensive evaluation in suspected cases.
  • Understanding the genetic basis aids in genetic counseling and potential therapeutic strategies.